RPwD DISABILITIES

2016
 LOCOMOTOR DISABLITIES

Introduction to Locomotor Disability

INTRODUCTION
Locomotor Disability means restriction in the movement of the limbs. Strictly speaking Locomotor Disability
means problem in moving from one place to another — i.e. disability in legs. But, in general, it is taken as a
disability related with bones, joints and muscles. It causes problems in person’s movements (like walking,
picking or holding things in hand etc.)
The term Locomotor is derived from the Latin words loco – “from a place” and motivus – “causing motion”. So
locomotion means movement from one place to another. And thus locomotor disability hampers movement
from one place to another.
Locomotor disability is also known as mobility disability. Disability of the bones, joint or muscles leading to
substantial restriction of the movement of the limbs or a usual form of cerebral palsy. Some common conditions
giving raise to locomotor disability could be poliomyelitis, cerebral palsy, amputation, injuries of spine, head,
soft tissues, fractures, muscular dystrophies etc.
 
CATEGORIES OF LOCOMOTOR DISABILITIES
·       Permanent Physical impairment of Upper Limb
·       Permanent Physical impairment of Lower Limb
·       Permanent Physical impairment of Trunk (Spine)
·       Permanent Physical impairment in case Short Stature/ Dwarfism
·       Permanent Physical impairment in Amputees
·       Longitudinal deficiencies
·       Permanent Physical impairment in Neurological conditions
·       Permanent Physical impairment due to cardiopulmonary Diseases

CAUSES
A person's inability to execute distinctive activities associated with moving, both personally and objects, from
place to place, and such inability resulting from afflictions of musculo-skelatol and, or nervous system, has
been defined as the Locomotor Disability.
Locomotor disability can be classified as: congenital and acquired. The common causes of these two forms of
affliction can be classified as: congenital and developmental. Common examples being : cerebral palsy, CTEV,
meningocele, meningo myelocele, phocomelias, congenital dislocation of hip. Causes of the acquired disability
can be put within the following jackets : Infective and Traumatic. The infective ones are: tuberculosis of spine
or other joints, chronic osteomyelitis, septic arthritis, acute poliomyelitis, G.B. syndrome, leprosy, encephalitis,
AIDS etc. Traumatic ones are: traffic accidents (air, water, road), domestic accidents, industrial accidents,
agricultural accidents, fall from height, bullet injuries, explosions, violence, sports injuries, natural
catastrophies like earthquakes, floods etc. Then there can be other causes as well, such as vascular. Common
examples are: cerebro vascular disease, peripheral vascular disease, perthe's disease. Neoplastic conditions are
yet another cause of locomotor disability. For example, brain tumors like astrocytoma, meningioma, spinal
tumors like meningioma, astrocytoma, and osteo sarcoma etc.
Metabolism, as has been said earlier, too can be the villain. Common examples are: rickets, diabetes mellitus,
gout etc. There can be degenerative causes too. Examples are: motor neuron disease, parkinson's disease,
multiple sclerosis, osteo arthritis, spondylosis etc. Among the miscellaneous causes can be musculas
dystrophies, rheumatoid arthritis, systemic lupus erythematoses, lathyrism, ankylosing spondylitis, iatrogenic,
and so on .
A brief numeration of common conditions causing Locomotor disability is given below:

Poliomyelitis
Poliovims enters the human body through the mouth and alimentary tract. The virus multiplies in the intestines.
It then travels to the regional lymph nodes and reticulo endothelial structures.
Viremia may occur for a short period. As a result of this, type specific antibodies are produced in the blood and
gut. If the immune response is adequate and fast, the virus is neutralized and illness does not occur. If
conditions for spread of the virus are present, the virus involves the nervous system. Poliovirus selectively
damages some special areas in the nervous system, the most commonly affected area being the anterior horn of
the spinal cord. There is no sensory involvement. Poliomyelitis occurs mostly in, young children. It is
uncommon in adolescents and adults. The clinical picture ranges fiom inapparent illness to extensive paralysis
of the muscles, respiratory failure and even death. Either of the following manifestations may present :
1. Leprosy Cured Person –
2. Cerebral Palsy
3. Dwarfism
4. Muscular Dystrophy
5. Acid-Attack Victim

Leprosy Cured Person –

INTRODUCTION
Leprosy, also known as Hansen’s disease (HD), is a chronic infectious disease caused by a bacteria
called Mycobacterium leprae. The disease mainly affects the skin, the peripheral nerves, mucosal surfaces of
the upper respiratory tract and the eyes. Leprosy is known to occur at all ages ranging from early infancy to
very old age.
The disease develops slowly (from six months to 40 years) and results in skin lesions and deformities, most
often affecting the cooler places on the body (for example, eyes, nose, earlobes, hands, feet, and testicles). The
skin lesions and deformities can be very disfiguring and are the reason that historically people considered
infected individuals outcasts in many cultures. Although human-to-human transmission is the primary source of
infection, three other species can carry and (rarely) transfer M. leprae to humans: chimpanzees, mangabey
monkeys, and nine-banded armadillos. The disease is termed a chronic granulomatous disease, similar
to tuberculosis, because it produces inflammatory nodules (granulomas) in the skin and peripheral nerves over
time. About 95% of people who contact M. Leprea do not develop the disease.
Leprosy cured person means a person who has been cured of leprosy but is suffering from:
1.    loss of sensation in hands or feet as well as loss of sensation and paresis in the eye and eye-lid but with no
manifest deformity;
2.    manifest deformity and paresis but having sufficient mobility in their hands and feet to enable them to
engage in normal economic activity;
3.    extreme physical deformity as well as advanced age which prevents him/her from undertaking any gainful
occupation, and the expression “leprosy cured” shall construed accordingly.
India’s RPWD Act 2016 has recognized the leprosy cured persons with disabilities eligible for receiving
disability benefits.
GRADING:
WHO Grading of Disability in Leprosy
 Grade 0
o Eyes: No eye problem due to leprosy; no evidence of visual loss
o Hands: No anaesthesia, no visible deformity or damage
o Feet: No anaesthesia, no visible deformity or damage
 Grade 1
o Eyes: Eye problem due to leprosy present, but vision not severely affected as a result of these
(vision: 6/60 or better; can count fingers at 6 metres).
o Hands: Anaesthesia present, but no visible deformity or damage
o Feet: Anaesthesia present, but no visible deformity or damage
 Grade 2
o Eyes: Severe visual impairment (vision worse than 6/60, inability to count fingers at 6 metres).
Also includes lagophthalmos, iridocyclitis and corneal opacities
o Hands: Visible deformity or damage present (such as cracks/wounds, claw fingers, wrist drop,
contractures, amputation etc.)
o Feet: Visible deformity or damage present (such as cracks/wounds, claw toes, foot drop,
contractures, amputation etc.)
EHF (Eyes, Hands, Feet) Grade Score is calculated.
Higher the Score, greater the Disability. Maximum EHF Score possible is 12.
1.    EHF Score is 0-1, then % of disability is up to 20%
2.    EHF Score is 2-3, then % of disability is 20% to 40%
3.    EHF Score is 4-5 then % of disability is 41% to 60%
4.    EHF Score is 6-7 then % of disability is 61% to 70%
5.    EHF Score is 8-9 then % of disability is 71% to 80%
6.    EHF Score is 10-11 then % of disability is 81% to 90%
7.    EHF Score is 12 then % of disability is 91 to 100%
·       Involvement of dominant upper extremity (mostly right hand), additional 10% weightage is to be given.
·       Total permanent physical impairment/disability % will not exceed 100%
·       Review may be done after two years, if needed or desired by the affected person, in view of likely
worsening of deformities in some persons.

CLASSIFICTAION
There are multiple forms of leprosy described in the literature. The forms of leprosy depend on the person's
immune response to M. leprae. A good immune response can produce the so-called tuberculoid form of the
disease, with limited skin lesions and some asymmetric nerve involvement. A poor immune response can result
in the lepromatous form, characterized by extensive skin and symmetric nerve involvement. Some patients may
have aspects of both forms. Currently, two classification systems exist in the medical literature: the WHO
system and the Ridley-Jopling system. The Ridley-Jopling system is composed of six forms or classifications,
listed below according to increasing severity of symptoms:
Indeterminate leprosy: a few hypopigmented macules; can heal spontaneously, this form persists or advances
to other forms
Tuberculoid leprosy: a few hypopigmented macules, some are large and some become anesthetic
(lose pain sensation); some neural involvement in which nerves become enlarged; spontaneous resolution in a
few years, persists or advances to other forms; cell-mediated immune response appears in this classification but
is almost absent in lepromatous leprosy
Borderline tuberculoid leprosy: lesions like tuberculoid leprosy but smaller and more numerous with less
nerve enlargement. This form may persist, revert to tuberculoid leprosy, or advance to other forms
Mid-borderline leprosy: many reddish plaques that are asymmetrically distributed, moderately anesthetic,
with regional adenopathy (swollen lymph nodes). The form may persist, regress to another form, or progress
Borderline lepromatous leprosy: many skin lesions with macules (flat lesions) papules (raised bumps),
plaques, and nodules, sometimes with or without anesthesia; the form may persist, regress or progress to
lepromatous leprosy
Lepromatous leprosy: Early lesions are pale macules (flat areas) that are diffuse and symmetric. Later medical
professionals can find many M. leprae organisms in the lesions. Alopecia (hair loss) occurs. Often patients have
no eyebrows or eyelashes. As the disease progresses, nerve involvement leads to anesthetic areas and
limb weakness. Progression leads to aseptic necrosis (tissue death from lack of blood to area), lepromas (skin
nodules), and disfigurement of many areas, including the face. The lepromatous form does not regress to the
other less severe forms. Histoid leprosy is a clinical variant of lepromatous leprosy that presents with clusters of
histiocytes (a type of cell involved in the inflammatory response) and a grenz zone (an area of collagen
separating the lesion from normal tissue) seen in microscopic tissue sections.
Globally, health care professionals use the Ridley-Jopling classification in evaluating patients in clinical
studies. However, the WHO classification system is more widely used. It has only two forms or classifications
of leprosy. The 2009 WHO classifications depend on the number of skin lesions as follows:

 Paucibacillary leprosy: skin lesions with no bacilli (M. leprae) seen in a skin smear

 Multibacillary leprosy: skin lesions with bacilli (M. leprae) seen in a skin smear

However, the WHO further modifies these two classifications with clinical criteria because "of the non-
availability or non-dependability of the skin-smear services. The clinical system of classification for the
purpose of treatment includes the use of number of skin lesions and nerves involved as the basis for grouping
leprosy patients into multibacillary (MB) and paucibacillary (PB) leprosy." Investigators state that up to about
four to five skin lesions constitutes paucibacillary leprosy, while about five or more constitutes multibacillary
leprosy.
Multidrug therapy (MDT) with three antibiotics (dapsone, rifampicin, and clofazimine) treat multibacillary
leprosy, while a modified MDT with two antibiotics (dapsone and rifampicin) is recommended for
paucibacillary leprosy and composes most current treatments today (see treatment section below).
Paucibacillary leprosy usually includes indeterminate, tuberculoid, and borderline tuberculoid leprosy from the
Ridley-Jopling classification, while multibacillary leprosy usually includes the double (mid-) borderline,
borderline lepromatous, and lepromatous leprosy.

TRANSMISSION
It is not known exactly how Hansen’s disease spreads between people. Scientists currently think it may happen
when a person with Hansen’s disease coughs or sneezes, and a healthy person breathes in the droplets
containing the bacteria. Prolonged, close contact with someone with untreated leprosy over many months
is needed to catch the disease.
You cannot get leprosy from a casual contact with a person who has Hansen’s disease like:
 Shaking hands or hugging
 Sitting next to each other on the bus
 Sitting together at a meal
Hansen’s disease is also not passed on from a mother to her unborn baby during pregnancy and it is also not
spread through sexual contact.
Due to the slow-growing nature of the bacteria and the long time it takes to develop signs of the disease, it is
often very difficult to find the source of infection.

SIGNS AND SYMPTOMS

Symptoms mainly affect the skin, nerves, and mucous membranes (the soft, moist areas just inside the body’s
openings).
The disease can cause skin symptoms such as:
 Discolored patches of skin, usually flat, that may be numb and look faded (lighter than the skin around)
 Growths (nodules) on the skin
 Thick, stiff or dry skin
 Painless ulcers on the soles of feet
 Painless swelling or lumps on the face or earlobes
 Loss of eyebrows or eyelashes
Symptoms caused by damage to the nerves are:
 Numbness of affected areas of the skin
 Muscle weakness or paralysis (especially in the hands and feet)
 Enlarged nerves (especially those around the elbow and knee and in the sides of the neck)
 Eye problems that may lead to blindness (when facial nerves are affected)
Symptoms caused by the disease in the mucous membranes are:
·         A stuffy nose
·         Nosebleeds
Since Hansen’s disease affects the nerves, loss of feeling or sensation can occur. When loss of sensation occurs,
injuries such as burns may go unnoticed. Because you may not feel the pain that can warn you of harm to your
body, take extra caution to ensure the affected parts of your body are not injured.
If left untreated, the signs of advanced leprosy can include:
·         Paralysis and crippling of hands and feet
·         Shortening of toes and fingers due to reabsorption
·         Chronic non-healing ulcers on the bottoms of the feet
·         Blindness
·         Loss of eyebrows
·         Nose disfigurement
Other complications that may sometimes occur are:
·         Painful or tender nerves
·         Redness and pain around the affected area
·         Burning sensation in the skin

Cerebral Palsy –
Cerebral palsy refers to a group of neurological disorders that appear in infancy or early childhood and
permanently affect body movement and muscle coordination Cerebral palsy (CP) is caused by damage to or
abnormalities inside the developing brain that disrupt the brain’s ability to control movement and maintain
posture and balance.
The word “Cerebral” refers to Cerebellum — the brain part that usually gets damaged in CP. “Palsy” refers to
the resulting movement disorder. Cerebral palsy affects the motor area of the brain’s outer layer (called the
cerebral cortex), the part of the brain that directs muscle movement. In some cases, the cerebral motor cortex
hasn’t developed normally during fetal growth. In others, the damage is a result of injury to the brain either
before, during, or after birth. In either case, the damage is not repairable and the disabilities that result are
permanent.

TYPES OF CEREBRAL PALSY

The specific forms of cerebral palsy are determined by the extent, type, and location of a child’s
abnormalities. Doctors classify CP according to the type of movement disorder involved -- spastic (stiff
muscles), athetoid (writhing movements), or ataxic (poor balance and coordination) -- plus any additional
symptoms, such weakness (paresis) or paralysis (plegia). For example, hemiparesis (hemi = half) indicates that
only one side of the body is weakened.Quadriplegia (quad = four) means all four limbs are afffected.

