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Pediatric conditions Hand Book: OCP 103

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CHILDREN WITH PHYSICAL CONDITIONS CONGENITAL ANOMALIES Skeletal defects affecting the nervous system: Spina bifida Hydrocephalus 3

Hereditary spastic diplegia Myoclonus Torticollis Tics/ tourettes syndrome Rett syndrome

Children With Developmental Disabilities Downs syndrome Children with Cognitive Dysfunctions Mental retardation Autism Attention deficit disorder(ADD) Attention deficit hyperactivity disorder(ADHD) Children with sensory deficits Deafness Visual receptive deficit Visual perceptive deficit Head injury Deaf and blind

Orthopaedic anomalies: Osteogenesis imprefecta Arthrogryposis Multiplex Congenital Talipes Equinovarus Torticollis Congenital Hip Dislocation

5 Sequelae of Prematurity Hypotonia Neuromuscular Disorder Cerebral palsy Chronic Diseases Chronic Cardiac Condition Traumatic Injuries Fractures Head Injuries Sensory Impairments Children with movement disorder Ataxia Cortixcobasal degeneration Dyskinesis(paroxysm al) Dystonia

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Congenital Anomalies
Definition A congenital anomaly (congenital





anomalies are referred to as teratogenic. These are generally problems with the mother's environment. Teratogens can

abnormality, congenital malformation, birth defect) is a condition which is present at the time of birth which varies from the standard presentation Causes The cause of 40-60% of congenital

include dietary deficiencies, toxins, or infections. For example, dietary deficiency of maternal folic acid is associated with spina bifida. Ingestion of harmful substances by the mother (e.g., alcohol, mercury, or prescription drugs such as phenytoin) can cause recognizable combinations of birth defects. Several infections which a mother can contract during pregnancy can also be teratogenic. These are referred to as the torch infections. Teratogens The greatest risk of a malformation due to environmental exposure to a teratogen (terato = monster, gen = producing) between the third and eighth week of gestation. Before this time, any damage to the embryo is likely to result in fatality, and the baby will not be born. After eight weeks, the fetus and its organs are more developed and less sensitive to terotogenic incidents.

anomalies in humans is unknown. These are referred to as sporadic, a term that implies an unknown cause, random occurrence regardless of maternal living conditions, and a low recurrence risk for future children. For 20-25% of anomalies there seems to be a "multifactorial" cause, meaning a complex interaction of multiple minor genetic

anomalies with environmental risk factors. Another 10-13% of anomalies have a purely environmental cause (e.g. Infections, illness, or drug abuse in the mother). Only 12-25% of anomalies have a purely genetic cause. Of these, the majority are chromosomal

anomalies. Genetic causes of congenital anomalies include inheritance of abnormal genes from the parents, as well as new mutations in one of the germ cells that gave rise to the fetus.

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Type of congenital anomalies -a limb anomaly is called a dysmelia. These include all forms of limbs anomalies, such as amelia, ectrodactyly, polydactyly, phocomelia, syndactyly, oligodactyly,

Primarily structural Several terms are used to describe

congenital abnormalities. (some of these are also used to describe noncongenital


conditions, and more than one term may apply in an individual condition.)


brachydactyly, achondroplasia, congenital aplasia or hypoplasia, amniotic band A congenital physical anomaly is an abnormality of the structure of a body part. An anomaly may or may not be Congenital anomalies of the heart include patent ductus arteriosus, atrial septal defect, ventricular septal defect, and tetralogy of fallot. Helen taussig has been a major force in research on congenital anomalies of the heart. Congenital anomalies of the nervous system include neural tube defects such as spina bifida, meningocele, and meningomyelocele, anencephaly. Other perceived as a problem condition. Many, if not most, people have one or more minor physical anomalies if examined carefully. Examples of minor anomalies can include curvature of the 5th finger (clinodactyly), a third nipple, tiny indentations of the skin near the ears (preauricular pits), shortness of the 4th metacarpal or metatarsal bones, or dimples over the lower spine (sacral dimples). Some minor anomalies may be clues

syndrome, and cleidocranial dysostosis.


congenital anomalies of the nervous system include the arnold-chiari malformation, the dandy-walker malformation, hydrocephalus, microencephaly, lissencephaly, megencephaly, polymicrogyria,





abnormalities. Birth defect is a widely used term for a congenital malformation, i.e. A

holoprosencephaly, and agenesis of the corpus callosum. Congenital anomalies of the gastrointestinal system include numerous forms of stenosis and atresia, and imperforate.

congenital, physical anomaly which is recognizable at birth, and which is significant enough to be considered a problem. According to the cdc, most birth defects are believed to be caused by a complex mix of factors including

Pediatric conditions Hand notes

genetics, environment, and behaviors, although many birth defects have no known cause. An example of a birth defect is cleft palate.

When multiple effects occur in a specified order, it is known as a sequence. When the order is not known, it is a syndrome.




a Causes of fetal malformation: Several factors are known to produces malformations of the developing fetus. These are environmental factors like use of drugs, radiation, viruses, genetic traits in one or both parents, and as interaction of the environmental and hereditary influences. Nurses are mainly concerned with the environmental influences since they are controllable in many instances so that birth defects can be prevented. 1. Drugs: Drugs in general carry such a potential for the production of birth defects that their use during pregnancy is strongly

congenital physical anomaly that is deleterious, i.e. A structural defect perceived as a problem. A typical combination of malformations affecting more than one body part is referred to as a malformation syndrome.

Some conditions are due to abnormal tissue development:


A malformation is associated with a disorder of tissue development. Malformations often occur in the first trimester.

A dysplasia is a disorder at the organ level that is due to problems with tissue development.

It is also possible for conditions to arise after tissue is formed:


discouraged. Use of street drugs like heroin or hashish by pregnant women could be responsible for soon congenital anomalies. Alcohol also appears to influence fetal development and its excessive use during pregnancy can produce fetal malformations. 2. Radiation: Exposure of the mother to radiation has been shown to cause birth defects, the earlier in pregnancy the exposure,
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A deformation is a condition arising from mechanical stress to normal tissue deformations often occur in the and second can be or third to



oligohydramnios. A disruption involves breakdown of normal tissues.

the more extensive is the fetal damage. Exposure at later gestational stages may result in less apparent deviations. Atmospheric or environmental radio contamination also contributes to the risk of fetal deviations (as in nuclear accidents weapons). 3. Viruses: Like rubella virus (that causes german measles). Whether infection of the mother during pregnancy procedures deformities in the fetus depends upon the nature of the infectious organism, the development stage of the fetus at the time it is exposed to the organism; other factors such as the mothers antibody titer and other variables not yet or testing of nuclear

Note: contained within the nucleus of every somatic cell in the human body are more than 200.000 genes, the genetic material responsible for programming the bodys physiologic process and characteristics. These genes are composed of segments of dna (deoxyribonucleic into acid) structure and are called


chromosomes, which are visible only during certain stage of cell division. Alteration of a whole chromosome, a part of a chromosome or even a single gene can manifest a genetic disorder. Defects Skeletal defects affecting the nervous system: 1. Spina bifida: is a defective closure of the vertebral column. Whether the defect will have devastating consequences for the neonates depends entirely on the site and the extent of the anomaly. It is more common in the lumbo sacral region. It has varying degree of tissue protrusion through the bony cleft. 2. Spina bifida occulta: usually the 5th lumber and 1st sacral vertebrae are affected with no protrusion of interspinal contents the spinal cord and its cover the skin over the defect may reveal a dimple, small fatty mass, or a tuft of hair. The defect is only in

understood. 4. Genetic traits: Probably all human characteristics have a genetic component, including those that produce symptoms or physical

abnormalities that impair the fitness of the person. Some disorder or disease occurs through the influence of a single gene or combined action of many genes inherited from the parents; others result from the action of the intrauterine environment that affects the embryonic development.

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the vertebra, the spinal cord and meneiges is normal and not visible. 3. Meningocle: is a protrusion through the spinal bifida, which forms a soft, saclike appearance along the spinal axis and contains spinal fluid and meninges within the sac and covered with skin. 4. Meningomyelocele: is a more serious defect in which the spinal cord and /or nerve roots as well as meningoel covering protrude through the spina bifida. The degree and extent of neurogenice defect depend on the level of the defect. The higher the level the greater the defect. If in the lumbosacral area, the usual of the defect is associated with a flaccid paralysis of the lower extremities, absent sensation to the level of the lesion, and loss of bowel and bladder control. 5. Hydrocephalus: the abnormal increase in cerebrospinal fluid volume within the intracranial cavity due to a defect in the cerebrospinal fluid drainage system,

intracranial pressure increases, the scalp veins dilate, and the cranial suture begin to separate.

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Spina bifida
Definition: Spina bifida (Latin: "split spine") is a developmental congenital disorder caused by the incomplete closing of the embryonic neural tube. Some vertebrae overlying the spinal cord are not fully formed and remain unfused and open. If the opening is large enough, this allows a portion of the spinal cord to protrude through the opening in the bones. There may or may not be a fluid-filled sac surrounding the spinal cord. Other neural tube defects include anencephaly, a condition in which the portion of the neural tube which will become the cerebrum does not close, and encephalocele, which results when other parts of the brain remain unfused. Spina bifida malformations fall into four categories: spina bifida occulta, spina bifida (myelomeningocele), meningocele and lipomeningocele.

efficacy of this procedure is currently being investigated. The incidence of spina bifida can be decreased by up to 70% when daily folic acid supplements are taken prior to conception.

Spina bifida occulta

X-ray image of Spina bifida occulta in S-1


The most common location of the malformations is the lumbar and sacral areas. Myelomeningocele is the most significant form and it is this that leads to disability in most affected individuals. The terms spina bifida and myelomeningocele are usually used interchangeably. Spina bifida can be surgically closed after birth, but this does not restore normal function to the affected part of the spinal cord. Intrauterine surgery for spina bifida has also been performed and the safety and

Unfused arch of C1 at CT.

Occulta is Latin for "hidden". This is the mildest forms of spina bifida. In occulta, the outer part of some of the vertebrae is not completely closed. The split in the vertebrae is so small that the spinal cord does not protrude. The skin at the site of the lesion may be normal, or it may have

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some hair growing from it; there may be a dimple in the skin, or a birthmark. Many people with the mildest form of this type of spina bifida do not even know they have it, as the condition is asymptomatic in most cases. The incidence of spina bifida occulta is approximately 10% of the population, and most people are diagnosed incidentally from spinal X-rays. A systematic review of radiographic research studies found no relationship between spina bifida occulta and back pain. More recent studies not included in the review support the negative findings. However, other studies suggest spina bifida occulta is not always harmless. One study found that among patients with back pain, severity is worse if spina bifida occulta is present.

unlikely to suffer long-term health problems, although there are reports of tethered cord. Causes of meningocele include teratoma and other tumors of the sacrococcyx and of the presacral space, and Currarino syndrome, Bony defect with outpouching of meninges.[11] A meningocele may also form through dehiscences in the base of skull. These may be classified by their localisation to occipital, frontoethmoidal, or nasal. Endonasal meningoceles lie at the roof of the nasal cavity and may be mistaken for a nasal polyp. They are treated surgically. Encephalomeningoceles are classified in the same way and also contain brain tissue.


Spina bifida cystica In spina bifida cystica, a cyst protrudes through the defect in the vertebral arch. These conditions can be diagnosed in utero on the basis of elevated levels of alpha-fetoprotein, after amniocentesis, and by ultrasound imaging. Spina bifida cystica may result in hydrocephalus and neurological deficits.

Meningocele The least common form of spina bifida is a posterior meningocele (or meningeal cyst). In a posterior meningocele, the vertebrae develop normally, however the meninges are forced into the gaps between the vertebrae. As the nervous system remains undamaged, individuals with meningocele are Myelomeningocele in the lumbar area. 1. External sac with cerebrospinal fluid. 2. Spinal cord wedged between the vertebrae. In this, a serious and common form, the unfused portion of the spinal
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column allows the spinal cord to protrude through an opening. The meningeal membranes that cover the spinal cord form a sac enclosing the spinal elements. Spina bifida with myeloschisis is the most severe form of spina bifida cystica. In this defect, the involved area is represented by a flattened, plate-like mass of nervous tissue with no overlying membrane. The exposure of these nerves and tissues make the baby more prone to life-threatening infections. The protruded portion of the spinal cord and the nerves which originate at that level of the cord are damaged or not properly developed. As a result, there is usually some degree of paralysis and loss of sensation below the level of the spinal cord defect. Thus, the higher the level of the defect the more severe the associated nerve dysfunction and resultant paralysis. People may have ambulatory problems, loss of sensation, deformities of the hips, knees or feet and loss of muscle tone. Depending on the location of the lesion, intense pain may occur originating in the lower back, and continuing down the leg to the back of the knee.] Many individuals with spina bifida will have an associated abnormality of the cerebellum, called the Arnold Chiari II malformation. In affected individuals the back portion of the brain is displaced from the back of the skull down into the upper neck. In approximately 90 percent of the people with myelomeningocele, hydrocephalus will also occur because the displaced cerebellum interferes with the normal flow of cerebrospinal fluid.

The myelomeningocele (or perhaps the scarring due to surgery) tethers the spinal cord. In some individuals this causes significant traction on the spinal cord and can lead to a worsening of the paralysis, scoliosis, back pain, or worsening bowel and/or bladder function.[14]

Signs and symptoms

Children with spina bifida often have hydrocephalus, which consists of excessive accumulation of cerebrospinal fluid in the ventricles of the brain. Incontinence is also common. According to the Spina Bifida Association of America (SBAA), over 73 percent of people with spina bifida develop an allergy to latex, ranging from mild to lifethreatening. The common use of latex in medical facilities makes this a particularly serious concern.

Pathophysiology Spina bifida is caused by the failure of the neural tube to close during the first month of embryonic development (often before the mother knows she is pregnant). Normally the closure of the neural tube occurs around the 23rd (rostral closure) and 27th (caudal closure) day after fertilization. However, if something interferes and the tube fails to close properly, a neural tube defect will occur. Medications such as some anticonvulsants, diabetes, having a relative with spina bifida, obesity, and an increased body temperature from fever or external sources such as hot tubs and electric blankets may increase the chances of

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conception of a baby with a spina bifida. However, most women who give birth to babies with spina bifida have none of these risk factors, and so in spite of much research, it is still unknown what causes the majority of cases.] Extensive evidence from mouse strains with spina bifida indicates that there is sometimes a genetic basis for the condition. In human spina bifida, as with other human diseases such as cancer, hypertension and atherosclerosis (coronary artery disease), spina bifida likely results from the interaction of multiple genes and environmental factors. Research has shown that lack of folic acid (folate) is a contributing factor in the pathogenesis of neural tube defects, including spina bifida. Supplementation of the mother's diet with folate can reduce the incidence of neural tube defects by about 70 percent, and can also decrease the severity of these defects when they occur. It is unknown how or why folic acid has this effect. Spina bifida does not follow direct patterns of heredity like muscular dystrophy or haemophilia. Studies show that a woman, who has had one child with a neural tube defect such as spina bifida, has about a three percent risk of having another child with a neural tube defect. This risk can be reduced to about one percent if the woman takes high doses (4 mg/day) of folic acid before and during pregnancy. For the general population, low-dose folic acid supplements are advised (0.4 mg/day).

Prevention There is no single cause of spina bifida or any known way to prevent it entirely. However, dietary supplementation with folic acid has been shown to be helpful in preventing spina bifida (see above). Sources of folic acid include whole grains, fortified breakfast cereals, dried beans, leaf vegetables and fruits[ Folate fortification of enriched grain products has been mandatory in the United States since 1998. The U.S. Food and Drug Administration, Public Health Agency of Canada and UK recommended amount of folic acid for women of childbearing age and women planning to become pregnant is at least 0.4 mg/day of folic acid from at least three months before conception, and continued for the first 12 weeks of pregnancy. Women who have already had a baby with spina bifida or other type of neural tube defect, or are taking anticonvulsant medication should take a higher dose of 45 mg/day. Certain mutations in the gene VANGL1 are implicated as a risk factor for spina bifida: these mutations have been linked with spina bifida in some families with a history of spina bifida.

Pregnancy screening Neural tube defects can usually be detected during pregnancy by testing the mother's blood (AFP screening) or a detailed fetal ultrasound. Increased levels of maternal serum alpha-fetoprotein (MSAFP) should be followed up by two tests - an ultrasound of the fetal spine and

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amniocentesis of the mother's amniotic fluid (to test for alphafetoprotein and acetylcholinesterase). Spina bifida may be associated with other malformations as in dysmorphic syndromes, often resulting in spontaneous miscarriage. However, in the majority of cases spina bifida is an isolated malformation. Genetic counseling and further genetic testing, such as amniocentesis, may be offered during the pregnancy as some neural tube defects are associated with genetic disorders such as trisomy 18. Ultrasound screening for spina bifida is partly responsible for the decline in new cases, because many pregnancies are terminated out of fear that a newborn might have a poor future quality of life. With modern medical care, the quality of life of patients has greatly improved.[16]

Treatment There is no known cure for nerve damage due to spina bifida. To prevent further damage of the nervous tissue and to prevent infection, pediatric neurosurgeons operate to close the opening on the back. During the operation for spina bifida cystica, the spinal cord and its nerve roots are put back inside the spine and covered with meninges. In addition, a shunt may be surgically installed to provide a continuous drain for the cerebrospinal fluid produced in the brain, as happens with hydrocephalus. Shunts most commonly drain into the abdomen. However, if spina bifida is detected

during pregnancy, then open fetal surgery can be performed. Most individuals with myelomeningocele will need periodic evaluations by specialists including orthopedists to check on their bones and muscles, neurosurgeons to evaluate the brain and spinal cord and urologists for the kidneys and bladder. Such care is best begun immediately after birth. Most affected individuals will need to see an orthotist in regards to braces, crutches, walkers or wheelchairs to maximize their mobility. As a general rule, the higher the level of the spina bifida defect the more severe the paralysis, but paralysis does not always occur. Thus, those with low levels may need only short leg braces while those with higher levels do best with a wheelchair, and some may be able to walk unaided. Many will need to manage their urinary system with a program of catheterization. Most will also require some sort of bowel management program, though some may be virtually unaffected.

Fetal surgery clinical trials Management of Myelomeningocele Study (MOMS) is a phase III clinical trial to evaluate the safety and efficacy of fetal surgery to close a myelomeningocele. This involves surgically opening the pregnant mother's abdomen and uterus to operate on the fetus. This route of access to the fetus is called "open fetal surgery". Fetal skin grafts are used to cover the exposed spinal cord, to protect it from further damage caused by prolonged exposure to amniotic fluid. The fetal surgery may decrease some of the damaging effects of the spina bifida, but at

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some risk to both the fetus and the pregnant woman. The MOMS trial was closed for efficacy in December 2010 based on comparing outcomes after prenatal and postnatal repair in 183 patients. The trial demonstrated that outcomes after prenatal spina bifida treatment are improved to the degree that the benefits of the surgery outweigh the maternal risks. Results were reported in the New England Journal of Medicine by Adzick et al. Specifically, the study found that prenatal repair resulted in:

large incisions of her abdomen and uterus are not required. Early results indicate that the approach may maintain the fetal muscular and sensory function that is still present at the time of fetal surgery, regardless of lesion height. References: 1. "What Is Spina Bifida?". ASBAH. nformationsheets/whatisspinabifida.h tm. Retrieved 2009-02-14. 2. Foster, Mark R. "Spina Bifida". TOPIC557.HTM. Retrieved 200805-17. 3. "Spina Bifida Occulta". ASBAH. nformationsheets/spinabifidaocculta. htm. Retrieved 2009-02-14. 4. Saluja PG (1988). "The incidence of spina bifida occulta in a historic and a modern London population.". J Anat. 158: 9193. PMC 1261979. 5. van Tulder MW, Assendelft WJ, Koes BW, Bouter LM (1997). "Spinal radiographic findings and nonspecific low back pain. A systematic review of observational studies". Spine 22 (4): 42734. doi:10.1097/00007632-19970215000015. PMID 9055372.

Reversal of the hindbrain herniation component of the Chiari II malformation Reduced need for ventricular shunting (a procedure in which a thin tube is introduced into the brains ventricles to drain fluid and relieve hydrocephalus) Reduced incidence or severity of potentially devastating neurologic effects caused by the spines exposure to amniotic fluid, such as impaired motor function

In contrast to the open fetal operative approach tested in the MOMS, a minimally invasive approach is currently being tested by the German Center for Fetal Surgery & Minimally Invasive Therapy at the University of Giessen, Germany.[ This minimally invasive approach uses three small tubes (trocars) with an external diameter of 5 mm that are directly placed via small needle punctures through the maternal abdominal wall into the uterine cavity. Via this route, the unborn can be postured and its spina bifida defect is closed using small instruments. In contrast to open fetal surgery for spina bifida, the fetoscopic approach results in fewer traumas to the mother as

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Hydrocephalus also known as "water on the brain," is a medical condition in which there is an abnormal accumulation of cerebrospinal fluid (CSF) in the ventricles, or cavities, of the brain. This may cause increased intracranial pressure inside the skull and progressive enlargement of the head, convulsion, tunnel vision, and mental disability. Hydrocephalus can also cause death. Clinical presentation The clinical presentation of hydrocephalus varies with chronicity. Acute dilatation of the ventricular system is more likely to manifest with the nonspecific signs and symptoms of increased intracranial pressure. By contrast chronic dilatation (especially in the elderly population) may have a more insidious onset presenting, for instance, with Hakim's triad (Adams triad). Symptoms of increased intracranial pressure may include headaches, vomiting, nausea, papilledema, sleepiness or coma. Elevated intracranial pressure may result in uncal and/or cerebellar tonsill herniation, with resulting life threatening brain stem compression. Hakim's triad of gait instability, urinary incontinence and dementia is a relatively typical manifestation of the distinct entity normal pressure hydrocephalus (NPH). Focal neurological deficits may also occur, such as abducens nerve palsy and vertical gaze palsy (Parinaud syndrome due to compression of the quadrigeminal plate, where the neural centers coordinating the conjugated vertical eye movement are located). The symptoms depend on the cause of the blockage, the person's age, and how

much brain tissue has been damaged by the swelling. In infants with hydrocephalus, CSF builds up in the central nervous system, causing the fontanelle (soft spot) to bulge and the head to be larger than expected. Early symptoms may also include:

Eyes that appear to gaze downward (Sundowning) Irritability Seizures Separated sutures Sleepiness Vomiting

Symptoms that may occur in older children can include:

Brief, shrill, high-pitched cry Changes in personality, memory, or the ability to reason or think Changes in facial appearance and eye spacing Crossed eyes or uncontrolled eye movements Difficulty feeding Excessive sleepiness Headache Irritability, poor temper control Loss of bladder control (urinary incontinence) Loss of coordination and trouble walking Muscle spasticity (spasm) Slow growth (child 05 years) Slow or restricted movement Vomiting


Hydrocephalus is usually due to blockage of cerebrospinal fluid (CSF) outflow in the ventricles or in the subarachnoid space over the

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brain. In a person without hydrocephalus, CSF continuously circulates through the brain, its ventricles and the spinal cord and is continuously drained away into the circulatory system. Alternatively, the condition may result from an overproduction of the CSF fluid, from a congenital malformation blocking normal drainage of the fluid, or from complications of head injuries or infections. Compression of the brain by the accumulating fluid eventually may cause convulsions and mental retardation. These signs occur sooner in adults, whose skulls no longer are able to expand to accommodate the increasing fluid volume within. Fetuses, infants, and young children with hydrocephalus typically have an abnormally large head, excluding the face, because the pressure of the fluid causes the individual skull bones which have yet to fuse to bulge outward at their juncture points. Another medical sign, in infants, is a characteristic fixed downward gaze with whites of the eyes showing above the iris, as though the infant were trying to examine its own lower eyelids.

Spontaneous intracerebral intraventricular hemorrhage hydrocephalus shown on CT scan

and with

The elevated intracranial pressure may cause compression of the brain, leading to brain damage and other complications. Conditions among affected individuals vary widely. If the foramina (pl.) of the fourth ventricle or the cerebral aqueduct are blocked, cereobrospinal fluid (CSF) can accumulate within the ventricles. This condition is called internal hydrocephalus and it results in increased CSF pressure. The production of CSF continues, even when the passages that normally allow it to exit the brain are blocked. Consequently, fluid builds inside the brain causing pressure that compresses the nervous tissue and dilates the ventricles. Compression of the nervous tissue usually results in irreversible brain damage. If the skull bones are not completely ossified when the hydrocephalus occurs, the pressure may also severely enlarge the head. The cerebral aqueduct may be blocked at the time of birth or may become blocked later in life because of a tumor growing in the brainstem. Internal hydrocephalus can be successfully treated by placing a drainage tube (shunt) between the brain ventricles and abdominal cavity to eliminate the high internal pressures. There is some risk of infection being introduced into the brain through these shunts, however, and the shunts must be replaced as the person grows. A subarachnoid hemorrhage may block the return of CSF to the circulation. If CSF accumulates in the subarachnoid

Pediatric conditions Hand notes

space, the condition is called external hydrocephalus. In this condition, pressure is applied to the brain externally, compressing neural tissues and causing brain damage. Thus resulting in further damage of the brain tissue and leading to necrotization.

Hydrocephalus can be caused by impaired cerebrospinal fluid (CSF) flow, reabsorption, or excessive CSF production.

granulations, which are located along the superior sagittal sinus and is the site of cerebrospinal fluid resorption back into the venous system. Various neurologic conditions may result in communicating hydrocephalus, including subarachnoid/intraventricular hemorrhage, meningitis and congenital absence of arachnoidal granulations (Pacchioni's granulations). Scarring and fibrosis of the subarachnoid space following infectious, inflammatory, or hemorrhagic events can also prevent resorption of CSF, causing diffuse ventricular dilatation.

The most common cause of hydrocephalus is CSF flow obstruction, hindering the free passage of cerebrospinal fluid through the ventricular system and subarachnoid space (e.g., stenosis of the cerebral aqueduct or obstruction of the interventricular foramina - foramina of Monro secondary to tumors, hemorrhages, infections or congenital malformations). Hydrocephalus can also be caused by overproduction of cerebrospinal fluid (relative obstruction) (e.g., papilloma of choroid plexus).

Based on its underlying mechanisms, hydrocephalus can be classified into communicating and non-communicating (obstructive). Both forms can be either congenital or acquired. Communicating Communicating hydrocephalus, also known as non-obstructive hydrocephalus, is caused by impaired cerebrospinal fluid resorption in the absence of any CSF-flow obstruction between the ventricles and subarachnoid space. It has been theorized that this is due to functional impairment of the arachnoid

Normal pressure hydrocephalus (NPH) is a particular form of communicating hydrocephalus, characterized by enlarged cerebral ventricles, with only intermittently elevated cerebrospinal fluid pressure. The diagnosis of NPH can be established only with the help of continuous intraventricular pressure recordings (over 24 hours or even longer), since more often than not instant measurements yield normal pressure values. Dynamic compliance studies may be also helpful. Altered compliance (elasticity) of the ventricular walls, as well as increased viscosity of the cerebrospinal fluid, may play a role in the pathogenesis of normal pressure hydrocephalus. Hydrocephalus ex vacuo also refers to an enlargement of cerebral ventricles and subarachnoid spaces, and is usually due to brain atrophy (as it occurs in dementias), post-traumatic brain injuries and even in some psychiatric disorders, such as schizophrenia. As opposed to hydrocephalus, this is a compensatory enlargement of the CSF-spaces in response to brain parenchyma loss - it is not the result of increased CSF pressure.

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Non-communicating Non-communicating hydrocephalus, or obstructive hydrocephalus, is caused by a CSF-flow obstruction ultimately preventing CSF from flowing into the subarachnoid space (either due to external compression or intraventricular mass lesions).

Foramen of Monro obstruction may lead to dilation of one or, if large enough (e.g., in Colloid cyst), both lateral ventricles. The aqueduct of Sylvius, normally narrow to begin with, may be obstructed by a number of genetically or acquired lesions (e.g., atresia, ependymitis, hemorrhage, tumor) and lead to dilation of both lateral ventricles as well as the third ventricle. Fourth ventricle obstruction will lead to dilatation of the aqueduct as well as the lateral and third ventricles (e.g., Chiari malformation). The foramina of Luschka and foramen of Magendie may be obstructed due to congenital failure of opening (e.g., Dandy-Walker malformation).

In newborns and toddlers with hydrocephalus, the head circumference is enlarged rapidly and soon surpasses the 97th percentile. Since the skull bones have not yet firmly joined together, bulging, firm anterior and posterior fontanelles may be present even when the patient is in an upright position. The infant exhibits fretfulness, poor feeding, and frequent vomiting. As the hydrocephalus progresses, torpor sets in, and the infant shows lack of interest in his surroundings. Later on, the upper eyelids become retracted and the eyes are turned downwards (due to hydrocephalic pressure on the mesencephalic tegmentum and paralysis of upward gaze). Movements become weak and the arms may become tremulous. Papilledema is absent but there may be reduction of vision. The head becomes so enlarged that the child may eventually be bedridden.

Congenital Arnold-Chiari malformation and DandyWalker malformation The cranial bones fuse by the end of the third year of life. For head enlargement to occur, hydrocephalus must occur before then. The causes are usually genetic but can also be acquired and usually occur within the first few months of life, which include 1) intraventricular matrix hemorrhages in premature infants, 2) infections, 3) type II Arnold-Chiari malformation, 4) aqueduct atresia and stenosis, and 5) Dandy-Walker malformation.

About 80-90% of fetuses or newborn infants with spina bifidaoften associated with meningocele or myelomeningocele develops hydrocephalus. Acquired This condition is acquired as a consequence of CNS infections, meningitis, brain tumors, head trauma, intracranial hemorrhage (subarachnoid or intraparenchymal) and is usually extremely painful. Effects Because hydrocephalus can injure the brain, thought and behavior may be adversely affected. Learning disabilities including short-term memory loss are common among

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those with hydrocephalus, who tend to score better on verbal IQ than on performance IQ, which is thought to reflect the distribution of nerve damage to the brain. However the severity of hydrocephalus can differ considerably between individuals and some are of average or above-average intelligence. Someone with hydrocephalus may have motion and visual problems, problems with coordination, or may be clumsy. They may reach puberty earlier than the average child (see precocious puberty). About one in four develops epilepsy. Treatment Hydrocephalus treatment is surgical, generally creating various types of cerebral shunts. It involves the placement of a ventricular catheter (a tube made of silastic), into the cerebral ventricles to bypass the flow obstruction/malfunctioning arachnoidal granulations and drain the excess fluid into other body cavities, from where it can be resorbed. Most shunts drain the fluid into the peritoneal cavity (ventriculoperitoneal shunt), but alternative sites include the right atrium (ventriculo-atrial shunt), pleural cavity (ventriculo-pleural shunt), and gallbladder. A shunt system can also be placed in the lumbar space of the spine and have the CSF redirected to the peritoneal cavity (Lumbarperitoneal shunt). An alternative treatment for obstructive hydrocephalus in selected patients is the endoscopic third ventriculostomy (ETV), whereby a surgically created opening in the floor of the third ventricle allows the CSF to flow directly to the basal cisterns, thereby

shortcutting any obstruction, as in aqueductal stenosis. This may or may not be appropriate based on individual anatomy. Shunt complications Examples of possible complications include shunt malfunction, shunt failure, and shunt infection, along with infection of the shunt tract following surgery (the most common reason for shunt failure is infection of the shunt tract). Although a shunt generally works well, it may stop working if it disconnects, becomes blocked (clogged), infected, or it is outgrown. If this happens the cerebrospinal fluid will begin to accumulate again and a number of physical symptoms will develop (headaches, nausea, vomiting, photophobia/light sensitivity), some extremely serious, like seizures. The shunt failure rate is also relatively high (of the 40,000 surgeries performed annually to treat hydrocephalus, only 30% are a patient's first surgery) and it is not uncommon for patients to have multiple shunt revisions within their lifetime. The diagnosis of cerebrospinal fluid buildup is complex and requires specialist expertise. Another complication can occur when CSF drains more rapidly than it is produced by the choroid plexus, causing symptoms -listlessness, severe headaches, irritability, light sensitivity, auditory hyperesthesia (sound sensitivity), nausea, vomiting, dizziness, vertigo, migraines, seizures, a change in personality, weakness in the arms or legs, strabismus, and double vision - to

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appear when the patient is vertical. If the patient lies down, the symptoms usually vanish in a short amount of time. A CT scan may or may not show any change in ventricle size, particularly if the patient has a history of slit-like ventricles. Difficulty in diagnosing overdrainage can make treatment of this complication particularly frustrating for patients and their families. Resistance to traditional analgesic pharmacological therapy may also be a sign of shunt overdrainage or failure. Diagnosis of the particular complication usually depends on when the symptoms appear - that is, whether symptoms occur when the patient is upright or in a prone position, with the head at roughly the same level as the feet.

inguinal creases, and shortening of the affected leg. 6. Clubfoot: flexion at the ankle with inversion of the heel and fore foot.