Spastic cerebral palsy is the most common type of the disorder. People have stiff muscles and awkward
movements. Forms of spastic cerebral palsy include:
·         Spastic hemiplegia/hemiparesis typically affects the arm and hand on one side of the body, but it can also
include the leg. Children with spastic hemiplegia generally walk later and on tip-toe because of tight heel
tendons. The arm and leg of the affected side are frequently shorter and thinner. Some children will develop an
abnormal curvature of the spine (scoliosis). A child with spastic hemiplegia may also have seizures. Speech will
be delayed and, at best, may be competent, but intelligence is usually normal.
·         Spastic diplegia/diparesis involves muscle stiffness that is predominantly in the legs and less severely
affects the arms and face, although the hands may be clumsy. Tendon reflexes in the legs are hyperactive. Toes
point up when the bottom of the foot is stimulated. Tightness in certain leg muscles makes the legs move like
the arms of a scissor. Children may require a walker or leg braces. Intelligence and language skills are usually
normal.
·         Spastic quadriplegia/quadriparesis is the most severe form of cerebral palsy and is often associated with
moderate-to-severe intellectual disability. It is caused by widespread damage to the brain or significant brain
malformations. Children will often have severe stiffness in their limbs but a floppy neck. They are rarely able to
walk. Speaking and being understood are difficult. Seizures can be frequent and hard to control.
Dyskinetic cerebral palsy (also includes athetoid, choreoathetoid, and dystonic cerebral palsies) is
characterized by slow and uncontrollable writhing or jerky movements of the hands, feet, arms, or
legs. Hyperactivity in the muscles of the face and tongue makes some children grimace or drool. They find it
difficult to sit straight or walk. Some children have problems hearing, controlling their breathing, and/or
coordinating the muscle movements required for speaking. Intelligence is rarely affected in these forms of
cerebral palsy.

Hypotonic cerebral palsy causes diminished muscle tone and overly relaxed muscles. The arms and legs move
very easily and appear floppy, like a rag doll. Babies with this type of CP have little control over their head and
may have trouble breathing. As they grow older, they may struggle to sit up straight as a result of their
weakened muscles. They can also have difficulty speaking, poor reflexes, and walking abnormalities.
Ataxic cerebral palsy affects balance and depth perception. Children with ataxic CP will often have poor
coordination and walk unsteadily with a wide-based gait. They have difficulty with quick or precise
movements, such as writing or buttoning a shirt, or a hard time controlling voluntary movement such as
reaching for a book.

Mixed types of cerebral palsy refer to symptoms that don’t correspond to any single type of CP but are a mix
of types. For example, a child with mixed CP may have some muscles that are too tight and others that are too
relaxed, creating a mix of stiffness and floppiness.

CLASSIFICATION
Cerebral palsy is classified according to the Gross Motor Function Classification System (GMFCS). The World
Health Organization (WHO) and the Surveillance of Cerebral Palsy in Europe developed the GMFCS as a
universal standard for determining the physical capabilities of people with CP.
The system focuses on:

 the ability to sit

 the capability for movement and mobility

 charting independence

 the use of adaptive technology

The five levels of the GMFCS increase with decreasing mobility:

Level 1 cerebral palsy

Level 1 CP is characterized by being able to walk without limitations.

Level 2 cerebral palsy

A person with level 2 CP can walk long distances without limitations, but they can’t run or jump.
They may need assistive devices, such as leg and arm braces, when first learning to walk. They also may need
to use a wheelchair to get around outside of their home.

Level 3 cerebral palsy

A person with level 3 CP can sit with little support and stand without any support.
They need handheld assistive devices, such as a walker or cane, while walking indoors. They also need a
wheelchair to get around outside of the home.

Level 4 cerebral palsy

A person with level 4 CP can walk with the use of assistive devices.
They’re able to move independently in a wheelchair, and they need some support when
they’re sitting.

Level 5 cerebral palsy

A person with level 5 CP needs support to maintain their head and neck position.
They need support to sit and stand, and they may be able to control a motorized wheelchair.

RISK FACTORS
A number of factors are associated with an increased risk of cerebral palsy.

Maternal health
Certain infections or toxic exposures during pregnancy can significantly increase cerebral palsy risk to the
baby. Infections of particular concern include:
·         Cytomegalovirus. This common virus causes flu-like symptoms and can lead to birth defects if a mother
has her first active infection during pregnancy.
·         German measles (rubella). This viral infection can be prevented with a vaccine.
·         Herpes. This can be passed from mother to child during pregnancy, affecting the womb and placenta.
Inflammation triggered by infection can damage the unborn baby's developing nervous system.
·         Syphilis. This is a sexually transmitted bacterial infection.
·         Toxoplasmosis. This infection is caused by a parasite found in contaminated food, soil and the feces of
infected cats.
·         Zika virus infection. Infants for whom maternal Zika infection causes their head size to be smaller than
normal (microcephaly) can develop cerebral palsy.
·         Other conditions. Other conditions that can increase the risk of cerebral palsy include thyroid problems,
intellectual disabilities or seizures, and exposure to toxins, such as methyl mercury.

Infant illness
Illnesses in a newborn baby that can greatly increase the risk of cerebral palsy include:
·         Bacterial meningitis. This bacterial infection causes inflammation in the membranes surrounding the
brain and spinal cord.
·         Viral encephalitis. This viral infection similarly causes inflammation in the membranes surrounding the
brain and spinal cord.
·         Severe or untreated jaundice. Jaundice appears as a yellowing of the skin. The condition occurs when
certain byproducts of "used" blood cells aren't filtered from the bloodstream.
·         Bleeding into the brain. This condition is commonly caused by the baby having a stroke in the womb.
Other factors of pregnancy and birth
While the potential contribution from each is limited, additional pregnancy or birth factors associated with
increased cerebral palsy risk include:
·         Breech presentation. Babies with cerebral palsy are more likely to be in this feet-first position at the
beginning of labor rather than being headfirst.
·         Low birth weight. Babies who weigh less than 5.5 pounds (2.5 kilograms) are at higher risk of
developing cerebral palsy. This risk increases as birth weight drops.
·         Multiple babies. Cerebral palsy risk increases with the number of babies sharing the uterus. If one or
more of the babies die, the survivors' risk of cerebral palsy increases.
·         Premature birth. Babies born fewer than 28 weeks into the pregnancy are at higher risk of cerebral
palsy. The earlier a baby is born, the greater the cerebral palsy risk.

PREVENTION
Most cases of cerebral palsy can't be prevented, but you can lessen risks. If you're pregnant or planning to
become pregnant, you can take these steps to keep healthy and minimize pregnancy complications:
·         Make sure you're vaccinated. Getting vaccinated against diseases such as rubella, preferably before
getting pregnant, might prevent an infection that could cause fetal brain damage.
·         Take care of yourself. The healthier you are heading into a pregnancy, the less likely you'll be to
develop an infection that results in cerebral palsy.
·         Seek early and continuous prenatal care. Regular visits to your doctor during your pregnancy are a
good way to reduce health risks to you and your unborn baby. Seeing your doctor regularly can help prevent
premature birth, low birth weight and infections.
·         Practice good child safety. Prevent head injuries by providing your child with a car seat, bicycle helmet,
safety rails on beds and appropriate supervision.
·         Avoid alcohol, tobacco and illegal drugs. These have been linked to cerebral palsy risk.

DIAGNOSIS
Lab tests can identify other conditions that may cause symptoms similar to those associated with CP.
Neuroimaging techniques that allow doctors to look into the brain (such as an MRI scan) can detect
abnormalities that indicate a potentially treatable movement disorder. Neuro-imaging methods include:

Cranial ultrasound uses high-frequency sound waves to produce pictures of the brains of young babies. It is
used for high-risk premature infants because it is the least intrusive of the imaging techniques, although it is not
as successful as computed tomography or magnetic resonance imaging at capturing subtle changes in white
matter—the type of brain tissue that is damaged in CP.

·         Computed tomography (CT) uses x-rays to create images that show the structure of the brain and the
areas of damage.

·         Magnetic resonance imaging (MRI) uses a computer, a magnetic field, and radio waves to create an
anatomical picture of the brain's tissues and structures. MRI can show the location and type of damage and
offers finer levels of details than CT.

Another test, an electroencephalogram, uses a series of electrodes that are either taped or temporarily pasted to
the scalp to detect electrical activity in the brain. Changes in the normal electrical pattern may help to identify
epilepsy.
Some metabolic disorders can masquerade as CP. Most of the childhood metabolic disorders have characteristic
brain abnormalities or malformations that will show up on an MRI.

TREATMENT

Medications
Medications that can lessen muscle tightness might be used to improve functional abilities, treat pain and
manage complications related to spasticity or other cerebral palsy symptoms.

Muscle or nerve injections

To treat tightening of a specific muscle, your doctor might recommend injections of onabotulinumtoxinA
(Botox, Dysport) or another agent.

Oral muscle relaxants

Drugs such as diazepam (Valium), dantrolene (Dantrium), baclofen (Gablofen, Lioresal) and tizanidine
(Zanaflex) are often used to relax muscles.
Diazepam carries some dependency risk, so it's not recommended for long-term use. Side effects of these drugs
include drowsiness, blood pressure changes and risk of liver damage that requires monitoring.
In some cases, baclofen is pumped into the spinal cord with a tube. The pump is surgically implanted under the
skin of the abdomen.

Dwarfism -
Human beings with adult body height less than 4 feet 10 inches (147.32cm) are considered to be affected
with dwarfism. The average height of dwarfism affected adult persons is 4 feet (122 cm).
Depending on the type of dwarfism a person’s body is either disproportionate or proportionate. Dwarfs whose
bodies are disproportionate have a torso of average size but short arms and legs, this is apparent in conditions
such as, Achondroplasia. Dwarfs who are proportionate appear only to be small in stature, their arms, legs,
trunk and head are in the same proportion as an average size person, only small and they can also have
underlying medical conditions.

TYPES OF DWARFISM
1.    Proportionate
2.    Disproportionate (also known as skeletal dysplasias)
1.    Achondroplasia
2.    Spondyloepiphyseal dysplasias
3.    Diastrophic dysplasia

Proportionate Dwarfism
present at birth or appearing in early childhood that limit overall growth and development. So the head, trunk
and limbs are all small, but they're proportionate to each other. Because these disorders affect overall growth,
many of them result in poor development of one or more body systems.
Growth hormone deficiency is a relatively common cause of proportionate dwarfism. It occurs when the
pituitary gland fails to produce an adequate supply of growth hormone, which is essential for normal childhood
growth. Signs include:
·         Height below the third percentile on standard pediatric growth charts
·         Growth rate slower than expected for age
·         Delayed or no sexual development during the teen years

Disproportionate Dwarfism
this means that a person has an average-size trunk and very short limbs, but some people may have a very short
trunk and shortened (but disproportionately large) limbs. In these disorders, the head is disproportionately large
compared with the body.
Almost all people with disproportionate dwarfism have normal intellectual capacities. Rare exceptions are
usually the result of a secondary factor, such as excess fluid around the brain (hydrocephalus).

Achondroplasia
Characterized by long trunk and shortened upper parts of arms and legs.
·         An average-size trunk
·         Short arms and legs, with particularly short upper arms and upper legs
·         Short fingers, often with a wide separation between the middle and ring fingers
·         Limited mobility at the elbows
·         A disproportionately large head, with a prominent forehead and a flattened bridge of the nose
·         Progressive development of bowed legs
·         Progressive development of swayed lower back
·         An adult height around 4 feet (122 cm)

Spondyloepiphyseal dysplasias
Characterized by a shortened trunk.
·         A very short trunk
·         A short neck
·         Shortened arms and legs
·         Average-size hands and feet
·         Broad, rounded chest
·         Slightly flattened cheekbones
·         Opening in the roof of the mouth (cleft palate)
·         Hip deformities that result in thighbones turning inward
·         A foot that's twisted or out of shape
·         Instability of the neck bones
·         Progressive hunching curvature of the upper spine
·         Progressive development of swayed lower back
·         Vision and hearing problems
·         Arthritis and problems with joint movement
·         Adult height ranging from 3 feet (91 cm) to just over 4 feet (122 cm)

Diastrophic dysplasia
Characterized by shortened forearms and calves.
 deformed hands and feet
 limited range of motion
 cleft palate
  ears with a cauliflower appearance

CAUSES OF DWARFISM
Most dwarfism-related conditions are genetic disorders, but the causes of some disorders are unknown. Most
occurrences of dwarfism result from a random genetic mutation in either the father's sperm or the mother's egg
rather than from either parent's complete genetic makeup.

Achondroplasia
About 80 percent of people with achondroplasia are born to parents of average height. A person with
achondroplasia and with two average-size parents received one mutated copy of the gene associated with the
disorder and one normal copy of the gene. A person with the disorder may pass along either a mutated or
normal copy to his or her own children.

Turner syndrome
Turner syndrome, a condition that affects only girls and women, results when a sex chromosome (the X
chromosome) is missing or partially missing. A female inherits an X chromosome from each parent. A girl with
Turner syndrome has only one fully functioning copy of the female sex chromosome rather than two.

Growth hormone deficiency

The cause of growth hormone deficiency can sometimes be traced to a genetic mutation or injury, but for most
people with the disorder, no cause can be identified.

Other causes
Other causes of dwarfism include other genetic disorders, deficiencies in other hormones or poor nutrition.
Sometimes the cause is unknown.

DWARFISM GENETICS
Skeletal dysplasia is caused by a genetic mutation. The gene mutation can occur spontaneously or can be
inherited.
Diastrophic dysplasia and usually spondyloepiphyseal dysplasias are inherited in a recessive manner. This
means a child must receive two copies of the mutated gene -- one from the mother, one from the father -- to be
affected.
Achondroplasia, on the other hand, is inherited in a dominant manner. That means a child needs only one copy
of the mutated gene to have that form of skeletal dysplasia.This is a fatal condition that usually results
in miscarriage.
Often parents of children with achondroplasia do not carry the mutated gene themselves. The mutation in the
child occurs spontaneously at the time of conception.

DIAGNOSIS
Some forms of dwarfism are evident in utero, at birth or during infancy and can be diagnosed through X-rays
and a physical exam. A diagnosis of achondroplasia, diastrophic dysplasia, or spondyloepiphyseal dysplasia can
be confirmed through genetic testing. In some cases, prenatal testing is done if there is concern for specific
conditions.
TREATMENTS
Early diagnosis and treatment can help prevent or lessen some of the problems associated with dwarfism.
People with dwarfism related to growth hormone deficiency can be treated with growth hormone.
In many cases, people with dwarfism have orthopaedic or medical complications. Treatment of those can
include:
 Insertion of a shunt to drain excess fluid and relieve pressure on the brain
 A tracheotomy to improve breathing through small airways
 Corrective surgeries for deformities such as cleft palate, club foot, or bowed legs
 Surgery to remove tonsils or adenoids to improve breathing problems related to large tonsils, small
facial structures, and/or a small chest
 Surgery to widen the spinal canal (the opening through which the spinal cord passes) to relieve spinal
cord compression
Other treatment may include:
 Physical therapy to strengthen muscles and increase joint range of motion
 Back braces to improve curvature of the spine
 Placement of draining tubes in the middle ear to help prevent hearing loss due to repeated ear infections
 Orthodontic treatment to relieve crowding of teeth caused by a small jaw
 Nutritional guidance and exercise to help prevent obesity, which can aggravate skeletal problems

Muscular Dystrophy
Muscular Dystrophy (MD) is a group of neuromuscular genetic disorders that cause muscle weakness and
overall loss of muscle mass. MD is a progressive condition; Some types of MD eventually affect the heart or
the muscles used for breathing, at which point the condition becomes life-threatening. At present, there is no
cure available for Muscular Dystrophy.
TYPES OF MUSCULAR DYSTROPHY
1.    Myotonic (also called MMD or Steinert’s disease)
2.    Duchenne
3.    Becker
4.    Limb-girdle
5.    Facioscapulohumeral
6.    Congenital
7.    Oculopharyngeal
8.    Distal
9.    Emery-Dreifuss

Duchenne muscular dystrophy

it's inherited, Duchenne MD mostly affects boys. Girls can occasionally be affected, although the condition
tends to be milder.
Children with Duchenne MD usually start to have noticeable symptoms between 1 and 3 years of age. The
muscles around their pelvis and thighs tend to be affected first and often appear bulkier than normal.
A child with Duchenne MD may:
  have difficulty walking, running or jumping
have difficulty standing up
 learn to speak later than usual
 be unable to climb the stairs without support
 have behavioural or learning difficulties

Children with Duchenne MD may need a wheelchair by the time they're 12 years old, as their muscles weaken
and they lose the ability to walk. They can also develop scoliosis, where the spine begins to curve sideways.
This can lead to one shoulder or hip being higher than the other.
By their mid-teens, some people with Duchenne MD will develop dilated cardiomyopathy. This condition
affects the heart muscles, causing the heart's chambers to enlarge and the walls to get thinner.
By their late-teens or early 20s, people with Duchenne MD may start to have breathing problems. The condition
can also affect the intercostal muscles (muscle tissue between the ribs) and the diaphragm (the large, thin sheet
of muscle between the chest and abdomen). 
Once the heart and respiratory muscles are damaged, Duchenne MD becomes life-threatening. With medical
care, most people with Duchenne MD die from heart or respiratory failure before or during their 30s.

Myotonic dystrophy
As with other types of muscular dystrophy, myotonic dystrophy involves progressive muscle weakness and
muscle wasting. However, it's often the smaller muscles that are affected first, such as those in the face, jaw and
neck.
Myotonic dystrophy can appear at any time between birth and old age. It affects the same number of men and
women.
a slow and irregular heartbeat (cardiac arrhythmia)
Life expectancy for people with myotonic dystrophy can vary considerably. Many people have a normal life
expectancy, but people with the more severe congenital form (present from birth) may die while still a newborn
baby, or only survive for a few years.
Some people who first develop symptoms as a child or teenager may also have a shortened life expectancy.
Most deaths related to myotonic dystrophy are related to pneumonia, breathing problems or heart problems.
If you have myotonic dystrophy, it's important that you're well informed about your condition, and that you tell
any healthcare professionals you see that you have it. Myotonic dystrophy can cause difficulties with general
anaesthetics and childbirth.

Facioscapulohumeral muscular dystrophy

Facioscapulohumeral MD can affect both men and women. It tends to affect men slightly more than women,
although the reason for this is unclear. Men also tend to be affected earlier and more severely.
The condition tends to progress slowly.
Signs in your child may include:
 sleeping with their eyes slightly open
 an inability to squeeze their eyes tightly shut
 an inability to purse their lips – for example, to blow up balloons
Teenagers or adults may have shoulder aches, rounded shoulders or thin upper arms. As the condition
progresses, it usually affects the muscles in the:
 face (facio)
 shoulders (scapula)
 upper arms (humeral)
 upper back
 calves

Distal
This group of rare diseases affects adult men and women. It causes weakness and wasting of the distal muscles
(those farthest from the center) of the forearms, hands, lower legs, and feet. It is generally less severe,
progresses more slowly, and affects fewer muscles than other forms of muscular dystrophy. Distal muscular
dystrophy is also called distal myopathy. It affects the muscles in your:

 forearms

 hands

 calves

 feet
It may also affect your respiratory system and heart muscles. The symptoms tend to progress slowly and
include a loss of fine motor skills and difficulty walking. Most people, both male and female, are diagnosed
with distal muscular dystrophy between the ages of 40 and 60.

Becker muscular dystrophy

Like Duchenne MD, Becker MD mostly affects boys. Becker MD also affects similar areas of the body to
Duchenne MD, although the symptoms tend to be less severe.
Symptoms of Becker MD usually begin in childhood, but they're often relatively mild at this point. For
example, a child with the condition may:
 learn to walk later than usual
 have muscle cramps when exercising
 struggle with sports at school

Most people with Becker MD will be able to walk into their 40s and 50s but often find they need to use a
wheelchair as their condition progresses.
If you have Becker MD, you're also at risk of developing dilated cardiomyopathy and breathing problems.
However, Becker MD progresses at a slower rate than Duchenne MD, and those with the condition often have a
normal lifespan.

Congenital
Congenital means present at birth. Congenital muscular dystrophies progress slowly and affect males and
females. The two forms that have been identified -- Fukuyama and congenital muscular dystrophy with myosin
deficiency -- cause muscle weakness at birth or in the first few months of life, along with severe and early
contractures (shortening or shrinking of muscles that causes joint problems). Fukuyama congenital muscular
dystrophy causes abnormalities in the brain and often seizures. Symptoms vary and may include:
  muscle weakness

 poor motor control

 inability to sit or stand without support

 scoliosis

 foot deformities

 trouble swallowing

 respiratory problems

 vision problems

 speech problems

 intellectual impairment
While symptoms vary from mild to severe, the majority of people with congenital muscular dystrophy are
unable to sit or stand without help. The lifespan of someone with this type also varies, depending on the
symptoms. Some people with congenital muscular dystrophy die in infancy while others live until adulthood.

Limb-girdle muscular dystrophy

Limb-girdle MD refers to a number of related conditions that cause weakness in the big muscle groups at the
base of the arms and legs (around the shoulders and hips).
The first symptoms are often mobility problems affecting the hip girdle. It then progresses to the shoulder girdle
("girdle" means the bones around the shoulder or hip).
Symptoms of limb-girdle MD usually begin in late childhood or early adulthood, although the condition can
affect people younger or older than this, depending on the specific type. Males and females are equally affected.
If you have limb-girdle MD, you may experience:
 muscle weakness in your hips, thighs and arms
 loss of muscle mass in the affected areas
 back pain 
 heart palpitations or irregular heartbeats 
The muscle weakness will create problems such as difficulty lifting objects, running or getting out of a low seat.
How quickly limb-girdle MD progresses depends on the specific type. Many types get worse slowly, whereas
others can develop more rapidly.

Oculopharyngeal muscular dystrophy

In oculopharyngeal MD, symptoms aren't usually apparent until a person is around 50 years old. It affects the
muscles in the eyes (ocular) and the throat (pharyngeal).
Symptoms of oculopharyngeal MD can include:
 droopy eyelids
 difficulty swallowing (dysphagia)
 progressive restriction of eye movement as the eye muscles become affected
 limb weakness around the shoulders and hips
As the eyelids droop, they can cover the eyes and impair vision. It's also possible to develop double vision.
Dysphagia can eventually make it difficult to swallow solid foods, liquids and even small amounts of saliva.
This can lead to chest infections if food and drink is accidentally swallowed the "wrong way" into the lungs.
However, with treatment to manage the symptoms, a person's life expectancy isn't usually altered.

Emery-Dreifuss muscular dystrophy

People with Emery-Dreifuss MD often begin to develop symptoms during childhood or adolescence.
In the early stages, people with the condition usually develop muscle contractures (where the muscles and
tendons become shortened and tightened, limiting the range of movement at nearby joints).
Areas commonly affected by muscle contractures include the arms, neck and feet. This means that people with
Emery-Dreifuss MD may have difficulty straightening their elbows or bending their neck forward, for example.
Like all types of MD, Emery-Dreifuss MD also causes progressive muscle weakness, usually beginning in the
shoulders, upper arms and lower legs. This can make it difficult to lift heavy objects or raise your arms above
your head, and you may have an increased tendency to trip over things.

CAUSES
MD is caused by mutations (alterations) in the genes responsible for healthy muscle structure and function. The
mutations mean that the cells that should maintain your muscles can no longer fulfil this role, leading to muscle
weakness and progressive disability.
Inheriting muscular dystrophy

You have two copies of every gene (with the exception of the sex chromosomes). You inherit a copy from one
parent, and the other copy from the other parent. If one or both of your parents has a mutated gene that causes
MD, it can be passed on to you.
Depending on the specific type of MD, the condition can be a:
 recessive inherited disorder
 dominant inherited disorder
 sex-linked (X-linked) disorder
In a few cases, the genetic mutation that causes MD can also develop as a new event in the family. This is
known as a spontaneous mutation.

 
Acid-Attack Victim-
Acid Attack Survivors are the people (mostly women) who became the victim of the crime of acid throwing.
According to RPWD Act 2016, an acid attack victim means a person disfigured due to violent assaults by
throwing of acid or similar corrosive substance.

INJURIES IN ACID ATTACKS

Following is a partial list of bodily injuries often caused by acid attacks:
1.    The skull is partly destroyed/deformed and hair lost.
2.    Ear cartilage is usually partly or totally destroyed; deafness may occur.
3.    Eyelids may be burned off or deformed, leaving the eyes extremely dry and prone to blindness. Acid
directly in the eye also damages sight, sometimes causing blindness in both eyes.
4.    The nose can become shrunken and deformed; the nostrils may close off completely due to destroyed
cartilage.
5.    The mouth becomes shrunken and narrow, and it may lose its full range of motion. Sometimes, the lips
may be partly or totally destroyed, exposing the teeth. Eating and speaking can become difficult.
6.    Scars can run down from the chin to neck area, shrinking the chin and extremely limiting range of motion
in the neck.
7.    Inhalation of acid vapors usually creates respiratory problems, exacerbated restricted airway pathways (the
esophagus and nostrils) in acid attack survivors.

SOME OF THE PROBLEMS FACED BY ACID ATTACK SURVIVORS ARE :

·       Permanent scarring of the face and body
·       Deafness
·       Loss of vision
·       Loss of ability to communicate and eat
·       Respiratory problems
·       Social difficulties
·       Psychological difficulties
·       Economic difficulties

TREATMENT PROVISION FOR ACID ATTACK VICTIMS

Now the section 357B has been newly inserted in Criminal Procedure Code, 1973 which reads as: “The
compensation payable by the State Government under section 357A shall be in addition to the payment of fine
to the victim under section 326A or section 376D of the Indian Penal Code”. 357C has been newly inserted
whereby all hospitals, public or private are required to provide first aid or medical treatment free of cost. The
section reads as: “All hospitals, public or private, whether run by the Central Government, the State
Government, local bodies or any other person, shall immediately, provide the first-aid or medical treatment,
free of cost, to the victims of any offence covered under section 326A, 376, 376A, 376B, 376C, 376D or
section 376E of the Indian Penal Code and shall immediately inform the police of such incident”. Reservation
provision for acid attack victims As per RPWD Act, 2016 every appropriate Government shall appoint in every
government establishment, not less than four percent of the total number of vacancies.
 PHYSICAL DISABILITY – VISUAL IMPAIRMENT

1. Blindness

2. Low Vision
Age-related Macular Degeneration
Amblyopia
Cataract
Diabetic Retinopathy
Glaucoma
Retinitis Pigmentosa
Trachoma
Anatomy of Human Eye

Blindness
A person is legally blind if his/her central visual acuity, that is (what they see in front of them), is less than
20/200 in their good eye after correction, such as glasses or contacts. 20/200 visual acuity means that a person
can see at 20 feet what a person with 20/20 vision can at 200 feet. A person can also be considered legally blind
if their visual field, that is what they perceive to either side of them is 20 degrees or less.

TYPES OF BLINDNESS
Economic blindness: Inability of a person to count fingers from a distance of 6 meters or 20 feet technical
Definition

Social blindness: Vision 3/60 or diminution of field of vision to 10°

Manifest blindness: Vision 1/60 to just perception of light
Absolute blindness: No perception of light
Curable blindness: That stage of blindness where the damage is reversible by prompt management e.g.
cataract
Preventable blindness: The loss of blindness that could have been completely prevented by institution of
effective preventive or prophylactic measures e.g. xerophthalmia, trachoma and glaucoma 
Avoidable blindness: The sum total of preventable or curable blindness is often referred to as avoidable
blindness.

CAUSES
Globally, the leading causes of vision impairment are:

Cataract: Cataracts occur when the normally crystal clear lens of the eye becomes cloudy. This causes blurry
vision, faded colors, and problems seeing through glare. Colors may not seem as bright or vivid as before. It’s
like looking through the dirty windshield of a carCataracts can be treated with surgery.

Risk Factors—Cataracts
• Increasing age, especially over age 50 • Prolonged exposure to ultraviolet B (UV-B) light, especially in
latitudes closer to the equator • Diabetes mellitus • Cigarette smoking • Alcohol use • Diet low in antioxidants,
especially vitamins E and B • High blood pressure • Eye injury/surgery • Steroid use • Female gender

Age-related macular degeneration: Commonly referred to as AMD, age-related macular degeneration is the
leading cause of impairment of reading and close-up vision among people over 65. AMD results in damage to
one’s central vision, which is needed for common daily tasks such as reading and driving. Macular
Degeneration destroys the light sensitive cells in the macula, the part of the eye that lets you see objects in great
detail. Often, the progress of There are two types of Macular Degeneration: wet and dry. Wet Macular
Degeneration occurs when irregular blood vessels begin growing behind the retina under the macula. Dry
Macular Degeneration is caused by the breakdown of light sensitive cells in the macula causing the central
vision to blur. The treatment for Wet Macular Degeneration includes surgery. At this time, no treatment exists
for Dry Macular Degeneration.

Glaucoma: Legal blindness can also be caused by glaucoma, a disease in which the retinal neurons that send
the signal from the eye to the brain die. This disease most often progresses slowly over time, with patients
losing part of their visual field and/or visual acuity. If the visual field diminishes to 20 degrees or less, then the
patient is legally blind. The normal binocular visual field (using both eyes) in the horizontal plane is about 180
degrees. Glaucoma is a disease that damages your eye’s optic nerve. It is caused by excess fluid in the eye
which increases the eye pressure. This fluid is called aqueous humor. It is produced in the front portion of the
eye and leaves the eye through the drainage angle. This keeps the intraocular pressure, at a healthy level.
There are several types of glaucoma. The two most common forms being: Primary Open-angle Glaucoma and
Normal-tension Glaucoma. Open-angle Glaucoma is the most prevalent and happens when your eye can no
longer drain fluid efficiently, causing the pressure to build. Open-angle Glaucoma has no early symptoms. As it
progresses the optic nerve will become damaged, and you will start to notice blank spots in your field of vision.
These spots will grow larger until all optic nerves are damaged, at which point, you will be blind.
Normal Tension Glaucoma is characterized by low pressure in the eye. This type of Glaucoma can also cause
nerve damage and loss of vision. Treatment for both Open-angle Glaucoma and Normal tension Glaucoma is
the same. The disease can be managed by prescription eye drops or surgery.
Unlike Primary Open-angle Glaucoma however, Primary Acute Closed-angle Glaucoma happens quite
suddenly and should be attended to immediately. It results from a buildup of fluid because the drainage system
is blocked and fluid can no longer drain from the eye.