Orthopedic anomalies:

1. Osteogenesis imperfecta 2. Arthrogryposis multiplex congenital 3. Talipes equinovarus 4. Torticollis: is a condition in which there is a lateral inclination and a rotation of the head away from the midline of the body with limitation of the range of motion of the neck. 5. Congenital dislocation of the hip: in this condition the femur head is completely dislocated from the acetabulum. The infant shows limited ability to abduct the hip, asymmetry of the gluteal skin folds and
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Osteogenesis imperfecta
Osteogenesis imperfecta (oi and sometimes known as brittle bone disease, or "lobstein syndrome" is a genetic bone disorder. People with oi are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of type-i collagen. This deficiency arises from an amino acid substitution of glycine to bulkier amino acids in the collagen triple helix structure. The larger amino acid sidechains create steric hindrance that creates a bulge in the collagen complex, which in turn influences both the molecular nanomechanics as well as the interaction between molecules, which are both compromised. As a result, the body may respond by hydrolyzing the improper collagen structure. If the body does not destroy the improper collagen, the relationship between the collagen fibrils and hydroxyapatite crystals to form bone is altered, causing brittleness. Another suggested disease mechanism is that the stress state within collagen fibrils is altered at the locations of mutations, where locally larger shear forces lead to rapid failure of fibrils even at moderate loads as the homogeneous stress state found in healthy collagen fibrils is lost. These recent works suggest that oi must be understood as a multi-scale phenomenon, which involves mechanisms at the genetic, nano-, microand macro-level of tissues. Types There are eight different types of oi, type i being the most common, though the symptoms vary from person to person Type Description

I Ii Iii Iv

Mild Severe and usually lethal in the perinatal period Considered progressive and deforming Deforming, but with normal scleras Shares the same clinical features of iv, but has unique histologic findings ("mesh-like") Shares the same clinical features of iv, but has unique histologic findings ("fish scale") Autosomal recessive, associated with cartilage associated protein Severe to lethal, autosomal recessive, associated with the protein leprecan




Type i

Blue sclera in osteogenesis imperfecta. Collagen is of normal quality but is produced in insufficient quantities:

Bones fracture easily


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Slight spinal curvature Loose joints Poor muscle tone Discoloration of the sclera (whites of the eyes), usually giving them a blue-gray color. The blue-gray color of the sclera is due to the underlying choroidal veins which show through. This is due to the sclera being thinner than normal because of the defective type i collagen not forming correctly. Early loss of hearing in some children Slight protrusion of the eyes

beading. Type iic demonstrates thin and longer long bones with thin and beaded ribs. Type iii Collagen improperly formed. collagen is made but it is defective


Ia and ib are defined to be distinguished by the absence/presence of dentinogenesis imperfecta (characterized by opalescent teeth; absent in ia, present in ib). Life expectancy is slightly reduced compared to the general population due to the possibility of fatal bone fractures and complications related to oi type i such as basilar invagination. Type ii Collagen is not of a sufficient quality or quantity

Bones fracture easily, sometimes even before birth Bone deformity, often severe Respiratory problems possible Short stature, spinal curvature and sometimes barrel-shaped rib cage Triangular face Loose joints Poor muscle tone in arms and legs Discolouration of the sclera (the 'whites' of the eyes), often turning blue during severe -break. Early loss of hearing possible

Type iii is distinguished among the other classifications as being the "progressive deforming" type, wherein a neonate presents with mild symptoms at birth and develops the aforementioned symptoms throughout life. Lifespan may be normal, albeit with severe physical handicapping. Type iv

Most cases die within the first year of life due to respiratory failure or intracerebral hemorrhage Severe respiratory problems due to underdeveloped lungs Severe bone deformity and small stature

Collagen quantity is sufficient but is not of a high enough quality

Type ii can be further subclassified into groups a, b, c, which are distinguished by radiographic evaluation of the long bones and ribs. Type iia demonstrates broad and short long bones with broad and beaded ribs. Type iib demonstrates broad and short long bones with thin ribs that have little or no

Bones fracture easily, especially before puberty Short stature, spinal curvature and barrel-shaped rib cage Bone deformity is mild to moderate Early loss of hearing

Similar to type i, type iv can be further subclassified into types iva and ivb characterized by absence (iva) or presence (ivb) of dentinogenesis imperfecta.

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Type v

of fractures. At the present time, the cause for type v is unknown, though doctors have determined that it is inherited. Type vi Same clinical features as type iv. Distinguished histologically by "fish-scale" bone appearance. Oi type Type vii

v in an adult

In 2005 a recessive form called "type vii" was discovered (phenotype severe to lethal). Mutations in the gene crtap causes this type.

Type viii Oi caused by mutation in the gene lepre1 is classified as type viii. Treatment At present there is no cure for oi. Treatment is aimed at increasing overall bone strength to prevent fracture and maintain mobility. There have been many clinical trials performed with fosamax (alendronate), a drug used to treat those experiencing brittleness of bones due to osteoporosis. Higher levels of effectiveness apparently are to be seen in the pill form versus the iv form, but results seem inconclusive. The u.s. Food and drug administration (fda) will not approve fosamax as a treatment for oi because long term effects of the drug have not been fully researched yet, although it is often used in preteens, instead of pamidronate. Bone infections are treated as and when they occur with the appropriate antibiotics and antiseptics.
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Oi type v in a child Same clinical features as type iv. Distinguished histologically by "mesh-like" bone appearance. Further characterized by the "v triad" consisting of a) radio-opaque band adjacent to growth plates, b) hypertrophic calluses at fracture sites, and c) calcification of the radio-ulnar interosseous membrane. Oi type v leads to calcification of the membrane between the two forearm bones, making it difficult to turn the wrist. Another symptom is abnormally large amounts of repair tissue (hyperplasic callus) at the site

Physiotherapy Physiotherapy used to strengthen muscles and improve motility in a gentle manner, while minimizing the risk of fracture. This often involves hydrotherapy and the use of support cushions to improve posture. Individuals are encouraged to change positions regularly throughout the day in order to balance the muscles which are being used and the bones which are under pressure. Children often develop a fear of trying new ways of moving due to movement being associated with pain. This can make physiotherapy difficult to administer to young children. Physical aids

although this has not been conclusively demonstrated. Pamidronate is used in usa, uk and canada. Some hospitals, such as most shriners, provide it to children. Some children are under a study of pamidronate. Marketed under the brand name aredia, pamidronate is usually administered as an intravenous infusion, lasting about three hours. The therapy is repeated every three to six months, and lasts for the life of the patient. Common side effects include bone pain, low calcium levels, nausea, and dizziness. According to recent results, extended periods of pamidrinate, (i.e.;6 years) can actually weaken bones, so patients are recommended to get bone densities every 6 months-1 year, to monitor bone strength. Surgery

With adaptive equipment such as crutches, wheelchairs, splints, grabbing arms, and/or modifications to the home many individuals with oi can obtain a significant degree of autonomy. Bisphosphonates Bisphosphonates (bps), particularly those containing nitrogen, are being increasingly administered to increase bone mass and reduce the incidence of fracture. Bps can be dosed orally (e.g. Alendronate) or by intravenous injection/infusion (e.g. Pamidronate, zoledronic acid). Bp therapy is being used increasingly for the treatment of oi. It has proven efficiency in reducing fracture rates in children, however only a trend towards decreased fracture was seen in a small randomized study in adults. While decreasing fracture rates, there is some concern that prolonged bp treatment may delay the healing of oi fractures,

Metal rods can be surgically inserted in the long bones to improve strength, a procedure developed by harold a. Sofield, md, at shriners hospitals for children in chicago. During the late 1940s, sofield, chief of staff at shriners hospitals in chicago, worked there with large numbers of children with oi and experimented with various methods to strengthen the bones in these children. In 1959, with edward a. Miller, md, sofield wrote a seminal article describing a solution that seemed radical at the time: the placement of stainless steel rods into the intramedullary canals of the long bones to stabilize and strengthen them. His treatment proved extremely useful in the rehabilitation and prevention of fractures; it was adopted throughout the world and still forms the basis for orthopedic treatment of oi. Spinal fusion can be performed to correct scoliosis, although the inherent bone fragility makes this operation more complex in oi patients. Surgery for basilar

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impressions can be carried out if pressure being exerted on the spinal cord and brain stem is causing neurological problems.

Arthrogryposis multiplex congenital

Definition: Arthrogryposis multiplex congenital is disorders characterized by multiple joint contractures through the body present at birth. Types Arthrogryposis includes more than twohundred variations of contractures that are present. Generally the conditions of arthrogryposis can be divided into three groups. Disorders involving mainly the person's limbs Disorders including limb involvement and the person's central nervous system. Example : 1) disorders with mainly limb involvement: Amyoplasia. - sporadic condition. - distinct appearance of limbs and joints - normal iq.

Other distal arthrogryposes. There are 7 subtypes, classified as type i, type ii and types iia to iie.

2) disorders with involvement of limbs and other body parts: - multiple pterygium syndrome (pterygium
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meaning 'wing' and referring to triangular membranes affecting the neck, knees, elbows, ankles, etc.): - autosomal recessive: multiple joint contractures with marked pterygia (dysmorphic facies and cervical vertebral anomalies). - autosomal dominant: multiple pterygia (with or without mental retardation).

- Fails to nourish the child's nerves that lead to bones or muscles that make up their joints to move with full range. - Decreased space in the womb for the fetus to move around, maternal fever, viral infections, and environmental factors may lead to arthrogryposis . Maternal neuromuscular diseases - myotonic dystrophy -inherited disorder, muscles contract but have decreasing power to relax. - myasthenia gravis. -chronic autoimmune neuromuscular disease characterized by varying degrees of weakness of the skeletal (voluntary) muscles of the body.

Other syndromes: Freeman-sheldon syndrome. Condition that primarily affects the face, hands, and feet. People with this disorder have a distinctive facial appearance. Osteochondrodysplasias. A group of hereditary disorders in which bone or cartilage grows abnormally,and skeleton develops abnormally. Chromosomal disorders. - cerebro-oculo-facial skeletal syndrome is a genetic, degenerative disorder that involves the brain and the spinal cord.

Clinical presentation 1) Early sign of arthrogryposis : Specific positioning present at birth - internal rotation at the shoulders, extension at the elbows, and flexion at the wrists. - severe equinovarus deformity of the feet is frequently present

Causes Children with arthrogryposis experience : Neurologic deficits - loss of neurons and multiple congenital joint contractures of a person's body at the time of their birth. Connective defects tissue and skeletal

2) Child with arthrogryposis have: Flexed joint Limited joint motion Muscle paralysis Reduced facial gesticulation Bone and joint deformity

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Joint enlargement Thickened skin over joints Cylindrical elbows Premature synostosis Palate defect Spinal cord motor degeneration Muscle weakness Multiple joint contractures

1 ) surgery Can relieve the abnormal tension shortened connective tissue and muscle structures place on the joints. neuron Restructure bone tissue 2) Physical therapy Helps strengthen the tissues and extend range of motion.

Therefore, arthrogryposis child have difficulty in moving from one place to another. Investigation In order to distinguish between the different types of arthrogryposis, doctors can use:

Reference: Http:// /arthrogryposis.php Http:// wpcontent/uploads/2008/02/kyas %20krusade%20arthrogrypos is%20education%20page.pdf

1) X-rays - detecting abnormalities in at child's pelvis, limbs, and spine 2) Magnetic resonance imaging (MRI) scan - to determine the extent of central nervous system involvement in AMC 3 ) Computed tomography (CT) scan - detecting myopathic forms 4) Ultrasound - can detect the changes in soft tissue structure and bone fusions at the joints before birth. 5) genetic testing - methods and procedures to determine the presence of a genetic disorder. Medical management the neurogenic and

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Talipes equinovarus
Definition: Talipes equinovarus or congenital clubfoot is a common abnormality of foot developmental deformity of the foot in which one or both feet are excessively plantar flexed and discovered at the time of birth. Types There are various types of talipes equinovarus but three common types of talipes equinovarus are talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. Talipes equinovalgus is a deformity that is a combination of talipes equinus and talipes valgusmarked by a plantar-flexed, everted, and abducted foot Talipes calcaneovarus is a talipes calcaneus and talipes varus combined; the foot is dorsiflexed, inverted, and adducted Talipes calcaneovalgus is a talipes calcaneus and talipes valgus combined; the foot is dorsiflexed, everted, and abducted Causes There are three main causes that may lead to talipes equinovarus : Congenital - genetic that are inherited from parents. Position of baby - position of baby in the womb; too little fluid surrounding the baby, a condition known as oligohydramnios.

Neuromuscular disorder. - Abnormalities of the nervous system or muscles - Part of a syndrome of birth defects. Clinical presentation The foot is turned inward from the normal position The heel is higher than the ball of the foot. They also have stiff foot where the joints cant be moved normally. Their calf muscles also smaller than normal. Complication in mobility

Investigation Talipes equinovarus is usually diagnosed after a baby is born. However, as the technology of : 1) Ultrasound scanning during pregnancy improves, increasingly, talipes equinovarus is being detected during scanning before a baby is born. 2) Examined and checked appearance of the child feet. initial

- the doctor examinate the child`s feet by looking at initial mobility of the feet and manipulation. - initial mobility of baby`s feet by varying degrees of deformity - doctor will investigate the joints that were rigid and more mobile.

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3) x-rays - detecting abnormalities in at child`s feet

Medical management 1) Gentle manipulation means - gently holding and stretching the foot into a more natural position. - added use of strapping, splints, plaster casts or special boots, all of which help maintain the position of the foot. 2) Surgery also can help cure talipes equinovarus - if foot position isnt achieved by the time your baby is about 3 months old. - often carried out on the tendons and muscles of the foot to correct their length and loose them. References : Http:// lth/talipes-equinovarus%28club-foot%29.htm Http:// anet/nelson%20pediatric/new born/clubfoot%5b1%5d.pdf Http:// information/baby/health/talip es.asp

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Congenital Hip Dislocation

Definition The pelvis and femur are the two main bones that form the hip joint. Articulation of the head of the femur and the acetabulum of the pelvis make the hip joint an enarthrodial joint. Some children are born with a hip problem called congenital hip dislocation (dysplasia). The condition is usually diagnosed as soon as a baby is born. Mostly, it affects the left hip in first-born children, girls, and babies born in the breech position. In hip dislocation, the ball at the top of the thighbone (femoral head) does not sit securely in the socket (acetabulum) of the hip joint. Surrounding ligaments may also be loose and stretched. The ball may be loose in the socket or completely outside of it. Causes

Symptoms A clicking sound when the

newborns legs are pushed apart Affected leg will look shorter than the other one Skin folds in the thighs will appear uneven Less flexibility on the leg Limping when walking

Diagnosis A very careful physical examination of a newborn usually distinguishes hip

dislocation. In older infants and children, hip x-rays can confirm the diagnosis. Ortolani maneuver: the examiner puts the newborn baby in a position of contralateral hip is held still while the thigh of the hip being tested is abducted and gently pulled anteriorly. The acetabulum is not fully developed if the examiner hears the clunk sound. Barlow maneuver: it is done by adducting

Female newborn Breech birth Family history of congenital hip dislocation

the hip while pushing the thigh posteriorly. If the hip goes out of the socket it means it is dislocated and the newborn has a congenital hip dislocation. They examine the baby by laying the baby on its back and separating their two legs apart if a clicking sound can

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be heard then that means that the baby may have this condition. Tonic labyrinthine reflex (tlr): reflex presents in a newborn babies. It is suggested that in order to do this reflex exercise the head is tilting back which causes the babys back to become stiffened, the legs are straightened and pushed together with the toes to point, and the arms bent at the elbows and wrists. Also the hands will be put into a fist are curled. Treatment Treatment of dislocation depends on the age of the child. In a newborn ,a device called a pavlik harness will ensure the hip bone in the socket and stimulate normal hip development. If that method doesnt work, the hip bone can often be pushed back into place in children aged 6 months to 2 years. Called closed reduction under anesthesia, if fails, open surgery to reposition the hip may be necessary.

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Introduction Torticollis is caused by the shortening of muscles in the neck, particularly the sternocleidomastoid (scm) muscle. This can occur from placement in utero, the birth process or being constantly in the same position in car seats, swings, etc. And not having the opportunity to turn their neck to both sides. Often, torticollis causes plagiocephaly since the child is favoring one side of the neck and pressure is always on the same side of the head. They are many type of symptom that can be cause for this disease. The causes is base on the type of this disease, for example head pain, neck injury, and osteoarthritis Definition Torticollis, or wryneck, is a stiff neck associated with muscle spasm, classically causing lateral flexion contracture of the cervical spine musculature (a condition in which the head is tilted to one side). The muscles affected are principally those supplied by the spinal accessory nerve. Types 1. Congenital muscle torticollis 2. Acquired torticollis Congenital muscular torticollis The etiology of congenital muscular torticollis is unclear. Birth trauma or intrauterine malposition is also considered to cause damage to the sternocleidomastoid muscle in the neck. This results in a shortening or

excessive contraction of the sternocleidomastoid muscle, often with limited range of motion in both rotation and lateral bending. The head is typically tilted in lateral bending toward the affected muscle and rotated toward the opposite side. The condition may be caused by scars, disease of cervical vertebrae, adenitis, tonsillitis, rheumatism, enlarged cervical glands, retropharyngeal abscess, or cerebellar tumors. It may be spasmodic (clonic) or permanent (tonic). The latter type may be due to pott's disease (tuberculosis of the spine). The reported incidence of congenital torticollis is 0.3-2.0 %. Sometimes a mass (a sternocleidomastoid tumor) in the affected muscle may be noted, this appears at the age of two to four weeks, it disappears gradually, but sometimes the muscle becomes fibrotic. It is likely to disappear within the first five to eight months of life. The condition is treated initially with physical therapy, with stretching to correct the tightness, strengthening exercises to achieve muscular balance, handling to stimulate symmetry. A tot collar is sometimes used. About 510% require "surgical release" of the muscle if stretching fails. Infants with torticollis have a higher risk for plagiocephaly. Altering the head position and using a pillow when supine helps as does giving a lot of tummy time when awake. Other less common causes such as tumors, infections, ophthalmologic problems and other abnormalities should be ruled out. For example, ocular torticollis due to cranial nerve

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iv palsy should not be treated with physical therapy. In this situation, the torticollis is a neurological adaptation designed to maintain binocularity. Treatment should be targeted at the extraocular muscle imbalance. In general, if torticollis is not corrected facial asymmetry can develop. Head position should be corrected before adulthood (to about the age of 18 there can be improvement). Younger children show the best results. Congenital torticollis develops in the infant but can be diagnosed at older ages, even in adults who were missed as infants/children. The word torticollis means wry neck: acquired torticollis is not the same as congenital torticollis. All ages can suffer from acquired torticollis.

Common treatment might involve a multiphase process: 1. Low-impact exercise to increase strong form neck stability 2. Manipulation of the neck by a chiropractor, physical therapist, or d.o. 3. Extended heat application. 4. Repetitive shiatsu massage. An osteopathic physician (d.o.) May choose to use cranial techniques to properly position the occipital condyles - thereby relieving compression of cranial nerve xi in children with torticollis. This is an example of osteopathic manipulative treatment. Acquired torticollis Acquired torticollis occurs because of another problem and usually presents in previously normal children and adults.

A self-limiting spontaneously occurring form of torticollis with one or more painful neck muscles is by far the most common ('stiff neck') and will pass spontaneously in 14 weeks. Usually the sternocleidomastoid muscle or the trapezius muscle is involved. Sometimes draughts, colds or unusual postures are implicated; however in many cases no clear cause is found. These episodes are rarely seen by doctors other than a family physician. Trauma to the neck can cause atlantoaxial rotatory subluxation, in which the two vertebrae closest to the skull slide with respect to each other, tearing stabilizing ligaments; this condition is treated with traction to reduce the subluxation, followed by bracing or casting until the ligamentous injury heals. Tumors of the skull base (posterior fossa tumors) can compress the nerve supply to the neck and cause torticollis, and these problems must be treated surgically. Infections in the posterior pharynx can irritate the nerves supplying the neck muscles and cause torticollis, and these infections may be treated with antibiotics if they are not too severe, but could require surgical debridement in intractable cases. Ear infections and surgical removal of the adenoids can cause an entity known as grisel's syndrome, a subluxation of the upper cervical joints, mostly the atlantoaxial joint, due to inflammatory laxity of the ligaments caused by an infection. This bridge must either be broken through manipulation of the neck, or surgically resected. The use of certain drugs, such as antipsychotics, can cause torticollis. Antiemetics - neuroleptic class phenothiazines

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There are many other rare causes of torticollis.

Spasmodic torticollis Torticollis with recurrent but transient contraction of the muscles of the neck and esp. Of the sternocleidomastoid. "intermittent torticollis . "cervical dystonia"

Treatment: botulinum toxin has been used to inhibit the spastic contractions of the affected muscles Clinical presentation Neck pain Neck stiffness Neck tenderness(decreased range of motion of the neck) Severs spasm of the neck muscle(head is tilted to one side) Mild headache

such as developmental dysplasia of the hip and clubfoot should be examined. Radiographs of the cervical spine should be obtained to rule out obvious bony abnormality, and mri should be considered if there is concern about structural problems or other conditions. Evaluation by an ophthalmologist should be considered in children to ensure that the torticollis is not caused by vision problems (iv cranial nerve palsy, nystagmus-associated "null position," etc.). Most cases in infants respond well to physical therapy. Other causes should be treated as noted above.

Medical management Treatments for congenital torticollis involve stretching at shortened neck muscle. The stretching that been done to this case must be in passive stretching. This type of treatment is used to infants and small children. This treatment oftenly successful especially when it starts within 3 month of birth. Surgery treatment may be needed to correct the neck muscle, for the preschool year (4-6 years old), if other treatment like passive stretching and drugs failed. Acquired torticollis is treated by identifying the causes of disorder, application of heat, traction to cervical spine and massage may help to release neck and head pain. Stretching exercises may help with muscle spasm.


Evaluation of a child with torticollis begins with history taking to determine circumstances surrounding birth and any possibility of trauma or associated symptoms. Physical examination reveals decreased rotation and bending to the side opposite from the affected muscle. Some say that congenital cases more often involve the right side, but there is not complete agreement about this in published studies. Evaluation should include a thorough neurologic examination, and the possibility of associated conditions

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Drugs or potion that often used to treat this condition include an anticholierngic drug called baclofen. Injection of botilium toxin can temporarily relive the torticollis, but repeat injection usually needed for every 3 months. Surgery are rarely needed for this disease

4. Yu c-c, wong f-w, lo l-j, et al.

Craniofacial deformity in patients with uncorrected congenital muscular torticollis: an assessment from three-dimensional computed tomography imaging. Plast reconstr surg. 2004;113:2433.

Conclusion As a conclusion, we know that tortticollis is a disease that can get from birth or when we get head trauma or a pain that can damage sternoclaidomastoid muscle. Eventough there are many treatments that we can get for this disease. We still need to take a precaution and care for our neck , because an injured around the neck is really pain to be cure specially to do stretching treatment and it must done for many time until our sternocleidomastoid muscle can relax like usual . References: 1. Cheng jcy, wong mwn, tang sp, chen tmk, mphil, shum slf, wong emc. Clinical determinants of the outcome of manual stretching in the treatment of congenital muscular torticollis in infants. Bone joint surg. 2001;83:679-687. 2. Tang sf, hsu kh, wong am hsu cc, chang ch. Logitudinal followup study of ultrasonography in congenital muscular torticollis. Clin orthop. 2002;403:179-185. 3. Hsu tc, wang cl, wong mk, hsu kh, tang ft, chen ht. Correlation of clinical and ultrasonographic features in congenital muscular torticollis. Arch phys med rehabil. 1999;80:637-641.
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Introduction Hypotonia in general is a disorder in itself but it is also looked at as condition which is sign of various disorders and indicates onset of problem related to muscle tone or motor nerve that controls movements and functionally of muscle. Diagnosis of hypotonia its early stage may help in treating the patient. To detect hypotonia from early stage is simple but to diagnosing the underlying cause is difficult and unsuccessful. Hypotonia is also one of the sequelae of prematurity. -

such as underlying central nervous system disorder, genetic disorder, or muscle disorder. A lack of muscle tone and lack of muscle strength are not the same thing because a muscle can be strong as a bodybuilders and still have low tone. A child with low muscle tone has muscles that are slow to start a muscle contraction. Muscles contract very slowly in response to a stimulus and cannot maintain a contraction for as long as a normal muscle. Because low-toned muscles do not fully contract before they again relax, they remain loose and very stretchy, never achieving their full potential of sustaining a muscle contraction over time.

Definition Hypotonia is the state of low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength Muscle tone indicates the ability of a muscle to respond to a stretch increased or decreased. 1. Explanation The low muscle tone can be caused by a variety of conditions

2. Others name for hypotonia - Hypotonia also known as floppy infant syndrome that is used to described as feeling and appearing as though they are rag dolls a sack of jello or a pillow full of pudding easily slipping through ones hand. Benign congenital hypotonia Congenital hypotonia Congenital muscle hypotonia Congenital muscle weakness Amyotonia congenital Infantile hypotonia

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A chromosome abnormality, usually due to an extra copy of the twenty-first chromosome.

Congenital cerebral ataxia - A movement disorder which with its sudden onset, often following an infectious viral disease, causes hypotonia. Familial dysautonomia (riley-day syndrome) - An inherited disorder that affects the function of nerves throughout the body. Prader-willi sydrome - A congenital disease characterized by obesity, severe hypotonia, and decreased mental capacity. Kernicterus (rh incompatibility) - A condition that develops when there is a difference in rh blood type between that of the mother (rh negative) and that of the fetus (rh positive). Infant botulism - A type of botulism, in which clostridium botulinum bacteria grow within an infant's digestive tract, producing a toxin which is potentially life-threatening. Congenital hypothroidism

Etiology (causes) Some causes of hypotonia are often uknown origin. Scientist believes that they may be caused by: Trauma Environmental factors Genetic Muscles Central nervous system

The national institutes of health list that some condition known to cause hypotonia includes: Down syndrome(trisomy 21)

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A disorder that results from decreased thyroid hormone production. Muscular dystrophy - A group of disorders characterized by progressive muscle weakness and loss of muscle tissue. Myasthenia gravis - A neuromuscular disorder characterized by variable weakness of voluntary muscles, which often improves with rest and worsens with activity. The condition is caused by an abnormal immune response. Trisomy 13 - A syndrome associated with the presence of a third number 13 chromosome.

from parent, rolling over, sitting up without support, walking) 5. Depending on the nature, severity and location of the cerebral damage, hypotonia can affect the entire body or be limited to parts of the body. 6. Children with this disorder may not exhibit developmental disabilities or mental retardation. 7. A child with brain injury resulting in hypotonia may or may not experience a seizure disorder or movement disorder. Investigation 1. Molecular genetic studies for characteristic condition - Prader-willi syndrome is a complex genetic condition that affects many parts of the body and in infancy, this condition characterized by weak muscles tone(hypotonia) 2. Creatine phosphokinase(cpk) - To diagnose dermatomyositis or viral myositis. 3. X ray of the knee to look for patella calcification or stippling in peroxysomal disorder. 4. Appropriate biochemistry for metabolic reaction. 5. Electromyography(emg) and nerve conduction studies. Single fibre or repetitive stimulation for myasthenia. - Neurogenic pattern with reduced maximal effort, increased duration and amplitude of motor unit potentials and increased

Clinical presentation (sign & symptoms)

1. Children with hypotonia may exhibit poor head control and possibly fail to meet other development milestone such as sitting or crawling. 2. Decreased muscle tone which muscles feel soft and doughy (floppy muscle tone) and lack of gross motor. 3. A child may difficulties with sucking, swallowing and oral motor functions (dysphagia). 4. Failure to acquire motor skill developmental milestones (such as holding head up without support

Pediatric conditions Hand notes

numbers of polyphasic potential. Dna testing. 6. Neuroimaging of brain - To exclude structural brain abnormality, either isolated or in association with muscle disease. 7. Muscle biopsy - May be justified in the neonate if diagnosis cannot be secured by alternative method. 8. Serial ultrasound and doppler examination - To detect signs of fetal anemia such as increased blood flow velocities and monitor hydrops fetalis. 9. Quantitative analysis of maternal anti-rhd antibodies - An increasing level is a sign of fetal rh disease 10. Intrauterine blood transfusion - Intraperitoneal transfusion(blood transfused into fetal abdomen) - Intravascular transfusion(blood transfused into fetal umbilical vein) 11. Early delivery - Usually after about 36 weeks gestation. Medical management Medical management is very important to the hypotonia infant. Most of the cause of hypotonia currently have known cure, but we can learn how to cope with and overcome hypotonia symptoms.

Drugs Cardiomyopathy frequently coexists with neuromuscular conditions causing hypotonia Duchenne muscular dystrophy Oral prednisone is used to increase and sustain muscle strength Infantile botulism Supportive therapy for respiratory insuffiency or bulbar dysfunction botulinum immune globulin is beneficial if given within the first 3 days of illness Synthoid for hypothyroidism Folic acid supplementation Iodine supplementation eliminates mental retardation and bone deformities. Isolation measures to try and prevent opportunistic infection such as tuberculosis or pneumonia. Suggestions Dont take any drugs or poison during pregnancy and all stage of pregnancy, it may cause the baby expose to any disorder. Good prenatal care Rehabilitation Children with hypotonia can benefits greatly from consistent, physical, occupational and speech therapy

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To strengthen diminished or hypotonic muscle group and in some cases prevent muscular atrophy and contractures of the affected joint.

Diagnosis Diagnosing a patient includes obtaining family medical history and a physical examination. May include such additional tests as: - Computerized tomography (ct) scans - Magnetic resonance imaging (mri) scans - Electroencephalogram (eeg) - Blood tests - Genetic testing (chromosome karyotyping) - Spinal taps - Electrotromyography muscle tests.

Hypotonia(floppy syndrome) from wikipedia the free encyclopedia. Hypotonia - baby, symptoms, definition, description, demographics, causes and symptoms, diagnosis from

References Jane case smith (5th edition) occupational therapy for children Pedretti (5th edition) occupational therapy for physical dysfuntion Stephan stobel, stephen d. Marks, peter k. Smith, magdi h. El habbal, lewis spitz (2007) paediatrics and child health. Encyclopedia of childrens health from
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Neurodevelopmental disorders
Definition A neurodevelopmental disorder is an impairment of the growth and development of the brain at central nervous system. This neurodevelopmental disorder cans effects emotion, learning ability and memory. Types of neurodevelopmental disorder 1. Cerebral palsy 2. Developmental delay

Cerebral Palsy
Definition: Cerebral palsy (CP) is a brain paralysis. Cerebral palsy is a static brain injury that is non- progressive disorder of posture and movement. Classification Classification based on type of movement disorder

Spastic type - there may be intermittent increased tone and pathological reflexes. Athetoid - this is characterised by increased activity (hyperkinesia). This has been described as 'stormy movement'. Ataxic type - there may be loss of orderly muscular co-ordination so that movements are performed with abnormal force, rhythm or accuracy. Mixed - there may be a combination of several forms. Classification based on distribution of motor involvement Motor deficits include:

Monoplegia Diplegia Hemiplegia Triplegia Quadriplegia Double hemiplegia

The severity of gross motor impairment is quantified using the Gross Motor Function Classification System. This facilitates initial assessment and monitoring response to therapy.4,5
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Classification based on a etiology Classification can be according the timing of the insult as prenatal (the most common), natal, or postnatal. Alternatively, it may depend on the actual cause, such as congenital (developmental, malformations, syndromic) or acquired (traumatic, infectious, hypoxic, ischaemic, TORCH (= toxoplasmosis, other, rubella, cytomegalovirus, herpes simplex) infections, and others). Causes Cerebral palsy may occur in prenatal, natal and post natal. Child with cerebral palsy experience: Brain damage failure of the brain to develop properly (developmental brain malformation) and neurological damage to the child's developing brain. Athetoid ; basal ganglia responsible for processing the signals that enable smooth, coordinated movements and maintaining body posture. Ataxia; cerebellum - effect sense of balance and depth perception. Rigid spastic; premotor cortex at cerebrum - uses information from other cortical regions to select movements appropriate to the context of the action. Atonic generalized atonic seizures : entire brain partial atonic seizures : abnormal

activity in the frontal lobe or the parietal lobe. Mixed; both the pyramidal and extrapyramidal areas of the brain.

Clinical Presentation 1 ) Early signs children with cerebral palsy : Delayed milestones such as controlling head, rolling over, reaching hand, sitting support, crawling, walking Developing handedness before age 18 months. 2) Sign of children with cerebral palsy: Abnormal muscle tone Muscles may be very stiff (spastic) or unusually relaxed and in awkward positions Abnormal movements jerky movement and slow in writhing. Skeletal deformities People who have cerebral palsy on only one side may have shortened limbs on the affected side. Joint contractures severe stiffening of the joint Mental retardation Seizures Speech problems




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They are unable to control these muscles and thus cannot speak normally. Swallowing problems unable to control these muscles will have problems sucking, eating, drinking, and controlling their saliva. Therefore, they may drool. Hearing loss Vision problems weakness of the muscles that control eye movement. These people are often nearsighted. Dental problems they have more cavities than usual and difficulties brushing the teeth. Bladder control problems These are caused by lack of muscle control. Investigation Cerebral palsy is usually diagnosed when a child is very young. Sometimes a doctor suspects an infant has CP if the baby was premature and had complications shortly before or after birth, such as bleeding inside the brain or lung problems. Doctors may also consider CP a possibility if a baby doesn't sit up or begin to walk by a certain age. 1 ) Doctors check suspected child with a blood test. Blood test Hormonal investigation CP

Computed tomography (CT) scan This technique creates images that show the structure of the brain and the areas of damage. Magnetic resonance imaging (MRI) scan Create an anatomical picture of the brain's tissues and structures. Doctors prefer MRI imaging because it offers finer levels of detail. Cranial ultrasound. To scan the type of brain tissue that is damaged. 3) Doctor may order an electroencephalogram (EEG) for kids with seizures. An EEG uses special patches called electrodes placed on the scalp to record the natural electrical currents inside the brain. This recording can help the doctor see telltale patterns in the brains electrical activity that suggests a seizure disorder.

2) Doctor also tests the brain of CP child by scan the brain, such as a CT scan or MRI, may be used to detect a damaged area of the brain.

4) To diagnose CP, a doctor must do a complete examination, paying close attention to muscle tone and strength, reflexes, and coordination.