Risk Factors—Glaucoma
• Increased intraocular pressure (IOP) • Age, usually over age 40 • Family history (genetics or similar
environment) • Race or ethnicity: African ancestry (increased IOP; develops at earlier age) • Race or ethnicity:
Caucasian of northern Europe ancestry (pseudoexfoliative type) • Race or ethnicity: Asian (angle closure type) •
Arteriosclerosis • Near or far sightedness (each predisposes to different type)

Diabetic retinopathy: Commonly referred to as DR, typically occurs in four stages and is characterized by
progressive damage to the blood vessels of the retina. Diabetic retinopathy is a common side effect of diabetes.
Diabetic retinopathy occurs when the systemic damage caused by diabetes begins to affect the retina.
Specifically, the blood vessels that nourish the retina can be negatively affected by diabetes, causing vision loss
through bleeding and damage to the retina.
Diabetic Retinopathy is caused by diabetes. It affects the retina, the part of the eye sensitive to light. It is a
result of high blood glucose, or sugar, over a prolonged period of time. High blood sugar prevents the blood
vessels in the back of the eye from delivering the proper nutrients to the retina. Early on in the progress of the
disease, these blood vessels will leak fluid and will cause site distortions. As the disease progresses, new blood
vessels are formed around the retina and in the vitreous humor. These blood vessels will bleed making the
vision cloudy and eventually causing the retina to detach. If not treated, a retinal detachment may cause
permanent blindness. Vision loss caused by Diabetic Retinopathy can be prevented by laser surgery, a proper
diet and controlling your blood glucose levels and blood pressure.

Trachoma: Repeated infections with the bacteria Chlamydia trachomatis cause the inside of the eyelid to scar,
turn inward and painfully scratch the cornea, eventually leading to irreversible blindness. In its earlier stages,
trachoma is treated with antibiotics and is preventable through improved hygiene and sanitation. In the final
stage of the illness, referred to as Trachomatous Trichiasis, surgery on the eyelid is the only way to prevent the
loss of sight.

Retinitis Pigmentosa: Retinitis Pigmentosa affects the retina’s ability to respond to light. It is a geneticly
inherited disease. The symptoms include loss of night vision and peripheral vision. The gradual degeneration of
the retina’s Photoreceptor cells (rods and cones) will eventually cause the individual to become blind As the
disease progresses. For example, retinitis pigmentosa can cause “tunnel vision,” in which only a tiny window of
central vision remains. Such patients might be able to read 20/20 size letters, but would be legally blind because
of the small visual field. 

River blindness (onchocerciasis): is a parasitic disease which causes inflammation and bleeding that leads
ultimately to blindness and other disabling effects. 
There is some variation in the causes across countries. For example, the proportion of vision impairment
attributable to cataract is higher in low- and middle-income countries than high-income countries. In high
income countries, diseases such as diabetic retinopathy, glaucoma and age-related macular degeneration are
more common.

PREVENTION
Blindness is preventable through a combination of education and access to good medical care. Most traumatic
causes of blindness can be prevented through eye protection. Nutritional causes of blindness are preventable
through proper diet. Most cases of blindness from glaucoma are preventable through early detection and
appropriate treatment. Visual impairment and blindness caused by infectious diseases have been greatly
reduced through international public-health measures.
The majority of blindness from diabetic retinopathy is preventable through careful control of blood-sugar
levels, exercise, avoidance of obesity and smoking, and emphasis on eating foods that do not increase
the sugar load (complex, rather than simple carbohydrates). There has been an increase in the number of people
who are blind or visually impaired from conditions that are a result of living longer. As the world's population
achieves greater longevity, there will also be more blindness from diseases such as macular degeneration.
However, these diseases are so common that research and treatment are constantly evolving. Regular eye
examinations may often uncover a potentially blinding illness that can then be treated before there is any visual
loss.
There is ongoing research regarding gene therapy for certain patients with inheritable diseases such as Leber's
congenital amaurosis (LCA) and retinitis pigmentosa. Improvements in diagnosis and prevention of retinopathy
of prematurity, a potentially blinding illness seen in premature babies, have made it an avoidable cause of
blindness today.

RISK
Other risk factors include poor prenatal care, premature birth, advancing age, poor nutrition, failing to wear
safety glasses when indicated, poor hygiene, smoking, a family history of blindness, the presence of various
ocular diseases and the existence of medical conditions including diabetes mellitus, hypertension,
cerebrovascular disease, and cardiovascular disease.

Anyone who meets one of the following criteria is eligible to receive a Certificate of Blindness/Visual
Impairment:
       Total blindness
       Visual acuity which is less than 3/60 in the better eye, even with the assistance of eyeglasses
       Field of vision which is less than 20° in the better eye, even with the assistance of eyeglasses
Ophthalmology is the specialty of medicine that deals with diagnosis and medical and surgical treatment of eye
disease. Therefore, ophthalmologists are the specialists who have the knowledge and tools to diagnose the
cause of blindness and to provide treatment, if possible.

Low vision –

INTRODUCTION
Low vision is the loss of sight that is not correctible with prescription eyeglasses, contact lenses, or surgery.
The American Optometric Association defines low vision as two categories:
 "Partially sighted": the person has visual acuity between 20/70 and 20/200 with conventional
prescription lenses.
 "Legally blind": the person has visual acuity no better than 20/200 with conventional correction and/or a
restricted field of vision less than 20 degrees wide.
The ratio measurement of vision describes visual acuity, or the sharpness of vision, at 20 feet from an object.
For example, having 20/70 vision means that you must be at 20 feet to see what a person with normal vision
can see at 70 feet.
Low-vision means a condition where a person has any of the following conditions, namely:
1.    visual acuity not exceeding 6/18 or less than 20/60 upto 3/60 or upto 10/200 (Snellen) in the better eye with
best possible corrections; or
2.    limitation of the field of vision subtending an angle of less than 40 degree up to 10 degree.

TYPES
Common Types of Low Vision
·         Loss of Central Vision. The loss of central vision creates a blur or blind spot, but a person's side
(peripheral) vision remains. This makes it difficult to read, recognize faces and distinguish most details in the
distance. With side vision intact, however, mobility is usually unaffected.
·         Loss of Peripheral (Side) Vision. People who lose their peripheral vision cannot distinguish anything to
one side or both sides, or anything directly above and/or below eye level. Central vision remains, however,
making it possible to see directly ahead, read and see faces. Typically, loss of peripheral vision affects mobility.
If it is severe, it can slow reading speed because the person can only see a few words at a time. This is
sometimes referred to as "tunnel vision."

·         Blurred Vision. With blurred vision, both near and far vision is out of focus, even with the best possible
correction with eyeglasses.

·         Reduced Contrast Sensitivity. People with loss of contrast sensitivity, have a loss of vision quality. They
tend to feel that there is a generalized haze with a sensation of a film or cloudiness. 

·         Glare Light Sensitivity. Occurs when standard levels of light overwhelm a person's visual system,
producing a washed-out image and/or a glare. People with extreme light sensitivity may suffer pain or
discomfort from relatively normal levels of light.

·         Night Blindness. People with night blindness cannot see outside at night or in dimly lighted interior areas
such as movie theaters or restaurants.
 
CAUSES OF LOW VISION
Eye diseases or conditions can cause visual impairment. Some of the more common causes of low vision
include:
·         Macular Degeneration. Macular degeneration is a disorder that affects the retina, the light-sensitive lining
at the back of the eye where images are focused. The macula-the area on the retina responsible for sharp central
vision-deteriorates, causing blurred vision. This can cause difficulty reading and, for some, a blurry or blind
spot in the central area of vision.
·         Cataracts. A cataract is a clouding of part or all the lens inside the eye. This clouding interferes with light
reaching the retina at the back of the eye, resulting in general loss of vision. Causes include aging, long-term
exposure to the sun's ultraviolet radiation, injury, disease and inherited disorders. If the eye is healthy, a cataract
can be surgically removed.
·         Glaucoma. Glaucoma causes damage to the optic nerve. Most commonly, this occurs due to increasing
internal pressure in the eye because of problems with the flow or drainage of fluid within the eye. It can also
occur when the internal pressure of the eye does not increase (normal-tension glaucoma), but there is not
enough blood flow to the optic nerve. There are no early symptoms in the most common form of glaucoma, but
the first signs of damage are defects in side (peripheral) vision and difficulty with night vision. If diagnosed
early, it can be treated with drugs, or sometimes surgery can minimize vision loss.
·         Diabetic Retinopathy. Diabetes can cause blood vessels that nourish the retina to develop tiny, abnormal
branches that leak. This can interfere with vision and, over time, may severely damage the retina. Laser
procedures and surgical treatments can reduce its progression but regulating blood sugar is the most important
step in treating diabetic retinopathy.
·         Retinitis Pigmentosa. Retinitis pigmentosa gradually destroys night vision, severely reduces side vision
and may result in total vision impairment. An inherited disease, its first symptom-night blindness-usually
occurs in childhood or adolescence.
·         Amblyopia. In amblyopia, the visual system fails to develop normally during childhood. The blurry
vision that results in one or both eyes is not easily corrected with normal glasses or contact lenses alone.
·         Retinopathy of Prematurity (ROP). Retinopathy of prematurity occurs in infants born prematurely. It is
caused by the high oxygen levels in incubators during the critical neonatal period.
·         Retinal Detachment. With a retinal detachment, the retina separates from its underlying layer. It can
cause total vision impairment in the affected eye. Causes include holes in the retina, eye trauma, infection,
blood vessel disturbance or a tumor. If diagnosed early, most detached retinas can be surgically reattached with
vision partially or completely restored
·         Acquired (Traumatic) Brain Injury. Vision can also be lost or damaged as a result of head injuries, brain
damage and stroke. Signs and symptoms can include reduced visual acuity or visual field, contrast sensitivity,
blurred vision, eye misalignment, poor judgment of depth, glare sensitivity, confusion when performing visual
tasks, difficulty reading, double vision, headaches, dizziness, abnormal body posture and balance problems.

CLASSIFICATION
The World Health Organization uses the following classifications of visual impairment. 
When the vision in the better eye with best possible glasses correction is:
·         20/30 to 20/60, this is considered mild vision loss, or near-normal vision
·         20/70 to 20/160, this is considered moderate visual impairment, or moderate low vision
·         20/200 or worse, this is considered severe visual impairment, or severe low vision
·         20/500 to 20/1000, this is considered profound visual impairment or profound low vision
·         Less than 20/1000, this is considered near-total visual impairment or near total low vision

No light perception, this is considered total visual impairment, or total blindness

 HEARING IMPAIRMENT

INTRODUCTION
Hearing impairment is a partial or total inability to hear. It is a disability which is sub-divided in two categories
of deaf and hard of hearing.
 “Deaf” means persons having 70 dB hearing loss in speech frequencies in both ears.
 “Hard of hearing” means person having 60 dB to 70 dB hearing loss in speech frequencies in both ears.
A pure tone audiometry test measures the softest, or least audible, sound that a person can hear. During the test,
you will wear earphones and hear a range of sounds directed to one ear at a time. The loudness of sound
is measured in decibels (dB).

Person with disability act- (PWD, 1995)

·       Definition of disability in pwd act includes hearing impairment- Hearing impairment means loss of 60
decibel or more in the better ear in speech conversation frequencies.
Centre for diseases control and prevention (CDC) – Refers to hearing impairment as conditions that affect the
frequency and or intensity of one’s hearing. Individuals with mild to moderate hearing impairments may be
“hard of hearing” but are not “deaf” these individuals differ from deaf individuals as they use their hearing to
assist in communication with others

CLASSIFICATION
According to degree of impairment – WHO

According to place of impairment –

·       Conductive hearing loss – hearing loss due to the interference in the transmission of sound to and
through the sense organ (outer or middle ear). Conductive hearing loss can be caused by blockage of the
external canal, perforation of the eardrum, infections and diseases of the middle ear, and disruption or fixation
of the small hearing bones. A person with a conductive hearing loss may hear better in noise than in quiet and
generally hears well over the telephone. Total deafness is rarely the result of conductive hearing impairments,
and a properly fitted hearing aid usually provides benefit. Sometimes a surgical correction can improve the
hearing.

·       Sensory-neural hearing loss – due to the abnormality of the inner ear or the auditory nerve, or both.
Sensorineural hearing impairment is more common and has many possible causes. Usually the condition results
in slow, gradual loss of the sound receptors and nerve endings. Patients may experience a lack of sensitivity to
sound or a lack of interpretation or clarity of sound. Speech understanding is difficult when there is background
noise, and hearing sensitivity is usually better for low tones than high-pitched sounds. Hearing aids provide
benefit for many patients with sensorineural impairment by amplifying sounds. However hearing aids typically
do not increase the clarity of speech. When speech understanding deteriorates significantly, hearing aids may
not provide sufficient benefit. Many of such patients are good candidates for a cochlear implant. These devices
are surgically implanted and directly stimulate the hearing nerve to improve the ability to hear sounds and the
ability to understand speech.

·       Mixed hearing loss - combination of both; sometimes called a flat loss. This is a combination of
conductive and sensorineural hearing loss. Long-term ear infections can damage both the eardrum and the
ossicles. Sometimes, surgical intervention may restore hearing, but it is not always effective.
According to the age at onset of deafness
•      Congenitally deaf – born deaf
•      Adventitiously deaf – born with normal hearing and became deaf through accident/illness
According to language development-
•      Pre-lingually deaf – born deaf or lost hearing before speech and language were developed
•      Post-lingually deaf- lost hearing after development of spontaneous speech and language

CAUSES
The causes of hearing loss and deafness can be congenital or acquired.
Congenital causes
Congenital causes may lead to hearing loss being present at or acquired soon after birth. Hearing loss can be
caused by hereditary and non-hereditary genetic factors or by certain complications during pregnancy and
childbirth, including:
 maternal rubella, syphilis or certain other infections during pregnancy;
 low birth weight;
 birth asphyxia (a lack of oxygen at the time of birth);
 inappropriate use of particular drugs during pregnancy, such as aminoglycosides, cytotoxic drugs,
antimalarial drugs, and diuretics;
 severe jaundice in the neonatal period, which can damage the hearing nerve in a newborn infant.

Formula for Calculating Percentage of Hearing Disability

Percentage of Hearing Disability = (Better ear % of hearing disability x 5) + (Poorer ear % of hearing
disability) / 6
A tuning fork test: This is also known as the Rinne test. A tuning fork is a metal instrument with two prongs
that produces a sound when it is struck. Simple tuning fork tests may help the doctor detect whether there is any
hearing loss, and where the problem is.
A tuning fork is vibrated and placed against the mastoid bone behind the ear. The patient is asked to indicate
when they no longer hear any sound. The fork, which is still vibrating, is then placed 1 to 2 centimeters (cm)
from the auditory canal. The patient is asked again whether they can hear the fork.

Audiometer test: The patient wears earphones, and sounds are directed into one ear at a time. A range of
sounds is presented to the patient at various tones. The patient has to signal each time a sound is heard.
Each tone is presented at various volumes, so that the audiologist can determine at which point the sound at that
tone is no longer detected. The same test is carried out with words. The audiologist presents words at various
tones and decibel levels to determine where the ability to hear stops.

Bone oscillator test: This is used to find out how well vibrations pass through the ossicles. A bone oscillator is
placed against the mastoid. The aim is to gauge the function of the nerve that carries these signals to the brain.

TREATMENT
Help is available for people with all types of hearing loss. Treatment depends on both the cause and severity of
the deafness.
Sensorineural hearing loss is incurable. When the hair cells in the cochlea are damaged, they cannot be
repaired. However, various treatments and strategies can help improve quality of life.

Hearing aid:
Hearing aids can help to improve hearing and quality of life. These are wearable devices that assist hearing.
There are several types of hearing aid. They come in a range of sizes, circuitries, and levels of power. Hearing
aids do not cure deafness but amplify the sound that enters the ear so that the listener can hear more clearly.
Hearing aids consist of a battery, loudspeaker, amplifier, and microphone. Today, they are very small, discreet,
and can fit inside the ear. Many modern versions can distinguish background noise from foreground sounds,
such as speech.
A hearing aid is not suitable for a person with profound deafness. The audiologist takes an impression of the ear
to make sure the device fits well. It will be adjusted to suit auditory requirements.
Examples of hearing aids include:
Behind-the-ear (BTE) hearing aids: These consist of a dome called an earmold and a case, with a connection
linking one to the other. The case sits behind the outer ear, with the connection to the dome coming down the
front of the ear. The sound from the device is either electrically or acoustically routed to the ear.
BTE hearing aids tend to last longer than other devices, as the electrical components are located outside the ear,
meaning that there is less moisture and earwax damage These devices are more popular with children who need
a sturdy and easy-to-use device.
In-the-canal (ITC) hearing aids: These fill the outer part of the ear canal and can be seen. Soft ear inserts,
usually made of silicone, are used to position the loudspeaker inside the ear. These devices fit most patients
straight away and have better sound quality.
Completely in the canal (CIC) hearing aids: These are tiny, discreet devices but not recommended for people
with severe hearing loss.
Bone conduction hearing aids: These assist people with conductive hearing loss, as well as those unable to
wear conventional type hearing aids. The vibrating part of the device is held against the mastoid with a
headband. The vibrations go through the mastoid bone, to the cochlea. These devices can be painful or
uncomfortable if worn for too long.
Cochlear implants:
If the eardrum and middle ear are functioning correctly, a person may benefit from a cochlear implant.
This thin electrode is inserted into the cochlea. It stimulates electricity through a tiny microprocessor placed
under the skin behind the ear.
A cochlear implant is inserted to help patients whose hearing impairment is caused by hair cell damage in the
cochlea. The implants usually improve speech comprehension. The latest cochlear implants have new
technology that helps patients enjoy music, understand speech better even with background noise, and use their
processors while they are swimming.
On the outside, a cochlear implant consists of:

 A microphone: This gathers sound from the environment.

 A speech processor: This prioritizes the sounds that matter more to the patient, such as speech. The
electrical sound signals are split into channels and sent through a very thin wire to the transmitter.

 A transmitter: This is a coil secured with a magnet. It is located behind the outer ear and transmits the
processed sound signals to the internally implanted device.
On the inside;

 A surgeon secures a receiver and stimulator in the bone beneath the skin. The signals are converted into
electrical impulses and sent through internal wires to the electrodes.

 Up to 22 electrodes are wound through the cochlea. The impulses are sent to the nerves in the lower
passages of the cochlea and then directly to the brain. The number of electrodes depends on
manufacturers of the implant.
Children will usually have cochlear implants in both ears, while adults tend to have just one.
 Speech and Language Disability

COMMON TYPES OF SPEECH AND LANGUAGE DISORDERS

Delayed language 
 Articulation disorders
Articulation means making sounds and words. To do this, the lips, teeth, tongue, jaw, and palate (roof of the
mouth) need to move together to make shapes.
There are three types of articulation disorders. They are called omissions, substitutions, or distortions. Omission
means leaving something out. An example of a speech omission is saying “at” for “hat” or “oo” for “shoe.”
Substitution means putting something where something else belongs. An example of a speech substitution is the
use of “w” for “r” and saying “wabbit” for “rabbit.” Another example is using “th” for “s” and saying “thun”
for “sun.” Distortion means that the parts are mostly there, but they are a little wrong. The child says a word
that sounds something like what it should, but it is not quite right. An example is “shlip” for “ship.”
Articulation disorders are not the same as “baby talk.” It is important to know the difference. Baby talk happens
in young children who mispronounce words. That is normal and not a disorder. In older children it is no longer
cute. Articulation problems then get in the way of good communication. Sometimes a different accent may be
confused with articulation problems. An accent is a problem for a child only if it gets in the way of the child’s
communication. As a general rule, a child should be able to make all the sounds of English by the age of 8.
Articulation problems may come from: 
   • Physical handicaps such as cerebral palsy, cleft palate, or dental problems
   • Hearing loss
   • Incorrect speech and language models for a child

Stuttering
Stuttering is when speech does not flow smoothly. People who stutter can experience the following types of
disruption:

 Repetitions occur when people involuntarily repeat sounds, vowels, or words (for example, st-st-strong).

 Blocks happen when people know what they want to say but have difficulty making the necessary
speech sounds. Blocks may cause someone to feel as though their words are stuck.

 Prolongations refer to the stretching or drawing out of particular sounds or words (for example,
sssssssstrong).

There are two main types of stuttering:

 Developmental stuttering affects young children who are still learning speech and language skills.
Genetic factors significantly increase a person’s likelihood of developing this type of stutter.

 Neurogenic stuttering occurs when damage to the brain prevents proper coordination between the
different regions of the brain that play a role in speech.
Stuttering may be caused by:
   • Developmental causes – Developmental stuttering happens when a child is learning to talk. He cannot find
the words that
     he wants to say as fast as he thinks. This type of stuttering is normal. It goes away as the child grows. 
   • Neurogenic causes (causes that start in the nervous system) –Stuttering may be caused by problems in the
brain, nerves, or muscles. The part of the brain that is responsible for speech and language development may be
damaged by a stroke or by a head injury. The muscles that are responsible for forming sounds and words may
be damaged. 
   • Psychogenic causes (causes that start in the way a person thinks or feels) – Stuttering may be caused by
severe damage or stress to the mind. This type of stuttering happens in children with mental illness. Very few
children stutter because of these causes.
   • Hereditary causes – Stuttering may run in the family and be passed to a child from her parents. Some
experts disagree
     with this theory.

Voice disorders
Voice disorders are sometimes called “voice abuse.”
Voice disorders in children can be corrected with speech therapy. In speech therapy, children are taught to
speak softly. They are also taught not to scream, shout, or do anything that may hurt their vocal cords and affect
their voice. Remember that children like to copy what the adults around them do. So if they see you speaking
loudly or shouting, they will do the same. Practice speaking softly so that the children around you will do the
same.
Aphasia
Aphasia is a language disorder. It is caused by injury to those parts of the brain that are responsible for
language. This is mostly the left side of the brain. Aphasia may be caused suddenly, perhaps from a stroke or a
head injury, or it may develop slowly, perhaps from a brain tumor.
Apraxia
The brain controls every single action that people make, including speaking. Most of the brain’s involvement in
speech is unconscious and automatic.
When someone decides to speak, the brain sends signals to the different structures of the body that work
together to produce speech. The brain instructs these structures how and when to move to form the appropriate
sounds.
For example, these speech signals open or close the vocal cords, move the tongue and shape the lips, and
control the movement of air through the throat and mouth.
Apraxia is a general term referring to brain damage that impairs a person’s motor skills, and it can affect any
part of the body. Apraxia of speech, or verbal apraxia, refers specifically to the impairment of motor skills that
affect an individual’s ability to form the sounds of speech correctly, even when they know which words they
want to say.
Dysarthria
Dysarthria occurs when damage to the brain causes muscle weakness in a person’s face, lips, tongue, throat, or
chest. Muscle weakness in these parts of the body can make speaking very difficult.
There are two major types of language disorders. It’s possible for a child to have both.
Receptive: This is when your child finds it hard to understand speech. They may find it hard to:
 Follow directions
 Answer questions
 Point to objects when asked
Expressive : If your child has trouble finding the right words to express themselves, they may have this type of
language disorder. Kids with an expressive disorder may find it tough to:
 Ask questions
 String words into sentences
 Start and continue a conversation

DIAGNOSIS
A speech-language pathologist (SLP) is a healthcare professional who specializes in speech and language
disorders.
TREATMENT
Children with language problems often need extra help and special instruction. Speech-language pathologists
can work directly with children and their parents, caregivers, and teachers.
Having a language or speech delay or disorder can qualify a child for early intervention (for children up to 3
years of age) and special education services (for children aged 3 years and older). The type of treatment will
typically depend on the severity of the speech disorder and its underlying cause.
We discuss some of the treatment options for speech disorders below:
Target selection
Target selection involves a person practicing specific sounds or words to familiarize themselves with particular
speech patterns. Examples of therapy targets may include difficult words or sounds that trigger speech
disruptions.
Contextual utilization
For this approach, SLPs teach people to recognize speech sounds in different syllable-based contexts.
Contrast therapy
Contrast therapy involves saying word pairs that contain one or more different speech sounds. An example
word pair might be “beat” and “feet” or “dough” and “show.”
Oral-motor therapy
The oral-motor therapy approach focuses on improving muscle strength, motor control, and breath control.
These exercises can help people develop fluency, which produces smoother speech that sounds more natural.
 Introduction to Intellectual Disability

1. Specific Learning Disability

2. Autism Spectrum Disorder

CLASSIFICATION
AAMR Classification Scheme
     I.Q.(intelligence quotient) is 100; normal ranges from 90 to 110
·       Border line { IQ 70-80 }
·       mild MR     { IQ 55-70 }
·       moderate MR{ IQ 40-55 }
·       sever MR      { IQ 25-40 }
·       profound MR { IQ below 25 }

CAUSES

Fragile X syndrome
Fragile X syndrome is the most common known cause of an inherited intellectual disability worldwide. It is a
genetic condition caused by a mutation (a change in the DNA structure) in the X chromosome.
People born with Fragile X syndrome may experience a wide range of physical, developmental, behavioural,
and emotional difficulties, however, the severity can be very varied.
Some common signs include a developmental delay, intellectual disability, communication difficulties, anxiety,
ADHD, and behaviours similar to autism such as hand flapping, difficulty with social interactions, difficulty
processing sensory information, and poor eye contact

Down syndrome
Down syndrome is not a disease or illness, it is a genetic disorder which occurs when someone is born with a
full, or partial, extra copy of chromosome 21 in their DNA.

Prader-Willi Syndrome (PWS)

This disability is quite complex and it’s caused by an abnormality in the genes of chromosome 15.
One of the most common symptoms of PWS is a constant and insatiable hunger which typically begins at two
years of age. People with PWS have an urge to eat because their brain (specifically their hypothalamus) won’t
tell them that they are full, so they are forever feeling hungry.
The symptoms of PWS can be quite varied, but poor muscle tone and a short stature are common. A level of
intellectual disability is also common, and children can find language, problem solving, and maths difficult.
Someone with PWS may also be born with distinct facial features including almond-shaped eyes, a narrowing
of the head, a thin upper-lip, light skin and hair, and a turned-down mouth.

Fetal alcohol spectrum disorder (FASD)

FASD refers to a number of conditions that are caused when an unborn foetus is exposed to alcohol.
The symptoms can vary however can include distinctive facial features, deformities of joints, damage to organs
such as the heart and kidneys, slow physical growth, learning difficulties, poor memory and judgement,
behavioural problems, and poor social skills.

Autism Spectrum Disorder

INTRODUCTION
The word Autism was first used as a diagnosis in 1943, by Dr. Leo Kanner (Kanner, 1943) of Maryland’s Johns
Hopkins Hospital, after studying 11 children he diagnosed to have early infantile Autism. Autism Spectrum
Disorder (ASD) is a neurological and developmental disorder which affects communication and behavior.
Autism can be diagnosed at any age. But still it is called a “developmental disorder” because symptoms
generally appear in the first two years of life. Autism affects affects the overall cognitive, emotional, social and
physical health of the affected individual.
Autism is called as a “spectrum” disorder because there is wide variation in the type and severity of symptoms
people experience.
Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5)
The DSM-5 was published on 18 May 2013. autism and less severe forms of the condition, including Asperger
syndrome and pervasive developmental disorder not otherwise specified (PDD-NOS), have been combined into
the diagnosis of autism spectrum disorder (ASD).
Therefore, now Asperger syndrome is no longer considered a separate syndrome. Now, it is part of ASD.
A diagnosis of Autism is given when three specific areas of development are significantly affected. These
three areas are known as the “triad of impairments”. They are: social development, communication and
repetitious behaviors and restricted interests (American Psychological Association, 1994, World Health
Organizations, 1994). 

TYPES OF ASD
Autistic Disorder
Autistic Disorder, also known as the ‘classic case of Autism.’ This is the typical case that people think of when
they think of an individual with Autism. These individuals may have issues with verbal and non-verbal
communication.Additionally, they may experience hypo-sensitivity to sight, sound, smell touch or taste. An
individual with classic Autism may find it difficult to go through the motions of their everyday life without
repetition or routine and may have a negative reaction when either of these are taken away from them. They
may also have a hard time relating to society and other people, as they may not be able to empathize with other
people’s emotions since they do not experience the same emotions themselves.
Asperger Syndrome
Asperger Syndrome is a form of Autism that presents challenges socially and in the individuals’ behavior or
interests. They may have milder symptoms than those with classic Autistic Disorder but have their own trials
and tribulations in their daily life. Someone that has Asperger Syndrome may act inappropriately in social
situations, coming across as awkward or rude. They may feel more comfortable speaking about themselves,
rather than focusing on someone they are socializing with, which makes them appear to be unempathetic and
selfish. An individual with Asperger Syndrome may also have trouble expressing themselves nonverbally,
which can cause them to not know how to have appropriate facial expressions, gestures or body language.
Childhood Disintegrative Disorder – children with this type of autism can seem perfectly fine in their first
two years of life – developing normally, meeting all their milestones – but start regressing suddenly. CDD can
be particularly tough and confusing for parents because one day your child is showing no signs of
developmental delays, and suddenly they stop talking and interacting. This was the rarest and most severe part
of the spectrum. It described children who develop normally and then quickly lose many social, language, and
mental skills, usually between ages 2 and 4. Often, these children also developed a seizure disorder.

Pervasive Developmental Disorder

Pervasive Developmental Disorder- Not Otherwise Specified (PDD-NOS) is best described as individuals that
do not fit into either the Autistic Disorder or the Asperger Syndrome categories. This person may have some
mild symptoms from both types of Autism, but present other high functioning characteristics as well. These
individuals can be in one of three categories: high-functioning, symptoms close to Autistic Disorder but not
quite fully meeting its symptoms and the third group which is that the individual does meet all of the
requirements to be in the Autistic Disorder group but have very mild behavior symptoms. This specific
category is relatively new, as it has been categorized as a part of the Autism spectrum only in the past 15 years.