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Medical Management 1 ) Medication Types of medication given to Cerebral Palsy patient : Baclofen - It is a muscle relaxant - It is given by mouth/ injected directly into the spinal cord (intrathecal injection). - It help improve movement, speech, swallowing and alertness. Dantrolene muscle relaxant given in oral form. relieve severe muscle spasms and bring pain relief and increased movement. Sede- effect :cause serious liver damage and disease, including hepatitis and jaundice. Botox / Botulinum toxin - for muscles to relax. - inject botox directly into the spastic muscle. -Dosage is based on body weight - help reduce muscle spasticity

seizures. Valium (Diazepam) - muscle relaxant - given orally, intramuscularly or by intravenous injection - help relieve muscle spasms Dilantin (Phenytoin) - given by mouth, injection or intravenously. - help slow, control or stop seizures. Epival (Divalproex) - given by mouth. - help control or eliminate seizures. Klonopin, Rivotril (Clonazepam) - given by mouth in capsule form. - control minor seizures Tegretol (Carbamazepine) - given by mouth -help control or eliminate seizures and help relieve pain caused by neurological problems. Zarontin (Ethosuximide) - given in both capsule and liquid form. - help control or eliminate petit mal seizures. 2) Surgery

Flexeril (Cyclobenzadrine) - muscle relaxant - given orally Anti-seizure Medications Depakene (Valproic Acid) given in tablet or liquid form. help control and eliminate

-Orthopedic surgery is often recommended when spasticity and stiffness are severe enough to make walking and moving about difficult or painful.

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Chronic Cardiac Disorder

References Neuromuscular disorder : Occupational Therapy for children by Jane Case Smith Cerebral palsy : cerebral_palsy/article.htm tm#Dantrium Definition Heart is composed primarily with cardiac muscle tissue that contract and relax without stop until death. It must have a constant supply of oxygen and nutrients. The damage of cardiac muscle tissue will serve a myocardial infarction or heart disease. It is the chronic cardiac disorder. Conditions affecting children may be congenital or acquired. They can be childs primary condition or can be associated with other conditions like Down Syndrome. Types of chronic conditions: cardiac disorder

1. Congenital heart disease - Meaning it is present from birth. It is the problem with the structure or function of heart as a result of an abnormality that occurred during development of heart. All congenital heart defects originate before the end of the first trimester of gestatition, as heart develops early in embryonic life and is completely formed and functioning by 10 weeks. It is divided into two types : a) Cyanotic defects- blue discoloration caused by a relative lack of oxygen.Blood is shunted from right to left, and unoxygenated is returned to the body. As a result, arterial oxygen saturation levels fall below normal. b) Acyanotic defects- oxygen saturation is normal and the blood shunts from the left side of heart to the right side. Thus,
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oxygenated blood flows to the lung as well as body. Common conditions : aortic stenosis, atrial and ventricular septal defects, coarctation of aorta, patent ductus arteriosis, and endocardial cushion defect. Major causes of this problem: a) maternal infections b) drug and alcohol during pregnancy.

- In adolescence, children with this illness experience: Delayed physiological maturation Risk for psychosocial problems Particularly anxiety Depression Poor self esteem and body image Poor social interactions

Medical Management c) chromosomal abnormalities and genetic syndromes. (eg : Trisomy 21) Sign and Symptoms The symptoms of CHD become evident at birth, during infancy, or even later in life. Without interventions, some heart defect may cause death, especially in infancy. Symptoms of CHD : Respiratory difficulties Fatigue Lack of tolerance for prone position. Poor weight gain. Feeding difficulties. 1. To monitor patients response activity. 2. Educate patient about disease process, risk factors and lifestyle modifications. 3. Nitrate Drugs ( patch or spray)- use for treatment and prevention of angina. Also for treatment acute left ventricular failure. It is used to treat acute chest pain, and if symptoms change or unrelieved by nitrate seek medical attention. 4. Beta-Andrenoceptor AntagonistTreatment of hypertension, Coronary artery disease, Treatment for arrhythmia (Following myocardial infarction, SVT, or A.Fib), and Treatment for stable heart failure.. 5. Angiostensin Converting Enzyme Inhibitors- for treatment of hypertension. Prevention of cardiac remodeling following myocardial infarction 2. Acquired Heart Disease (AHD) This kind of heart disease is preventable if precautions are taken and a pediatric cardiologist informs the parent. This type of heart disease occurs in childhood 1-4 per 1000 children.
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Investigation -Impact to the childrens occupational performance...In childhood, commonly seen deficits are in areas of play and activities of daily living and also feeding. - The body function most frequently affected are the sensorimotor, especially motor and neuromusculoskeletal. - social participation in school or any activities may be interrupted because of bacterial illness, hospitalization and lack of stamina.

Two most popular types of AHD are : a) Kawasaki Disease b) Rheumatic Heart Disease (RHD) RHD is one of the most serious form of heart disease of childhood and adolescene. The disease involve damage of heart and membrane. Causes It is caused by Rheumatic Fever. Rheumatic Fever is an inflammatory disease which may develop after an infection with streptococcus bacteria, such as strep throat or scarlet fever. It can involve the heart, joints, skin, and brain. It primarily affects the children between ages 6 to 15 and occurs approximately 20 days after strep throat or scarlet fever. Symptoms of RHD Breathlessness Fatigue Palpitations Chest pain Fainting attacks.

Medical Management Get a bed rest. Administration of antibiotics Anti-inflamontary medications. May include surgery

The best way to prevent rheumatic heart disease is to seek immediate medical attention to a strep throat and not let it progress to rheumatic fever. * Strep throat is an infection of mucous membrane lining the pharynx. It is caused by bacteria. Sometimes the tonsils is infected.

And, symptoms of Rheumatic Fever:

Fever Joint pain, migratory arthritis -- involving primarily knees, elbows, ankles, and wrists Joint swelling Abdominal pain

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Common of Congenital Heart Disease

1. Cyanotic: Tetralogy of Fallot. It is the condition because of low oxygen level in blood. This leads to cyanosis (bluish purple colour to skin ) It also included four related defects of heart and major blood vessels : Ventricular Septal Defects ( hole between right and left ventrical ) Narrowing of the pulmonary outflow tract (valve and artery connect heart with lung) Overriding aorta ( artery that carry oxygen rich blood to the body ),that is shifted over the right ventricle and ventricular septal defect, instead of coming out from left ventricle. Right ventricle hypertrophy (thickened muscular wall of right ventricle)

Mother who is over 40 years old Poor nutrition during pregnancy Rubella or other viral illnesses during pregnancy


Clubbing of fingers (skin or bone enlargement around the fingernails) Cyanosis, which becomes more pronounced when the baby is upset Difficult feeding (poor feeding habits) Failure to gain weight Passing out Poor development Squatting cyanosis during episodes of

Treatment Surgery to repair tetralogy of Fallot is done when the infant is very young. Sometimes more than one surgery is needed. When more than one surgery is used, the first surgery is done to help increase blood flow to the lungs. Surgery to correct the problem may be done at a later time. Often only one corrective surgery is performed in the first few months of life. Corrective surgery is done to widen part of the narrowed pulmonary tract and close the ventricular septal defect. Expectations (prognosis) Most cases can be corrected with surgery. Babies who have surgery usually do well.

Tetralogy of Fallot is rare, but it is the most common form of cyanotic congenital heart disease. Patients with tetralogy of Fallot have a higher incidence of major non-heart congenital defects. At birth, infants may not show signs of cyanosis. However, later they may develop sudden episodes (called "Tet spells") of bluish skin from crying or feeding. Factors that increase the risk this condition during pregnancy :

Alcoholism in the mother Diabetes

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Ninety percent survive to adulthood and live active, healthy, and productive lives. Without surgery, death usually occurs by the time the person reaches age 20. Patients who have continued, severe leakiness of the pulmonary valve may need to have the valve replaced. Regular follow-up with a cardiologist to monitor for life-threatening arrhythmias (irregular heart rhythms) is recommended.

The baby may have no symptoms, and the hole can eventually close as the wall continues to grow after birth. If the hole is large, too much blood will be pumped to the lungs, leading to heart failure. The cause of VSD is not yet known. This defect often occurs along with other congenital heart defects. Symptoms Patients with ventricular Spetal defects may not have symptoms. However, if the hole is large, the baby often has symptoms related to heart failure. The most common symptoms include:

If a child with tetralogy of Fallot becomes blue, immediately place the child on his or her side or back and put the knees up to the chest. Calm the baby and seek medical attention immediately.

Shortness of breath Fast breathing Hard breathing Paleness Failure to gain weight Fast heart rate Sweating while feeding Frequent respiratory infections

2. Ventricular Spetal Defect (VSD) Ventricular Spetal defect describes one or more holes in the wall that separates the right and left ventricles of the heart. Ventricular Spetal defect is one of the most common congenital (present from birth) heart defects. It may occur by itself or with other congenital diseases.

Investigation Causes Before a baby is born, the right and left ventricles of its heart are not separate. As the fetus grows, a wall forms to separate these two ventricles. If the wall does not completely form, a hole remains. This hole is known as a ventricular Spetal defect, or a VSD. Listening with a stethoscope usually reveals a heart murmur (the sound of the blood crossing the hole). The loudness of the murmur is related to the size of the defect and amount of blood crossing the defect. Tests may include:

Chest x-ray -- looks to see if there is a large heart with fluid in the lungs

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ECG -- shows signs of an enlarged left ventricle Echocardiogram -- used to make a definite diagnosis Cardiac catheterization (rarely needed, unless there are concerns of high blood pressure in the lungs) MRI of the heart -- used to find out how much blood is getting to the lungs

Do not drinking alcohol and using the antiseizure medicine depakote and dilantin during pregnancy to prevent VSD. 3. Atrial Spetal Defect (ASD) ASD is the defect which the wall separate the upper heart chambers (atria) does not close completely. Causes In fatal circulation, the atria are open to allow blood to bypass to the lung. This opening usually close around the time baby is born. If ASD is persistent, blood continues to flow from left to right atria. This called a shunt. If too much blood flows to the right of heart, pressure in lungs will high. The problem will occur if the shunt is too large, increased pressure of the right side of heart would result in reversal of blood flow..This will result in shortness of breath. Individual with ASD may risk developing number of complications:

*Electrocardiogram (ECG)- records the electrical activity of heart. An ECG is used to measure : 1. any damage to heart 2. size and position of your heart chamber 3. how fast your heart beating 4. effects of drugs or devices used to control heart. Medical Management Baby with large VSD who have symptoms may need medicine to control it and suffer to close the hole. Medications : digitalis (digoxin) and diuretics. If symptoms continued, surgery with a Gore-Tex patch is needed. Some VSD can be closed with a special device during cardiac catherization (infrequently) *catherization - involves passing a thin flexible tube (catheter) into the right or left side of the heart, usually from the groin or the arm.


Atrial fibrillation (in adults) Heart failure Pulmonary overcirculation Pulmonary hypertension Stroke

Symptoms Small to moderate size may not produce any symptoms.

Difficulty breathing (dyspnea)


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Frequent respiratory infections in children Sensation of feeling the heart beat (palpitations) in adults Shortness of breath with activity

placed across the ASD and the defect is closed. *not all patients can have this procedure. -Prophylactic (preventive) antibiotics should be given prior to dental procedures to reduce the risk of developing infective endocarditis immediately after surgery for the ASD, but they are not required later on. 4. Patent Ductus Arteriousus Patent = open It is the condition which a blood vessel called ductus arteriousus fails to close normally at infant soon after birth. The condition leads to abnormal blood flow between aorta and pulmonary artery, blood vessels that carry blood from the heart. Causes Before birth, ductus arteriousus allows blood to bypass the babys lung by connecting pulmonary arteries ( supply blood to lung) with aorta (supply blood to body). After infant is born, and lungs fill with air, this blood vessels is no longer needed. - PDA affects girl more often than boy. - Infants with genetic disorder, such as Down syndrome, and whose mother has rubella during pregnancy are higher risk for PDA. - PDA is common in babies with congenital heart problems, such as hypoplastic left heart syndrome,

Investigation Doctor may hear abnormal heart sounds using stethoscope. If the shunt is large, increased blood flow across tricuspid valve may create an additional murmur when heart relaxes between beats. Test may done :

Cardiac catheterization Chest x-ray Coronary angiography (for patients over 35 years old) Doppler study of the heart ECG Echocardiography Heart MRI Transesophageal echocardiography (TEE)

Medical Management Surgical closer is recommended if the defect is large, heart is swollen, or symptoms occur. -The health care provider makes a tiny surgical cut in the groin, then inserts the catheters into a blood vessel and up into the heart. The closure device is then

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transposition of great pulmonary ste nosis. Symptoms



that causes pain, inflammation and fever. If these do not work, medical procedures may be needed. A transcatheter device closure is a minimally invasive procedure that uses a thin, hollow tube. The doctor passes a small metal coil or other blocking device through the catheter to the site of the PDA. This blocks blood flow through the vessel. Such endovascular coils have been used successfully as an alternative to surgery.

Small PDA may not causes any symptom

Bounding pulse Fast breathing Poor feeding habits Shortness of breath Sweating while feeding Tiring very easily Poor growth

Investigation Babies with PDA often have a characteristic heart murmur that can be heard using stethoscope. - In premature infants, heart murmur may not hear. But, the doctor may suspect the condition if infant has breathing or feeding problems soon after birth. - Changes may be seen on chest x-rays. The diagnosis is confirmed with an echocardiogram. Medical Management Medications such as indomethacin or a special form of ibuprofen are generally the first choice. *indomethacin and ibuprofen Drug that used to relieve moderate severe pain, tenderness, swelling and stiffness. It works by stopping bodys production of substance Surgery may be needed if the catheter procedure does not work or cannot be used. Surgery involves making a small cut between the ribs to repair the PDA.

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Traumatic Injuries
Introduction Traumatic is an injury (referred as a wound) to living tissue caused by an extrinsic agent. It is also known as a disordered psychic or behavioral state resulting from severe mental or emotional stress or physical injury. Injury means damage gained by a biological organism. In this context,

the biological organism such as Homo sapiens, human. Broken bones or fracture mostly occurs due to high physical force exerted on the bones such as jumping, collapsing hard materials with high impact and overlayed by heavy items. Types of fractures

Closed (simple) fractures are those in which the skin is intact

traumatic injuries can be concluded as body wound or shock produced by sudden physical injuries. Traumatic injuries may lead a patient to a difficult, abnormal and strange life due to the traumatic injuries. He or she might lose ability to do certain works .in order to return to normal life, specific treatments are needed and must be done carefully and consistently. The examples of traumatic injuries are fractures, congenital hip dislocation and head injuries. These abnormal conditions are going to be described with full details. Fractures Definition



fractures are

wounds that relate with the fracture, or where and fracture hematoma is may thus expose exposed, bone

to contamination. Open injuries may carry more risky infection

Complete fracture: a fracture in which bone fragments separate completely.

Incomplete fracture: a fracture in which the bone fragments are still partially joined.

Linear fracture: a fracture that is parallel to the long of bone axis.

Transverse fracture: a fracture that is at a right angle to the long of bone axis

Oblique fracture: a fracture that is diagonal to a long of bong axis.

A fracture is the separation of an object or material into two or more due to the action of stress. In the medical term, fracture is more often applied to the broken bones in

Spiral fracture: a fracture where at least part of bone has been twisted

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Comminuted fracture: a fracture in which the bone has broken into a number of pieces.


Signs Pain Swelling Bruising. Redness Deformity

Impacted fracture: a fracture caused when bone fragments are driven into each other.


Advanced age Certain genetic disorders Excessive tobacco consumption Female gender Lack of physical activity on a regular basis Lack of proper nutrition, especially calcium Osteoporosis (thinning weakening of the bones) Participation in sports Thyroid or endocrine disorders Vitamin deficiencies and or alcohol

Diagnosis Physical examination Most fractures cause swelling, deformity, and pain on attempted movement. In noncommunicative patients, refusal to mobilize extremely may be the only sign of a fracture or dislocation. Carrying out an assessment of the sensory, motor and circulatory status of the injured extremity is important before therapy is initiated. After application of a cast, splint, or traction or after manipulation of a fractured extremity. Reevaluation of neuromuscular of the limb should be carried out always. When injury or makes physical

Symptoms Bleeding Inability to move a joint Numbness and affected region Redness and warmth tingling in the

examination unreliable, x-rays are required to detect a fracture.

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Diagnostic tests X-rays: X-ray should include both anteroposterior and lateral views. On a single view, the characteristic displacement, discontinuity in contour, or altered alignment of a fracture may be hidden because of overlap of projection, oblique views can be helpful. Computed tomography: Computed tomography is a useful adjunct to plain x-rays in several circumstances

Using 99mtc-labeled



similar radioactive analogs. It detects focal injury of bone. It also scans whole body. Medical management Splinting Prevents movement in the joints and bones above and below of the fracture site. This is to prevent bone edges from moving and creating additional injuries at tissue,

muscles, vessels or nerves. Examples of splinting: Padded boards and rigid splints made of foam or cardboard are commonly used for upper- and lower-extremity fractures. Vacuum splints are essentially large air bladders that wrap around the affected extremity and are inflated to provide rigidity. Providing excellent tomography, soft tissue contrast and spartial and also resolution using Traction splints are used to immobilize fractures of the femur. These types of splints use tension that's created by pulling straps to place the bone in alignment.

visualization of occult fracture can be obtained. It determines the extent of articular surface disruption in joint fractures. Then, it may assess suspected pathologic fractures. Magnetic resonance imaging (MRI):

noninvasive technology.mri

ionizing helps

radiation evaluating

pathologic fractures. It can also view occult fractures. Bone scan:

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Head injuries
Head injury is trauma of the head. A head injury is any trauma that leads to injury of the scalp, skull, or brain. The injuries can be ranged from a minor bump on the skull to serious brain injury. Types of head injury Skull fracture Hemorrhage of the skin Traumatic subdural hematoma Traumatic extradural Traumatic subarachnoid hemorrhage Cerebral contusion Concussion Dementia pugilistica A severe injury may lead to a coma or death Shaken baby syndrome - a form of child abuse Causes Motor vehicle collisions Home Occupational accidents Falls Assaults Bicycle accidents Wilsons disease

Signs Coma Confusion Drowsiness Personality change Seizures Nausea Vomiting Headache Lucid interval

Symptoms loss of consciousness headache nausea vomiting dizziness memory loss behavioral changes blurred vision irritability seizures balance problems

Diagnosis Computerized tomography (ct) scan of the head allows the and brain to be for



bleeding and swelling in the brain. It can

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also evaluate bony injuries to the skull and look for bleeding in the sinuses of the face. Medical management The brain has been severely damaged by trauma, neurosurgical evaluation may be necessary. Treatments involve controlling elevated intracranial pressure. Paralytics Cerebrospinal fluid diversion Decompressive craniectomy Barbiturate coma Hypertonic saline Hypothermia.

References Http:// injury Http:// Http:// +fracture Http:// 135-overview

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Sensory Impairments
Definition: It refers to a defect in sensing and passing on the impulse. It leads in absence of sensation and neuronal-coordination. People that have sensory impairments: not able to smell, view, hear, feel and react to the stimuli given to the respective sensory organs. Types of sensory impairments: Visual impairment: is the vision loss resulting from disease, trauma or congenital condition. (example: blind) Hearing impairments: is refers to hard in hearing or deafness. The individuals are fully or partially unable to detect at least some frequency sound that can be heard by most people. Olfactory and gustatory impairments: Impairment of the sense of smell and taste are commonly associated with aging but can also occur in younger people due to a wide variety of causes. Anosmia inability to smell Dysosmia things smell different than they should Hyperosmia an abnormally acute sense of smell. Hyposmia decreased ability to smell Olfactory Reference Syndrome psychological disorder which causes the patient to imagine he has strong body odor

Parosmia things smell worse than they should Phantosmia "hallucinated smell," often unpleasant in nature Somatosensory Impairments: Insensitivity to stimuli such as touch, heat, cold, and pain are often an adjunct to a more general physical impairment involving neural pathways and is very commonly associated with paralysis Deaf blindness: 1. Congenital deaf blindness is when someone is born with combined sight and hearing difficulties. 2. Acquired deaf blindness is when they develop these problems later in life due to an accident, illness or as a result of ageing in later life.

Causes of Sensory Impairments Blindness: diabetes, cataracts, glaucoma, stroke, leprosy and vitamin A deficiency. Deafness: earwax blockage, aging, prolonged exposure to loud noises and ear infections. Olfactory and gustatory impairments: aging process, upper respiratory infection, oral and perioral infections. Deaf blindness: premature birth, fetal alcohol syndrome, rubella and trauma related.

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Clinical Presentation Signs and symptoms of hearing loss may include: Muffled quality of speech and other sounds Difficulty understanding words, especially against background noise or in a crowd of people Frequently asking others to speak more slowly, clearly and loudly Needing to turn up the volume of the television or radio Withdrawal from conversations Avoidance of some social settings Signs and impairments: symptoms of visual

is made by examination of all parts of the eye by an ophthalmologist. Diagnosis of deafness: General screening tests. Your doctor may ask you to cover one ear at a time to see how well you hear words spoken at various volumes and how you respond to other sounds. Tuning fork tests. Tuning forks are two-pronged, metal instruments that produce sounds when struck. Simple tests with tuning forks can help your doctor detect hearing loss. A tuning fork evaluation may also reveal whether hearing loss is caused by damage to the vibrating parts of your middle ear (including your eardrum), damage to sensors or nerves of your inner ear, or damage to both. Audiometer tests. During these more-thorough tests conducted by an audiologist, you wear earphones and hear sounds directed to one ear at a time. The audiologist presents a range of sounds of various tones and asks you to indicate each time you hear the sound. Each tone is repeated at faint levels to find out when you can barely hear.

Flashing lights Distorted vision Blurred vision Blind spot

Investigation Diagnosis of blindness: by visual acuity testing in each eye individually and by measuring the visual field or peripheral vision. People may have blindness in one (unilateral blindness) or both eyes (bilateral blindness). Historical information regarding the blindness can be helpful in diagnosing the cause of blindness. Poor vision that is sudden in onset differs in potential causes than blindness that is progressive or chronic. Temporary blindness differs in cause from permanent blindness. The cause of blindness

Medical Management Hearing impairments: Removing wax blockage. Earwax blockage is a common reversible cause of hearing loss. Your doctor may remove earwax by loosening it with oil and then flushing, scooping

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or suctioning the softened wax out. Hearing aids. If your hearing loss is due to damage to your inner ear, a hearing aid can be helpful by making sounds stronger and easier for you to hear. In some cases, you may be satisfied with an inexpensive, overthe-ear microphone device available at electronic stores. Cochlear implants. If you have severe hearing loss, a cochlear implant may be an option for you. Unlike a hearing aid that amplifies sound and directs it into your ear canal, a cochlear implant compensates for damaged or nonworking parts of your inner ear.

References es/symptoms/blindness/ ml earingloss/DS00172/DSECTION=causes earingloss/DS00172/DSECTION=sympto ms 1.htm ss/page3.htm#treatment

Vision Impairments: The treatment of blindness depends on the cause of blindness. In third-world nations where there are many people who have poor vision as a result of a refractive error, merely prescribing and giving glasses will alleviate the problem. Nutritional causes of blindness can be treating by dietary changes. People who are blind from cataracts. In these patients, cataracts surgery would, in most cases, restore their sight. Inflammatory and infectious causes of blindness can be treated with medication in the form of drops or pills.

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Down syndrome
Definition Down's syndrome (primarily in the United Kingdom), trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866 Down syndrome is a chromosomal condition characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (trisomy 21) or part (such as due to translocations). The effects and extent of the extra copy vary greatly among people, depending on genetic history, and pure chance. The incidence of Down syndrome is estimated at 1 per 733 births, although it is statistically more common with older parents (both mothers and fathers) due to increased mutagenic exposures upon some older parents' reproductive cells Often Down syndrome is associated with some impairment of cognitive ability and physical growth, and a particular set of facial characteristics. Individuals with Down syndrome tend to have a lower-than-average cognitive ability, often ranging from mild to moderate disabilities. Many children with Down syndrome who have received family support, enrichment therapies, and tutoring have been known to graduate from high school and college, and enjoy

employment in the work force. The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100. A small number have a severe to high degree of intellectual disability. Individuals with Down syndrome may have some or all of the following physical characteristics: microgenia (an abnormally small chin), an unusually round face, macroglossia (protruding or oversized tongue), an almond shape to the eyes caused by an epicanthic fold of the eyelid, upslanting palpebral fissures (the separation between the upper and lower eyelids), shorter limbs, a single transverse palmar crease (a single instead of a double crease across one or both palms), poor muscle tone, and a larger than normal space between the big and second toes. Health concerns for individuals with Down syndrome include a higher risk for congenital heart defects, gastroesophageal reflux disease, recurrent ear infections that may lead to hearing loss, obstructive sleep apnea, and thyroid dysfunctions.

Causes 1. Genetic passing through metabolic diseases: The disease is passing through from the parent to the baby. Genetic and metabolic disorder is difficult to diagnosis in the new born. The baby will look healthy and will not have symptom when they are born, because the disease will not attack until the time when children start contact their surrounding environment.

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2. Immune disorder : The immune function becomes react to certain situations and starts to attack the brain tissues, it is important to abnormal movements of body, disturb in emotion and obsessive(thinking too much) disorder symptoms. 3. Infectious disease : Infectious diseases is defined as a type of disease that can transmit from the carrier to other person through one or more of type of ways, include physical contact, share food, body fluid, and so on. 4. Nutritional deficiency: Women who have folic acid and iodine deficiency during their pregnancy can cause risk to their babies in contact neurodevelopmental disorders, leading to excessive mental retardation. Taking of both can cause brain damage as it result of toxins carry forward in the new born central nervous system. 5. Physical trauma : Most cases of physical trauma is caused by congenital injury, it happen because of injured as result of lack of oxygen to the brain or damage to the brain tissues, leading to cerebral palsy that cause lasting physical disability in child development. 6. Environment toxic: 5000 environment toxins have made of human, include heavy metals such as lead and mercury. If the child is unlucky to have high levels of heavy metal are gathered in their brain to detoxification dysfunction of body

organs, it can caused brain damage, known to impairment of emotional and physical development. 7. Medication: Some vaccines are use to protect the child at the beginning of the disease. One of the vaccine, thimerosal contains 50 time more toxins than the free mercury, if the baby not remove them, it will cause mercury in the brain, leading to brain damage and consider the child development. Signs and symptoms Down syndrome are characterized by the neotenization of the brain and body to the fetal state. Down syndrome is characterized by decelerated maturation (neoteny), Incomplete morphogenesis (vestigia) and atavisms.

Down syndrome can result from several different genetic mechanisms. This results in a wide variability in individual due to complex gene and environment interactions. Prior to birth, it is not possible to predict the symptoms that an individual with Down syndrome will develop. Physical characteristics Individuals with Down syndrome may have some or all of the following physical characteristics: Microgenia (abnormally small chin), oblique eye fissures with epicanthic skin folds on the inner corner of the eyes (formerly known as a mongoloid fold), Muscle hypotonia (poor muscle tone), a flat nasal bridge, a single

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palmar fold, a protruding tongue (due to small oral cavity, and an enlarged tongue near the tonsils) Macroglossia "face is flat and broad" a short neck, white spots on the iris known as Brushfield spots, excessive joint laxity including atlanto-axial instability, Excessive space between large toe and second toe, a single flexion furrow of the fifth finger, a higher number of ulnar loop dermatoglyphs and short fingers. Growth parameters such as height, weight, and head circumference are smaller in children with DS than with typical individuals of the same age. Adults with DS tend to have short stature and bowed legsthe average height for men is 5 feet 1 inch (154 cm) and for women is 4 feet 9 inches (144 cm). Individuals with DS are also at increased risk for obesity as they age and tend to be "round in shape".

Smaller genitalia


Eyelid crease


Shortened 70% extremitie s 69% Oval palate 60% Low-set and rounded ear
Mental characteristics

disease Single 45% transverse palmar crease Macroglos 43% sia (larger tongue) Epicanthal 42% fold Strabismu s Brushfield spots (iris) 40% 35%

Charact eristics
Mental retardatio n Stunted growth Atypical fingerprin ts Separatio n of the abdomina l muscles Flexible ligaments Hypotoni a Brachyce phaly

Perce ntage

Charact eristics
Small teeth

Perce ntage

100% 90%

Flattened 60% nose Clinodacty 52% ly Umbilical hernia 51%


80% 80% 75%

Short neck


Shortened 50% hands Congenital 45% heart

Most individuals with Down syndrome have intellectual disability in the mild (IQ 5070) to moderate (IQ 3550) range, with individuals having Mosaic Down syndrome typically 1030 points higher Language skills show a difference between understanding speech and expressing speech, and commonly individuals with Down syndrome have a speech delay. Fine motor skills are delayed and often lag behind gross motor skills and can interfere with cognitive development. Effects of the condition on the development of gross motor skills are quite variable. Some children will begin walking at around 2 years of age, while others will not walk until age 4. Physical therapy, and/or participation in a program of adapted physical education (APE), may promote enhanced development of gross motor skills in Down syndrome children

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Pregnant women can be screened for various complications during pregnancy. Many standard prenatal screens can discover Down syndrome. Genetic counseling along with genetic testing, such as amniocentesis, chorionic villus sampling (CVS), or percutaneous umbilical cord blood sampling (PUBS) are usually offered to families who may have an increased chance of having a child with Down syndrome, or where normal prenatal exams indicate possible problems. Amniocentesis and CVS are considered invasive procedures, in that they involve inserting instruments into the uterus, and therefore carry a small risk of causing fetal injury or miscarriage. The risks of miscarriage for CVS and amniocentesis are often quoted as 1% and 0.5% respectively. There are several common non-invasive screens that can indicate a fetus with Down syndrome. These are normally performed in the late first trimester or early second trimester. Due to the nature of screens, each has a significant chance of a false positive, suggesting a fetus with Down syndrome when, in fact, the fetus does not have this genetic condition. Screen positives must be verified before a Down syndrome diagnosis is made.

variable and may affect the function of any organ system or bodily process. Some problems are present at birth, such as certain heart malformations. Others become apparent over time, such as epilepsy.

Congenital heart disease

The incidence of congenital heart disease in children with Down syndrome is up to 50%. An atrioventricular septal defect also known as endocardial cushion defect is the most common form with up to 40% of patients affected. This is closely followed by ventricular septal defect that affects approximately 30% of patients.

Hematologic malignancies such as leukemia are more common in children with DS. In particular, the risk for acute lymphoblastic leukemia is at least 10 times more common in DS and for the megakaryoblastic form of acute myelogenous leukemia is at least 50 times more common in DS. Transient leukemia is a form of leukemia that is rare in individuals without DS but affects up to 20 percent of newborns with DS. This form of leukemia is typically benign and resolves on its own over several months, though it can lead to other serious illnesses. In contrast to hematologic malignancies, solid tumor malignancies are less common in DS, possibly due to increased numbers of tumor suppressor genes contained in the extra genetic material.
Decreased incidence of many cancer types

Health problems
Individuals with Down syndrome have a higher risk for many conditions. The medical consequences of the extra genetic material in Down syndrome are highly

Health benefits of Down syndrome include greatly reduced incidence of many common malignancies except leukemia and testicular cancer

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Thyroid disorders
Individuals with DS are at increased risk for dysfunction of the thyroid gland, an organ that helps control metabolism. Low thyroid (hypothyroidism) is most common, occurring in almost a third of those with DS. This can be due to absence of the thyroid at birth (congenital hypothyroidism) or due to attack on the thyroid by the immune system

Children and adults with DS are at increased risk for developing epilepsy. The risk for Alzheimer's disease is increased in individuals with DS, with 1025% of individuals with DS showing signs of AD before age 50, up to 50% with clinical symptoms in the sixth decade, and up to 75% in the 7th decade. This sharp increase in the incidence and prevalence of dementia may be one of the factors driving the decreased life expectancy of persons with Down Syndrome.

Down syndrome increases the risk of Hirschsprung's disease, in which the nerve cells that control the function of parts of the colon are not present.[ This results in severe constipation. Other congenital anomalies occurring more frequently in DS include duodenal atresia, annular pancreas, and imperforate anus. Gastroesophageal reflux disease and celiac disease are also more common among people with DS.

Ophthalmology otolaryngology


There is infertility among both males and females with Down syndrome; males are usually unable to father children, while females demonstrate significantly lower rates of conception relative to unaffected individuals.[citation needed] Women with DS are less fertile and often have difficulties with miscarriage, premature birth, and difficult labor. Without preimplantation genetic diagnosis, approximately half of the offspring of someone with Down syndrome also have the syndrome themselves. Men with DS are almost uniformly infertile, exhibiting defects in spermatogenesis. There have been only three recorded instances of males with Down syndrome fathering children.

Eye disorders are more common in people with DS. Almost half have strabismus, in which the two eyes do not move in tandem. Refractive errors requiring glasses or contacts are also common. Cataracts (opacity of the lens), keratoconus (thin, cone-shaped corneas), and glaucoma (increased eye pressures) are also more common in DS Brushfield spots (small white or grayish/brown spots on the periphery of the iris) may be present.