Rett Syndrome - this progressive disorder begins with similar characteristics that are found in other forms of
autism, like repetitive arm and hand waving, issues with fine and gross motor skills, and delayed speech. This
type of autism only affects girls and can be apparent when they reach 6 months old. Symptoms like difficulty
breathing, grinding teeth, growth delays, seizures, and mental retardation can increase in severity as the child
gets older. Rett syndrome is a genetic disorder that primarily affects girls.4 It is the only one of the former
autism spectrum disorders that can be diagnosed medically (so far); as of May 2013, it is no longer included in
the Autism Spectrum..
An individual with Autism Spectrum Disorder will face several struggles throughout their life, including social
behavior and traits, motor functions and their overall behavior patterns. An individual that is on the Autism
spectrum may experience the following difficulties and struggles through out their life.
Conditions that co-exist with autism: Other conditions like mental retardation, hyperactivity, motor
difficulties, seizures, learning disability, hearing or visual impairment may co-exist with autism.
Children with autism may have some of these difficulties:
Communication:
       Have significant difficulties in forming meaningful sentences even when they have extensive
vocabularies
       May repeat words or phrases they hear 
       May repeat actions again and again
       May use sign language while speaking
       May or may not learn language for communication
       Inability to explain their needs, feelings and emotions
       Inability to interpret conversation, voice, facial expressions, body language
       Inability to have eye contact when someone is speaking
Social interaction:
       As infants, they may not smile or display any anticipatory posture for being picked up as an adult
approaches. 
       Difficulty in learning social skills or interacting with people
       May not prefer to make friends and instead plays alone.
       Avoids eye contact
       Inability to understand feelings or emotions of others around them, due to which they may not reciprocate
with appropriate response.
       Trouble adatpting to routine changes
       May respond differently to the way things smell, taste, look, feel, or sound
Sensory:
       Difficulty in hearing
       Sensitive to touch, sound, light, color, taste, smell
       May be sensitive to certain types of food
       May be uncomfortable with touch or physical contact
Restrictive / repetitive behaviors may include:
       Difficulty in following instructions or directions
       Shows unusual attachment to toys, objects, unusual interest in specific activities, obsessed about a
specific activity
       Activities and play are generally rigid, repetitive, and monotonous
       Not afraid of real danger, but fearful of harmless objects
       Sudden mood changes: bursts of laughing or crying without obvious reason. Hyperkinesis (excessive
abnormal movements due to increase in muscular activity) is a common behavior problem in a child with
autism, and it may alternate with hyperactivity.
       Aggression and temper tantrum are observed, prompted mostly by change and demands.
       Short attention span, poor ability to focus on a task
       Feeding and eating problems
       People with ASD may also experience sleep problems and irritability.

RISK FACTORS
While scientists don’t know the exact causes of ASD, research suggests that genes can act together with
influences from the environment to affect development in ways that lead to ASD. Although scientists are still
trying to understand why some people develop ASD and others don’t, some risk factors include:
       Having a sibling with ASD
       Having older parents
       Having certain genetic conditions—people with conditions such as Down syndrome, fragile X syndrome,
and Rett syndrome are more likely than others to have ASD
       Very low birth weight

SEVERITY LEVELS FOR AUTISM SPECTRUM DISORDER

Level 1 "Requiring support”
Social communication
Without supports in place, deficits in social communication cause noticeable impairments. Difficulty initiating
social interactions, and clear examples of atypical or unsuccessful response to social overtures of others. May
appear to have decreased interest in social interactions. For example, a person who is able to speak in full
sentences and engages in communication but whose to- and-fro conversation with others fails, and whose
attempts to make friends are odd and typically unsuccessful.
Restricted, repetitive behaviors
Inflexibility of behavior causes significant interference with functioning in one or more contexts. Difficulty
switching between activities. Problems of organization and planning hamper inde

Level 2 "Requiring substantial support”

Social communication
Marked deficits in verbal and nonverbal social communication skills; social impairments apparent even with
supports in place; limited initiation of social interactions; and reduced or  abnormal responses to social
overtures from others. For example, a person who speaks simple sentences, whose interaction is limited  to
narrow special interests, and how has markedly odd nonverbal communication.
Restricted, repetitive behaviors
Inflexibility of behavior, difficulty coping with change, or other restricted/repetitive behaviors appear
frequently enough to be obvious to the casual observer and interfere with functioning in  a variety of contexts.
Distress and/or difficulty changing focus or action.
Level 3 "Requiring very substantial support”
Social communication
Severe deficits in verbal and nonverbal social communication skills cause severe impairments in functioning,
very limited initiation of social interactions, and minimal response to social overtures from others. For example,
a person with few words of intelligible speech who rarely initiates interaction and, when he or she does, makes
unusual approaches to meet needs only and responds to only very direct social approaches
Restricted, repetitive behaviors
Inflexibility of behavior, extreme difficulty coping with change, or other restricted/repetitive behaviors
markedly interfere with functioning in all spheres. Great distress/difficulty
 SOCIAL (PRAGMATIC) COMMUNICATION DISORDER
Social (Pragmatic) Communication Disorder (SCD) is a diagnosis characterized by impairment in
communication for social purposes. This diagnosis is given when an individual has difficulty using verbal
and/or nonverbal communication that is appropriate for the social context. Individuals with this disorder may
present with difficulties across a number of areas of social communication including:
         Social greetings, such as saying hello or introducing oneself
         Sharing personal information and general knowledge
         Modifying communication based on characteristics of the listener; for example, understanding that one
interacts differently with a young child versus an adult, and differently with a close friend versus an
acquaintance
         Taking turns in conversation, which includes difficulty responding to others in conversation, staying on
topic, or allowing the other person an opportunity to speak
         Changing communication to match the behavior of the listener or the context of the situation
         Using gestures in conversation, such as pointing or waving
         Understanding various forms of nonverbal communication
         Understanding aspects of verbal communication that are not explicitly stated; for example, difficulty
understanding implied and indirect uses of language, such as metaphors and humor
These challenges lead to impairment across a number of areas. In addition to having challenges connecting and
interacting with peers, these symptoms often cause challenges in educational and occupational functioning.
Social Communication Disorder (SCD) was introduced to the Diagnostic and Statistical Manual of Mental
Disorders (DSM) for the first time in the most recent update (DSM-5) in 2013. Prior to this time, individuals
who demonstrated these symptoms may not have been accurately diagnosed or identified. Before the
introduction of SCD into the DSM-5 some of the individuals who currently meet diagnostic criteria for this
disorder may have been classified as having Pervasive Developmental Disorder – Not Otherwise Specified or
Communication Disorder – Not Otherwise Specified.

1. Mental Illness
Anxiety Disorder
Attention Deficit Hyperactive Disorder
Eating Disorders
Mood Disorders
Obsessive Compulsive Disorder
Personality Disorder
Psychotic Disorders
Substance Abuse Disorders
Trauma-Related Disorders

Anxiety Disorder
TYPES OF ANXIETY DISORDERS
Generalized Anxiety Disorder - People with generalized anxiety disorder (GAD) display excessive anxiety or
worry, most days for at least 6 months, about a number of things such as personal health, work, social
interactions, and everyday routine life circumstances.
Generalized anxiety disorder symptoms include:
·         Feeling restless, wound-up, or on-edge
·         Being easily fatigued
·         Having difficulty concentrating; mind going blank
·         Being irritable
·         Having muscle tension
·         Difficulty controlling feelings of worry
·         Having sleep problems, such as difficulty falling or staying asleep, restlessness, or unsatisfying sleep

Panic Disorder
People with panic disorder have recurrent unexpected panic attacks. Panic attacks are sudden periods of intense
fear that come on quickly and reach their peak within minutes. Attacks can occur unexpectedly or can be
brought on by a trigger, such as a feared object or situation.
During a panic attack, people may experience:
·         Heart palpitations, a pounding heartbeat, or an accelerated heartrate
·         Sweating
·         Trembling or shaking
·         Sensations of shortness of breath, smothering, or choking
·         Feelings of impending doom
·         Feelings of being out of control

Phobia-related disorders
A phobia is an intense fear of—or aversion to—specific objects or situations. Although it can be realistic to be
anxious in some circumstances, the fear people with phobias feel is out of proportion to the actual danger
caused by the situation or object.
There are several types of phobias and phobia-related disorders:
Specific Phobias (sometimes called simple phobias): As the name suggests, people who have a specific
phobia have an intense fear of, or feel intense anxiety about, specific types of objects or situations.
Social anxiety disorder (previously called social phobia): People with social anxiety disorder have a general
intense fear of, or anxiety toward, social or performance situations. They worry that actions or behaviors
associated with their anxiety will be negatively evaluated by others, leading them to feel embarrassed. This
worry often causes people with social anxiety to avoid social situations. Social anxiety disorder can manifest in
a range of situations, such as within the workplace or the school environment.
Agoraphobia: People with agoraphobia have an intense fear of two or more of the following situations:
·         Using public transportation
·         Being in open spaces
·         Being in enclosed spaces
·         Standing in line or being in a crowd
·         Being outside of the home alone
People with agoraphobia often avoid these situations, in part, because they think being able to leave might be
difficult or impossible in the event they have panic-like reactions or other embarrassing symptoms. In the most
severe form of agoraphobia, an individual can become housebound.

Separation anxiety disorder: Separation anxiety is often thought of as something that only children deal with;
however, adults can also be diagnosed with separation anxiety disorder. People who have separation anxiety
disorder have fears about being parted from people to whom they are attached. They often worry that some sort
of harm or something untoward will happen to their attachment figures while they are separated. This fear leads
them to avoid being separated from their attachment figures and to avoid being alone. People with separation
anxiety may have nightmares about being separated from attachment figures or experience physical symptoms
when separation occurs or is anticipated.
Selective mutism: A somewhat rare disorder associated with anxiety is selective mutism. Selective mutism
occurs when people fail to speak in specific social situations despite having normal language skills. Selective
mutism usually occurs before the age of 5 and is often associated with extreme shyness, fear of social
embarrassment, compulsive traits, withdrawal, clinging behavior, and temper tantrums. People diagnosed with
selective mutism are often also diagnosed with other anxiety disorders.
TREATMENT
Different anxiety disorders have their own distinct sets of symptoms. This means that each type of anxiety
disorder also has its own treatment plan. But there are common types of treatment that are used. 

Psychotherapy
Cognitive Behavioral Therapy (CBT) is the most researched psychotherapy for anxiety disorders. In general,
CBT focuses on finding the counterproductive thinking patterns that contribute to anxiety. CBT offers many
constructive strategies to reduce the beliefs and behaviors that lead to anxiety.
CBT is also effective when delivered outside of the traditional in-person setting. Working with a therapist
using telehealth technology — like video or phone calls or online learning modules that teach CBT concepts
— can be just as effective as traditional face-to-face therapy.

Exposure Response Prevention is a psychotherapy for specific anxiety disorders like phobias and social
anxiety. Its aim is to help a person develop a more constructive response to a fear. The goal is for a person to
“expose” themselves to that which they fear, in an attempt to experience less anxiety over time and develop
effective coping tools.

Eating Disorders

TYPES OF EATING DISORDERS

Eating disorders are a group of related conditions that cause serious emotional and physical problems. Each
condition involves extreme food and weight issues; however, each has unique symptoms that separate it from
the others.
Anorexia Nervosa. People with anorexia will deny themselves food to the point of self-starvation as they
obsesses about weight loss. With anorexia, a person will deny hunger and refuse to eat, practice binge eating
and purging behaviors or exercise to the point of exhaustion as they attempts to limit, eliminate or “burn”
calories.
The body is forced to slow down to conserve energy causing irregularities or loss of menstruation, constipation
and abdominal pain, irregular heart rhythms, low blood pressure, dehydration and trouble sleeping. Some
people with anorexia might also use binge eating and purge behaviors, while others only restrict eating.

Bulimia Nervosa. People living with bulimia will feel out of control when binging on very large amounts of
food during short periods of time, and then desperately try to rid themselves of the extra calories using forced
vomiting, abusing laxatives or excessive exercise. This becomes a repeating cycle that controls many aspects of
the person’s life and has a very negative effect both emotionally and physically. People living with bulimia are
usually normal weight or even a bit overweight.
Like anorexia, bulimia will inflict physical damage. The binging and purging can severely harm the parts of the
body involved in eating and digesting food, teeth are damaged by frequent vomiting, and acid reflux is
common. Excessive purging can cause dehydration that effect the body’s electrolytes and leads to cardiac
arrhythmias, heart failure and even death.

Binge Eating Disorder (BED). A person with BED losses control over their eating and eats a very large
amount of food in a short period of time. They may also eat large amounts of food even when he isn't hungry or
after he is uncomfortably full. This causes them to feel embarrassed, disgusted, depressed or guilty about their
behavior.

Rumination disorder
Rumination disorder is repeatedly and persistently regurgitating food after eating, but it's not due to a medical
condition or another eating disorder such as anorexia, bulimia or binge-eating disorder. Food is brought back up
into the mouth without nausea or gagging, and regurgitation may not be intentional. Sometimes regurgitated
food is rechewed and reswallowed or spit out.

The disorder may result in malnutrition if the food is spit out or if the person eats significantly less to prevent
the behavior. The occurrence of rumination disorder may be more common in infancy or in people who have an
intellectual disability.
Avoidant/restrictive food intake disorder
This disorder is characterized by failing to meet your minimum daily nutrition requirements because you don't
have an interest in eating; you avoid food with certain sensory characteristics, such as color, texture, smell or
taste; or you're concerned about the consequences of eating, such as fear of choking. Food is not avoided
because of fear of gaining weight.

Eating Disorders Not Otherwise Specified (EDNOS):People with EDNOS suffer some symptoms of the
above disorders but do not fit all the criteria to be diagnosed with anorexia, bulimia or binge-eating disorder.
For instance someone suffering from atypical anorexiamay be avoiding food for a long period of time but may
not be severely underweight. Another example would be of a person who purges after eating even small
amounts of food while maintaining a healthy weight.
Obsessive Compulsive Disorder
Obsessions
Many people with OCD recognize that the thoughts, impulses, or images are a product of their mind and are
excessive or unreasonable. Yet these intrusive thoughts cannot be settled by logic or reasoning. Most people
with OCD try to ignore or suppress such obsessions or offset them with some other thought or action. Typical
obsessions include excessive concerns about contamination or harm, the need for symmetry or exactness, or
forbidden sexual or religious thoughts.

Compulsions
Compulsions are repetitive behaviors or mental acts that a person feels driven to perform in response to an
obsession. The behaviors are aimed at preventing or reducing distress or a feared situation. In the most severe
cases, a constant repetition of rituals may fill the day, making a normal routine impossible. Compounding the
anguish these rituals cause is the knowledge that the compulsions are irrational. Although the compulsion may
bring some relief to the worry, the obsession returns and the cycle repeats over and over.

SIGNS AND SYMPTOMS

Just because you have obsessive thoughts or perform compulsive behaviors does NOT mean that you have
obsessive-compulsive disorder. With OCD, these thoughts and behaviors cause tremendous distress, take up a
lot of time (at least one hour per day), and interfere with your daily life and relationships.
Most people with obsessive-compulsive disorder have both obsessions and compulsions, but some people
experience just one or the other.

Common obsessive thoughts in OCD include:

·Fear of being contaminated by germs or dirt or contaminating others
·Fear of losing control and harming yourself or others
·Intrusive sexually explicit or violent thoughts and images
·Excessive focus on religious or moral ideas
·Fear of losing or not having things you might need
·Order and symmetry: the idea that everything must line up “just right”
·Superstitions; excessive attention to something considered lucky or unlucky

Common compulsive behaviors in OCD include:

·Excessive double-checking of things, such as locks, appliances, and switches
·Repeatedly checking in on loved ones to make sure they’re safe
·Counting, tapping, repeating certain words, or doing other senseless things to reduce anxiety
·Spending a lot of time washing or cleaning
·Ordering or arranging things “just so”
·Praying excessively or engaging in rituals triggered by religious fear
·Accumulating “junk” such as old newspapers or empty food containers
Not all rituals or habits are compulsions. Everyone double checks things sometimes. But a person with OCD
generally:
·       Can't control his or her thoughts or behaviors, even when those thoughts or behaviors are recognized as
excessive
·       Spends at least 1 hour a day on these thoughts or behaviors
·       Doesn’t get pleasure when performing the behaviors or rituals, but may feel brief relief from the anxiety
the thoughts cause
·       Experiences significant problems in their daily life due to these thoughts or behaviors

Some individuals with OCD also have a tic disorder. Motor tics are sudden, brief, repetitive movements, such
as eye blinking and other eye movements, facial grimacing, shoulder shrugging, and head or shoulder jerking.

Personality Disorder
A personality disorder is a type of mental disorder in which you have a rigid and unhealthy pattern of thinking,
functioning and behaving. A person with a personality disorder has trouble perceiving and relating to situations
and people. This causes significant problems and limitations in relationships, social activities, work and school.
In some cases, you may not realize that you have a personality disorder because your way of thinking and
behaving seems natural to you. And you may blame others for the challenges you face. Personality disorders
usually begin in the teenage years or early adulthood. There are many types of personality disorders. Some
types may become less obvious throughout middle age.

TYPES AND SYMPTOMS OF PERSONALITY DISORDERS

Cluster A personality disorders

Cluster A personality disorders are characterized by odd, eccentric thinking or behavior. They include paranoid
personality disorder, schizoid personality disorder and schizotypal personality disorder.

Paranoid personality disorder: a pattern of being suspicious of others and seeing them as mean or spiteful.
People with paranoid personality disorder often assume people will harm or deceive them and don’t confide in
others or become close to them.
ü  Pervasive distrust and suspicion of others and their motives
ü  Unjustified belief that others are trying to harm or deceive you
ü  Unjustified suspicion of the loyalty or trustworthiness of others
ü  Hesitancy to confide in others due to unreasonable fear that others will use the information against you
ü  Perception of innocent remarks or nonthreatening situations as personal insults or attacks
ü  Angry or hostile reaction to perceived slights or insults
ü  Tendency to hold grudges
ü  Unjustified, recurrent suspicion that spouse or sexual partner is unfaithful

Schizoid personality disorder: being detached from social relationships and expressing little emotion. A
person with schizoid personality disorder typically does not seek close relationships, chooses to be alone and
seems to not care about praise or criticism from others.
ü  Lack of interest in social or personal relationships, preferring to be alone
ü  Limited range of emotional expression
ü  Inability to take pleasure in most activities
ü  Inability to pick up normal social cues
ü  Appearance of being cold or indifferent to others
ü  Little or no interest in having sex with another person

Schizotypal personality disorder: a pattern of being very uncomfortable in close relationships, having
distorted thinking and eccentric behavior. A person with schizotypal personality disorder may have odd beliefs
or odd or peculiar behavior or speech or may have excessive social anxiety.
ü  Peculiar dress, thinking, beliefs, speech or behavior
ü  Odd perceptual experiences, such as hearing a voice whisper your name
ü  Flat emotions or inappropriate emotional responses
ü  Social anxiety and a lack of or discomfort with close relationships
ü  Indifferent, inappropriate or suspicious response to others
ü  "Magical thinking" — believing you can influence people and events with your thoughts
ü  Belief that certain casual incidents or events have hidden messages meant only for you

Cluster B personality disorders

Cluster B personality disorders are characterized by dramatic, overly emotional or unpredictable thinking or
behavior. They include antisocial personality disorder, borderline personality disorder, histrionic personality
disorder and narcissistic personality disorder.

Antisocial personality disorder: a pattern of disregarding or violating the rights of others. A person with
antisocial personality disorder may not conform to social norms, may repeatedly lie or deceive others, or may
act impulsively.
ü  Disregard for others' needs or feelings
ü  Persistent lying, stealing, using aliases, conning others
ü  Recurring problems with the law
ü  Repeated violation of the rights of others
ü  Aggressive, often violent behavior
ü  Disregard for the safety of self or others
ü  Impulsive behavior
ü  Consistently irresponsible
ü  Lack of remorse for behavior

Borderline personality disorder: a pattern of instability in personal relationships, intense emotions, poor self-
image and impulsivity. A person with borderline personality disorder may go to great lengths to avoid being
abandoned, have repeated suicide attempts, display inappropriate intense anger or have ongoing feelings of
emptiness.
ü  Impulsive and risky behavior, such as having unsafe sex, gambling or binge eating
ü  Unstable or fragile self-image
ü  Unstable and intense relationships
ü  Up and down moods, often as a reaction to interpersonal stress
ü  Suicidal behavior or threats of self-injury
ü  Intense fear of being alone or abandoned
ü  Ongoing feelings of emptiness
ü  Frequent, intense displays of anger
ü  Stress-related paranoia that comes and goes

Histrionic personality disorder: a pattern of excessive emotion and attention seeking. People with histrionic
personality disorder may be uncomfortable when they are not the center of attention, may use physical
appearance to draw attention to themselves or have rapidly shifting or exaggerated emotions.
ü  Constantly seeking attention
ü  Excessively emotional, dramatic or sexually provocative to gain attention
ü  Speaks dramatically with strong opinions, but few facts or details to back them up
ü  Easily influenced by others
ü  Shallow, rapidly changing emotions
ü  Excessive concern with physical appearance
ü  Thinks relationships with others are closer than they really are

Narcissistic personality disorder: a pattern of need for admiration and lack of empathy for others. A person
with narcissistic personality disorder may have a grandiose sense of self-importance, a sense of entitlement,
take advantage of others or lack empathy.
ü  Belief that you're special and more important than others
ü  Fantasies about power, success and attractiveness
ü  Failure to recognize others' needs and feelings
ü  Exaggeration of achievements or talents
ü  Expectation of constant praise and admiration
ü  Arrogance
ü  Unreasonable expectations of favors and advantages, often taking advantage of others
ü  Envy of others or belief that others envy you
Cluster C personality disorders
Cluster C personality disorders are characterized by anxious, fearful thinking or behavior. They include
avoidant personality disorder, dependent personality disorder and obsessive-compulsive personality disorder.

Avoidant personality disorder: a pattern of extreme shyness, feelings of inadequacy and extreme sensitivity to
criticism. People with avoidant personality disorder may be unwilling to get involved with people unless they
are certain of being liked, be preoccupied with being criticized or rejected, or may view themselves as not being
good enough or socially inept.
ü  Too sensitive to criticism or rejection
ü  Feeling inadequate, inferior or unattractive
ü  Avoidance of work activities that require interpersonal contact
ü  Socially inhibited, timid and isolated, avoiding new activities or meeting strangers
ü  Extreme shyness in social situations and personal relationships
ü  Fear of disapproval, embarrassment or ridicule
Dependent personality disorder: a pattern of needing to be taken care of and submissive and clingy behavior.
People with dependent personality disorder may have difficulty making daily decisions without reassurance
from others or may feel uncomfortable or helpless when alone because of fear of inability to take care of
themselves.
ü  Excessive dependence on others and feeling the need to be taken care of
ü  Submissive or clingy behavior toward others
ü  Fear of having to provide self-care or fend for yourself if left alone
ü  Lack of self-confidence, requiring excessive advice and reassurance from others to make even small
decisions
ü  Difficulty starting or doing projects on your own due to lack of self-confidence
ü  Difficulty disagreeing with others, fearing disapproval
ü  Tolerance of poor or abusive treatment, even when other options are available
ü  Urgent need to start a new relationship when a close one has ended

Obsessive-compulsive personality disorder: a pattern of preoccupation with orderliness, perfection and

control. A person with obsessive-compulsive personality disorder may be overly focused on details or
schedules, may work excessively not allowing time for leisure or friends, or may be inflexible in their morality
and values. (This is NOT the same as obsessive compulsive disorder.)
ü  Preoccupation with details, orderliness and rules
ü  Extreme perfectionism, resulting in dysfunction and distress when perfection is not achieved, such as feeling
unable to finish a project because you don't meet your own strict standards
ü  Desire to be in control of people, tasks and situations, and inability to delegate tasks
ü  Neglect of friends and enjoyable activities because of excessive commitment to work or a project
ü  Inability to discard broken or worthless objects
ü  Rigid and stubborn
ü  Inflexible about morality, ethics or values
ü  Tight, miserly control over budgeting and spending money

Psychotic Disorders
Psychotic disorders are mental disorders in which a person’s personality is severely confused and that person
loses touch with reality. When a psychotic episode occurs, a person becomes unsure about what is real and what
isn’t real and usually experiences hallucinations, delusions, off-the-wall behavior, chaotic speech and
incoherency. A person behaving in this manner is often referred to as being schizophrenic.
When symptoms are severe, people with psychotic disorders have trouble staying in touch with reality and
often are unable to handle daily life. But even severe psychotic disorders usually can be treated.
PSYCHOSIS
Psychosis includes a range of symptoms but typically involves one of these two major experiences:
Hallucinations are seeing, hearing or feeling things that aren’t there, such as the following:
 Hearing voices (auditory hallucinations)
 Strange sensations or unexplainable feelings
  Seeing glimpses of objects or people that are not there or distortions

Delusions are strong beliefs that are not consistent with the person’s culture, are unlikely to be true and may
seem irrational to others, such as the following:
 Believing external forces are controlling thoughts, feelings and behaviors
 Believing that trivial remarks, events or objects have personal meaning or significance
 Thinking you have special powers, are on a special mission or even that you are God.

TYPES
There are different types of psychotic disorders, including:
·       Schizophrenia: People with this illness have changes in behavior and other symptoms -- such as delusions
and hallucinations -- that last longer than 6 months. It usually affects them at work or school, as well as their
relationships.
·       Schizoaffective disorder: People have symptoms of both schizophrenia and a mood disorder, such as
depression or bipolar disorder.
·       Schizophreniform disorder: This includes symptoms of schizophrenia, but the symptoms last for a
shorter time: between 1 and 6 months.
·       Brief psychotic disorder: People with this illness have a sudden, short period of psychotic behavior, often
in response to a very stressful event, such as a death in the family. Recovery is often quick -- usually less than a
month.
·       Delusional disorder : The key symptom is having a delusion (a false, fixed belief) involving a real-life
situation that could be true but isn't, such as being followed, being plotted against, or having a disease. The
delusion lasts for at least 1 month.
·       Shared psychotic disorder (also called folie à deux): This illness happens when one person in a
relationship has a delusion and the other person in the relationship adopts it, too.
·       Substance-induced psychotic disorder: This condition is caused by the use of or withdrawal from drugs,
such as hallucinogens and crack cocaine, that cause hallucinations, delusions, or confused speech.
·       Psychotic disorder due to another medical condition: Hallucinations, delusions, or other symptoms
may happen because of another illness that affects brain function, such as a head injury or brain tumor.
·       Paraphrenia: This condition has symptoms similar to schizophrenia. It starts late in life, when people are
elderly.
·       Bipolar psychosis – individuals have the symptoms of bipolar disorder (intense highs and lows in mood)
and also experience episodes of psychosis. The psychosis more commonly occurs during manic phases.
·       Psychotic depression – also known as major depressive disorder with psychotic features.
·       Postpartum (also called postnatal) psychosis – a severe form of postnatal depression.

SIGNS OF EARLY OR FIRST-EPISODE PSYCHOSIS

Determining exactly when the first episode of psychosis begins can be hard, but these signs and symptoms
strongly indicate an episode of psychosis:
 Hearing, seeing, tasting or believing things that others don’t
  Persistent, unusual thoughts or beliefs that can’t be set aside regardless of what others believe
 Strong and inappropriate emotions or no emotions at all
 Withdrawing from family or friends
 A sudden decline in self-care
 Trouble thinking clearly or concentrating
Such warning signs often point to a person’s deteriorating health, and a physical and neurological evaluation
can help find the problem. A mental health professional performing a psychological evaluation can determine if
a mental health condition is involved and discuss next steps. If the psychosis is a symptom of a mental health
condition, early action helps to keep lives on track.
Other possible symptoms of psychotic illnesses include:
 Disorganized or incoherent speech
 Confused thinking
 Strange, possibly dangerous behavior
 Slowed or unusual movements
 Loss of interest in personal hygiene
 Loss of interest in activities
 Problems at school or work and with relationships
 Cold, detached manner with the inability to express emotion
 Mood swings or other mood symptoms, such as depression or mania
People don’t always have the same symptoms, and they can change over time in the same person.
DISABILITY CAUSED DUE TO – CHROIC NEUROLOGICAL CONDITIONS &BLOOD
CONDITIONS

Introduction to Chronic Neurological Disability

INTRODUCTION
A lot of people feel confused about which diseases are covered under the umbrella term Chronic Neurological
Conditions. India’s RPWD Act 2016 mentions Chronic Neurological Conditions as one of the recognized
disabilities. In order to provide a meaning or definition of these conditions, the guidelines give examples
of Multiple Sclerosis and Parkinson’s disease.

Definition and Meaning of Chronic Neurological Conditions

The 4th July 2018 notification of the Ministry of Social Justice and Empowerment give definition as below:

Chronic neurological conditions, such as—

(i) “multiple sclerosis” means an inflammatory, nervous system disease in which the myelin sheaths around the
axons of nerve cells of the brain and spinal cord are damaged, leading to demyelination and affecting the ability
of nerve cells in the brain and spinal cord to communicate with each other;

(ii) “Parkinson’s disease” means a progressive disease of the nervous system marked by tremor, muscular
rigidity, and slow, imprecise movement, chiefly affecting middle-aged and elderly people associated with
degeneration of the basal ganglia of the brain and a deficiency of the neurotransmitter dopamine.

But MS and PD have been cited only as examples.

Neurological disorders are diseases of the central and peripheral nervous system. In other words, the brain,
spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction,
and muscles. These disorders include epilepsy, Alzheimer disease and other dementias, cerebrovascular
diseases including stroke, migraine and other headache disorders, multiple sclerosis, Parkinson's disease,
neuroinfections, brain tumours, traumatic disorders of the nervous system due to head trauma, and neurological
disorders as a result of malnutrition.