Hearing loss
In the past, prior to current treatment, there was a 3878% incidence of hearing loss in children with Down syndrome. Fortunately, with aggressive, meticulous and compulsive diagnosis and treatment of chronic ear disease (e.g. otitis media, also known as Glue-ear) in children with Down syndrome, approximately 98% of the children have normal hearing levels. However, more recent studies show that hearing impairment and otological problems are still found in 38-90% of children with

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Down syndrome compared to 2.5% for normal children. The elevated occurrence of hearing loss for individuals with Down is not surprising. Every component in the auditory system is potentially adversely affected by Down syndrome[. Problems may include:

access to personal recreational activities. Given this background it is always important to rule out hearing loss as a contributing factor in social and mental deterioration. Other complications Instability of the atlanto-axial joint occurs in approximately 15% of people with DS, probably due to ligamental laxity. It may lead to the neurologic symptoms of spinal cord compression.[83] Periodic screening, with cervical x-rays, is recommended to identify this condition. Other serious illnesses include immune deficiencies. Prognosis

Stenosis of the ear canal Malformation of the malleus, incus, and stapes Shortened or narrow cochlea Neural transmission rates that are accelerated (at the level or brainstem) or delayed (at the level of the cortex) Weak immune system leading to increased middle ear pathology

Otitis media with effusion is the most common cause of hearing loss in Down children, the infections start at birth and continue throughout the childrens lives. The ear infections are mainly associated with Eustachian tube dysfunction due to alterations in the skull base. However, excessive accumulation of wax can also cause obstruction of the outer ear canal as it is often narrowed in children with Down syndrome. Middle ear problems account for 83% of hearing loss in children with Down syndrome. The degree of hearing loss varies but even a mild degree can have major consequences on speech perception, language acquisition, development and academic achievement if not detected in time and corrected. Early intervention to treat the hearing loss and adapted education is useful to facilitate the development of children with Down syndrome, especially during the preschool period. For adults, social independence depends largely on the ability to complete tasks without assistance, the willingness to separate emotionally from parents and

The above factors can contribute to a shorter life expectancy for people with Down syndrome. One study, carried out in the United States in 2002, showed an average lifespan of 49 years, with considerable variations between different ethnic and socio-economic groups. However, in recent decades, the life expectancy among persons with Down syndrome has increased significantly up from 25 years in 1980. The causes of death have also changed, with chronic neurodegenerative diseases becoming more common as the population ages. Most people with Down Syndrome who live into their 40s and 50s begin to suffer from an Alzheimer's disease-like dementia. Management Treatment of individuals with Down syndrome depends on the particular manifestations of the condition. For instance, individuals with congenital heart disease may need to undergo major corrective surgery soon after birth. Other

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individuals may have relatively minor health problems requiring no therapy.

Plastic surgery
Plastic surgery has sometimes been advocated and performed on children with Down syndrome, based on the assumption that surgery can reduce the facial features associated with Down syndrome, therefore decreasing social stigma, and leading to a better quality of life. Plastic surgery on children with Down syndrome is uncommon, and continues to be controversial. Researchers have found that for facial reconstruction, "...although most patients reported improvements in their child's speech and appearance, independent raters could not readily discern improvement.... For partial glossectomy (tongue reduction), one researcher found that 1 out of 3 patients "achieved oral competence," with 2 out of 3 showing speech improvement.

Examination at birth
Initial examination of newborns with DS should pay particular attention to certain physical signs that are more commonly found in DS. Evaluation of the red reflex can help identify congenital cataracts. Movement of the eyes should be observed to identify strabismus. Constipation should raise concerns for Hirschsprung's disease and feeding problems should prompt intense education to ensure adequate input and nutrition. At birth, an ultrasound of the heart (echocardiogram) should be done immediately in order to identify congenital heart disease (this should be carried out by someone with experience in pediatric cardiology). A complete blood count should be done in order to identify pre-existing leukemia. A hearing test using brainstem auditory evoked responses (BAERS) testing should be performed and any hearing deficits further characterized. The thyroid function should also be tested. Early Childhood Intervention should be involved from birth to help coordinate and plan effective strategies for learning and development. The American Academy of Pediatrics, among other health organizations, has issued a series of recommendations for screening individuals with Down Syndrome for particular diseases. These guidelines enable health care providers to identify and prevent important aspects of DS. All other typical newborn, childhood, and adult screening and vaccination programs should also be performed.

Cognitive development
The identification of the best methods of teaching each particular child ideally begins soon after birth through early intervention programs. Cognitive development in children with Down syndrome is quite variable. It is not currently possible at birth to predict the capabilities of any individual reliably, nor are the number or appearance of physical features predictive of future ability. Since children with Down syndrome have a wide range of abilities, success at school can vary greatly, which underlines the importance of evaluating children individually. The cognitive problems that are found among children with Down syndrome can also be found among other children. Therefore, parents can use general programs that are

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offered through the schools or other means. Individuals with Down syndrome differ considerably in their language and communication skills. It is routine to screen for middle ear problems and hearing loss; low gain hearing aids or other amplification devices can be useful for language learning. Early communication intervention fosters linguistic skills. Language assessments can help profile strengths and weaknesses; for example, it is common for receptive language skills to exceed expressive skills. Individualized speech therapy can target specific speech errors, increase speech intelligibility, and in some cases encourage advanced language and literacy. Augmentative and alternative communication (AAC) methods, such as pointing, body language, objects, or graphics are often used to aid communication. Relatively little research has focused on the effectiveness of communications intervention strategies.[94] In education, mainstreaming of children with Down syndrome is becoming less controversial in many countries. For example, there is a presumption of mainstream in many parts of the UK. Mainstreaming is the process whereby students of differing abilities are placed in classes with their chronological peers. Children with Down syndrome may not age emotionally/socially and intellectually at the same rates as children without Down syndrome, so over time the intellectual and emotional gap between children with and without Down syndrome may widen. Complex thinking as required

in sciences but also in history, the arts, and other subjects can often be beyond the abilities of some, or achieved much later than in other children. Therefore, children with Down syndrome may benefit from mainstreaming provided that some adjustments are made to the curriculum.

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Definition Ataxia is defined as delayed initiation of movement responses, errors in range and force of movement, and errors in the rate and regularity of movement. The agonist and antagonist muscle group is in poor coordination. In jerky and poorly controlled movements is result from this. When a patient with ataxia reaches for an object, it is apparent that the shortest distance between the patient and object is not a straight line. The patient with gait ataxia has a staggering, wide-based gait with reduced or no arm swing. The patient may have a tendency to fall and their step length may be uneven. The patient with cerebellar dysfunction isolated to only one cerebeller hemisphere will have a tendency to fall on the side of the lesion or dysfunction due to the ipsilateral influence of the cerebellum on the lower motor neurons. Ataxia will result in poor postural stability. Ataxia can occur in the entire body, in the trunk, or in the UEs and LEs. Ataxia in the UEs causes dysfunction in activities in which the patient attemps to perform a combination of gross and find motor movements, such as bringing a glass of water to the mouth. The UEs oscillates back and forth, causing the water to spill. Ataxia in the LEs results in an impaired ability to ambulate while maintaining balance.


Cerebellar Ataxia

Vestibular ataxia

Sensory ataxia

(1) Cerebellar Ataxia The term cerebellar ataxia is used to indicate ataxia that is due to dysfunction of the cerebellum. Variety of elementary neurological deficits is cause by this, such as antagonist hypotonia, asynergy, dysmetria, dyschronometria, and dysdiadochokinesia. These abnormalities manifest themselves depends on which cerebellar structures have been damaged, and whether the lesion is bilateral or unilateral impairs the balance and the control of eye movements is effect from dysfunction of the vestibulocerebellum . This presents itself with postural instability, in which the patient tends to separate his/her feet upon standing, in order to gain a wider base and to avoid titubation (bodily oscillations tending to be forwardbackward ones). The instability is therefore worsened when standing with the feet together, regardless of

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whether the eyes are open or closed. The Romberg's test is negative. It denotes the individual's inability to carry out the test, because the individual feels unstable even with open eyes. Next, dysfunction of the spinocerebellum presents itself with a wide-based "drunken sailor" gait (called truncal ataxia), characterised by uncertain starts and stops, lateral deviations, and unequal steps. Then, disturbances in carrying out voluntary, planned movements by the extremities (called appendicular ataxia) is effect from dysfunction of the cerebrocerebellum. These include, intention tremor (coarse trembling, accentuated over the execution of voluntary movements, possibly involving the head and eyes as well as the limbs and torso); then, peculiar writing abnormalities (large, unequal letters, irregular underlining); a peculiar pattern of dysarthria (slurred speech, sometimes characterised by explosive variations in voice intensity despite a regular rhythm). There also inability to perform rapidly alternating movements, known as dysdiadochokinesia. This could involve rapidly switching from pronation to supination of the forearm. Movements become more irregular with increases of speed.

Furthermore, cannot judge distances or ranges of movement. This is known as dysmetria. Its often seen as undershooting, hypometria, or overshooting, hypermetria, the required distance or range to reach a target. This is sometimes seen when a patient is asked to reach out and touch someone's finger or touch their own nose. Lastly, the rebound phenomenon, also known as the loss of the check reflex is also sometimes seen in patients with cerebellar ataxia. When a patient is flexing their elbow isometrically against a resistance. When the resistance is suddenly removed without warning, the patient's arm may swing up and even strike themselves. With an intact check reflex, the patient will check and activate the opposing triceps to slow and stop the movement. This is some example of cerebellar ataxia with dysfunction of the cerebrocerebellum.

(2) Sensory Ataxia The term sensory ataxia is employed to indicate ataxia due to loss of proprioception, the loss of sensitivity to the positions of joint and body parts. Dysfunction of the dorsal columns of the spinal cord is generally caused, because they carry proprioceptive information up to the brain. In some cases, the cause of sensory ataxia may instead by

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dysfunction of the various parts of the brain which receive positional information, including the cerebellum, thalamus, and parietal lobes. Sensory ataxia presents itself with an unsteady "stomping" gait with heavy heel strikes, as well as a postural instability that is usually worsened when the lack of proprioceptive input cannot be compensated for by visual input, such as in poorly lit environments. Physicians can find evidence of sensory ataxia during physical examination by having the patient stand with his/her feet together and eyes shut. This will cause the instability to worsen markedly, producing wide oscillations and possibly a fall in affected patients. This is called a positive Romberg's test. Worsening of the fingerpointing test with the eyes closed is another feature of sensory ataxia. Also, when the patient is standing with arms and hands extended toward the physician, if the eyes are closed, the patient's finger will tend to "fall down" and then be restored to the horizontal extended position by sudden muscular contractions.

prominent vertigo, nausea and vo miting. In slow-onset, chronic bilateral cases of vestibular dysfunction, these characteristic manifestations may be absent, and dysequilibrium may be the sole presentation.

Causes The three types of ataxia have overlapping causes, and therefore can either coexist or occur in isolation. Its focal lesions, exogenous substances, radiation poisoning, vitamin B12 deficiency, causes of insolated sensory ataxia, non-hereditary cerebellar degeneration, heredibary ataxias, arnold-Chiari malformation and Wilsons Disease. (1)Focal Lesions Any type of focal lesion of the central nervous system (such as stroke, brain tumour, multiple sclerosis) will cause the type of ataxia corresponding to the site of the lesion: cerebellar if in the cerebellum, sensory if in the dorsal spinal cord (and rarely in the thalamus or parietal lobe), and vestibular if in the vestibular system (including the vestibular areas of the cerebral cortex).

(3) Vestibular Ataxia The term vestibular ataxia is employed to indicate ataxia due to dysfunction of the vestibular system, which in acute and unilateral cases is associated with (2)Exogenous Substances Exogenous substances that cause ataxia mainly do so because they have a depressant effect on central nervous system function.
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The most common example is ethanol, which is capable of causing reversible cerebellar and vestibular ataxia. Other examples include various prescription drugs (e.g. most antiepileptic drugs have cerebellar ataxia as a possible adverse effect), Lithium level over 1.5mEq/L, cannabis ingestion and various other recreational drugs (e.g. ketamine, PCP or dextromet horphan, all of which are NMDA receptor antagonists that produce a dissociative state at high doses). Exposure to high levels of methylmercury, through consumption of fish with high mercury concentrations, is also a known cause of ataxia and other neurological disorders.

sensory ataxia (e.g. a limb only) depending on the extent of the neuropathic involvement. When they involve the dorsal columns, spinal disorders of various types may cause sensory ataxia from the lesioned level below.

(6)Non-Hereditary Degeneration


Cerebellar degeneration include chronic ethanol abuse, paraneoplastic cerebellar degeneration, high altitude cerebral oedema, coeliac disease, normal pressure hydrocephalusand cerebellitis is caused of non-hereditary.

(7)Hereditary Ataxias (3)Radiation Poisoning Ataxia can be induced as a result of severe acute radiation poisoning with an absorbed dose of more than 30 Grays. Ataxia may depend on hereditary disorders consisting of degeneration of the cerebellum and/or of the spine; most cases feature both to some extent, and therefore present with overlapping cerebellar and sensory ataxia, even though one is often more evident than the other. Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, episodic ataxia, anddentatorubropallidoluysian atrophy, as well as autosomal recessive disorders such as Friedreich's ataxia (sensory and
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(4)Vitamin B12 Deficiency Vitamin B12 deficiency may cause, among several neurological abnormalities, overlapping cerebellar and sensory ataxia.

(5)Causes of isolated Sensory Ataxia Peripheral neuropathies may cause generalised or localised

cerebellar, with the former predominating) and Niemann Pick disease, ataxiatelangiectasia (sensory and cerebellar, with the latter predominating), and abetalipoproteinaemia. An example of X-linked ataxic condition is the rare fragile Xassociated tremor/ataxia syndrome.

Clinical Presentation Symptoms vary depending on the type of ataxia but include early problems with unsteadiness and clumsiness, which in early onset types usually start between the ages of 4 and 16. In late-onset types of ataxia - as the result of alcoholism, for example symptoms usually begin after the age of 20. Ataxia can develop over time or come on suddenly, depending on the cause. Symptoms may remain mild or worsen as the ataxia progresses.Ataxia, may cause:

(8)Arnold-Chiari Malformation Arnold-Chiari malformation is a malformation of the brain. It consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causinghydrocephalus as a result of obstruction of cerebrospinal fluid outflow.

Coordination is poor A tendency to stumble and unsteady walk Difficulty with fine-motor tasks, such as eating, writing or buttoning a shirt Speech, vision and hearing may be affected Involuntary back-and-forth eye movements (nystagmus) Difficulty swallowing If you aren't aware of having a condition that causes ataxia, such as multiple sclerosis, see your doctor if you:

(9)Wilsons Disease Wilson's Disease is an autosomalrecessive gene disorder whereby an alteration of the ATP7B gene results in an inability to properly excrete copper from the body. Copper accumulates in the nervous system and liver and can cause ataxia as well as other neurological and organ impairments.

Lose balance Muscle coordination in a hand, arm or leg is lost Have difficulty in walking Speech is slur Have difficulty swallowing

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Investigation Diagnosing ataxia can take a while because many other conditions can cause similar symptoms. Blood tests, MRI scans and genetic tests may be performed to help confirm diagnosis when ataxia is suspected Families affected by ataxia may be offered blood tests to see if individuals are carriers. Antenatal screening is also available for some types of ataxia. The following questions should be ask: 1. Is there deafness? vertigo, tinnitus, or

consider peripheral neuropathy or tabes dorsalis. 4. Is the ataxia worse in the dark? This is a sign that the dorsal column or peripheral nerve is affected, and one should look for peripheral neuropathy, pernicious anemia, multiple sclerosis, and Friedreich's ataxia. One should also look for tabes dorsalis. 5. Is there a secondary gain? Hysterical patients and patients who are malingering will often show a completely normal neurologic examination, but be unable to walk or stand without staggering. The author has been particularly impressed with patients applying for long-term disability who stagger a great deal without support, but as soon as support in the form of a cane is given, their ataxia completely clears up.

Any one of these three signs and symptoms should suggest Mnire's disease or other labyrinthine disease as well as eighth nerve pathology. 2. Are there headaches, nystagmus, or papilledema? These signs should suggest a cerebellar tumor or acoustic neuroma. 3. Are there other neurologic signs? If there are long tract signs such as hyperactive reflexes and loss of vibratory or position sense, one should consider multiple sclerosis, pernicious anemia, or basilar artery insufficiency. If there are glove and stocking hypoesthesia and hypoactive reflexes, one should

Diagnostic The wise clinician should consider a neurologic referral at the outset. An audiogram and caloric testing should be done if there is vertigo, tinnitus, or deafness. Then, a CT scan or MRI of the brain should be done if these suggest eighth nerve damage. Headaches, sustained nystagmus, or papilledema are other indications for a CT scan or MRI. If multiple sclerosis is suspected, MRI of the brain is very useful,

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as well as spinal fluid for gamma globulin and myelin basic protein. Perhaps VEP, brain stem evoked potential (BSEP), or SSEP studies should be done. Magnetic resonance angiography will allow assessment of the vertebral-basilar arteries if vascular disease is suspected. If this is not available, four-vessel cerebral angiography may be utilized. Patients with hypoactive reflexes and glove and stocking hypoesthesia and hypalgesia will need a neuropathy workup. Referral to a psychologist for psychometric testing should be done when there is ataxia in the presence of a normal neurologic examination. Medical Management The medical management of ataxia and its effectiveness depend on the underlying cause may limit or reduce the effects of ataxia, but it is unlikely to eliminate them entirely. Recovery tends to be better in individuals with a single focal injury (such as stroke or a benign tumour), compared to those who have a neurological degenerative condition. A review of the management of degenerative ataxia was published in 2009. The movement disorders associated with ataxia can be managed by pharmacological medical managements and through physical therapy and occupational therapy to reduce disability. Some drug medical managements that have been used to control ataxia

include: 5-hydroxytryptophan (5HTP), idebenone, amantadine, physostigmine, L-carnitine or derivatives, trimethoprim sulfamethoxazole, vigabatrin, phosphatidylcholine, acetazolamide, 4-aminopyridine, buspirone, and a combined coenzyme Q10 and vitamin E antioxidant therapy. For retraining specific functional motor patterns, physical therapy requires a focus on adapting activity and facilitating motor learning. The large components of therapy is gait, coordination, and balance training. Training will likely need to be intense and focused, as indicated by one study performed with stroke patients experiencing limb ataxia who underwent intensive upper limb training. Their therapy consisted of constraint-induced movement therapy which resulted in improvements of their arm function. Medical management will likely include strategies to manage difficulties with everyday activities such as walking. Gait aids (such as a cane or walker) can be provided to decrease the risk of falls associated with a balance impairment or poor coordination. Severe ataxia may eventually call for the use of a wheelchair. A possible coexisting motor deficit need to be addressed in

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addition to those induced by ataxia, in order to obtain better results; for example muscle weakness and decreased endurance which would lead to increasing fatigue and poorer movement patterns.

Tics Disoder
Definition According to Philip Barker (1971), tics, sometime known as habit spasm, are repetitive, sudden movement of muscles or groups of muscles, not under voluntary control and serving no obvious purpose. They more often affect the muscles of the face, and eye-blinking tics are common. Various facial contortions may occur and muscle groups in other parts of the body may be affected. The head and neck may be suddenly and briefly moved in one direction or contorted. They may be similar movement of trunk and limbs. The same movements tend to occur repeatedly, in severe cases scores or hundreds of times daily. Tics, especially when they involve large movements of trunk or limbs, can be seriously handicapping. Some with Tourettes syndrome will describe a need to complete a tic in a certain way or a certain number of times in order to relieve the urge or decrease the sensation. Tics are often worse with excitement or anxiety and better during calm, focused activities. Certain physical experiences can trigger or worsen tics, for example tight collars may trigger neck tics, or hearing another person sniff or throat-clear may trigger similar sounds. Tics do not go away during sleep but are often significantly diminished.

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Types Tics are divided into two that are by complexity and by number of tics and duration. Tics by complexity are also divided into two that are simple tic and complex tic. Simple tic are sudden, short, repetitive movements that involve a limited number of muscle groups. Simple motor tics include eye blinking, vision irregularity, facial grimace, shoulder shrugging and head or shoulder jerk. Simple vocal tics are repetitive throat-clearing and sniffing or grunt sounds. Complex tic are different, coordinated pattern of movement involve several muscle groups. Complex motor tics include facial grimace combined with head twist and shoulder shrug, appear purposeful, sniffing or touching objects, hopping, jumping, bending or twisting. Complex vocal tics include words or phrases. Tics by number of tics and duration are divided into transient tics condition and chronic tics condition. Transient tics condition presents less than one year and do not happen again. The child is benign and does not requires treatment. Chronic tics condition present more than a year. There is a history of a number of tics that have been present. Chronic motor tic is the individual has one or several motor tics (no vocal tics) on and off for more than one year. Chronic vocal tics has been one or

more vocal tics (no motor tics) on and off for more than a year. Causes Experts do not know the exact cause of tics, but some research points to changes in the brain and problems with how nerve cells communicate. Research is ongoing and it is believed that an abnormal metabolism of the neurotransmitters dopamine and serotonin , the chemicals in the brain that carry nerve signals from cell to cell are involved with the disorder. It is genetically transmitted with parents having a 50% chance of passing the gene on to their children. Girls with the gene have a 70% chance of displaying symptoms while boys with the gene have a 99% chance of displaying symptoms. Clinical Presentation Both multiple motor and one or more vocal tics have been present at some time during the illness. The tics occur many times a day, nearly every day, or occasionally throughout a period of more than 1 year The anatomic location, number, frequency, complexity, type, or severity of tics changes over time Tics have their onset (vigorous beginning) before age 21 years People with Tourettes Syndrome are more likely to have any combination of the following problems:

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Attention-Deficit/Hyperactivity Disorder (ADHD) Difficulties with Impulse Control Obsessive-Compulsive Disorder (OCD)-obsession thought (describe unwanted disturbing or often nonsensical worries) Various Learning Disabilities (such as dyslexia) Various Sleep Disorders

Can the patient control the tics with conscious effort? Does the child have any stress in his life such as difficult school work? Next, carefully observe the tic. Is it a purposeful or involuntary movement? Note whether its localized or generalized, and describe it in detail.

Investigation A screening neurologic examination should be conducted that includes assessment of coordination, motor overflow, strength, reflexes, tone, balance, and untoward motor movement. A mental status examination should focus on mood, affect, language, intelligence, cognitive processes, thought content, attention, orientation, insight, and judgment. Tics do not warrant to routine serum screening, neuroimaging, or electrical studies unless secondary tics or differential concerns are raised by history or examination. To be diagnosed with Tourettes syndrome, observe that a person must have several different types of tics that are specifically, multiple motor tics and at least one vocal tic. Begin by asking the parents: How long the child has had the tic? How often he experiences it? Can they identify any precipitating or pain factors?

Medical Management In managing these children, a supportive attitude from the parent and the community are important to relief of any stress the child may be experiencing. Any apparent causes of anxiety should be removed and co-existing psychiatric problems should receive the appropriate treatment. Although many treatments have been suggested for tics disorders including individual psychotherapy and behavior therapy, treatment with certain drugs seems to be most effective. The mainstays of drug therapy have been the antipsychotic drugs haloperidol and pimozide. Clonidine, a drug primarily used to control hyperextension, is sometimes effective in controlling tics, though usually less so than haloperidol and pimozide. These drugs are only use to manage tics and cannot cure tics. Occupational therapy referral is helpful if the child has prominent
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handwriting deficits, sensory defensiveness, or late gross motor development. Conclusion A comprehensive physical examination should be part of the evaluation of tics, especially in young children with communication difficulties. More controlled, independent studies are needed to establish the treatment of children with ADHD and comorbid tic disorder or Tournettes Syndrome. A review of the literature on tic classification and the available instruments to rate tic severity suggests the need for developing a better classification profile and more adequate rating instruments. Children with tic disorders present clinical challenges that require a combined approach of patient and family education, behavioral therapies, and medical intervention. Successful outcomes depend on attention to associate and set realistic goals for the family and clinician. These disorders obviously bridge neurology and the behavioral sciences, discouragement the artificial split of brain and mind while encouraging an integrated conceptualization and treatment approach. References: 1) Keith Cheng and Kathleen M. Myers, Child and Adolescent Psychiatry The Essential : 9 (151168)

2) Michael Rutter and Eric Taylor, Child and Adolescent Psychiatry Fourth Edition: 36 (593-606) 3) Philip Borker, Basic Child Psychiatry Sixth Edition : 15 (187190) 4) e/1182258-clinical

5) 6) ourette/detail_tourette.htm 7) rticledetail.aspx?articleid=1725 8) s/book-diseases8c.htm?ktrack=kcplink

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Corticobasal degeneration
Introduction In 1968, Rebeiz and his associates was the first identified Corticobasal Degeneration (CBD) Three individuals who shows different characteristic symptomps and unknown disorder being observed by them. Corticobasal degeneration(CBD) refered to the neurodegenerative disease and known as few names : Corticobasal degeneration with neuronal achromasia Corticonigral degeneration with nuclear achromasia Corticobasal ganglionic degeneration (CBGD) Corticobasal degeneration (CBD) cause damage to the basal ganglia. Corticobasal degeneration (CBD) also related to the movement disorder disease. Although the specific cause of corticobasal degeneration (CBD) is unknown, the damage of basal ganglia part occurs as a result of this disease. Neuronal degeneration of dipigmentation (loss of melanin in a neuron) In subtantia nigra.


Corticobasal degeneration (CBD) is a rare neurological disorder that associated with progressive brain degeneration. Corticobasal degeneration (CBD) also known as corticobasal ganglionic degeneration (CBGD). Corticobasal degeneration leads to loss of brain tissue and atrophy (shrinkage) of multiple areas of the brain including the cerebral cortex and basal ganglia. Especially the area in the upper and front section of the brain.

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APRAXIA / IDEOMOTOR APRAXIA (IMA)!!! Predominant movement disorders and cortical dysfunctions associated with corticobasal degeneration (CBD) may include : Parkinsonism Alien hand syndrome Apraxia ( Ideomotor Apraxia and Link Apraxia) Aphasia Inability to repeat or mimic particular movements with or without implementation of objects. Can be presented in hands and arms. Cause difficulties and trumbling in maintaining balances. APHASIA!!! As the disease progress, the individual loss the ability to speak. Facing difficulties in initiating spoken dialogue and also falls under the non- fluent (as opposed to fluent or flowing) disorder.

PARKINSONISM!!! complications in development. parkinsonism in cbd most present in an extremity such as arm and it always asymmetric. commonly involve movement dysfunction which are gait disorder, rigidity, bradykinesia. most typical manifestation parkinsonism in cbd is limb rigidity. of

leads to disruptions in gait and related movements.

Causes Related causes of Corticobasal degeneration (CBD) included :

ALIEN HAND SYNDROME!!! An individual cannot able to control the movements of his or her hand because of the sensation that the limb is foreign. Movement of the alien limb reacts to yhe external stimuli and do not occur sporadically or without stimulation. Subarachnoid hemorrhage Bleeding in the subarachnoid area of the brain because of the rupture of a blood vessel Area : space between brain and the skull. Subdural hematonia

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Collection of blood underneath the duro mater, the tough outer layer of the meninges, the membrane that surround the brain and also spinal cord Introcerebral hematoma Electrolyte abnormalities Diabetic cana Unconsciousness, state as complication of diabetes mellitus Hepatic encephalopathy

Clinical Presentation

A set of standard diagnostic criteria can be used which is centered on the deseases development because corticobasal degeneration (CBD) is progressive. Psychiatric and cognitive dysfunctions although occur in corticobasal degeneration (CBD) , but they are less prevalent and slightly lack establishment as common criteria of the presence of the disease. Sign and symptoms Gradual loss of brain tissue and symptoms usually begin between ages early 45 and 70 The initial symptoms includes : Stiffness Jerkiness Shakiness Slowness Clumsiness in movement (upper / lower extremity) Difficulty with articulation / calculation (dysarthria) Symptoms occurring on one side of the body first then gradually moving to the other side.

Cause by marked liver disease that results in disruptions of consciousness. Renal failure A condition of life- threatening in which there is a build up of waste and fluid in the body due to sever deferloration of kidney failure.

Cerebral metastases The spread of a neoplasm from a primary site to the brain Hypoxic encephalopathy

Complication There are several complications associated with corticobasal degeneration (CBD) disease: Prevalence Only 500-700 are diagnosed from suffer corticobasal degeneration (CBD) disease from 2000-3000 people. Chronic brain failure Myoclonus Parkinsonism

Other symptoms include : Balance difficulty in walking and balancing Memory having problems in short-terms memory such as repeating questions or misplacing objects.

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Muscle control difficult to control muscles of the face and mouth. Speech difficult in order to speaking and difficulty of comprehension language.

Magnetic Resonance Imaging (MRI) uses powerful radio waves and magnets to create a details threedimensional image of brain. to detect abnormalities/ changes in the brain

Individuals with having corticobasal degeneration(CBD) disease may having difficulties in completing several specific task : Opening a door Brushing ones teeth Using tools such as can opener -

Mental status and neuropsychological test some questions will be ask such as emotional state and daily routines and conduct tests to measure thinking skills (cognitive skills) psychiatric assessment to test behavior changes of patients, depression or other mental illness that occur.

Example : A patient may have difficulties with complex movements like dancing when a leg is affected. As the disease continues progresses, the patient may started to trip and fall. Besides, he/ she may experience uncontrollable movement of arm or leg.

Position emission tomography doctors will injects the patients with a small amount of radioactive material emission defectors been placed on the patients brain.. PET provides visual images of the brain act. SPECT measures the following of blood to various regions of the brain

Investigation A comprehensive neurological exam involves combination of one or more types of laboratoty evaluations : COMPUTERIZED TOMOGRAPHY (CT SCAN) #uses a series of x-rays to create a details three- dimensional image of brain. # detect abnormalities / changes in the brain.

Medical Management Treatments Corticobasal degeneration cant be cured and being slow down, but doctors can help manage the patients conditions. Individual that provided with medications. having symptoms specific therapy are or

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Example: > The treatment for Parkinsons Disease may partially respond to the rigidity and difficulty in walking.

Common side effects of levodofa : Nausea indigestion involuntary, physical movements, such as jerking mood changes- for example,feeling more anxious drowsiness Baclofen

The treatment are : Muscle relaxants or antiseizure medication -for muscle contractions and twitching Depressions or treatments for Alzheimers disease -suitable for individual that have memory and behaviour problems Surgical Medications > levodopa # medications that usually used to treat Parkinsons disease. # It usually less effective for people with CBD, but for certain people, it may provide moderate, short-term improvement in muscle rigidity and stiffness. # Increase the levels of brain chemical called dopamine by transmitting messages from brain (control and coordinate bodys movement). # Then, dopamine levels increase and causes a corresponding improvement in muscle tone.

Can be used to treat muscle rigidity and stiffness. Blocking some of the nerve signals that cause muscle stiffness. Side effects of baclofen : dizziness drowsiness constipation diarrhoea headache an increased need to urinate Colazepam

can be used to treat symptoms of muscle spams Side effect of clonazepam : Fatigue muscles weakness loss of co-ordination light- headedness

Conclusion As the conclusion, Corticobasal degeneration (CBD) or Corticobasal Ganglion Degeneration (CBGD) is one type of disease that commonly associated with the movement disorder and also cognitive disorder. This disease can be considered as the most seriously disease as it cannot be ascertained be cured.CBD is a progressive condition,that means the initial symptoms will become more severe over time and that new symptoms may develop. Symptoms

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progress can vary widely between individuals, but after the onset of the symptoms,people typically live for around eight years. People who suffer from this problem are very vulnerable for developing other complications such as pneumonia, which can lead to fatal.Even research into treatments for CBD is ongoing,but yet there still no current treatment. Hence, treatment for CBD just focused on relieving the symptoms, and ensuring the person with the condition by the best possible quality of this meaningful life. References Internets : asal_degeneration obasaldegeneration/Pages/Treatment.aspx sal-degeneration/ orticobasal_degeneration/corticobasa l_degeneration.htm

Reference book:

William W. HAY, JR, Professor, Department of Pediatrics Current Diagnosis and Treatment in Pediatrics, eighteen edition

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Definition Dyskinesis is synonym to dyskinesia. Dyskinesia is a movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements, similar to tics or choreia. Dyskinesia can be anything from a slight tremor of the hands to uncontrollable movement of, most commonly, the upper body but can also be seen in lower extremities. Discoordiation can also occur internally especially with the respiratory muscles and it often goes unrecognised. Dyskinesia is a symptom of several medical disorders and is distinguished by the underlying cause.

Medical Management Some authors suggest that the precipitating factor preceding episodes of paroxysmal dyskinesia is the most significant component in determining the course of the disease, the underlying disease mechanism (see "Pathophysiology"), and response to treatment. The duration of episodes also appears to have some effect on the disease course and treatment response. Paroxysmal kinesigenic dyskinesia (PKD): -In many patients with idiopathic paroxysmal kinesigenic dyskinesia

(PKD), episodes tend to lessen with age. In addition, the attacks may sometimes spontaneously disappear over time (remission). PKD responds well to therapy with various anticonvulsant medications. -For example, the anticonvulsant agent phenytoin (Dilantin), formerly known as diphenylhydantoin, was one of the first medications recognized as an effective therapy for PKD. Reports indicate that patients may also benefit from treatment with the anticonvulsants phenobarbital, primidone (Mysoline), valproic acid (Depakene), or the benzodiazepine clonazepam (Klonopin). -In addition, carbamazepine (Tegretol), another anticonvulsant agent, has been found particularly effective in most PKD patients. Some patients may also benefit from acetazolamide, which is a carbonic anhydrase inhibitor; combination therapy with acetazolamide and carbamazepine; or treatment with tetrabenazine (Nitoman, Xenazine), a monoamine-depleting agent. Although therapy with the dopamine precursor levodopa (L-dopa) has been effective for some PKD patients, others have not received benefit from such therapy.

Paroxysmal non-kinesigenic dyskinesia (PNKD): The non-kinesigenic episodes of idiopathic PNKD may also decrease in frequency and intensity over time in some patients. Unlike PKD, PNKD usually does not respond to anticonvulsant therapy. Yet, in some cases, patients may benefit from treatment with certain anticonvulsants, such as clonazepam,

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valproic acid or phenobarbital. Indeed, clonazepam (Klonopin) is often considered the medication of choice for PNKD. Benzodiazepines, a class of medications that act on the central nervous system, may be helpful in relaxing muscles, relieving anxiety, or promoting sleep. Other benzodiazepines also may have some effectiveness in PNKD, such as oxazepam (Serax) or diazepam (Valium). Other agents occasionally found effective for some patients include benztropin (Cogentin), possibly in combination with phenytoin; acetazolamide; carbamazepine; chlordiazepoxide; trihexyphenidyl; dopamine depleting drugs (e.g., tetrabenazine) or dopamine receptor antagonists (e.g., haloperidol). However, it is important to note that some patients report an exacerbation of symptoms when treated with antidopaminergic drugs. In addition, whereas therapy with the dopamine precursor L-dopa has been reported to aggravate symptoms, some patients have received moderate benefit from such treatment. Some researchers suggest that patients with long-lasting PNKD episodes may tend to have an increased response to medication than those with short-lasting attacks. In addition, in some patients with symptomatic PNKD, administration of appropriate therapies to manage an underlying condition, such as certain endocrine disorders (e.g., diabetes or idiopathic hypoparathyroidism), may alleviate non-kinesigenic episodes. Paroxysmal exertion-induced dyskinesia (PED) -In some patients with familial PED,

the attacks spontaneously remit; others may improve with certain benzodiazepines, such as clonazepam and the anticonvulsant agent carbamazepine. -Most patients, however, obtain no benefit from treatment with clonazepam, anticonvulsants, or other attempted therapies (e.g., levodopa, trihexyphenidyl, barbiturates). -Most patients with short-lasting PHD episodes benefit from carbamazepine. In some cases, other anticonvulsants may also be effective, such as phenytoin (Dilantin) or combination therapy with phenytoin and phenobarbital. o -In contrast, according to reports in the medical literature, those patients with long-lasting nocturnal attacks did not respond to anticonvulsant therapy, nor were administration of benzodiazepines or certain antipsychotic agents (phenothiazines) effective. o -However, a patient with long-lasting PHD secondary to head trauma had an effective response to therapy with the carbonic anhydrase inhibitor acetazolamide. o In addition to medical therapy, surgical interventions such as chronic thalamic stimulation, are being explored as potential therapies in patients with medically intractable paroxysmal dyskinesias

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Types Paroxysmal kinesigenic Dyskinesia more appropriate since the episodes are often not witnessed and therefore the movement disorder cannot be classified into choreic, athetotic, ballistic, or dystonic. In many patients with PKD, Paroxysmal kinesigenic dyskinesia or (PKD) is on of the type in dyskinesis. PKD is sudden attacks of involuntary movements, including dystonia, chorea, athetosis, or ballism precipitated by sudden movement [kertesz,1967]. The characteristic of this type of dyskinesia is, the symptom most commonly occurs when a patient stand up quickly or startle. For example the ringing bell. Hyperventilation or prolonged physical exercise may also trigger the attact. Many patient experience an aura like sensation. Symptom usually manifested unilaterally, but may alternate or even be bilateral. Limbs are more commonly involved ,but neck, face, and trunk may also affected. Males are more commonly affected than females with ratio of 3.75:1 [farh,1994) Mostly, PKDs are idiopathic, and in the majority, there is a family history of autosomal dominant inheritance with penetrance > 70%. Sporadic cases are reported frequently [Jankovic and Demirkiran, 2002]. Paroxysmal Nonkinesigenic Dyskinesia (PNKD) Paroxysmal Nonkinesigenic Dyskinesia (PNKD) is an episodic movement disorder first described

by Mount and Reback in 1940 under the name "Familial paroxysmal choreoathetosis". It is a rare hereditary disease that is affects various muscular and nervous systems in the body, passing to roughly 50% of the offspring. Paroxysmal dystonia (PED) exercise-induced

Paroxysmal exercise-induced dystonia (PED) is another one types of dyskinesis. It is a rare, typically idiopathic familial condition, although sporadic and secondary cases have been reported. It is because the number of reported cases that have been reported by people with PED is very small leading to difficulty in studying and classifying this disease and most studies are limited to a very small number of test subjects. Paroxysmal exercise-induced dystonia or PED is a rare neurological disorder characterized by sudden, transient, involuntary movements, often including repetitive twisting motions and painful posturing triggered by exercise or other physical exertion. biliary dyskinesia derangement of the filling emptying mechanism of gallbladder.

and the

dyskinesia intermittens intermittent disability of the limbs due to impaired circulation. tardive dyskinesia - an iatrogenic disorder of involuntary

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repetitive movements of facial, buccal, oral, and cervical muscles, induced by long-term use of antipsychotic agents, sometimes persisting after withdrawal of the agent. tardive dyskinesia is serious side effect of long-term use of drugs called neuroleptics. The most commonly used neuroleptics are older anti-psychotic drugs, including

suspected paroxysmal hypnogenic dyskinesia to help evaluate the occurrence of nocturnal episodes of involuntary movement. However, experts indicate that neuroimaging studies (e.g., CT or MRI) typically are not helpful in those with idiopathic (familial or sporadic) paroxysmal dyskinesia.

Investigation A diagnosis of paroxysmal kinesigenic, nonkinesigenic, exertion-induced, or hypnogenic dyskinesia is based upon a thorough clinical evaluation including; a complete physical and neurologic assessment evaluation of characteristic symptoms with assessment of episode duration frequency "trigger factors" or precipitants a careful patient and family history.

There is no definitive diagnostic test for these disorders. Certain blood tests, other laboratory studies, or neuroimaging or neurophysiologic studies may be conducted to eliminate similar disorders and to confirm or rule out underlying conditions that may result in secondary (symptomatic) paroxysmal dyskinesia. Such neuroimaging or neurophysiologic studies may include computerized tomography (CT) scanning or magnetic resonance imaging (MRI) to create detailed, cross-sectional images of certain bodily tissues and organs; electroencephalography (EEG) to detect or rule out potential seizure activity; or other techniques, such as specialized sleep studies (e.g., polysomnograms) in those with

The differential diagnosis of idiopathic paroxysmal kinesigenic dyskinesia (PKD) includes repeated seizures or epilepsy and hyperexplexia, also known as startle disease. Patients with hyperexplexia have an exaggerated startle response to unexpected stimuli. These heightened responses may cause stiffening and falling without loss of consciousness. Tetany, associated with hypocalcemia; may rarely mimic paroxysmal dyskinesias. It is characterized by muscular twitching and cramping; spasms at the wrist and ankle joints; spasmodic closure of the larynx, with an associated, high-pitched sound upon inhalation (stridor), and abnormal involuntary movements resembling chorea. The diagnosis of idiopathic, particularly sporadic, paroxysmal non-kinesigenic dyskinesia (PNKD) may include measures to help differentiate the condition from movement disorders in which symptoms have an emotional rather than an organic origin (psychogenic disease). The differential diagnosis of paroxysmal hypnogenic dyskinesia should also include various forms of epilepsy. However, EEG findings may provide evidence of seizure activity arising from a specific region of the cerebral cortex.

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Causes Tardive dyskinesia Tardive dyskinesia occurs primarily as a rare, but serious, side effect of neuroleptic drugs. This drugs are prescribed for the treatment of psychiatric, gastrointestinal and neurological disorders. Tardive dyskinesia usually occurs after months to years of neuroleptic drug use, but in some cases, it may begin after only six weeks of use. Medications known to cause tardive dyskinesia;

among patients and range in intensity depending upon the severity of the condition. The common dystonia;symptoms of tardive

Very often, tardive dystonia involves the muscles of the face, but the movements caused by the disorder may be more generalized and include other parts of the body as well. Symptoms of the disorder are often characterized according to where they occur in the body. Common symptoms include:

Chlorpromazine (Thorazine) Fluphenazine (Prolixin) Haloperidol (Haldol) Metoclopramide (Metozolv, Reglan) Prochlorperazine (Compazine) Trifluoperazine (Stelazine)

The risk factors for tardive dyskinesia:A number of factors increase the risk of developing tardive dyskinesia. Not all people with risk factors will get tardive dyskinesia. Risk factors of tardive dyskinesia is include:

Advanced age Female gender Substance abuse Use of neuroleptic drugs

Clinical Presentation Symptom of dyskinesia

Tardive Dystonia Tardive dystonia is a movement disorder characterized by muscle contractions and spasms that cause irregular and uncomfortable movements and postures. Tardive dystonia symptoms may vary

Spasmodic torticollis This symptom occurs when the muscles of the neck contract and pull the head down, causing an abnormal and uncomfortable posture. This is often the most painful type of tardive dystonia movement. Blepharospasm This symptom affects the muscles that control eyelid contractions and is characterized by movements that appear as prolonged blinking. Blepharospasm can result in vision problems and the inability to perform many everyday tasks, including reading or driving. Diurnal bruxism This symptom results in rhythmic, forceful contractions of the jaw muscles and causes teeth grinding while awake (but not while sleeping). Diurnal bruxism can result in severe pain and significant tooth damage. Dysphonia Dysphonia affects the muscles involved in breathing and speaking. Patients experiencing dysphonia often speak with a strangled and raspy voice and can sound as if they are out of breath.

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Ballismus Ballismus causes the arms or legs to involuntarily jut out from the body. Some individuals with this form of dystonia note that their movements are sometimes mistaken for aggression.

name a few), wind up affecting the function of voluntary muscle control. Diagnosing Tardive Dyskinesia Part of the difficulty in diagnosing tardive dyskinesia lies in the fact that symptoms are similar to other types of disorders, including Tourette's syndrome. One variety of tardive dyskinesia, known as tardive tourettism, is so similar that only careful study of the circumstances surrounding the onset of the disorder can determine which condition is actually present. Other similar disorders include tardive dystonia, akathisia and myoclonus. The first differs from other types of dystonia (muscle spasms and uncontrollable movements in the torso) in that the tardive variety is permanent and is drug-related as opposed to being caused by genetics, injury, infection or environmental toxins. Akathisia is more internalized and accompanied by inner anxiety. It is also more generalized, involving the entire body. Myoclonus manifests itself most often as brief, jerky contractions of a particular muscle group. However, the term actually refers to a symptom that may be the result of any number of neurological disorders. In most cases, a differential diagnosis is required in order to determine what strain of tardive dyskinesia is present. Characteristic Symptoms Regardless of the variety of the disease, tardive dyskinesia is characterized by sudden, uncontrollable movements of voluntary muscle groups. Signs of classic tardive dyskinesia normally consist;90

Diagnosis Symptoms of tardive dystonia can appear gradually, so it may not be immediately apparent that victims are dealing with a serious movement disorder. This, along with other factors, often makes it difficult to diagnose tardive dystonia and related movement disorders. There is no one test that can determine if a patient has the disorder; instead, doctors must carefully watch the movements at various intervals to determine whether or not they are involuntary and whether they worsen or improve over time. Individuals who suspect they have tardive dystonia should keep a diary of their symptoms, noting the location and severity of the movements, as well as how often they occur. Tardive Dyskinesia Symptoms There has been little research on the movement disorder known as tardive dyskinesia (TD), which affects approximately 20 percent of patients who have been treated for certain psychoses with medications known as dopamine antagonists. The symptoms of tardive dyskinesia are a side effect of medications that are targeted at the specific dopamine receptor involved in emotion and lower cognitive function. These medications, including metoclopramide (commonly known as Reglan, Deglan and Maxolon to

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Coordinated- experience movement in the limbs and digits. Interestingly, these involuntary movements are more pronounced when the patient attempts to relax. constant movements of the mouth Tongue- suddenly move about in a squirming, twisting manner. In extreme cases, the tongue may move well over 60 times a minute. jaw and cheeks- patient will move ther jaw up and down, for example as if chewing. Repeated lip smacking and puffing of the cheeks may also be present. Severity of the condition is indicated by the frequency of these movements or spasms. Any emotional arousal or agitation tends to cause these movements to decrease. Symptoms may disappear completely when the patient is asleep.

References Sources:

National Institute of Neurological Disorders and Stroke, ystonias/dystonias.htm

Tardive Dyskinesia Risk Treatments



There is no cure for tardive dyskinesia although the condition can be managed in some cases. Those who are at an increased risk for developing tardive dyskinesia are those who have been treated with dopamine antagonists for four years or longer; according to a study from the Yale University School of Medicine. Risk factors can also be aggravated by the use of alcohol and tobacco. Post menopausal women are also at greater risk because of lower estrogen levels.

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Introduction There is surgical therapy which was first used for the treatment of dystonia. It is used over 300 years ago when Isaac minnius find out problem at one of the neck muscles in a patient with cervical dystonia in 1641. At that time, there was problem of identifying the part of the brain that was affected. The surgical therapy is being practice to the patient and the report was unfortunately mixed with some surgical centers reporting great successes while others reported makes failures, with mixed result often occurring even within the same center. Advances in medical technology have helped to create the appropriate therapy with the syndrome of this problem. Result from this medical technology by increasing the improvement of the consistency of the treatment. The result lead to the development of brain pacemaker technology called deep brain stimulation or DBS. Definition: Dystonia syndrome is a movement disorder that causes the muscles to involuntarily contract, jerk or spasm. These involuntary muscle contractions may also result in forced repetitive and twisting movements or awkward, unnatural postures (Elizabeth Quinn, 2009). These muscle contraction also occur because of the abnormalities functioning of the brain. It can be experienced by children and adults. In this topics, we are discussing about dystonia syndrome in children.

Type, clinical presentation and medical management of dystonia syndrome As we know, dystonia is the sustained of muscle contraction which cause the twisting or repetitive movement. Two most important type of dystonia are primary (idiopathic) and secondary dystonia. Primary Dystonia The most important types of primary dystonia in children are dopa-responsive dystonia (DRD) and idiopathic torsion dystonia (generalized dystonia) related with the DYT1 mutation. Other type of primary dystonia is, myoclonus dystonia. Causes Genetic mutation or Unknown

The factor related to the primary dystonia is either there is a specific genetic mutation combined with environmental conditions or is unknown. Primary dystonia is suspected to be caused by a pathology of the central nervous system which come from those part of the brain concerned with motor function, such as basal ganglia, and the GABA (gamma-aminobutvric acid ) producing purkinje neurons. In other word, the main cause of primary dystonia is unknown.

Generalised dystonia
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Usually begin around the time when the child reaches puberty. The symptoms usually begins in one of the limbs before spreading to other parts of the body. The symptoms include muscle spasms, the limbs or torso can take on an abnormal, twisted postures, a foot, legs or arm can turn inwards, and body parts can jerk rapidly. 1) Dopa-responsive dystonia (DRD) Dopa-responsive dystonia (DRD) is also known as hereditary progressive dystonia with diurnal fluctuations or Segawa Syndrome. It is a type of generalized dystonia (affect any part of the body). DRD can be misdiagnosed as cerebral palsy. DRD usually present between 1 to 12 year old child with foot dystonia which affect their movement especially the way their walk. Causes Low doses of levodopa

2) Cervical dystonia This type of dystonia is also called torticollis. It affects the muscles in the neck. The contraction and spasms in neck muscles are the effect of cervical dystonia. Clinical presentation Head and neck twisting The head and neck being pulled forward The head and neck being pulled backwards The head and neck being pulled from side to side.

These symptoms can range from mild to severe. The symptoms of muscle spasms and contractions can lead to the additional symptoms of neck pain and stiffness. Medical management All the symptoms states can be relieved by touching the chin, neck or back of the neck. The reasons for this action is unknown. 3) Blepharospasm This syndrome affect the muscles around the eye. Clinical presentation Eye irritation Sensitivity to light (photophobia) Uncontrollable blinking Uncontrollable closing of the eye.

Clinical presentation Suffer with their gait. The sole of the foot may bend upwards The foot may turn outwards at the ankle Might also have muscle stiffness and spasm in their arms and torso.

Medical management Carbidopa/ levodopa is the mainstay of treatment in DRD. Levodopa is psychoactive drug which contain in certain kind of food,herb and dietary supplement. Levodopa is used to increase dopamine concentrations.

Focal late-onset dystonia(only affect one body part)

There can be various symptom during the day and maybe there are few or no symptoms when wake up in the morning but the symptoms get worse when the person get tired or under stress.

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Medical management A toxin injection called botulinum can help for the treatment of the facial spasm. The example of facial spasm is the eye. So this method can be used to treat blepharospasm. 4) Hemifacial spasm Clinical presentation Hemifacial spasm causes muscle on one side of the face to spasm The spasm become more prominent and troublesome when the person with this syndrome is under stress and tired.

can be used for this treatment. All patients received bilateral thyroarytenoid injections. 6) Oromandibular dystonia Oromandibular is a type of dystonia that affects the muscles in the mouth and jaws. This cause the mouth to pull outwards and upwards. Clinical presentation Usually the symptoms will occur when the person use their mouth such as talking and eating. The person with this type of dystonia might also have difficulties in swallowing (dysphagia). Medical management

Medical management The treatment is just the same as treatment for the blepharospasm. This is because it affects the facial. So botulinum can be injected to the patient with hemifacial spasm. 5) Laryngeal dystonia Laryngeal dystonia causes the muscles of the larynx (voice box) ) to spasm depending on whether the muscles of the larynx are spasming outwards or inwards. Clinical presentation The voice change whether strangled quality or a very quiet, breathy quality The treatment will begin with the use of medications and Botox injections. Dental appliances can also been used = (They are used for tooth grinding to reduce the symptoms).

Segmental late-onset dystonia 7) Myoclonus dystonia Myoclonus dystonia is a rare type of dystonia that affects the muscles in the arms, neck and torso (upper part of the body excluding the head and limbs). Clinical presentation It causes sudden jerk-like spasms which feel like experiencing an electric shock.

Medical management There has been no satisfactory treatment for this type of dystonia. Speech therapy, psychotherapy, and pharmacotherapy can also been used. Furthermore, injection of botulinum toxin

Medical management Benzodiazepines (particularly clonazepam) used to treat myoclonus


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dystonia improve both myoclonus and tremor. Anti-epileptic drugs, including valproate and topiramate, may also improve myoclonus Secondary dystonia (acquired dystonia) Secondary dystonia are those disorder in which the dystonia is due to another particular cause. Usually it involve the brain damage, or by some identified cause such as chemical imbalance. Causes Brought on after trauma Induced by certain drugs Result of diseases of the nervous system

Patient history Family history Laboratory studies such as blood and urine tests,and analysis of cerebrospinal fluid= (to reveal the presence of toxins ) Electrical recording techniques, such as electromyography (EMG) or electroencephalography (EEG) = (to provide a definitive diagnosis) Genetic testing for specific forms of dystonia Other tests and screening intended to rule out other conditions or disorders

Medical management The purpose of the medical management is to help lessen the symptoms of muscle spasm, pain and awkward postures. The various type of medical management are specific for the specific type of dystonia. The medical management include: Oral medication Mainstay of treatment No single drug helps to decrease number of individuals. Include levodopa, trihexyphenidyl, clonazepam, and baclofen

Clinical presentation Depression Lack of concentration Poor memory function Incontinence Constipation Dizziness Trouble sleeping Difficulty reading

Investigation There are no specific diagnosis to dystonia but there are some way that can be used as the investigation. Firstly, the doctor must be familiar with dystonia`s symptom and they must be able to identify the physical signs. The most important thing is, the history of the patient must be clear for the doctor`s record. Usually, the doctor in charge in the investigation of dystonia syndrome is the movement disorder neurologist. The investigation should include :

Botulinum toxin injection Treat some part of the body such as neck, jaw, hands or foot. Servical surgery can be done if there is no respond after the injection

Ablative surgeries Pallidotomy and thalatomy Intrathecal baclofen Deep brain stimulation

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6. Therapy Physical therapy Aquatic therapy Regular relaxation practices d/941769 7. a#Generalized_dystonias

Prognosis Dystonia`s patient who undergo treatment results positively in their lifestyle. Most of them had become educated, remain independent and active, work, date and marry, and enjoy children and family. Most cases of primary dystonia will usually stabilize within five years of onset. Diagnosis and treatment can often minimize the impact of clinical presentation and improve or maintain a person`s ability to function in everyday activities. References Books 1. Harvey S.Singer, Eric H. Kossoff, Adam L. Hartman , Thomas O.Crawford. Treatment of pediatrics neurologic disorder. 2005: 139-144 Internet 2. p?id=14 3. econdary_dystonias/74.php 4. ystonia/DS00684/DSECTION=alter native-medicine 5. NBK1414/

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Hereditary Spastic Diplegia


- this type has an autosomal dominant mode of inheritance and the responsible gene has been mapped to human chromosome 12. Classification i. Based on symptoms - pure hereditary spastic diplegia is spastic in the lower limbs - complex hereditary spastic diplegia when associated with other neurological signs, including ataxia, mental retardation, dementia, extrapyramidal signs, visual dysfunction or epilepsy.

Spastic Diplegia that had been formally identified as Littles Disease A type of cerebral palsy where both the arms and legs have abnormal stiffness. It is often affecting the legs and the affected person is a kid. Spastic diplegia means stiff or contracted muscles affecting two extremities causing weakness. Spastic diplegia is sometimes also called paraplegia. Though a large amount of scenarios are generally formed from cerebral palsy, it could be a hereditary sickness. Characteristically of spastic diplegia is in fact brought about through neurological malformations in or surrounding the ventricles. Types Hereditary spastic diplegia are divided into two types: i. Pure - involve only the lower limbs - example : spastic paraplegia 4 - this type has an autosomal recessive mode of inheritance and is due to a mutation in the SPG 4. ii. Complex - involve the upper limbs ( to a lesser degree) and the nervous system. - example : spastic paraplegia 11


Base on mode of inheritance - hereditary spastic diplegia is a group of genetic disorder, each caused by different genes that cause similar symptoms. - four different mode of inheritance (a) autosomal dominant

- represent the most common mode of inheritance - autosomal means that the hereditary spastic diplegia gene is located on one of the autosomal chromosomes. (b) autosomal recessive - forms of hereditary spastic diplegia are located on one of the autosomes. - they can be present in males or females and passed to males or females. (c) mitochondrial inheritance (d) x-linked recessive

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- some genes responsible for hereditary spastic diplegia are found on the x chromosome. iii. Based on patients age at onset Type l - age onset below 35 years - spasticity of the lower limbs is more marked Type ll - age onset over 35 years - muscle weakness, urinary symptoms and sensory loss are marked

unborn baby at higher risk for cerebral palsy.

Periventricular leukomalacia (PVL).

- Periventricular leukomalacia is damage of the white-matter that surrounds the ventricles. - periventricular white-matter is vulnerable to injury in the premature infant because the blood supply system, and some of the cells that make up the white-matter are not fully developed. - infections present in the mother increases the risk of PVL. Degeneration of the upper motor neurons in the brain and spinal cord.

Causes Infection - women who have an infection while they are pregnant - increased levels of cytokines immune system cells - caused by a maternal infection - can lead to damage of the unborn babys nervous system. - the cytokines produce inflammation to fight the infection, but the inflammation can damage the unborn babys still developing nervous system Seizures, mental retardation, thyroid - Women with seizures, mental retardation, or thyroid problems are a likely to give birth to a child with cerebral palsy. - Being exposed to a poisonous substance during pregnancy, also put the

- These neurons control voluntary movement; and the cell bodies of these neurons are located in the motor cortex area of the brain. - axons that travel to the brainstem and down the spinal cord. - The axons relay messages to lower motor neurons that are located all along the brainstem and spinal cord. - Lower motor neurons then carry the messages out to the muscles. - muscles become more spasticity and weakness. Genetic, disease. inherited or hereditary

- it is passed on from generation to generation

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- it is caused by abnormal variation (mutations) in the genes that may be passed on from an affected parent to the unborn child in the DNA. Clinical Presentation Symptoms: Difficulty with balance, stubbing the toe stumbling Increased urinary urgency and frequency hyperactive reflexes clonus Babinski's sign diminished vibration sensation in the feet muscle spasms, Muscle pain Difficulty with walking and scissor gait - caused by tight muscles in the hips and legs. Problems with speech, swallowing or breathing peripheral neuropathy, ataxia, mental retardation, and epilepsy deafness nystagmus arm, face and neck muscles are usually affected to a lesser degree than the legs

- sporadic cases. - specialized genetic testing targeted towards known genetic mutations are available at certain specialized centers. - cerebral and spinal MRI is an important procedure and also to detect associated abnormalities. Prognosis : 1. Hereditary spastic diplegia / paraplegia is a progressive condition and usually starts in the legs and then spreads to other muscles, leading to confinement the bed, the prognosis for individuals varies greatly. 2. Some cases are seriously disabling while others are less disabling and are compatible with a productive and full life. 3. The majority of individuals with hereditary spastic diplegia have a normal life expectancy. Medical Management Treatments for Spastic Diplegia : The treatment plan for cerebral palsy Spastic Diplegia is usually the mix of medications, physical therapy, selected dorsal rhizotomy (SDR) orthopedic surgery, leg braces as well as rehab.

Investigation Diagnosis : - diagnosis of hereditary spastic diplegia relies upon family history. - the presence or absence of additional signs and the exclusion of other nongetic causes of spasticity.

Physical Therapy - to restore and maintain the ability to move - to reduce muscle tone - to maintain or improve range of motion and mobility

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- to increase strength and coordination - to prevent complications such as frozen joints, contractures or bedsores.

- this drug can relieve the spasm of urinary bladder - help in controlling the flow of urine by increasing the capacity of the urinary bladder. References

Surgical interventions

- Orthopaedic surgery can be used to reduce the effects of contracture, relocate dislocated joints, assist with the production of power during walking and alleviating pain. - Selective Dorsal Rhizotomy (SDR) works to prevent the development of deformities by removes some of the sensory nerves - SDR surgery can improve speech, vision and leg function. hsp.php - -


- a voluntary muscle relaxant to relax muscle and reduce tone.

Botulinum toxin (BOTOX) - it release the muscle in which it is injected -not effective in large muscles - needs to be injected every three to four months Oxybutinin

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Definition A sudden, brief, jerky, involuntary movement. Introduction A symptom and not a diagnosis of disease. The movement are quite rapid and may be triggered by attempt at voluntary movement, sensory stimulation or startle. Myoclonic twitches or jerks happens because the sudden muscle contractions that is call positive myoclonus or muscle relaxation that is known as negative myoclonus. Myoclonus sometimes occurs in response to an external event or when a person attempt for making a movement and the twitching cannot be controlled by the person. Hiccup and sleep starts is the familiar examples of myoclonus. These type of myoclonus normally occur in healthy person and cause no difficulties. In some cases, myoclonus occur in one part of the body and spreading to another areas of muscles . However, the severe cases can disrupt movement and a persons ability to do a daily works such as feeding , walking, talking and etc. These types of myoclonus can indicate underlying disorder in the brain or nerves. Anatomically, myoclonus may originate of the lesions or wounds of the cortex , sub-cortex or spinal cord. shock like,

There are many types of MYOCOLONUS, such as ; I. Action myoclonus - is characterized by muscular jerking triggered or intensified by voluntary movement - is the most disabling forms and this types of myoclonus will affect the arms ,legs, face and the voices. - is it caused by brain damage because the lack of O2 and the blood flow to the brain when we inhales or because the heart is temporarily stopped pumping. II. Cortical reflex myoclonus - is a type of epilepsy that originates in the cerebral cortex - jerks usually involved only a few muscles in one part of the body, however jerks involving many muscles may occur - this type of myoclonus can be intensified when individual is try to move in certain way Essential myoclonus ~its occurs in the absence of epilepsy or other apparent abnormalities of the brain or nerves ~ its can happen to somebody eventhough people with no family history but it can also appear in the inheritance ~this type of myoclonus tends to stable without increasing in severity overtime ~in some of families, there will be an association of essential myoclonus, essential tremor and myoclonus dystonia.
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Palatal myoclonus ~is a regular , rhythmic contractions of one or both side of the rear of the roof of the mouth called soft palate ~these contractions is very rapid and occurring 150 times a minute then may persist during sleep, accompanied by myoclonus in other muscles likes face, tongue, diaphragm and throat. ~this condition is happen at adults ~some people with palatal myoclonus always regard it as minor problem, although them occasionally report of a clicking sound in the ear and a noise sound in the soft palate that made by the muscles Progressive myoclonus epilepsy (PME) ~this rare disorder is a group of disease characterized by myoclonus and epileptic seizures always get worse overtime and sometimes are fatal ~many of the PME disease is occur in the childhood or adolescence ~research have founds many forms of PME , lafora body disease is inherited as an autosomal recessive disorder, that it when a child inherits two copy of defective gene. This disease is characterized by myoclonus, epileptic seizures and dementia ~ a 2nd group of PME disease is belongings to the class of cerebral storage disease usually involves myoclonus, visual problems, dementia, and dystonia. ~then, the other group is the class of system degenerations often is accompanied by action myoclonus, and problem with balance and walking


Reticular reflex myoclonus ~is a type of epilepsy that originates in the brainstem ~myoclonic jerks is usually affect all part of the body with muscles on the both side of the body affected simultaneously and some of the people will experienced only a part of the body like a legs ~these myoclonus disorder can be triggered by either or voluntary movement Spinal myoclonus ~is myoclonus originating in the spinal cord including segmental ,propriospinal myoclonus ~the latter is usually due to a thoracic generator producing truncal flexion jerk ~it is often stimulus-induced with a delay due to the slow conducting propriospinal nerve fibres Stimulus-sensitive myoclonus ~is triggered by a variety of external events, including noise, light and movement ~surprise may increase the sensitivity of the subject/patient Sleep myoclonus ~is happens during the initial phase of sleeping ~somebody with sleep myoclonus are rarely troubled by or need a treatment for the condition ~however, this type of myoclonus may be a symptom in more complex or disturbing sleep disorder needs to see a doctor





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Causes Myoclonus may be caused by a variety of problems; Myoclonus may develop in response to infection, head or spinal cord damage, brain tumor, stroke, liver or kidney failure, lipid o storage disease, drugs poisoning and other disorder Hypoxia is the prolonged oxygen deprivation to the brain may result in posthypoxic myoclonus Then, myoclonus also occur because of itself, but most often it is one of same symptoms associated with wide variety of nervous system disorder. Myoclonic jerks is usually occur in person with epilepsy that is a disorder in which electrical activity in the brain becomes disordered leading to seizures. Jerks of a muscle group or a series in rapid sucession which result in the person jerking bolt upright from a more relaxed sitting position is seen ambulatory patient being treated with a lots amount of drugs such as morphine. It is also because by some of the unrelated drugs such as anticholinergics Beside that, pretidine and tramadol also can cause a jerk because the neurotransmitter did not have opioids. Then , it also caused by central nervos system.

Clinical Presentation Spontaneous ~The initial evaluation is taken to decide whether the myoclonus is spontaneous.Typically seen normally or in patients with metabolic encephalopathies or CJD Action ~which occurs during active muscular contractions , and is very disabling Reflex ~which occurs to somesthetic, visual and auditory stimulies

Besides that the other clinical presentation or is commonly known as a symptons is myoclonic seizures that can be describes as jumps. They are caused by rapid contraction and relaxation of the muscle. Person with no epilepsy can suffer a little but same jerks in the form of brief twitches or hiccups. People with epilepsy , myoclonic seizures cause abnormal movements on both side of the body at same time. In reflex , epilepsy , myoclonic seizures can bring on by flashing or environmental trigger. Severe cases of pathologic myoclonus can distort movement and severely limits of a person ability to walk, sleep, and talk .

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Myoclonic jerks commonly individuals with epilepsy.



Investigation History and examination is followed by a series of the investigation that can help to find the cause. There are many investigations will be done to know the myoclonus problem; Electroencephalography(EEG) ~this test is to record the electrical activity of your brain. o ~a small electrodes are attached on the patient scalp with paste. The patient will be asked to inhale steadily for a few minutes and at the same time light may be flashed in patients eyes. Electromyography(EMG) o ~this test will measure the electrical discharge produce in muscle. ~a very fine wire electrodes are inserted into the allocated muscle, an instrument record the electrical activity from the patients muscles o ~these signal help to investigate if there is a damage to the muscles. Magnetic resonance imaging(MRI) ~a test that uses magnetic and radio waves to take pictures of the inside of the body CT scan a type of x-ray that uses a computer to make pictures of the inside of the body. Blood test ; - blood chemistrty - thyroid function

complete blood cell count toxicology screen to check for drugs or toxic - blood test for looking other metabolic causes Medical management / Treatments There are many ways to treat this myoclonus disorder; Medications ~Tranquilizer such as Clonezepam, Diazepan and Lorazepam ~Anticonvulsants such as Keppra ,Tegretol , Topamax and Depakote Therapies ~Botox may be helpful in treating various form all types of myoclonus. Botox will block the release of chemical messenger that triggers muscle contractions Surgery ~Surgery will be an option if there are the lesion/wound in your brain or spinal cord References /what-is-myoclonus Myoclonus orders/myoclonus/detail_myo clonus.htm ealth/myoclonus/DS00754

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Retts Syndrome
Definition Rett syndrome is a childhood neurodevelopmental disorder characterized by normal development in early life. However, between 6 and 18 months of age, though, changes in the normal patterns of mental and social development begin. For example, patient will loss of purposeful use of hands, distinctive hand movements, slowed brain and head growth, gait abnormalities, seizures, and mental retardation. Rett syndrome is an autism spectrum disorder that affects girls almost exclusively. Although there's no cure, early identification and treatment may help girls and families who are affected by Rett syndrome. The disorder was identified by Dr. Andreas Rett, an Austrian physician. Types There are some types of Rett syndrome: Atypical Classical Provisional Rett syndrome is classified as atypical if: The disorder begins soon after birth or beyond 18 months of age, sometimes as late as 3 or 4 years old. Speech and hand skill problems are mild.

The disorder appears in a boy is very rare. Rett syndrome is classified as classical if the patient meets the diagnostic criteria. For example: The patient developed normally until the age 6 to 18 months. The patient has severely impaired language and communication skills. Rett syndrome is classified as provisional if some symptoms appear between ages 1 and 3. Stages There are four stages of Rett syndrome: Stage 1 (early onset) Generally begins between 6 and 18 months age. At this stage, symptoms of the disorder are overlooked because they vague. The baby starts to show less eye contact and not interested in toys. Delays in gross motor skills such as sitting or crawling will be occurring. Hand-wringing and decreasing in the growth of the head may be occur, but it still not enough to draw attention. Usually, this stage lasts for a few months but can persist for more than one year. Stage 2 (rapid destructive) Generally begins between ages 1 and 4 years old. At this stage, purposeful hand skills and spoken language are lost. Characteristic of hand movements start to appear. For example, wringing, washing, clapping, or tapping, as well as repeatedly moving the hands to the mouths.

Pediatric conditions Hand notes

Sometimes, hands are clasping behind the back or held the sides with random touching, grasping, and releasing. It happens while the children are awake and disappear while the children sleep. Breathing irregularities may occur and breathing back to normal during sleep. Display autistic-like symptoms occur in some girls with Rett syndrome. General irritability and irregularities in sleep may be seen. Initiating the motor movements will be difficult and gait patterns are unsteady. Slowing of head growth is noticed. Usually, this stage lasts for weeks or months. Stage 3 (plateau or pseudo-stationary) Generally begins between ages 2 and 10. At this stage, apraxia, motor problems and seizures are prominent. However, there may be improvement in behavior with less irritability, crying, and autistic-like features. Children with Rett syndrome may show more interest in their surroundings. Their alertness, attention span and communication skills also may improve. Many of the girls with Rett syndrome remain at this stage for most of their lives. Usually, this stage last for years. Stage 4 (late motor deterioration) At this stage, the prominent features are muscle weakness, rigidity, spasticity, dystonia and scoliosis. Girls who are can walk before this may stop walking. There is no decline in cognition, communication, or hand skills.

Repetitive hand movements will decrease and eye gaze will improve. Usually, this stage last for years or decades and is characterized by reduced movement. Causes Rett syndrome is caused by a mutation in the MECP2 gene, which is located on the X chromosome. The X chromosome is one of two chromosomes that form the gender of a person. Researchers found that the MECP2 gene is one of the genes that responsible for making a protein needed for normal brain development. The research was identified in 1999. In each cell, girls have two X chromosome. Every cell inactivates one of its two X chromosomes because a cell just needs only one copy of the gene. The more cells that have an inactivated version of the mutated gene, the milder the case of Rett syndrome. Whereas, the boys have one X chromosome and one Y chromosome. Usually, boys will die from mutations in Rett syndrome gene before the birth or in early life because they lack the second normal X chromosome. The second X chromosome partially protects the girls. Seventy to 80 of girls that faced with Rett syndrome have a mutation of the MECP2 gene. Scientists think that the other 20 to 30 percent of cases the syndrome may be caused by mutations in other parts of the MECP2 gene. It may be by partial gene deletions or by genes that have not yet found.

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Clinical Presentation Signs of Rett Syndrome Children with Rett syndrome do not make conversation. Children with Rett syndrome have a problem with learning and reasoning or in the other hand, it called intelligence. Cannot control the use of hands and puts her hands in the mouth often also the sign of Rett syndrome. The growth of the head becomes slowly not like the other parts of the body also the sign for the children with Rett syndrome. Children with Rett syndrome also walk in an unstable manner, on tiptoes or with the feet spread wide apart. Children with Rett syndrome also have problem breathings and problem sleeping during normal. They also have to face with seizures and scoliosis. Symptoms of Rett Syndrome The rate of growth becomes slow. After birth, the brain growth with slowly. Usually, the first sign that a child has Rett syndrome is the size of head smaller than normal. That sign start to appear after 6 months of age. Delayed growth in other parts of the body becomes evident when the children with Rett syndrome get older. The children with Rett syndrome will loss the normal movement and coordination. Usually, it starts between 12 to 18 months of age. The decreasing of hand control and ability to crawl or walk normally are the first signs that often include in Rett syndrome. At

first, the decreasing of this ability happens rapidly and then continues more gradually. The children with Rett syndrome also will loss the abilities of communication and thinking. At ages 12 to 18 months, they typically begin to lose the ability to speak and communicate in other ways. They also become uninterested in other people, toys and their surroundings. Over time, most of them gradually regain eye contact and develop nonverbal communication skills. The children with Rett syndrome have an abnormal hand movement. As the disease progresses, the children typically develop their own particular hand patterns. For example, hand wringing, squeezing, clapping, tapping or rubbing. Eye with unusual movements also the symptom for the children with Rett syndrome. Examples of unusual eye movements are blinking or closing one eye at a time. Problems in breathing include breathholding, abnormally rapid breathing and forceful exhalation air or saliva also one of the symptoms that will face by the children with Rett syndrome. These problems happen during waking hours, but not during sleeps. Irritability also the symptom of Rett syndrome. The children with Rett syndrome become more agitated and irritable when they get older. They will cry or scream with suddenly and will last for hours. Between the ages of 2 and 10 years old, the children become calmer. Children with Rett syndrome have abnormal behaviors. For example, sudden, odd facial expressions and long bouts of laughter, screaming that occur for no reason,

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hand licking, and grasping of hair or clothing. Seizures also the symptom for Rett syndrome. Most of the children with Rett syndrome will have the development of seizures. Symptoms different from person to person, and they can range from periodic muscle spasms to full-blown epilepsy. Abnormal curvature of the spine or scoliosis occurs in children with Rett syndrome. Usually, it begins between 8 and 11 years old. Children with Rett syndrome also have an irregular heartbeat or arrhythmia. For the children and adults that have Rett syndrome, this is a life-threatening problem. Constipation is a common problem in people that have Rett syndrome. Investigation Blood and urine tests; analysis of cerebrospinal fluid (CSF), neurophysiologic tests, such as electromyography (EMG) and Nerve conduction velocity (NCV) studies, and neuroimaging techniques, including computerized tomography (CT) scanning or magnetic resonance imaging (MRI) to eliminate possible neurodegenerative, neurometabolic, mitochondrial, or other disorders that may have similar symptoms. Electroencephalography (EEG) detect brain wave patterns that are unusually slow, characteristic of certain types of seizure activity, or associated with abnormal sleep patterns. X-ray confirm relative shortening of certain bones. Electrocardiography to detect heart conduction abnormalities.

Developmental landmarks generally in head circumference and growth progress Nutritional markers weight and height of the patient Musculo-skeletal status muscle tone, supine posture for scoliosis and joint contractures Movements gross motor function, involuntary movements and voluntary hand use. Mental and cortical functions intellectual disability, speech and epilepsy. Brainstem and autonomic functions disturbed awake breathing rhythm, poor peripheral circulation, mood disturbance and sleep disturbance. Medical Management There are various treatments for the various health issues of Rett syndrome. For example:

Naltrexone (ReVia) is an opiate antagonist that can help regulate irregular breathing. Yet, a study suggests that the drug speeds up the progression of the disease. Levodopa (L-dopa) therapy is a synthetic dopamine drug that can help relieve muscle stiffness. Some people with Rett syndrome who take anticonvulsants to prevent seizures experience carnitine deficiency. Levocarnitine (L-carnitine) effectively treats the deficiency. Tyrosine (dopamine and noradrenalin) and tryptophan (serotonin) are amino acids that can improve neurotransmitter levels in the brain.

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Bromocripitine (parlodel) can improve the brain's dopamine function. The drug helps with self-stimulatory hand movements. Intake of nutritional and caloric must be controlled. Supplemental feedings is used to deal with slowed growth. A feeding tube is necessary if the child has difficulty chewing. A nasogastric feeding tube will directly deliver the liquid nutrients to the stomach through a tube inserted in the nose. Special diets can help a person to maintain an ideal weight and nutritional balance, which may contribute toward making symptoms less severe. Advantage of providing a normal intake of fluids and high-fiber foods is to avoid or relieve constipation. Calcium and minerals supplements help to build up the bones and slow the progression of scoliosis. Prognosis The course of Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Despite the difficulties with symptoms, most individuals with Rett syndrome continue to live well into middle age and beyond. Because the disorder is rare, very little is known about long-term prognosis and life expectancy. Currently, there is no cure for Rett syndrome. Treatment for the disorder is symptomatic. It only focusing on the management of symptoms and requiring a multidisciplinary approach. Treatment of Rett syndrome includes:

Medication may be needed for breathing irregularities and motor difficulties, and antiepileptic drugs may be used to control seizures. There should be regular monitoring for scoliosis and possible heart abnormalities. Occupational therapists will help children develop skills needed for performing self-directed activities such as dressing, feeding, and practicing arts and crafts. Physiotherapy and hydrotherapy may prolong mobility. Physical therapy responsible to keep the muscles of the hands from contracting. Speech therapy may be necessary if the child has problems in speaking, communicating or swallowing. Some children may require special equipment and aids such as braces to arrest scoliosis, splints to modify hand movements, and nutritional programs to help them maintain adequate weight. Special academic, social, vocational, and support services may also be required in some cases. References 1. -syndrome/DS00716 2. t/details rett.htm 3. ealth/PMH0002503/ 4. 5. ions/rett syndrome.php 6.

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Definition Child development refers to the process in which children go through changes in skill development during predictable time periods, called developmental milestones. Developmental delay occurs when children have not reached these milestones by the expected time period. For example, if the normal range for learning to walk is between 9 and 15 months, and a 20-month-old child has still not begun walking, this would be considered a developmental delay. Developmental delays can occur in all five areas of development or may just happen in one or more of those areas. Additionally, growth in each area of development is related to growth in the other areas. So if there is a difficulty in one area (e.g., speech and language), it is likely to influence development in other areas (e.g., social and emotional). A child may have a developmental delay in one or more of these areas.

keeping balance, and changing positions. Fine motor: using hands and fingers to be able to eat, draw, dress, play, write, and do many other things. Language: speaking, using body language and gestures, communicating, and understanding what others say. Cognitive: Thinking skills including learning, understanding, problemsolving, reasoning, and remembering. Social: Interacting with others, having relationships with family, friends, and teachers, cooperating, and responding to the feelings of others. TYPE

There are various types of developmental delays in infants and young children which are listed below : 1. Attention Deficit Disorder (ADD)/ Attention Deficit Hyperactivity Disorder (ADHD) One of the most common neurobehavioural disorder, characterized by problems with inattentiveness, over-activity, impulsivity or a combination. 2. Angelman Syndrome A genetic disorder in which gene 15 is missing or unexpressed. Children with this syndrome typically developmental delays that are frequently evident between 6-12 age. 3. Autism Spectrum Disorders

Gross motor: using large groups of muscles to sit, stand, walk, run,

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Autism is an umbrella term for a wide spectrum of disorders Sometimes referred to as Pervasive Developmental Disorders or Autism Spectrum Disorders. 4. Bipolar Disorder Also known as manic depression A form of mood disorder characterized by variation of moods that fluctuate between a manic phase of elation, hyperactivity and hyper imagination, and a depressive phase f inhibition, slowness to conceive ideas and move, and anxiety or sadness. 5. Central Auditory Processing Disorder (CAPD) Children with CAPD cannot fully process auditory information passed between the ear and the brain. They may have difficulties hearing amidst distracting background noise, remembering information, discriminating between similar sounds or words, or listening long enough to complete a task. It may affect their ability to develop normal language skills, succeed academically, or communicate effectively.

6. Cerebral Palsy Disorder caused by damage to the brain that occurs before, during, or shortly following birth.

It affects body movement and muscle coordination such as seizures, abnormal speech, hearing and visual impairments, and mental retardation. 7. Down Syndrome Chromosomal abnormalities that changes the course of development and causes the characteristics associated with the syndrome. Speech and language may be delayed 8. Expressive Language Disorder Child will have problems expressing him or herself in speech. Characteristics may include limited vocabulary, difficulty recalling words and producing complex or lengthy sentences. Children with expressive disorder often start speaking late and experience delays acquiring expressive language. 9. Fragile-X syndrome Most common form of mental retardation More common in boys than girls. Often have distinctive physical feature such as long face, large prominent ears and hyperextensible joints. 10. IsoDicentric 15 Also known as idic (15) Patient may experienced flat nose (button nose), folds at the corner of the eyes and other may be present. 11. Landau-Kleffner Syndrome Progressive loss of the ability to understand and use spoken

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language, following a period of normal speech development. Most frequently occur in developing children who are between 3 to 7 years old. 12. Learning disabilities (LD) Characterized by difficulty learning, sorting and storing information. Usually affected individuals have with average or above average intelligence. They may have one or more difficulties with skills such as listening, speaking, reading, writing, reasoning, or mathematical abilities that interfere with academic performance. 13. Mental retardation Substantial limitations in intellectual functioning and adaptive skills. Person with mental retardation may have difficulties with communication, conceptual skills, social skills, self care, home living, community use, self direction, health and safety, functional academics, leisure and work. 14. Neural Tube Defects Birth defects that involve central nervous system. The disability that may occur including learning disabilities, social issues, lower extremity paralysis, loss of bowel or bladder control, and hydrocephalus . These disabilities can produce retardation unless it is surgically treated.

15. Phenylketonuria (PKU) Is an inherited metabolic disorder in which the body cannot metabolize the amino acid phenylalanine that is present in many common foods. PKU can cause various degree of mental retardation, seizures, and other neurological problems. 16. Pruder-Willi Syndrome Prader-Willi Syndrome is a combination of birth defects caused by inheriting both copies of the #15 chromosome from the mother (25%) or by inheriting a deletion of a region of chromosome #15 from the father (75% of PWS). Signs of PWS include hypotonia, global developmental delay evident before age 6, feeding problems in infancy, narrow face, almondshaped eyes, small-appearing mouth, hypopigmentation, motor planning problems, behavioral problems, sleep disturbances and compulsive eating problems. 17. Seizure disorder It may cause physical convulsion, minor physical signs, thought disturbances, or a combinations of symptoms that are the result of uncontrolled electrical activity in the brain. The patient may occur one or more different types and levels of severity of seizures. 18. Tourette Syndrome Tourette Syndrome is a neurological disorder characterized,

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in mild form, by recurring involuntary body movements and sounds (called tics) and, in advanced cases by large involuntary bodily movements, noises like barks and whistles, and in many instances an uncontrollable urge to utter obscenities. People with Tourette Syndrome are often impulsive and have other symptoms of Attention Deficit Disorder. 19. Traumatic Brain Injuries TBI is a disabilities category that occurs because of brain injury to the brain as a result of an accident, insufficient oxygen, poisoning or infection at any time during individuals life. It does not include congenital or degenerative brain injuries or brain injuries caused by birth trauma. 20. Williams Syndrome Rare genetic disorder present at birth at is associated with deletion of genetic material in chromosome 7. The disorder is characterized by unique elfin facial features, heart and blood vessels problem, elevated blood calcium levels, slow weight gain, feeding problems, colic, dental problems, kidney problems, hernias, and hypotonia.

Causes Three main causes of developmental delay. genetic complications in prenatal, natal and post natal environment by

1) Developmental delay cause genetic autism spectrum disorder down syndrome fragile X syndrome

Developmental delay cause by complication in prenatal, natal and post- natal Prenatal drug abuse alcohol smoking brain trauma ex : mother had an accident during pregnancy and may cause brain damage to the baby


Natal Premature birth premature baby`s brain didn`t fully develop. Encephalitis It is an irritation and inflammation of the brain that lead to the destruction of nerve cells, bleeding into the brain (intracerebral hemorrhage), and brain damage. Brain trauma

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Ex : doctor`s equipment hits baby`s head Post - natal fatal exposure to toxins brain trauma Ex : baby falls down meningitis is an inflammation of the meninges, the membranes that cover the brain and spinal cord.

way of thinking, behaving. Illness.



Sign and symptom There are several general sign and symptom of this developmental delay. These include : Behavioral Signs Does not pay attention or stay focused on an activity for as long time as other children of the same age. Avoids or rarely makes eye contact with others Shows aggressive behaviours and appears to be very stubborn compared with other children Displays violent behaviours on a daily basis Does not seek love and approval from the caregiver or parent

3) Developmental delay cause by environment malnutrition unbalanced diet in which certain nutrients are lacking, in excess (too high an intake), or in the wrong proportions metabolic disorder abnormal chemical reactions in your body disrupt metabolic process child abuse abuse: to treat in a harmful, injurious, or off ensive way child abuse is physical, sexual, emotional mistreatment, or neglect of children. learning abnormalities socio-emotional development is changes in a person's emotions, relations with others, self-concept, and personality, which is a stable

Gross Motor Signs Has stiff arms and / or legs Has a floppy or limp body posture Uses one side of body more than the other Has a very clumsy manner compared with other children of the same age

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Vision Signs Seems to have difficulty following objects or people with his eyes Rubs eyes frequently Turns, tilts or holds head in a strained or unusual position when trying to look at an object Has difficulty focusing or making eye contact Eyes appears to be crossed or turned Brings objects too close to eyes to see One or both eyes appear abnormal in size or coloring

1)The practicalities of carrying investigations on child/subject 2)Financial considerations 3)Identifying prevalent conditions.The examples are Kinase and Muscular Dystrophy 4)Identifying treatable conditions


serious Creatine

Investigation methods 1)Genetics -Chromosome analysis shows the highest number of abnormalities investigating developmental delay -Chromosome and Fragile X are located in first line investigations if history and examination do not reveal an obvious etiology. -Fragile X indicates the commonest factor of learning disability 2)Neuroimaging -Day case admission to hospital for sedation or general anaesthesia is required if cranial MRI[Magnetic Resonance Imaging] is conducted for child below 5 or 6 years. 3)Metabolic -Individual Inborn Errors of Metabolism [IEM] can present with non-specific developmental delay. -Usually these errors are rare to occur -Metabolic investigations are specific

Hearing Signs Talks in a very loud or very soft voice Seems to have difficulty responding when called Has difficulty understanding what has been said or following directions Doesnt startle to loud noises Ears appear small or deformed

Investigation Investigation of developmental delay is carried out during the early lifes child. The investigation of this abnormal condition might be difficult. Regression is necessary to be defined out. When performing investigations, the approach to perform it is influenced by:

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5)Renal, Bone -Electrolytes and Urea are placed in first line investigations -Calcium measurement may assist in the diagnosis of Velo-cardio-facial and Williams syndrome,pseudohypoparathyroidism. 6)TFT[Thyroid Function Test] -Thyroid Function tests are easy to be performed -Many chromosomal abnormalities are associated with an increased risk of thyroidism 7)Lead -Chronic lead toxicity may cause long lasting developmental delay, behavorial and poor coordination -Treatable by chelation 8)FBCF -Full Blood Count and Feritin[FBCF] detects iron deficiency which may lead to developmental delay -It is treatable 9)Opthalmology

Medical Management There is no one treatment that works for every child with a developmental delay. In many cases, the delay can be overcome with the right combination of treatment by the therapies. Children are unique, they learn and grow and develop in their own way, at their own pace, based on their strengths and weaknesses. Any treatment plan will take this uniqueness into account and be designed to focus on individual needs. Early intervention services are the main theme of treatment, but any underlying conditions that have lead to developmental delay will need to be treated as well. Early intervention services may include:

Speech and language therapy. Occupational therapy. Physical therapy.

In addition, if there are other disabilities present, medical or surgical treatments may be required to manage those conditions. Reference

-Opthalmology is performed when there are concerns about visual function, abnormal appearances of eyes. 10)Radiograph -Mainly performed to detect suspected skeletal dysplasia or lead toxicity. ther_disorders.htm gnizing-developmental-delays-birth-age-2 cio-emotional_development


Pediatric conditions Hand notes e developmental_delay_in_children/common. htm =what-causes-developmental-delay


Definition Mental Retardation is a condition diagnosed before age 18 that includes below-average general intellectual function, and a lack of the skills necessary for daily living. The person who faced with this disease has a noticeable deficiency in the development of motor, social, cognitive and language functions. Types There are 4 types of mental retardation. Mild Mental Retardation Mild mental retardation is approximately 85% of mentally retarded population.The patient is often acquire academic skills up to sixth-grade level.He can become fairly selfsufficient and in some cases live independently,with community and social support. Moderate Mental Retardation This kind of mental retardation is 10% of mentally retarded population. The patient can carry out work and self-care tasks with moderate supervision. He is typically acquire communication skills in childhood. He also is able to live and function

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successfully within the community in such supervised environments as group homes. Severe Mental Retardation It covers about 3-4% of mentally retarded population. The patient may master very basic self-care skills and some communication skills. They are able to live in a group home. Profound Mental Retardation This profound mental retardation is only 12% of mentally retarded population.The patient may be able to develop basic selfcare and communication skills but with appropriate support and training.Moreover,this type of patient need a high level of structure and supervision.


Chromosomal Abnormalities Chromosome deletion (such as Cri Du Chat) Chromosome translocation (a gene is located in an unusual spot on a chromosome, or located on a different chromosome than usual) Defects in the chromosome or chromosomal inheritance (such as Fragile X Syndrome, Angelman Syndrome,Prader-Willi Syndrome) Errors of chromosome numbers (ex : Downs Syndrome )

Environment Deprivation Syndrome And Inherited

Table 1 shows types of mental retardation with different IQ level : LEVEL OF MENTAL IQ RETARDATION LEVEL Mild Mental Retardation 50-69 Moderate Mental Retardation 36-49 Severe Mental Retardation 20-34 Profound Mental Retardation Below 20 Table 1 Causes Infections (at birth/after birth) Congenital CMV (Cytomegalovirus) Congenital Rubella Congenital Toxoplasmosis Encephalitis HIV infection Listeriosis

Genetic Abnormalities Metabolic Disorders

Adrenoleukodystrophy Galactosemia Hunter Syndrome Hurler Syndrome Lesch-Nyhan Syndrome Phenylketonuria Rett Syndrome Sanfilippo Syndrome Tay-Sachs Disease Tuberous Sclerosis

Metabolic Congenital Hypothyroid Hypoglycemia (poorly Diabetes) Reye Syndrome


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Hyperbilirubinemia (very bilirubin levels in babies)


Moderate Mental Retardation 1. Reach developmental milestones a bit later than others 2. Child faces difficulty in learning basic communication, social and academic skills 3. Have lacks ability to retain information and remember things 4. Also have lacks curiosity, logical thinking and problem solving capability 5. Need constant supervision and care for survival 6. They are trainable for vocational activities Severe Mental Retardation 1. Shows all mentioned symptoms of mild and severe, but a very high level 2. Shows aggressiveness and self-injury 3. Child not able to learn the basic skills of life 4. Needs another persons nursing, supervision and care throughout his entire life 5. The children can be trainable with activity of daily living (ADL) Profound Mental Retardation

Nutritional Malnutrition

Toxic Intrauterine exposure to alcohol, cocaine, amphetamines and other drugs Lead poisoning Methyl mercury poisoning

Trauma (before and after birth) Intracranial hemorrhage Lack of oxygen to the brain Severe head injury

Unexplained Cause It is the largest category of cause of mental retardation

Clinical Presentation Mild Mental Retardation 1. Have learning difficulties and poor social skills 2. Can reach the educational plateau up to Grade 6 3. The educational attainment is very difficult or impossible 4. With age until childhood,he may learn enough job skills and life skills to carry forward his life on his own

1. There is no muscle co-ordination seen in the infant 2. Child not able to reach developmental milestones like talking,walking and crawling as expected with age and growth 3. Child requires constant care and supervision throughout his life

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Investigation We can assess the patient who suspected with mental retardation by a lot of ways. Some of them are : Physical Examination The therapist should looking for any characteristic dysmorphic (abnormality of shape) features of face and body. Interviews With Parents It is to assess the childs daily living,muscle control,communication and social skills. Denver Developmental Screening Test Used for screening cognitive and behavioural problems in preschool children. Electroencephalogram It is used to detect associated epilepsy. IQ Test IQ Test is used to assess the patients intelligence. There are a few types of IQ Test : 1. Wechsler Intelligence Scale For Children 2. Stanford-Binet 3. Woodcock-Johnson Tests of Cognitive Abilities 4. Kaufman Assessment Battery For Children

Radiological Investigation MRI and CT Scan are used to detect the presence of physical findings that are unseen by humans eye.

Medical Management MEDICINE Anti-Psychotics Anti-psychotics used to control the symptoms of mental retardation. SURGERY Surgery is rare to manage the child with mental retardation. REHABILITATION Occupational Therapist: Occupational Therapist help patient acquire the skills to care for themselves or others which including : Keeping a schedule Medication management Education Participate in the community Engaging in productive activities to fill the day Coping skills Building social skills Physiotherapist: Therapist help to the impairments of vision, ambulation, activities of daily living (ADL), movement and muscle strength. Therapist also focus the treatment on

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improving gross and fine motor skills,balance and coordination,strength and endurance as well as cognitive and sensory processing/integration. Family Therapy Family members should be interactive and co-operate each other to help the patient to develop their coping skills.This therapy also can be supportive to the patient and produces warm home environment which can help patient to reach their full potential.

References 1. Frankenburg, W.K. and Dodds, J.B.: The Denver Developmental Screening Test. J. Pediat., 71:181, 1967. 2. Frankenburg, W.K., Dodds, J., Archer, P. et al.: The DENVER II: A major revision and restandardization of the Denver Developmental Screening Test. Pediatrics, 89:91-97, 1992 3. Camp, B.W.: Evaluating bias in validity studies of developmental/ behavioral screening tests, 2007,28,234-240. 4. Begg, C.B.Biases in the assessment of diagnostic tests. Stat Med 1987;6:411-423

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Pervasive Development Disorders

Introduction The term pervasive development disorder was first used in the 1980s to describe a class of neurological disorders that involve impaired social and communication skills and repetitive behaviors. Due to the difficulty of accurately describe these disorders using the term pervasive development disorders, some neurological and psychiatric specialists have suggested a new term to describe this class of disorders, including autistic spectrum disorders and various neurological disorders system.

regression of early speech and sociability. Classical autism is best known subtypes of the disease and involves severe qualitative deficits in social interaction, language communication and play and is associated with perseverative behavior and stereotypic. Other conditions that fall under this category of Pervasive Development Disorders including Aspergers disorder, Rett's disorder, Childhood Disintegrative Disorder and Pervasive Development Disorder Not Otherwise Specified (PDDNOS). Types There are 5 main types of pervasive development disorders : Autistic Disorders Autistic Disorder, sometimes referred to as early autism baby or child autism, is four times more frequently in boys than girls. Autistic Disorder children have moderate to severe range of communication, socialization and behavioral problems. Many children with autism also have mental retardation. Retts Disorder Retts Disorder, also known as Rett syndrome, diagnosed primarily in females. In children with Retts Disorder,

Definition Pervasive development disorders (PDD) refers to a group of conditions that come from childhood involving severe damage in several areas, including physical, behavioral, cognitive, social and language development.

PDD appears in the early stages as an affected, but more often identified in young children, mostly boys 18-30 months of age when their parents or doctors note the absence or delay in speech development and less interested in normal children or other

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development seemed normal over the first 6-18 months at the point where parents notice changes in their child's behavior and some regression or loss of ability, especially in gross motor skills like walking and moving . This was followed by a clear loss in abilities such as speech, thought, and the hand use. The repetition of certain movements or meaningless gestures is an important indicator for the diagnosis of Rett's Disorder. This gestures usually consists of regular hand-wringing or hand washing. Childhood Disintegrative Disorder Childhood Disintegrative Disorder is extremely rare, it is clearly apparent regression in a variety areas of functioning (such as the ability to move, bladder and bowel control, and social and language skills) following a period of at least 2 years of development seems normal. By definition, childhood Disintegrative Disorders can only be confirmed when symptoms are preceded by at least 2 years of normal development and the beginning of the decline was prior to 10 years. Asperger's Disorder Asperger's Disorder, also referred to as Aspergers syndrome, are disorders

characterized by lack of development of social skills, difficulty with social relationships, poor coordination and focus, and a variety of limited interest, but normal intelligence and adequate language skills in the areas of vocabulary and grammar. An individual with Asperger's Disorder do not have a significant delay in language development, but he may have difficulty to understanding the subtleties used in conversation, such as irony and humor. Pervasive Developmental Disorder Not Otherwise Specified, or PDDNOS This category is used to refer to children who have significant problems with communication and play, and some difficulty interacting with others, but are too social to be considered autistic. Typically, children with PDDNOS showed no signs until age three or four. Causes The cause of this disorder is unknown although brain structure abnormalities, genetic mutations, and changes in brain function is believed to play a role. However, no single brain abnormalities or location is connected to the cause. In 2004, scientists reported finding the gene

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mutation (in the gene MECP2) are present in 80% of people affected with Rett's syndrome. In 2004, a comprehensive review of research on twins revealed that the interaction between various genes may play a role in the cause of autism. Several neurological conditions such as epilepsy, is usually found to accompany this disorder.

However, each child may experience symptoms differently.

Signs of autism may include:

Social interaction is not well with others, including parents * avoid making eye contact with others, including parents * failure to develop friends or interact with other children Do not communicate well with others Delayed or does not develop language Have echolalia (repeating words or phrases repeatedly, like an echo) demonstrate repetitive behaviors is preoccupied, usually with lights, moving objects, or parts of objects do not like the sound

Clinical Presentation Signs and symptoms


developmental disorders symptoms can be seen as early as the development of early stage, the usual starting age is the age of three. Although each of the five with its own symptoms, in general, the early symptoms of a comprehensive development disorders including the following: language listening skill difficulties associated with people, objects, or activities unusual play repetitive body movements or behavior patterns difficulty in handling changes in routine or environment unusual responses to sensory stimuli, such as lighting and noise

Signs of Asperger's disorder may

include: normal development of speech, self-help skills, thinking skills (cognitive development), and curiosity about their environment difficulty with social interaction, such as making friends, sharing ideas, facial expressions (smile), or eye contact with others

The following are the most

common symptom of several disorders overall development.

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Symptoms of Retts disorder may

include: Growth of normal pregnancy, birth, and newborn development normal growth and development during the first 5-18 months of life normal head circumference at birth

Investigation Diagnosis o Pervasive development disorders are diagnosed using Diagnostic and Statistical Manual of Mental Disorder (DSM), which provide criteria for physicians to diagnose a certain type. o Diagnosis of pervasive development disorders is difficult because there is no special test medicine, such as blood tests or imaging tests that can confirm the diagnosis. Some doctors may hesitate to diagnose children with certain types of pervasive developmental disorder. o Diagnosis of this disorder usually require consultation and evaluation by experts in child development disorders, such as child psychiatrists, pediatric neurologist, neuropsychologist or development child psychologist. o The experts evaluate medical laboratory tests, neurological tests, and psychological tests; interview parents and children, and observe and evaluate behavior. Educational skills test, communication assessment and motor skills assessment can be carried out. o Medical tests can be done to push other medical conditions, including electroencephalography, MRI, and blood tests. o When the pervasive development disorder is diagnosed, the diagnosis must be narrowed to one of five


of childhood disintegrative disorder may include: at least two years, and usually up to four years, the normal development including speech, social interactions and relationships, and play and adaptive behavior within a short period (several months), losses in social function, communication and behavioral skills occurs. Without any obvious illness or cause, children experiencing disintegrative disorder become nervous, angry, negative, and disobedient with frequent temper tantrums and outbursts for no apparent reason. These children have lost a complete speech and language, understanding language, and a decrease in thinking (cognitive) skills.

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types, which is achieved by using pre-established criteria of DSM, which outlines the major differences between the types. o For example, for childhood disintegrative disorder confirmed, the symptoms must be preceded by at least two years of normal development and the beginning of the decline and regression must occur before the age of 10.

others) Behavioral therapy Treatment: Conventional Treatment for children with Pervasive Development Disorder is limited. The main treatment is through a structured program of education and very personal. Social skills training and psychotherapy can be helpful. Treatment may also include physical and occupational therapy. There is no specific medication for the PDD. When medications are used it is to target specific symptoms such as agitation, emotional instability, and selfinjury.

Treatment for Pervasive Development Disorder Specifically for PDD treatment will be determined by your doctor based on your child: your child's age, overall health, and medical history the extent of disorder type of disorder Your child's tolerance for specific therapy or medical expectations for the course disorder your opinion or preference Individual treatment plan based on the symptoms of each child and the severity. Multi-disciplinary approach to treatment used to meet the individual needs of each child. Treatment includes: speech therapy occupational therapy social skills training (to help children learn to perform activities of daily living, or ADL, and how to communicate and connect with

Treatment: Alternative Here is a list of some commonly used alternative treatment for PDD. There are many good anecdotes supporting the technique, but they never supported by any solid research. Facilitate communication This is a technique that encourages people with communication disabilities to express themselves. A therapist helps children spell words using

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the keyboard. Children initiates the movement while the therapist provides physical support. Sensory Integration Therapy is directed improving the sensory of the Lovaas Method It was developed by psychologist Ivar Lovaas at UCLA. It is an intensive intervention program for preschool age of autistic children. It uses specific techniques of behavior therapy. Therapy usually consists of 4 to 6 hours a day of one on one of training, 5 to 7 days a week. About half the children involved in this program to make significant progress. Vitamin Therapy There are anecdotal reports that vitamin B6 and magnesium help children with autism. Both of these nutrients involved in the metabolism of serotonin. Therapy towards stimulus children. ervasive-DevelopmentalDisorders.html vasive+developmental+disorder l/pdd.asp w/Page.asp?PageID=STW026935

References l ml avioral-Health-Ob-Sea/PervasiveDevelopmental-Disorders.html

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Autism Spectrum Disorder

Introduction 1. The term autism spectrum describes a range of neurodevelopmental conditions, usually present from early childhood and persisting through life, which are associated with difficulties in social functioning, communication and behaviour. 2. Autism spectrum conditions also include Asperger Syndrome. 3. Most recent reviews estimate a prevalence of one to two cases per 1000 people for autism, and about six per 1000 for Autism Spectrum Disorder, with Autism Spectrum Disorder averaging a 4.3:1 male-tofemale ratio. 4. The number of people known to have autism has increased dramatically since the 1980s, at least partly due to changes in diagnostic practice, the question of whether actual prevalence has increased is unresolved. 5. Autism affects many parts of the brain, how this occurs is poorly understood. 6. Parents usually notice signs in the first two years of their child's life. Early behavioral or cognitive intervention can help children gain self-care, social, and communication skills.

DEFINITION 1. Autism is a pervasive developmental disorder. Its symptoms include differences and disabilities in many areas including social communication skills, fine and gross motor skills, and sometimes intellectual skills. It appears in the first 2 or 3 years of life. 2. The autism spectrum disorders are more common in the pediatric population than are some better known disorders such as diabetes, spinal bifida, or Down syndrome 3. All children with ASD demonstrate deficits in social interaction, verbal and nonverbal communication, and repetitive behaviors or interests. 4. In addition, they will often have unusual responses to sensory experiences, such as certain sounds or the way objects look. 5. Each of these symptoms runs the gamut from mild to severe. They will present in each individual child differently. 6. For instance, a child may have little trouble learning to read but exhibit extremely poor social interaction. Each child will display communication, social, and behavioral patterns that are individual but fit into the overall diagnosis of Autism Spectrum Disorder (ASD).

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Types There are four main sub-types of autism spectrum disorder 1. Autism, also known as autistic disorder, childhood autism, early infantile autism, Kanners syndrome or infantile psychosis. 2. Asperger syndrome, also known as Aspergers disorder or simply Aspergers. 3. Childhood Disintegrative Disorder, also known as CDD, dementia infantalis, disintegrative psychosis or Hellers syndrome. 4. Pervasive Developmental Disorder (Not Otherwise Specified), also known as PDD (NOS) or atypical autism. Autism (Autistic Disorder) 1. Each person with autism is a unique individual, with his or her own strengths and weaknesses. 2. Some people with autism have extremely good memories or are good at paying attention to detail. 3. However most people with autism also find it difficult to talk to other people or to make friends. Some may not even be able to talk at all. 4. People with autism tend to have poor coordination and concentration and they usually have a limited range of interests. And they may do things or say things over and over again. 5. Some people with autism have other disabling conditions, such as a learning disability or epilepsy.

Asperger syndrome 1. People with Asperger syndrome have difficulties with social interactions, social communications and imagination sometimes known as the triad of impairments. They also demonstrate a narrow, repetitive range of activities. 2. However each person with Asperger syndrome is a unique individual, with his or her own strengths and weaknesses. Childhood Disintegrative Disorder 1. It is also known as CDD, dementia infantalis, disintegrative psychosis or Hellers syndrome. 2. Children with CDD appear to develop normally until the age of two. 3. After that they go backwards, losing many of the skills they had before, such as the ability to walk or talk. 4. They also share some of the symptoms of people with autism. For example, they may have difficulty with social interaction, communication, repetitive behaviors or interests. Pervasive Developmental Disorder (Not Otherwise Specified) 1. It is used to describe people who dont fit neatly into one of the specific kinds of Autism Spectrum Disorder, such as Autism or Asperger syndrome 2. Individuals with this condition are more likely to have other conditions such as epilepsy.

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3. There is no cure for this condition but there are some interventions which can help decrease the symptoms. 4. There are also some interventions which can help with related problems, such as anxiety or self harm. Causes Although autism is the result of a neurologic abnormality, the cause of these problems with the nervous system is unknown in most cases. Research findings indicate a strong genetic component. Most likely, environmental, immunologic, and metabolic factors also influence the development of the disorder. 1. There is probably no single gene or genetic defect that is responsible for autism. Researchers suspect that there are a number of different genes that, when combined together, increase the risk of getting autism. 2. In some children, autism is linked to an underlying medical condition. Examples include metabolic disorders (untreated phenylketonuria), congenital infections (rubella, cytomegalovirus ,toxoplasmosis), genetic disorders (fragile X syndrome, tuberous sclerosis), developmental brain abnormalities (microcephaly, macrocephaly, cerebral dysgenesis), and neurologic disorders acquired after birth (lead encephalopathy, bacterial meningitis).

3. Environmental factors and exposures may interact with genetic factors to cause an increased risk of autism in some families. 4. Emotional trauma: Some believed that emotional trauma at an early age, especially bad parenting, was to blame. 5. Vaccines: Although the mercury preservative used in some vaccines is known to be neurotoxic, the most recent research on this subject does not suggest a specific link between vaccines and autism spectrum disorder. Signs and symptoms In both children and adults, the signs and symptoms of the autism spectrum disorders include problems with social skills, speech and language, and restricted activities and interests. Social skills Basic social interaction can be difficult for children with autism spectrum disorders. Symptoms may include: Unusual or inappropriate body language, gestures, and facial expressions Lack of interest in other people or in sharing interests or achievements Unlikely to approach others or to pursue social interaction, comes across as aloof and detached, prefers to be alone.

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Difficulty understanding other peoples feelings, reactions, and nonverbal cues. Resistance to being touched. Difficulty or failure to make friends with children the same age.

Speech and language Problems with speech and language comprehension are a telltale sign of the autism spectrum disorders. Symptoms may include: Delay in learning how to speak (after the age of 2) or doesnt talk at all. Speaking in an abnormal tone of voice, or with an odd rhythm or pitch. Repeating words or phrases over and over without communicative intent. Trouble starting a conversation or keeping it going. Difficulty communicating needs or desires. Doesnt understand simple statements or questions. Taking what is said too literally, missing humor, irony, and sarcasm. Restricted behavior and play Children with autism spectrum disorders are often restricted, rigid, and even obsessive in their behaviors, activities, and interests. Symptoms may include: Repetitive body movements (hand flapping, rocking, spinning); moving constantly.

Obsessive attachment to unusual objects (rubber bands, keys, light switches). Preoccupation with a specific topic of interest, often involving numbers or symbols (maps, license plates, sports statistics). A strong need for sameness, order, and routines (e.g. lines up toys, follows a rigid schedule). Gets upset by change in their routine or environment. Clumsiness, abnormal posture, or odd ways of moving. Fascinated by spinning objects, moving pieces, or parts of toys (e.g. spinning the wheels on a race car, instead of playing with the whole car).

Investigation There is no lab test or X-ray that can confirm the diagnosis of autism. The diagnosis of autism is based on clinical judgment regarding observations of the individual's behavior. Information from family members and other observers is of primary importance in making the diagnosis; however, the pediatrician may order tests to rule out other conditions that might be confused with autism, such as mental retardation, metabolic or genetic diseases, or deafness. A single visit with the pediatrician is not enough to establish the diagnosis of autism spectrum disorder. 1. The pediatrician observes the child and may do a simple screening test

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to see if a developmental problem may be present. Screening tests do not diagnose autism. Done in the office, they are simple tests that indicate a problem may exist. They usually involve simply observing specific behaviors (for very young children) or how a child responds to simple commands or questions (for older children). 2. If the pediatrician believes that further evaluation is necessary, he or she will refer the child to a professional who specializes in developmental disorders. This specialist may be a developmental pediatrician, a child psychiatrist, a pediatric neurologist, or a child psychologist. 3. Other professionals, such as speech and language pathologists, audiologists (specialists in testing hearing), occupational therapists, physical therapists, and social workers, may be involved in the evaluation process. 4. The comprehensive evaluation of a child with autism might include: o obtaining complete medical and family history o physical exam o formal audiology evaluation o selected medical or lab tests on an individual basis (for example, lead levels, genetic tests, metabolic tests, electroencephalogram) o speech, language, and communication assessment

o cognitive and behavioral assessments (focus on social skills and relationships, problem behaviors, motivation and reinforcement, sensory functioning, and selfregulation) o academic assessment (educational functioning, learning style). Medical Management A pediatrician will refer the caregiver and the child to a specialist in developmental disorders for the assessment. Some people may want to have this specialist treat their child's condition, but they are free to seek treatment elsewhere. There is no standard treatment for autism, and different professionals have different philosophies and practices in caring for their patients. You may want to talk to more than one specialist to find the one with whom you feel most comfortable. Ask family members, friends, and the health care practitioner to obtain referrals. Call autism groups or check the Internet for referral services. When seeking a specialist to treat a child's autism, the opportunity should be available to ask questions and discuss the treatments available to the child. Be aware of all the options so that an informed decision can be made. A reputable specialist will present each type of treatment, provide the pros and cons, and make recommendations based

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on published treatment guidelines and his or her own experience. The decision of which treatment to pursue is made with this specialist (with input from other members of the professional care team) and family members, but the decision is ultimately the caregivers'. Be certain to understand exactly what will be done and why, and what can be expected from the choices.

2. 3. 4.


6. 7. ms/f/defautism.htm ications/autism/completeindex.shtml m.ikml ism/page2_em.htm#Autism Causes ism_spectrum.htm#signs ism/page7_em.htm#Autism Treatment

There is no cure for autism, nor is there a standard therapy that works for all people with autism. A number of different treatment approaches have evolved over time as we have learned more about autism. Different approaches work for different people. Accepted interventions may work for some and not for others. Different professionals, each with excellent credentials and experience, may disagree about what is the best approach for the child. Treatment strategies used in autism spectrum disorder include behavioral, educational, biomedical, and complementary therapies. Some of these are supported by scientific studies, while others are not. It is important to discuss and consider the research support for the treatments chosen.

1. /autism_autistic_asperger_spectrum/ autism_introduction

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Attention deficit disorder

(ADD) Definition Attention deficit disorder (ADD) is a biologically based condition causing a persistent pattern of difficulties resulting in one or more of the following behaviours : 1. Inattention 2. Hyperactivity 3. Impulsivity Inattention o Difficulty attending or focusing on a specific task. o May become distracted within a matter of minutes. o Difficulties with staying organized. o Keeping track of time,completing task and making careless error. Hyperactivity o Difficulty inhibiting behaviour. o In constant motion. o May engage in excessive fiddling, leg swinging and squirming in their chair. Impulsivity o Difficulty controlling impulse. o Do not think before act. o Say and do whatever comes into mind without thinking about the consequences. o Might say something inappropriate and regret it later. o Difficulty waiting for their turn in line.

Attention deficit disorder(ADD) is sometimes known as hyperkinetic disorder.

Types There are 6 types of ADD : 1) ADDD(Inattentive ADD or Attention Deficit Daydreaming Disorder) 2) ADOD (Overfocussed ADD or Attention Deficit Overfocussed Disorder) 3) ADAD(Temporal Lobe ADD or Attention Deficit Aggravated Disorder) 4) ADLD(Limbic ADD or Attention Deficit Low or Depressive Disorder) 5) ADAD++(Ring of fire ADD or ATTENTION Deficit Aggravated++ Disorder) 6) Classic ADD ADDD (INATTENTIVE ADD OR ATTENTION DEFICIT DAYDREAMING DISORDER) Poor concentration . Poor tendency to Daydreaming. Present around 50% of females with ADD but less in males. Respond well to the Stimulants Dexamphetamin,Ritalin,antidepress ants-mirtazapine and fluvoxamine.

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ADOD (OVERFOCUSSED ADD OR ATTENTION DEFICIT OVERFOCUSSED DISORDER) Often focuses excessively on one particular activity ,to the neglect of most other things. Feel distressed or irritable whenever they have to give their attention from what they are focussing on. Responds well to stimulant type antidepressants-venlafaxine XR or fluoxetine.

Stimulant typeantidepressants work well-Noradrenalin and dopamine.

ADAD++(RING OF FIRE ADD OR ATTENTION DEFICIT AGGRAVATED++ DISORDER) Extreme sensitivity,irritability,distractibility,a ggravation,rage,aggression and violence due to overactivity in several parts of brain. Patient very distressed. Need immediate treatment with anticonvulsant.

ADAD (TEMPORAL LOBE ADD OR ATTENTION DEFICIT AGGRAVATED DISORDER) Special features include irritability,anger,aggravation,rage and violence. Associated with a malfunction of 1 or both of temporal lobe of brain that causes irritability. Often associated with dj vu(feeling that they have been in places before they really have been there). Unusually poor memory.

CLASSIC ADD Inattentive Distractible Disorganized Perhaps hyperactive Restless Impulsive

Clinical Presentation Clinical presentation of ADD in adults : Fitgetiness and squirming, rarely gross hyperavtivity and often manifest. Impulsivity. Inattention for boring activities.

ADLD (LIMBIC ADD OR ATTENTION DEFICIT LOW OR DEPRESSION DISORDER) Moodliness,pessimism,recurring negative thinking,low energy,low interest and low self esteem.

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Waking slowly and difficulty in the morning unless unusually challenged. Falling asleep with difficulty until overwhelmingly tired. Spatial. Emotional outburstwhich may include child abuse, screaming or hitting others. Bedwetting is uncommon but can be a problem for adults. Unexplained severe and persistent emotional negativity without obvious cause. Clinical presentation children : of ADD in


ADD SYMPTOMS-TREATMENT A child must have conditions at least 6 of the following symptoms for at least 3 months plus to extent that is unusual for their age and level of intelligence. Cannot pay attention to detail or makes careless errors. Cannot finish tasks or continue paying attention in activities or procedure. Cannot concentrate to listen to what is said to them. Fails to follow through instructions or to finish homework. Disorganized about tasks and activities. Avoids tasks like homework that require sustained mental effort or long task. Loses things unnecessary for certain tasks or activities such as pencils, books or toys. Easily distracted from any activities. Forgetful in the course of activities or games. ADD- ALTERNATIVE MEDICINE ADD child must have conditions of at l east 3 of the following symptoms for at least 3 months to an extent that is unusual for their age.

Hyperactivity, fitgetiness or squirming. Impulsitivity(difficulty staying focused on an immediate task). Inattention for unexciting mental activity. Waking slowly especially in young children. Falling asleep slowly with difficult at night. Spatial dyslexia. Episodic explosiveness(emotional outburst). Bedwetting due to primary nocturnal enuresis. Unexplained and unreasonable emotional negativity.

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Runs around, excessively climbs or behave very busy all day long over things they are always busy. Making their own special noise in playing ,or has difficulty in a quiet leisure activities. Leaves seat when classes is in continue of teaching or in other conditions where remaining seated is normal. Always busy with hands or feet or squirms on seat.

MEDICAL HISTORY Difficulties and risks in pregnancy and during birth-if the mother was in poor health or drank alcohol or complicated labour. Several medical conditions such as fragile-X syndrome and fetal alcohol syndrome. Accidents,operation,cronic medical conditions such as epilepsy and asthma. Overdose folic acid during pregnancy.

One of the following symptoms must have persisted at least for 3 months to an extent that is unusual for their age and level of intelligence:

PAST PHYCHIATRIC HISTORY Enquiring any mental health problems can help rule out depression or anxiety behind the symptoms.

Answered or speak before the questions have been completed. Cannot wait for their turns in games or procedure. Talks excessively without correct conditions and situation. Intrudes or likes to jump into others conversation or games before their turn.

EDUCATIONAL HISTORY The level of their ability. How their function within their peer group. Any behaviour difficulties such as suspensions or exclusion.

Causes Diagnosis There is no single diagnosis test for ADD. So,the information below need to be gathered. Medical history Past psychiatric history Educational history ADD has a large genetic component.It caused by a neuro-chemical disconnection between 2 parts of the frontal lobes inside the brain.Then,it affects the central nervous systems development and cause impairment in the ability to concentrate.

Cause of ADD :
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1) 2) 3) 4)


The family not giving any opportunity to process and manipulate environmental stimuli for the children(at an early stage)

ORGANIC BRAIN DAMAGE Medical Management Caused by injury,oxygen deprivation, prenatal complication or infection during birth. Most children with ADD do not show hard signs of brain damage. Damage may only be the case in 10% or less of this population. GENETICS 10% of ADD parents are hyperactive and monozygotic twins. Parents have a higher correlation of them both exhibiting the disorder dizygotic twins. ENVIRONMENTAL FACTORS Artificial colours in various food stuffs. Lead levels in the atmosphere. Environmental pollution. Fluorescent light levels have all been implicated. FAMILY FACTORS Mothers of children with ADD tend to be critical,disapproving,not affectionate and may use severe punishment. Treatment of ADD is not curable. The best treatment for ADD is a combination of : Medication. Behaviour modification strategies. Professional counselling. Drug therapy is an important component of treating ADD. A class of drug called psychostimulants or stimulants have been used to effectively treat ADD for years.

Stimulant drugs to treat ADD include : o o o o o o o o o Adderall and Adderall XR. Concerta. Dexedrine. Focalin and Focalin XR. Metadate CD and Metadate ER. Methylin. Ritalin,Ritalin LA. Vyvanse. Desoxyn.

NOTE THAT: Adderall XR, Concerta, Vyvanse and Focalin XR are FDA-approved for adults. Nonstimulant Drugs.

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In cases where stimulants dont work or cause unpleasant side effects,nonstimulants might help. Types of nonstimulants drugs : o Strattera. o Intuniv. Both medication improve concentration and impulse control.


When stimulant and nonstimulants are not effective or well-tolerated,several other medications are available to treat ADD which are : o Pamelar or other antidepressants. o Catapres or Tenex. o Wellbutrin. o Effexor. tricyclic Thomas E. Brown (2005): Attention Deficit Disorder: The Unfocused Mind in Children and Adults. Yale University Press.


In conclusion, Attention Deficit Disorder provides many blessings as well as the difficulties mentioned. It tends toward creativity and is unique problem solvers. The greatest intervention of all that an authority figure can provide is that of role modelling.For instance, telling the child where and how they plan to channel it constructively. ADD is not a curse, it is a blessing in that it encourages all of us to think about our motivations. Sharing of the self is the most precious gift of all.

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Attention Deficit Hyperactivity Disorder (ADHD)

Definition Attention deficit hyperactivity disorder (ADHD) is one of the most childhood chronic disorders and can continue through adolescent and adulthood. It is categorized as developmentally inappropriate with abnormally high levels of hyperactivity, impulsivity and inattentive. ADHD behaviors are hard to separate from typical childhood behaviors. These symptoms will lead to difficulty in social participation, academic and emotional. After a diagnosis is done, ADHD may be associated with neurological, learning disabilities and significant behavioral. A therapist also may suggests the use of medication, behavioral therapy and modifications in their daily life activities. ADHD once considered an acute disorder has been reconceptualized as a chronic, life-spanning disorder (American Academy of Pediatrics, 2001). Types Of ADHD ADHD has three subtypes. One of them is predominantly inattentive. Children with this subtype are unlikely to act out or have difficulties getting along with other children. They may sit quietly, but they are not focusing to what they are doing. Therefore, the child may be

overlooked, but parents and teachers may not notice that he or she has ADHD. Other types are predominantly hyperactive and impulsive and also combination of the two types stated before. Predominantly hyperactive and impulsive, we can classified it when fewer than six symptoms appear, inattention may still be present in some degree. Most children have combination type of ADHD. Some medical researchers find that 40% to 60% of ADHD children will have symptoms persist into adulthood. Children when they are diagnosed as ADHD, they must be out of the normal range for a child's age and development.

Causes The cause of ADHD has not been fully defined by scientists, though many research considered that genes play a large role, ADHD probably results from a combination factors. One of the causes is genes. Based on some international studies of identical twins and siblings showed that ADHD always occur in families. If one identical twin is diagnosed with ADHD, there is at 92% probability of diagnosis with the twin sibling. When comparing with non-identical twin sibling, the probability falls to 33%. Overall population incidence is 8% to 10% ADHD children who carry a specific type of certain gene, have thinner brain tissue in the areas of the brain related with attention. However, when the children grow up, the

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brain will develop into the normal thickness and their ADHD symptoms will improve. Besides, the cause of ADHD is environmental factor. There is a potential link between cigarette smoking and alcohol or drugs use during pregnancy with ADHD in children. Alcohol and drug abuse will reduce the activity of neurons that produce neurotransmitters. Plus, preschoolers may have a high risk of developing ADHD when they are exposed to high level of leads which can be found in old building or plumbing fixtures. Other than that, sugar is the cause of developing ADHD among children. More research discounts the theory than supports it which state that refined sugar make symptoms worse. In a study, the researchers gave the sugar substitute aspartame, Nutrasweet to the children who were considered by their mother as sugarsensitive. The mothers who thought their children were given sugar found that their children more hyperactive than others. However, the mothers who thought their children were given aspartame found that their children act normally. Although sugar is the popular factor in causing ADHD, there is no reliable proof of this. Furthermore, the food additives also is one of the factor of developing ADHD. Food additives are the substances added to the food to make it more attractive and tasty such as artificial coloring and food preservatives. Based on recent British research, they found that there has a relation between the intake of food additives and the increase in activity.

Brain injuries also related to ADHD, but this has not been conclusively confirmed by the researchers. Children who have a brain injury may show some behaviors similar to ADHD. However, only minority of the children with ADHD suffered a traumatic brain inj Symptoms Of ADHD Key behaviors of ADHD are severe inattention, hyperactive and impulsive in the children. To be confirmed with the disorder, a child must have symptoms for six more months and to a degree that is over than other children of the same age. Children who have symptoms in inattention may:

1. Be easily distracted, forget things, and often switch from one activity to another 2. Difficult to focus on one thing. 3. The child always fails to give attention to details or makes careless mistakes in school works and other activities. 4. Difficult to organize tasks and activities. 5. Easily feel bored only in a few minutes, unless they are doing something enjoyable. 6. Does not seem to listen when spoken directly. 7. Dislikes tasks that require sustained mental effort such as school works. 8. Does not follow through on instruction

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9. Become easily confused, more slowly and daydream. 10. Hard to process data as accurately and quickly as others. Symptoms of hyperactivity. 1. Squirm and fidgets in their seats. 2. Be constantly in motion. 3. Has difficulty in playing quietly. 4. Leaves seat when remaining seated is expected. 5. Often runs and climbs excessively in an inappropriate situation. Children who have symptoms of impulsivity may: 1. Difficult in awaiting turn. 2. Always be in impatient. 3. The child frequently blurts out answers before questions have been completed. 4. Intrudes and interrupts others.

on what they are doing compared to others who tend to have social problems. However, not the only children with symptoms of inattention can be missed out, but adults also may think the children with the impulsive and hyperactive behaviors just have disciplinary and emotional problems. Signs and Tests The American Academy of Pediatrics (AAP) has issued guidelines to diagnose the children who are labeled with ADHD. The diagnosis is based on very specific symptoms: 1. The children should have at least six symptoms of inattention or six of combination of impulsivity and hyperactivity, with some symptoms present before age seven. 2. The symptoms must be present for at least six months. 3. The symptoms must be severe enough to cause significant difficulties in home, school, and in relationships with friends.

The older child should have an evaluation by a doctor if the symptoms of ADHD are present. The evaluation is including: 1. Parent and teacher questionnaires. 2. Psychological evaluation of the child and family including psychological and IQ testing. 3. Complete developmental, mental, physical and psychosocial examination, and nutritional.

ADHD can be mistaken for other problems by parents and teachers. They can miss the fact that the children who have symptoms of inattention have ADHD because they are less likely to act out and quiet. Actually, the children are not focusing

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HOW ADHD IS DIAGNOSED? Normally pediatrician and specialist will determine if a child: 1. Has any infected middle ear that is causing hearing problems? 2. Has any learning disabilities? 3. Has any medical problems related to thinking abilities and behavior? 4. Has anxiety or depression or other psychiatric problems? 5. Has any undetected hearing vision problems? 6. Has been affected by a sudden change like the death of a family member?

4. Specific learning problem such as spelling and reading. 5. A history of specific developmental delay like in language acquisition. 6. Clumsiness and neurodevelopmental immaturities. Treatment/Medical Management There are guidelines produced by American Academy of Pediatrics (AAP), to treat ADHD: 1. Set specific, appropriate target goals for therapy. 2. Use medication therapy. and behavior

Specialists also will ask the parents or teachers to gather the information about the children after have checked school and medical records for clues. 1. Are the behaviors excessive and long term, and do they affect all aspects of childs life? 2. Do they happen often in this child compared with their friends? 3. Are their behaviors a continuous problem or response in a temporary situation? 4. Do the behaviors appear in certain places or only in one place? Common Associated Features Of ADHD 1. Defiant, aggressive, and antisocial behaviors. 2. Problems with social relationships. 3. IQ under 100 in majority of the children.

3. When treatment has not achieved the target goals, reevaluate the diagnosis and how well the treatment plan has been implemented. 4. Always keep in touch with the doctor to check on goals, results, and any side effects of medications. During the assessment, information should be gathered from parents, teachers, and the child. EDUCATION The family and school should explain more about the nature of disorder to the children. Children with ADHD, normally, often come in criticism and little praise. However, it does not the parents or the childrens fault. As parents, they should

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be clear about their childrens unacceptable behaviors. Both, teachers and parents should reduce the chances of child acquiring a behavioral disorder as a key objective of the treatment. All teaching medium must follow up the childs limited attention span because they need special learning unlike the other normal kids. MEDICATION The popular type of medication used for treating ADHD is called a stimulant. For majority of children, ADHD medications reduce hyperactivity and impulsivity and improve their ability to focus, work, and learn besides may improve physical coordination. The age approved for the use of drugs is 3-6 years and older. They also have a calming effect on children with ADHD. The psychostimulants used to treat ADHD are: Amphethainedextroamphetamine (Adderall) Dexmethylphenidate (Focalin) Dextroamphetamine (Dexedrine, Dextrostat) Lisdexamfetamine (Vyvanse)

- Methylphenidate (Ritalin, Concerta, Metadate, Daytrana) - Atomexetine (Straterra) The side effects of the usage of stimulants are decreased appetite, sleep problems, anxiety, and irritability. Some children also report temporary stomachaches or headaches. Most side effects are minor and disappear over time or if the dosage level is lowered. PSYCHOTHERAPY Also known as behavioral therapy, aims to help a child change his behavior. Assists the child in organizing tasks or completing homework, controlling the emotionally difficult event, and help him how to monitor his own behavior. Therapists would teach children social skills, such as how to wait their turn, share toys, ask for help, or respond to teasing. For parents, these are the tips to help your child with ADHD: a. Often communicate with the child's teacher. b. Keep a consistent daily schedule, including regular times for homework, meals, and outdoor activities. c. Make sure the child gets a healthy diet with plenty of fiber and basic nutrients.

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d. Make sure the child gets enough sleep. e. Praise and reward their good behavior. f. Provide clear and consistent rules for the child. DIET Parents must aware with their childs diet. Do not give them too much junk foods, sweets and other creamy or sugarbased product when they are young. If not, their level of hyperactivity will increase. Additives are rarely the only culprits; one or more natural foods, such as milk and wheat products or oranges, are usually involved as well.

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Conduct Disorder (CD)

Definition Conduct disorder (CD) is a behavioral and emotional disorder of childhood and adolescence. Children with conduct disorder act inappropriately, infringe on the rights of others, and violate the behavioral expectations of others. Conduct disorder involves long-term (chronic) behavioral problem. Types There are two types of conduct disorder: Childhood onset Prior to age 10 More likely to be male, few girls develop childhood onset Violent, more severely impaired. Adolescent onset After age 10 More destructive More even gender distribution Less severely impaired

lead to poor parent-child relationships. Dysfunctional family A dysfunctional home environment can be another major contributor to CD. An emotionally, physically or sexually abusive home environment, or parental substance abuse can damage a childs perceptions of himself and put him on a path toward negative behavior. Drug abuse or alcoholism in parents Maternal smoking during pregnancy may be linked to the development of CD in boys. Animal and human studies point out that nicotine can have undesirable effects on babies. Physical abuse Children that physically abuse may causes to CD. Brain damage Other conditions that may cause or co-exist with CD include head injury. When there are serious problems during pregnancy, delivery and the postnatal period. Genetic defects A family history of antisocial personality disorder.

Causes This disease may be caused by the following: Poor parent-child relationship The child maybe in little contact with his/her parent. The parents maybe too busy until neglected their children. A disharmony family may

Clinical Presentation Signs and symptoms A physical examination and blood tests can help rule out medical conditions that are similar to conduct disorder. Conduct disorder is often associated with attention deficit disorder.
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CD also can be an early sign of depression or bipolar disorder.

Children with conduct disorder tend to be impulsive, hard to control and not concerned about the feelings of other people. Symptoms may include: Breaking rules without obvious reason Cruel or aggressive behavior toward people or animals. For example: bullying, fighting, using dangerous weapons, forcing sexual activity and stealing. Failure to attend school (truancybeginning before age 13) Heavy drinking or heavy illicit drug use. Intentionally setting fires Lying to get a favor or avoid things they have to do Running away Vandalizing or destroying property.

Has mood swings Is bullying others or cruel to animals Is being victimized Seems to be overly aggressive

PROGNOSIS Children who have severe of frequent symptoms tend to have the poorest outlook. Follow-up studies of conduct disordered children have shown a high incidence of antisocial personality disorder, affective illnesses and chronic criminal behavior later in life.

Treatment usually begins with a comprehensive evaluation. This will include a detailed medical history and psychological testing. A combination of treatment methods seems more effective than single treatment.

Children who exhibit these behaviors should receive a comprehensive evaluation. Many children with a conduct disorder may have coexisting conditions such as mood disorders, anxiety, PTSD, substance abuse, ADHD, learning problems or thought disorders which can also be treated.

Medical Management Diagnosis Conduct disorder is diagnosed and treated by a number of social workers, school counsellors, psychiatrics and psychologists. Genvine diagnosis may require psychiatric expertise to rule out conditions such as bipolar disorder or ADHD. A comprehensive evaluation of the child should include interviews with

Investigation See your health care provider if your child: Regularly gets in trouble

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the child and parents, a full social and medical history, a cognitive evaluation and a psychiatric exam. One or more clinical inventories or scales may be used to assess the child for conduct disorder.

Individual psychotherapy The youngster with conduct disorder symptoms may be helped in figuring out why he does what he does. As the child grows older, the clinician helps the child better understand his motions and actions and how to deal with both. Medication Lithium, a mood stabilizer, and anticonulsants have also been shown to reduce impulsive aggression.

Treatment Parent management training Many times treatment for conduct disorder is family-focused. When parents can participate fully, this method helps parents to encourage appropriate behaviors in their children. Once the parent child relationship smoothes out, many children are better able to improve their social and academic worlds in a more productive manner. Family therapy Help families learn less defensive ways of communicating with each other. It can foster mutual support and more effective problem solving and conflict resolution within the family. Social skills training This training is to enhance their problem solving abilities. A child can learn to identify problems, recognize causation, appreciate consequences and consider alternate ways of handling difficult situations.

Prevention A supportive, nurturing and structured home environment is believed to be the best defence against conduct disorder. Children with learning disabilities or difficulties in school should get immediate and appropriate academic assistance. Addressing these problems when they first appear helps to prevent the frustration and low self-esteem that may lead to conduct disorder later on.

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References 1. Nurcombe B. Oppositional defiant disorder and conduct disorder. In :Ebert MH, Loosen PT, Nurcombe B, Leckman JF, eds. Current Diagnosis & Treatment Psychiatric 2nd ed. New York: McGraw Hill. 2. Thomas CR. Evidence-based practise for conduct disorder symptoms. J Am Acad Child Adolesc Psychiatric. 2006: 45: 109-114. 3. Whittinger NS. Clinical precursors of adolescent conduct disorder in children with attention-deficit / hyperactivity disorder. J Am Acad Child Adolesc psychiatric. 2007; 46: 179-187. 4. h 5. 6. _disorder 7. disorder

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Learning Disabilities

phonemic awarenessthe ability to break up words into their component sounds, and difficulty with matching letter combinations to specific sounds (sound-symbol correspondence). Writing disorder

sometimes called disorder or learning difficulty

a learning

can also be called Dysphasia/Aphasia include impairments spelling, organization composition. in of handwriting, ideas, and

including several disorders in which a person has difficulty learning in a typical manner usually caused by an unknown factor or factors that affects the brain's ability to receive and process information problematic for a person to learn as quickly A child with a learning disability cannot try harder, pay closer attention, or improve motivation on their own; they need help to learn how to do those things

The term "dysgraphia" is often used as an overarching term for all disorders of written expression. Math disability

Sometimes called dyscalculia can cause difficulties such as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page. Dyscalculics are often referred to as having poor "number sense". Auditory processing disorder

Types of Learning Disabilities Academic Skills Disorders Reading disorder

Of all students with specific learning disabilities, 70%-80% have deficits in reading. The term "Developmental Dyslexia" is often used as a synonym for reading disability; can affect any part of the reading process, including difficulty with accurate or fluent word recognition, or both, word decoding, reading rate, prosody (oral reading with expression), and reading comprehension. used to be known as "word blindness."

Difficulties processing auditory information include difficulty comprehending more than one task at a time and a relatively stronger ability to learn visually. Developmental Speech and Language Disorders Nonverbal learning disability often manifest in motor clumsiness, poor visual-spatial skills, problematic social

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relationships, difficulty with math, and poor organizational skills. often have specific strengths in the verbal domains, including early speech, large vocabulary, early reading and spelling skills, excellent rote-memory and auditory retention, and eloquent self-expression. Developmental Articulation Disorder may have trouble controlling their rate of speech. Or they may lag behind playmates in learning to make speech sounds. For example, Wallace at age 6 still said "wabbit" instead of "rabbit" and "thwim" for "swim." They appear in at least 10 percent of children younger than age 8. Articulation disorders can often be outgrown or successfully treated with speech therapy. Developmental Disorder Receptive Language

In a large proportion of affected children-mostly boys--the attention deficit is accompanied by hyperactivity. These problems are usually hard to miss because of their constant motion and explosive energy, hyperactive children often get into trouble with parents, teachers, and peers. Causes Errors in Fetal Brain Development Throughout pregnancy, the brain development is vulnerable to disruptions. If the disruption occurs early, the fetus may die, or the infant may be born with widespread disabilities and possibly mental retardation. If the disruption occurs later, when the cells are becoming specialized and moving into place, it may leave errors in the cell makeup, location, or connections. Genetic Factors Learning disabilities tend to run in families indicates that there may be a genetic link. Parent who has a writing disorder may have a child with an expressive language disorder. Some learning difficulties may actually stem from the family environment. For example, parents who have expressive language disorders might talk less to their children. In such cases, the child lacks a good model for acquiring language.

Some people have trouble understanding certain aspects of speech. their brains are set to a different frequency and the reception is poor. Their hearing is fine, but they can't make sense of certain sounds, words, or sentences they hear. many people with receptive language disorders also have an expressive language disability. "Other" Learning Disabilities Attention Disorders

Some children and adults who have attention disorders appear to daydream excessively.

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Tobacco, Alcohol, and Other Drug Use A mother's use of cigarettes, alcohol, or other drugs during pregnancy may have damaging effects on the unborn child.

with physical abilities that require handeye coordination, like holding a pencil or buttoning a shirt. Math difficulties and learning disabilities A child with a mathbased learning disorder may struggle with memorization and organization of numbers, operation signs, and number facts (like 5+5=10 or 5x5=25). might also have trouble with counting principles (such as counting by 2s or counting by 5s) or have difficulty telling time. Language difficulties and learning disabilities Signs of a languagebased learning disorder involve problems with verbal language skills, such as the ability to retell a story and the fluency of speech, as well as the ability to understand the meaning of words, parts of speech and direction. Reading difficulties and learning disabilities Reading comprehension problems occur when there is an inability to grasp the meaning of words, phrases, and paragraphs. Signs of reading difficulty include problems with: letter and word recognition understanding words and ideas reading speed and fluency general vocabulary skills Writing difficulties disabilities and learning

Alcohol also may be dangerous to the fetus' developing brain. It appears that alcohol may distort the developing neurons. Heavy alcohol use during pregnancy has been linked to fetal alcohol syndrome, a condition that can lead to low birth weigh, intellectual impairment, hyperactivity, and certain physical defects. Any alcohol use during pregnancy may influence the child's development Drugs such as cocaine, especially in its smokable form known as crack, seem to affect the normal development of brain receptors. Problems During Pregnancy or Delivery Involve pregnancy. complications during

This type of disruption seems to cause newly formed brain cells to settle in the wrong part of the brain. Or during delivery, the umbilical cord may become twisted and temporarily cut off oxygen to the fetus. Clinical Investigation The symptoms and signs of a learning disabilities Motor difficulties and learning disabilities

Signs that the child might have a motor coordination disability include problems
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Symptoms of a written language learning disability revolve around the act of writing and include. They include problems with: neatness and consistency of writing accurately copying letters and words spelling consistency writing organization and coherence Auditory Processing Disorder Problems with reading, comprehension, language Visual Processing Disorder


The first step in diagnosing a learning disability is ruling out vision or hearing problems. A person may then work with a psychologist or learning specialist who will use specific tests to help diagnose the disability. Often, these can help pinpoint that person's learning strengths and weaknesses in addition to revealing a particular learning disability. Specialists trained to do psychological testing and result interpretation Clinical psychologist School psychologist Educational psychologist Developmental psychologist Neuropsychologist Psychometrist

Problems with reading, math, maps, charts, symbols, pictures Other characteristics that may be present

Performs differently from day to day Responds inappropriately in many instances Distractible, restless, impulsive Says one thing, means another Difficult to discipline Doesnt adjust well to change Difficulty listening and remembering Difficulty telling time and knowing right from left Difficulty sounding out words Reverses letters Places letters in incorrect sequence Difficulty understanding words or concepts Delayed speech development; immature speech

Occupational therapist (tests sensory disorders that can lead to learning problems) Speech and language therapist

Diagnosis IQ-Achievement Discrepancy often identified by school psychologists, clinical psychologists, and neuropsychologists through a combination of intelligence testing, academic achievement testing, classroom performance, and social interaction and aptitude.

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Other areas of assessment may include perception, cognition, memory, attention, and language abilities. is used to determine whether a child's academic performance is commensurate with his or her cognitive ability. If a child's cognitive ability is much higher than his or her academic performance, the student is often diagnosed with a learning disability. Response to Intervention (RTI) a treatment-oriented diagnostic process known as response to intervention (RTI). Their performance can be closely monitored to determine whether increasingly intense intervention results in adequate progress. Those who respond will not require further intervention. Those who do not respond adequately to regular classroom instruction are considered "nonresponders." The process does not take into account children's individual neuropsychological factors such as phonological awareness and memory, that can help design instruction. RTI by design takes considerably longer than established techniques, often many months to find an appropriate tier of intervention.

it requires a strong intervention program before students can be identified with a learning disability. RTI is considered a regular education initiative and is not driven by psychologists, reading specialists, or special educators. Assessment The most commonly used comprehensive achievement tests include o the Woodcock-Johnson III (WJ III), o Weschler Individual Achievement Test II (WIAT II) o the Wide Range Achievement Test III (WRAT III) o the Stanford Achievement Test10th edition Assessments that measure multiple domains of reading include o Gray's Diagnostic Reading Tests2nd edition (GDRT II) o the Stanford Assessment. Diagnostic Reading

Assessments that measure reading sub skills include the Gray Oral Reading Test IV Fourth Edition (GORT IV) Gray Silent Reading Test, Comprehensive Test Processing (CTOPP) of Phonological

Tests of Oral Reading and Comprehension Skills (TORCS)

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Test of Reading Comprehension 3 (TORC3) Test of Word Reading Efficiency (TOWRE) the Test of Reading Fluency The purpose of assessment is to determine what is needed for intervention, which also requires consideration of contextual variables and whether there are comorbid disorders that must also be identified and treated, such as behavioural issues or language delays.

Sugar-free diets Body stimulation or manipulation 3) Special equipment

Word processors with spell checkers and dictionaries Text-to-speech and speech-to-text programs Talking calculators Books on tape 4) Special Education Prescribed hours in a resource room Placement in a resource room Enrollment in a special school for learning disabled students Individual Education Plan (IEP) Educational therapy 5) Meet an Occupational therapy

Medical Management 1) Ritalin (methylphenidate), Dexedrine (dextroamphetamine), and Cylert (pemoline)

stimulants in the same category as "speed" and "diet pills," they seldom make children "high" or jitterier. temporarily improve children's attention and ability to focus help children control their impulsiveness and other hyperactive behaviors. Shortly after taking the medication, they become more able to focus their attention. They become more ready to learn. effective for 3 to 4 hours and move out of the body within 12 hours. 2) Types of therapy that have not proven effective in treating the majority of children with learning disabilities or attention disorders:

Conclusion Prognosis of learning disabilities

Learning disabilities conditions.




In some people, several overlapping learning disabilities may be apparent. Other people may have a single, isolated learning problem that has little impact on their lives.


Megavitamins Coloured lenses Special diets ility/article.htm#tocb isabilities.htm

155 Pediatric conditions Hand notes erstanding/symptoms.asp lity Lerner, Janet W. (2000). Learning disabilities: theories, diagnosis, and teaching strategies. Boston: Houghton Mifflin. ISBN 0395961149. Aaron, P.G. (1995). "Differential Diagnosis of Reading Disabilities.". School Psychology Review24 (3): 34560. ISSN 0279-6015. Patti L. Harrison; Flanagan, Dawn P. (2005). Contemporary intellectual assessment: theories, tests, and issues. New York: Guilford Press. ISBN 1-59385-125-1. Marcia A. Barnes; Fletcher, Jack; Fuchs, Lynn (2007). Learning Disabilities: From Identification to Intervention. New York: The Guilford Press. ISBN 1-59385-370-X. Finn, C.E., Rotherham A.J. & Hokanson C.R. (2001). Rethinking Special Education For A New Century. Progressive Policy Institute s/learning/learning_disabilities.html 1 Attached files|88KB

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DEFINITION Partially or completely lacking in the sense of hearing or loss the ability to detect certain frequencies of sound. Deafness can occur in only one ear or both ears. There are three primary types of hearing loss: Conductive hearing losshearing loss caused by the inability of the sound to reach the inner ear. This can result from outer or middle ear problems such as ear infection, excess wax or swelling. This type of hearing loss is most likely to respond to medical or surgical treatment. Sensorineural hearing losshearing loss caused by disorders of the inner ear or auditory nerve. This type of loss is usually permanent. It can be caused by hereditary or congenital problems, excess noise, old age, medications, infections, such as ear infections and meningitis or from tumors compressing the nerve of

hearing such as an acoustic neuroma. Mixed hearing loss- hearing losses that are a combination of both conductive and sensorineural loss.

LEVEL OF HEARING LOSS Mild deafness: 20-40 db Moderate deafness: 41-70 db Severe deafness: 71-95 db Profound deafness: 95 db PREVELANCE Hearing loss occurs in approximately 1/2000 in live births. Children who have hearing loss with addition disability occur in approximately 30/100.

CAUSES OF DEAFNESS Genetic causes- may or may not be part of a recognized genetic syndrome such as Turners syndrome and Klinefelters syndrome. Intrauterine- congenital infections such as rubella, toxoplasmosis and maternal drugs such as alcohol, cocaine and streptomycin and also ototoxic drugs (medications that damage ears) such as aspirin, quinine and antibiotics. Prenatal causes- prematurity or low birth weight, low Apgar scores, birth

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asphyxia, severe hyperbilirubinaemia, and sepsis. Postnatal causesassisted ventilation, severe jaundice, mumps and childhood infections such as meningitis, encephalitis, head injury, syphilis and otitis media. Unknown causes- no definite unknown aetiology. Nose or throat problems- nasal allergies, sinus problems and blockage of the eustachian tube. Ear disorders- otosclerosis and menieres disease. Tumorsear and brain (hydrocephalus). Neurological disorder- multiple sclerosis and stroke. Hypothyrodism (underactive thyroid).

SIGN AND SYMPTOM Symptoms of deafness in infants: 1-4 months- lack of response to sounds or voices. 4-8 months- disinterest in musical toys and lack of verbalization such as babbling, cooing and aking sounds. 8-12 months- lack of recognition of childs own name. 12-16 months- lack of speech. Signs of deafness in child or infants:

dont respond to things said to them, or dont seem to notice that you have spoken to them. ask you to repeat things (more for older children than infants). need to search right and left to find the voice or sound. start talking later than children the same age. cant say words and sentences the right way. have difficulty hearing one voice when several people are talking. miss quick or soft sounds. are performing poorly at school. Common behaviour in children with hearing loss: Sad - because they dont understand why people shout at them Angry and frustrated - at not being able to hear or communicate Shy - particularly around people they dont know, because they cant understand everything they say. Quiet and withdrawn at school - if they cant hear the teacher well or follow instructions Exhaustion - hearing takes a lot of energy. Children with a hearing loss are often

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exhausted by the end of the day. Misbehaved - a behavioural problem can sometimes mask a hearing loss in children. Often behavioural problems result from frustration at not hearing correctly.

Condition play audiometry Similar to behaviour testing This test is given for children ages two and half a year to five years. A more complete frequencyspecific hearing test can be obtained from this method. Pure-tone audiometry This is a standard hearing test. This test determines the lowest tone at which a child can hear a specific tine at a specific frequency. For older children, speech can also be tested by presenting words as opposed to tones. Speech testing can give an accurate assessmentof the ability to wear hearing aids. Auditory Brainstem Response Testing (ABR,BSER,BAER) Auditory sound or stimulus from a probe placed in the ear to stimulate the hearing system is used. The response of this sound is measured by surface electrodes placed on the head. No responses are required from the child to measure these responses.

INVESTIGATION DIAGNOSIS: The diagnosis of pediatric hearing loss requires careful history, family history and physical examination. Accurate assessment of the degree of hearing loss is essential to develop the appropriate treatment plan. Testing hearing in a young child with hearing loss can be difficult and require experience and significant expertise. There are multiple ways depending on the childs age and severity of hearing loss that hearing can be tested. Behaviour testing This test is given from birth to 6 months of age. The child behaviour is monitored during the test and compared to normal hearing children as younger children cannot give the specific responses required in puretone audiometry. This test requires experience and skill from the tester.

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Evoked Otocoustic Emissions (EOAEs) OAE are sounds that are produced in the cochlea and measured with via probe in the ear canal. No responses are required from the child to measure this sounds. Other tests depending on symptoms, family history, associated other medical problems and physical examination may be obtained. These include the following: - MRI scan- uses magnetic waves to make pictures of the inside of the head. - CT scan of the temporal bone- a type of x-ray that uses a computer to makepictures of the head. - Urinalysis- urinalysis can reveal diseases that have gone unnoticed because they do not produce striking signs or symptoms. Examples include various forms of glomerulonephritis and diabetes mellitus. - Thyroid testing- blood test used to evaluate how effectively the thyroid glandis working - Electrocardiography (EKG)- an instrument used in the detection and

diagnosis of heart abnormalities that measures electrical potentials on the body surface and generates a record of the electrical currents associated with heart muscles activity. Complete blood cell count. Other blood work. Genetic testing.

Genetic Testing A relatively new diagnostic tool to diagnose paediatric hearing loss is via molecular genetics or genetic testing. This type of testing involves obtaining blood from a hearing impaired child and performing a chromosomal analysis. The chromosomal defect leading to the hearing loss can be identified. This test used for both diagnostic and research purposes.

MEDICAL MANAGEMENT Family support, advice and information. Hearing aids: the early use of hearing aids (before 6 months of life) has a better outcome, in term of speech and language development. Pre-school education support.

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Special school education need assessment and provision. Cochlear implants: cochlear implants in both ears are recommended for children with severe to profound deafness only if they do not get enough benefit from hearing aids after trying them for 3 months. Other devices such as radio aids (the teacher wears a transmitter and the child with hearing loss wears a receiver). Communication support (spoken or signed) including: Auditory-oral approaches maintain that many deaf children can develop their listening skills and a spoken language. These approaches emphasise the use of hearing aids, radio aids and cochlear implants to maximize the hearing a deaf child may have. Lip reading and speech reading. Sign bilingualism describes an approach that encourages the learning and using of two languages at the same time: a sign language and written/spoken language. Finger spelling: each letter of the alphabet is indicated by using the fingers and palm of the hand. It is used for spelling names, places or forwords that dont have a sign. Vibrotactile devices.

Speech therapy.

PREVENTION Rubella immunisation programmes aiming at eradication. Early diagnosis and treatment of potential causes (meningitis). Cautious prescribing of medications for pregnant and possibly pregnant women as well as children.

REFERENCES ng_hearing_loss_in_children/article. htm acts/children.html dhood-Deafness.htm wilkerson/27938 Pediatric Audiotology: diagnosis, technology and management by Jene Reger Madell and Carol Flexer.

Visual Receptive Deficit


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The visual receptive component is the process of extracting and organizing information from the environment (solah&Linear 1986) It means that the visual receptive component is the process of pulling out and arrange the input that gain from the environment. Visual receptive is one of the visual perceptive components. Another component for visual perception which related to visual receptive component is visual cognitive component. Visual receptive cognitive component is the ability to interpret and use what is seen. Visual receptive component include fixation,pursuit and saccadic eye movements,acuity.accomondation,bi nocular vision and stereopsis convergence and divergence.

The importance of good vision for classroom work cannot be emphasized enough. More than 50% of a students time is spend working at near point visual task such as reading and writing. Another 20% is spent on task that require the student to shift focus from distance to near and near to distance such as copying from the board. More than 70% of the day, tremendons stress is being put on the visual system(Ritty,Solah&Cool 1992) Many student with low vision dysfunctions can have difficulty meeting the behavioral demands of sitting still, sustaining attention and completing their work . One type of visual receptive deficit is REFRACTIVE ERROR.

Binocular Dysfunction
Definition The visual receptive deficit means disability to pull out and translate the information that gain from the environment and surrounding. Children with visual receptive deficit is unable to recognize and identify of shape,object,colour and other quantities. They are also always related with low vision,blindess and any other visual problem Type Of Visual Receptive Deficit When the conditions motor fusion and the sensory have meet for binocular fusion to occur, the single Experiences blurred vision at distance and near, with the degree of loss of clarity depending on the amount of astigmatism. Astigmatism Astigmatism is type of refractive error of eye and is the common reason why a person goes to see an eye professional.

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binocular vision is at the best difficult and at worst impossible. One eye overtly turn in, out, up, or down because of muscular imbalance, the condition is known as strabismus or we called as wandering eye. Another type of binocular dysfunction is phoria. Phoria refers to a tendency for one eye to go slightly in,out,up and down but with the absence of over misalignment of two eyes.

Causes of Visual Receptive Deficit There are several causes that lead to the visual receptive deficit:Disruption/dysfunction of oculomotor control. Visual field deficit. Visual acuity deficit



Blindness is those people who is unable to see or loss of vision. This problem is due to the damage in the region of the left or right occipital cortex. Occipital cortex play an important role for vision. It processing visual information that receives from the environment.

Nearsightedness& Farsightedness
The child who is nearsighted has blurred distance vision but generally experiences clarity at near point. The child who is farsighted frequently has clear distant and near vision but has to exert extra effort to maintain clear vision at near point.

Oculamotor system makes possible the reception of visual stimuli(visual receptive). The purpose of occulamotor function is to achieve and maintain foveation of an object. Occulomotor disruption occur when the six muscles around each eyes which work together in an extremely arrange manner in order to accurately controls eye movement are not properly coordinated The causes of occulomotor dysfunction range from slow development to disease of the central nervous system. VISUAL FIELD DEFICIT Visual field is the external world that can be seen when a person looks straight ahead. Damage to the receptor cell in the retina or to the optic pathway that relays retinal information to the central nervous system(CNS) for

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processing result in a visual field deficit. The location and the extent of the visual field deficit depends on where damage occurs on the pathway. The example of case involving the visual field deficit is blindness or loss of vision.

VISUAL ACUITY DEFICIT Visual acuity is the ability to see small visual detail. Acuity contributes to the capability of the CNS to recognize object. Acuity is also said as keenness or sharpness and with regard to vision, acuity ensures that clear and precise visual information is provided to the CNS for processing. Most of the deficiencies in visual acuity are caused by the deficit in the optical system (the cornea or lense) or even the length of the eyeball. This is causes the image to be focused poorly on the retina. The example of case regarding the visual acuity deficit is nearsightedness, farsightedness and astigmatism CLINICAL PRESENTATION There are a few of sign and symptom that shows for every causes of visual receptive deficit.

Children with oculomotor system dysfunction always has a fatigue, eye pain, or headache after a period of sustained viewing in near task such as reading. The children also may have difficulties concentrating and maintaining attention in school work, an activity such as drawing, colouring, cutting and puzzling.

VISUAL FIELD DEFICIT Children with visual field deficit is having difficulty of seeing. In early stage, the children have difficulty recognizing object at a distance (street sign or bus sign). The children also may have difficulty in differentiating colours particularly in the green blue-violet range. The children may also difficult seeing well up close for example is reading. VISUAL ACUITY DEFICIT Children with visual acuity deficit result in an inability to discriminate small details and to distinguish contrast and colour. Activities dependent on reading,writing,and fine motor coordinate(e.g: reading the book,dialing a telefon,identifying money and brush the teeth. The children may be unable to identify landmarks, see obstacle in the path of walking, or accurately detect motion which may impair his or her ability to ambulate safely and



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maintain orientation in the environment. This may reduce the independence level of the children. Investigation There are some diagnoses that can be done to detect the visual receptive deficit among the children. Interview with the family regarding significant visual history helps identify any conditions that may be associated with visual limitations. Interview with the teacher to know the level of the children during learning activities at school. Perimetry,confrontati on and careful observation of the child as he or she performs daily activities give useful information regarding field integrity in measuring visual field. A head scan may help to confirm where and what kind of damage has happened to the visual part of the brain. Some school and clinics use a telebinocular or other similar instrument in vision screen.This provide information on clarity or visual acuity at both near and far distance, as well as information on depth perception and binocularity.

There are some treatments that can be done to overcome the problem that involve in visual receptive deficit: Some children have surgery to correct an eye turn. Although this intervention can correct the eye cosmetically, it does not always result in binocular vision. Encourage the children to use the spectacles, contact lenses or low vision aid(LVA).This will help the children see more clearly and ensure the vision part of the brain grow and develop correctly. Problem at the school may be reduce expecially in reading by increase the size of print and word space out. Home visiting teachers, physiotherapist and occupational and speech therapy may all add to the childs cares and education. It is important to continue the programme that they recommend. When reading, it can be helpful to read line at time through a letter box placed over the page. Placing a piece of blue tack below the line they are reading at the beginning of the next sentence can help some children find their way back to the start of the next line more quickly. Prognosis The children who is undergo the treatment shows a positive feedback which they shows the improvement in their level of life regarding the visual receptive problem. Some of the treatment are very suitable with the patient. However not everyone is lucky

Medical Management

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enough to be healthy as it was. Some treatment maybe not suitable with the children or the children cannot be cured because it has a severe problem. The treatment such as surgery procedure is not guaranted enough to solve the problem involving Blindness. But another treatment such as using a spectacle may help the children who has a low vision problem.

Visual reception components are: -visual fixation -pursuit -saccadic eye movement -acuity -accommodation -binocular fusion and stereopsis


-convergence and divergence

-Visual fixation: is the prerequisite skill for other oculomotor.For example shifting the gaze between object.

Visual Perceptive

-Pursuit: is continued fixation on the moving object so the object is maintained in the fovea(the most centre part of the macula in the eye) -Saccadic eye movement:

Visual perception is the ability to interpret information and surrounding from the effect of visible light entering the eye

is defined as rapid change of fixation from one point to another.For example during reading. -Acuity:

Visual reception component is the process of extracting and organizing information From the surrounding.

is the capacity of each eye to differentiate the fine of object in the visual field. -Accommodation:

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The ability of each eye to compensate for blurred vision which a process used to obtain clear vision. -Binocular fusion: The ability mentally to combine the image from two eyes into single perception.There are two types of prerequisite skills which are motor fusion and sensory fusion. -Stereopsis: Binocular depth perception dimensional vision. -Convergence and divergence The ability of both eyes to turn inward toward the medial plane and outward from the medial plan. Visual cognitive component provide the ability to interpret and use what is seen Visual cognitive component are: -visual attention -visual memory -visual discrimination -visual imagery or three

There are 4 component of visual attention 1.alertnessis the transition from an awake to the attentive and ready state needed for active learning and adaptive behaviour.

2.selective attentionis the ability to choose relevant information and ignoring irrelevant information. vigilanceis conscious mental effort to concentrate and persist at a visual task.

4.shared attentionis when two or more simultaneous tasks are given and the abiliy to respond to it.

-visual memory: It involves the integration of visual information with previous experiences.

-visual discrimination: The ability to detect features of stimuli for recognition, matching and categorization. *Recognition is the ability to note key feature of a stimuli and relate them to the memory.

-visual attention: Its involves the selection of visual input and provide an appropriate time frame through which visual information is passed by the eyes to the brain to be interpret.

*Matching is the ability to note the similarities among visual stimuli.

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*Categorization is the ability to determine quality and category by which similarities and differences can be detected.

Object vision Is implicated in the visual identification of objects by colour,texture,shape and size.Obvision are divided into three which are form constancy,visual closure and figure-ground.

1.Position in space is the determination of the spatial relationship of figures and objects to oneself or other forms and objects. This provides the awareness of an object's position in relation to the observe. This perceptual ability is important to differentiate among letters and sequences of letters in a word.

1.Form constancy is the recognition of forms and objects as the sane in the various environment,positions and sizes.It help a person develop stability and consistency in the visual world.

2.Depth perception is the determination of the distance between objects,figures or landmarks and the observer and changes in planes of surfaces. It help people to move in spaces. 3.topographic orientation is the determination of the location of objects and the settings and the route to the location. -Visual imagery

2.Visual closure is the identification of forms or objects from incomplete figure.Enables a person to quickly recognize the object,shapes and form by matching it to previous memory that stored.

The ability to picture people,ideas and ojects in the minds eye even mhen the object are not physically present.

3.Figure-ground is the ability to differentiate between foreground or background forms and objects. It is the ability to separate essential data from distracting environment. Spatial vision provides information about the location of object qualities that needed to guide action. There are three aspect of spatial vision that are position in space, depth perception and topographic orientation.

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VISUAL PERCEPTIVE DEFICITS TYPE 1.Blindness 2.Low vision CAUSES 1.Macular degeneration 2.Diatetic retinopathy 3.Glaucoma 4.Hypertension 5.Choroiditis 6.Retinitis pigmentosa CLINICAL PRESENTATION

11.Hold pencil tightly. 12.Struggles to cut or paste 13.Letters colliding, irregular pacing, letters not in on line.


To detect the perception deficit is through a few test perform by thre ophthalmologist. The tests are

1.Visual acuity test:a person needs an eye chart measure how well the person sees at various distances. For example by using snell chart 2.Visual field tesr:ophthalmologist use this test to measure side or peripheral vision. 3.Tonometry test:This test determine the fluid pressure inside the eye to evaluate for glaucoma.

1.May have reversal b for d, p for q or inversion u for n, w for m. 2.Has difficulty negotiating. 3.Complaints eyes hurt and itch. 4.Always rubbing eyes. 5.Complaints print blurs while reading 6.Turns head when reading a cross page 7.Hold paper at odd angle. 8.Can not copy correctly 9.Loses place frequently. 10.Does not recognize an object or word when only part of it is not shown.


1.Treatment for glaucoma involves the application of eyes drop or oral administration of medication to decrease the pressure in the eyes.

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2.Laser treatment for glucoma to reduce the fluid pressure in the eye.

Visual perception deficit in head injury


3.Early phases of cataract, treatment may only involves prescription glasses and magnifies. 4. In progress cataract, surgery is the only option fir the patient. 5.Laser procedure and surgical treatment are used to reduced the effect of diabetic retinopathy on the retina of the eye.

-Is any trauma that leads to injury of the scalp, skull or the brain.

-After the brain injury,visual changes may occur.These changes can vary from mild to severe impairment depending on the type and the location of the injury.The ability to perform daily activities can be affected in various ways. -Types changes may be in 1. Ocularmotor control 2. Visual acuity 3. Visual attention 4. Visual perception 1. Oculamotor control difficulties result in problem coordinating eye muscle. For examples Difficulty in tracking object movement in space with the eye Problem with scanning Difficulty with reading Double vision (a condition where two images are form a single object either some or all

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of the time.The two images may be one on top of the other, side by side or a mix of both) 2. Visual acuity is simply how clearly you see,whether it is near vision as needed for Reading and far distant for driving.Any changes included Needed for corrective lenses. Altered contrast sensitivity(seeing object distinct from the background environment for example seeing white sock on white carpet). 3.Visual attention is the ability to focus on object and environment to note specific Characteristic and know their relationship to each other. 4.Visual perception is the ability the brain to interpret information. After the brain injury visual perception can be altered in several ways Visual field deficits-lose of vision in a part of one sides of the body. Reduced visual attention-limited focus sometimes on one side of the body Impaired spatial relation-decreased ability to see object s in relations to their environment or other object. For example eating only from one side of the plate. Problem in reading Problem in the financial management

Difficulty with functional mobility tasks and navigating around environmental Obstacles.


-Jane Case Smith fifth edition:occupational therapy for children - vision/Pages/Introduction.aspx lindness/causes.

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Deaf and Blind

Introduction In the subject Pediatric Condition, there are many chapters we will learn. One of the chapters is Children with Sensory Deficits. In this chapter, I have do an assignment about deaf and blind. In this children problem, we can define what definition of deaf is and definition of blind. In this assignment, I also put the type of deaf and blind and what are the causes that lead to deaf and blind. Besides that, we can know the clinical presentation of deaf and blind. Furthermore, we can define what the investigation for deaf and blind is. We also can define what the suitable medical management for deaf and blind are. Deaf is hearing impairment or the condition where in ability to defect certain frequencies of sound. Blind is the condition of lacking visual perception. Deaf and blind may result from genetic or disease. There are much type of deaf and blind such as conductive hearing loss and colour blindness. This type of disorder can be detect by doing some test and can be treated by using hearing aids or do surgery.

Deafness can occur in one or both ears. Definition Of Blind The condition of lacking visual perception due to physiological factors. Conditions that prevent an individual from receive sound in any forms. Can affect individuals of any age and may occur at any time from infancy through old age.

Type of Deaf Conductive Hearing Loss- part in the outer ear and/or middle ear dont work properly. It is caused by head injury, ear infection, birth defects and disease such as otosclerosis. Sensorineural Hearing Lossresults from damage to the delicate sensory hair cells of the inner ear or the nerves which supply it. It is causes by normal ageing proses, too much loud noise, genetic, head injury and certain medications. A Mixed Hearing Loss- refers to a combination of conductive and sensorineural loss and means that a problem occurs in both the outer or middle and the inner ear. A Central Hearing Loss- results from damage or impairment to the nerves or nuclei of the central nervous system, either in the pathways to the brain or in the brain itself.

Definition Of Deaf Deaf is partially or completely lacking in the sense of hearing. Unable to receive sound. Hard to hearing.

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Neural Hearing Loss- hearing nerve doesnt work properly causes by genetic, head injury and tumour.

Type Of Blind Colour blindness- the decreased ability to perceive differences between some of colour that other can distinguish. It is more often of genetic and may also occur because of brain damage or exposure to certain chemical. Blind sight- is phenomenon in which people are perceptually blind in a certain area of their visual field demonstrate some response to visual stimuli. Monocular blindness- is the visual loss that affects only one eye. This condition is common and could last from a few minute to a few hours. Night blindness- is a decreased ability to see at night. Problems seeing in any dark or dim lighting.

Causes Of Deaf Age- old age have higher percentage to loss sense of hearing than children. The ability to hear decrease with increasing of age. Long-term Exposure to Environmental Noise- People who lives near airports or freeways is exposed to levels of noise. Common sources of damaging noise levels include car stereos and transportation. If one is exposed to

loud sound at high levels, then hearing impairment will occur. Genetic- If a family has a dominant gene for deafness it will persist across generations because it will manifest itself in the offspring even if it is inherited from only one parent Disease or illness Measles may result in auditory nerve damage Mumps may result in profound sensorineural hearing loss HIV may directly affect the cochlea and central auditory system. Chlamydia may cause hearing loss in new-born to whom the disease has been passed at birth. Syphilis is commonly transmitted from pregnant women to their fetuses, and about a third of the infected children will eventually become deaf. Otosclerosis is a hardening of the stapes in the middle ear and causes conductive hearing loss. Medication-Some medications cause irreversible damage to the ear, and are limited in their use for this reason. This includes some diuretics, aspirin and NSAIDs, and macrolide antibiotics. Exposure to Ototoxic ChemicalHearing loss can also result from specific drug. Ototoxic chemicals

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have an additive effect on a persons hearing loss. Fatal alcohol syndrome is reported to cause hearing loss of infants born to alcoholic mother. Physical trauma- People who had head injury are especially vulnerable to hearing loss or tinnitus, either temporary or permanent. There can be damage either to the ear itself or to the brain centers that process the aural information conveyed by the ears.

retardation, autism spectrum disorder, cerebral palsy, hearing impairment, and epilepsy.

Clinical Presentation Of Deaf

Clinical sign; Doesnt react when called Appears inattentive or prone to daydreaming Listens to the TV at high volume Balance problems Language impairment Talk too loudly Mispronounces words Behind in development motor skill and coordination Is often tired, grump, frustrated or over-active

Causes Of Blind Geneticeyes disease that transmission from parent by genes. Cataract- clouding of the lens of the eyes which impedes the passage of light. Glaucoma- an eyes disorder in which the optic nerve suffer damage. Corneal opacities- inflammatory eyes disease that cause scarring of the cornea. Trachoma- is a bacterial infection of the eyes. Infection spreads from person to person. Accident- blind can occur if something hurt the eyes. Optic nerve (atrophy)-affect the nerve bundle that send signal from the eyes to the back of the brain. Childhood blindness can be caused by conditions related to pregnancy, such as congenital rubella syndrome and retinopathy of prematurity. Blindness also can occur in combination with such condition as mental

Clinical symptom in infants; 1-4 months : lack of response to sound or voices. 4-8 months : disinterest in musical toy. : Lack of verbalization such as babbling 8-12 months : lack of recognition of childs own name 12-16 months: lack of speech

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Clinical Presentation Of Blind Clinical symptom; Impaired vision Language impairment Poor vision Denial of colour issues Test FULL HEARING EVALUATION TEST Age Diagnostic Auditory Under 6 Brainstem Response months Visual Reinforcement 6 months to Audiometry (VRA) 2 years Conditioned Play 2 years to 4 Audiometry (CPA) years Tympanometry Any age

Clinical sign; Eyes dont line up, one eye appears Crossed or looks out Eyelids are red-rimmed, crusted or swollen Eyes are watery Child rubs eyes a lot Blinks more than usual Has trouble reading Things are blurry or hard to see

Investigation Of Blind Ishihara plates-the test consist of a colour red plates which contains a circle of dots appearing randomized in colour size. Night vision threshold test (NVTT)is an example of a colour perception test.

Investigation Of Deaf SCANNING TEST Otoacoustic Emissions Test (OAE) the machine send sound to the inner ear Automated Auditory Brainstem Response (AABR) A small device that makes special sound is placed in baby ear. A machine measure the hearing nerves response to the sound.

Physical examination Blood pressure- high blood pressure increase risk of hypertensive retinopathy, stroke and central retinal vein thrombosis. Visual acuity- reflects the integrity of the central field Examination of pupils Ophthalmoscopy and slit lamp examination-to examine the optic nerve.

If the children fails one of the skinning test, they should do full hearing evaluation test

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Medical Management of Deaf A child with a hearing loss may prefer to stay away from noisy places, such as rock concerts, Football games, and airports, as this can cause noise overflow. Controlling noise and using hearing protectors are insufficiency for preventing hearing loss from these chemical. Myringotomy Psychotherapy Tumpanoplasty tube placement Cochlear implants For children with a severe to profound sensorineural hearing loss, who receive little from hearing aids. Bone conduction implants For children with conductive hearing loss, mixed hearing loss or sided deafness. Hearing aids For children with a mild-to-moderate sensorineural hearing loss. MEDICAL MANAGEMENT OF BLIND

Colour vision test Cataract surgery-removal of the natural lens of the eyes. Laser surgery-is the surgery using a laser to cut tissue instance of a scalpel. Use drug- example: Prednisone, Timoptic, Xalatan References causes/tp/topcauses.htm act/type.html c/a/typesoftloss.htm act/children.html dren/trouble-signs.html

Contact lenses- used after surgery for bilateral or unilateral cataracts in children under two years of age. Glasses- used in selected cases when the cataract surgery involves both eyes and contact lenses have failed.
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Thanks for all the students who involved to prepared this hands notes.