Many bacterial (i.e. Mycobacterial tuberculosis, Neisseria meningitides), viral (i.e. Human Immunodeficiency
Virus (HIV), Enteroviruses, West Nile Virus, Zika), fungal (i.e. Cryptococcus, Aspergillus), and parasitic (i.e.
malaria, Chagas) infections can affect the nervous system. Neurological symptoms may occur due to the
infection itself, or due to an immune response.

TYPES OF CHRONIC NEUROLOGICAL CONDITIONS

There are other conditions that can be categorized under Chronic Neurological Conditions. Some more
examples can be:
1.    Alzheimer’s disease and Dementia
2.    Parkinson’s disease
3.    Dystonia
4.    ALS (Lou Gehrig’s disease)
5.    Huntington’s disease
6.    Neuromuscular disease
7.    Multiple sclerosis
8.    Epilepsy
9.    Stroke

ALZHEIMER’S DISEASE AND OTHER DEMENTIAS

Dementia is a deterioration of intellectual function and other cognitive skills that is of sufficient severity to
interfere with social or occupational functioning. Of the many diseases that lead to dementia. Although
distinguishing AD from other causes of dementia is important, particularly for treatment with
acetylcholinesterase inhibitors, the burden from all causes of dementia is similar.
In the early stages of Alzheimer's disease, memory loss is mild, but in its late-stage, individuals lose the ability
to complete daily tasks, carry on a conversation, and respond to their environment. Alzheimer's disease is the
sixth leading cause of death in the United States. Those with Alzheimer's disease live an average of eight years
after their symptoms become noticeable. However, depending on age and other health conditions, survival can
range from four to 20 years.

PARKINSON’S DISEASE
PD is characterized by bradykinesia, resting tremor, cogwheel rigidity, postural reflex impairment, progressive
course, and good response to dopaminergic therapy. Other distinct forms of parkinsonism include relatively rare
genetic forms and the less common neurodegenerations with multiple system involvement or significant striatal
lesions (for example, progressive supranuclear palsy or multiple system atrophy). Parkinsonism secondary to
external causes, such as manganese poisoning or carbon monoxide poisoning, although now rare, is referred to
as secondary parkinsonism. Because the burden of these diseases to the patient is similar to or greater than that
for PD and there is no evidence for addressing these disorders separately, they will not be distinguished here.
Parkinson's signs and symptoms may include:

·         Tremor. A tremor, or shaking, usually begins in a limb, often your hand or fingers. You may a rub your
thumb and forefinger back-and-forth, known as a pill-rolling tremor. Your hand may tremor when it's at rest.
·         Slowed movement (bradykinesia). Over time, Parkinson's disease may slow your movement, making
simple tasks difficult and time-consuming. Your steps may become shorter when you walk. It may be difficult
to get out of a chair. You may drag your feet as you try to walk.
·         Rigid muscles. Muscle stiffness may occur in any part of your body. The stiff muscles can be painful
and limit your range of motion.
·         Impaired posture and balance. Your posture may become stooped, or you may have balance problems
as a result of Parkinson's disease.
·         Loss of automatic movements. You may have a decreased ability to perform unconscious movements,
including blinking, smiling or swinging your arms when you walk.
·         Speech changes. You may speak softly, quickly, slur or hesitate before talking. Your speech may be
more of a monotone rather than with the usual inflections.
·         Writing changes. It may become hard to write, and your writing may appear small.

Causes and Risk Factors

The cause of PD is unknown. A specific environmental risk factor has not been identified. Pure genetic forms
account for 10 to 15 percent of cases or fewer. Increasing age and male gender are risk factors worldwide.
Exposure to toxins, head trauma, frequent infections, diets high in animal fat, and midlife adiposity have been
reported to increase PD risk, but none do so consistently. The most consistent association is an inverse
association with cigarette smoking and caffeine consumption, suggesting a protective effect.

EPILEPSY
Epilepsy is a common brain disorder characterized by two or more unprovoked seizures. Seizures are discrete
events caused by transient, hypersynchronous, abnormal neuronal activity. Seizures may occur in close
temporal association with a variety of acute medical and neurological diseases, such as acute stroke, sepsis, or
alcohol withdrawal. However, the vast majority of seizures have no immediate identifiable cause. Epilepsy can
be broadly divided into three categories: idiopathic epilepsy (for example primary generalized childhood-onset
absence epilepsy), which is thought to have a genetic basis; secondary or symptomatic epilepsy, which is
caused by a known central nervous system injury or disorder, such as infection, stroke, traumatic brain injury,
or cerebral dysgenesis; and cryptogenic epilepsy, for which there is no clear evidence of an etiological factor.
Idiopathic and cryptogenic cases represent approximately 70 percent of epilepsy cases; the remaining 30
percent are symptomatic (secondary). Seizures are the main symptom of epilepsy. Symptoms differ from person
to person and according to the type of seizure.
Focal seizures
When seizures appear to result from abnormal activity in just one area of your brain, they're called focal
(partial) seizures. These seizures fall into two categories:

·         Focal seizures without loss of consciousness. Once called simple partial seizures, these seizures don't
cause a loss of consciousness. They may alter emotions or change the way things look, smell, feel, taste or
sound. They may also result in involuntary jerking of a body part, such as an arm or leg, and spontaneous
sensory symptoms such as tingling, dizziness and flashing lights.

·         Focal seizures with impaired awareness. Once called complex partial seizures, these seizures involve a
change or loss of consciousness or awareness. During a complex partial seizure, you may stare into space and
not respond normally to your environment or perform repetitive movements, such as hand rubbing, chewing,
swallowing or walking in circles.
Symptoms of focal seizures may be confused with other neurological disorders, such as migraine, narcolepsy or
mental illness. A thorough examination and testing are needed to distinguish epilepsy from other disorders.

Generalized seizures
Seizures that appear to involve all areas of the brain are called generalized seizures. Six types of generalized
seizures exist.
·         Absence seizures. Absence seizures, previously known as petit mal seizures, often occur in children and
are characterized by staring into space or subtle body movements such as eye blinking or lip smacking. These
seizures may occur in clusters and cause a brief loss of awareness.
·         Tonic seizures. Tonic seizures cause stiffening of your muscles. These seizures usually affect muscles in
your back, arms and legs and may cause you to fall to the ground.
·         Atonic seizures. Atonic seizures, also known as drop seizures, cause a loss of muscle control, which may
cause you to suddenly collapse or fall down.
·         Clonic seizures. Clonic seizures are associated with repeated or rhythmic, jerking muscle movements.
These seizures usually affect the neck, face and arms.
·         Myoclonic seizures. Myoclonic seizures usually appear as sudden brief jerks or twitches of your arms
and legs.
·         Tonic-clonic seizures. Tonic-clonic seizures, previously known as grand mal seizures, are the most
dramatic type of epileptic seizure and can cause an abrupt loss of consciousness, body stiffening and shaking,
and sometimes loss of bladder control or biting your tongue.

STROKE
Stroke, also known as cerebrovascular accident or brain attack, is a syndrome caused by an interruption in the
flow of blood to part of the brain caused either by occlusion of a blood vessel (ischemic stroke) or rupture of a
blood vessel (hemorrhagic stroke). The interruption in blood flow deprives the brain of nutrients and oxygen,
resulting in injury to cells in the affected vascular territory of the brain. The occlusion of a blood vessel can
sometimes be temporary and present as a reversible neurological deficit, which is termed a transient ischemic
attack. Even though stroke is a clinical diagnosis, brain imaging is required to distinguish ischemic stroke from
hemorrhagic stroke. When imaging is unavailable, clinical scores can be useful to identify patients with
intracerebral hemorrhage. Stroke symptoms can include:

 paralysis

 numbness or weakness in the arm, face, and leg, especially on one side of the body

 trouble speaking or understanding speech

 confusion

 slurring speech

 vision problems, such as trouble seeing in one or both eyes with vision blackened or blurred, or double
vision

 trouble walking

 loss of balance or coordination

 dizziness

 severe, sudden headache with an unknown cause

Types of stroke
Strokes fall into three main categories: transient ischemic attack (TIA), ischemic stroke, and hemorrhagic
stroke. These categories are further broken down into other types of strokes, including:
ü  embolic stroke
ü  thrombotic stroke
ü  intracerebral stroke
ü  subarachnoid stroke

·       Ischemic stroke

During an ischemic stroke, the arteries supplying blood to the brain narrow or become blocked. These
blockages are caused by blood clots or blood flow that’s severely reduced. They can also be caused by pieces of
plaque due to atherosclerosis breaking off and blocking a blood vessel. The two most common types of
ischemic strokes are thrombotic and embolic. A thrombotic stroke happens when a blood clot forms in one of
the arteries supplying blood to the brain. The clot passes through the bloodstream and becomes lodged, which
blocks blood flow. An embolic stroke is when a blood clot or other debris forms in another part of the body and
then travels to the brain.
·       Embolic stroke
An embolic stroke is one of two types of ischemic strokes. It occurs when a blood clot forms in another part of
the body — often the heart or arteries in the upper chest and neck — and moves through the bloodstream to the
brain. The clot gets stuck in the brain’s arteries, where it stops the flow of blood and causes a stroke. An
embolic stroke may be the result of a heart condition. Atrial fibrillation, a common type of irregular heartbeat,
can cause blood clots to develop in the heart. These clots may dislodge and travel through the bloodstream and
into the brain. 

·       Transient ischemic attack (TIA)

A transient ischemic attack, often called a TIA or ministroke, occurs when blood flow to the brain is blocked
temporarily. Symptoms, which are similar to those of a full stroke, are typically temporary and disappear after a
few minutes or hours. A TIA is usually caused by a blood clot. It serves as a warning of a future stroke, so don’t
ignore a TIA. According to the CDC, more than one-third of people who experience a TIA and don’t get
treatment have a major stroke within a year. Up to 10 to 15 percent of people who experience a TIA have a
major stroke within three months.

MULTIPLE SECLEROSIS
Multiple sclerosis (MS) is an inflammatory demyelinating condition of the central nervous system (CNS) that is
generally considered to be autoimmune in nature. In people with MS, the immune trigger is unknown, but the
targets are myelinated CNS tracts. In regions of inflammation, breakdown of the blood–brain barrier occurs and
destruction of myelin ensues, with axonal damage, gliosis and the formation of sclerotic plaques. Plaques (MS
lesions) may form in the CNS white matter in any location (and also in grey matter); thus, clinical presentations
may be diverse. Continuing lesion formation in MS often leads to physical disability and, not infrequently, to
cognitive decline. Multiple sclerosis signs and symptoms may differ greatly from person to person and over the
course of the disease depending on the location of affected nerve fibers. Symptoms often affect movement, such
as:
·         Numbness or weakness in one or more limbs that typically occurs on one side of your body at a time, or
your legs and trunk
·         Electric-shock sensations that occur with certain neck movements, especially bending the neck forward
(Lhermitte sign)
·         Tremor, lack of coordination or unsteady gait
Vision problems are also common, including:
·         Partial or complete loss of vision, usually in one eye at a time, often with pain during eye movement
·         Prolonged double vision
·         Blurry vision
Multiple sclerosis symptoms may also include:
·         Slurred speech
·         Fatigue
·         Dizziness
·         Tingling or pain in parts of your body
·         Problems with sexual, bowel and bladder function
Types of MS
There are four types of MS:
Clinically isolated syndrome (CIS): This is a single, first episode, with symptoms lasting at least 24 hours. If
another episode occurs at a later date, a doctor will diagnose relapse-remitting MS.
Relapse-remitting MS (RRMS): This is the most common form, affecting around 85% of people with
MS. RRMS involves episodes of new or increasing symptoms, followed by periods of remission, during which
symptoms go away partially or totally.
Primary progressive MS (PPMS): Symptoms worsen progressively, without early relapses or remissions.
Some people may experience times of stability and periods when symptoms worsen and then get better. Around
15% of people with MS have PPMS.
Secondary progressive MS (SPMS): At first, people will experience episodes of relapse and remission, but
then the disease will start to progress steadily.

DYSTONIA
Dystonia is a very complex, highly variable neurological movement disorder characterized by involuntary
muscle contractions. Dystonia results from abnormal functioning of the basal ganglia, a deep part of the brain
which helps control coordination of movement. These regions of the brain control the speed and fluidity of
movement and prevent unwanted movements. Patients with dystonia may experience uncontrollable twisting,
repetitive movements or abnormal postures and positions. These can affect any part of the body, including the
arms, legs, trunk, face and vocal cords.
Depending on the part of the body affected, dystonia can seriously impact daily functions. For example, if neck
muscles are affected, a patient may have difficulty chewing and swallowing. Though not life-threatening, the
involuntary nature of the disorder may be embarrassing, causing emotional distress or depression in some
individuals. There are a number of local support groups throughout the United States that can help address
some of these issues, but patients may need to be treated separately for mental health issues caused by the
challenges of coping with this disorder.

Dystonia Classification by Age

·         Childhood onset – 0 to age 12
·         Adolescent onset – age 13 to 20
·         Adult onset – older than age 20

Dystonia Classification by Body Part

Focal Dystonia
Focal dystonia is limited to one area of the body and can affect the neck (cervical dystonia or spasmodic
torticollis), eyes (blepharospasm), jaw/mouth/lower face (oromandibular dystonia), vocal cords (laryngeal
dystonia) or arms/legs (limb dystonia). Other less common types of focal dystonias can cause unusual
stretching, bending or twisting of the trunk (truncal dystonia) or sustained contractions and involuntary,
writhing movements of the abdominal wall (abdominal wall dystonia).
Focal dystonia more commonly affects people in their 40s and 50s and is frequently referred to as adult-onset
dystonia. Women are affected about three times more frequently than men. In general, focal dystonias are
classified as primary (idiopathic) and are not hereditary.
Segmental Dystonia
Segmental dystonia affects two or more parts of the body that are adjacent or close to one another. Up to 30
percent of people with focal dystonia have spasms in areas adjacent to the primary site. A common form of
segmental dystonia affects the eyelids, jaw, mouth and lower face.
Other types of dystonia include multifocal, which involves two or more body parts distant from one another;
hemidystonia, which affects half of the body; and generalized, which begins with leg involvement, but
generally spreads to one or more additional regions of the body.

ALS (LOU GEHRIG’S DISEASE)

ALS, or amyotrophic lateral sclerosis, is a progressive neurodegenerative disease that affects nerve cells in the
brain and the spinal cord. A-myo-trophic comes from the Greek language. "A" means no. "Myo" refers to
muscle, and "Trophic" means nourishment – "No muscle nourishment." When a muscle has no nourishment, it
"atrophies" or wastes away. "Lateral" identifies the areas in a person's spinal cord where portions of the nerve
cells that signal and control the muscles are located. As this area degenerates, it leads to scarring or hardening
("sclerosis") in the region.
Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the
body. The progressive degeneration of the motor neurons in ALS eventually leads to their demise. When the
motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary
muscle action progressively affected, people may lose the ability to speak, eat, move and breathe. The motor
nerves that are affected when you have ALS are the motor neurons that provide voluntary movements and
muscle control. Examples of voluntary movements are making the effort to reach for a smart phone or step off a
curb. These actions are controlled by the muscles in the arms and legs. Signs and symptoms might include:
·         Difficulty walking or doing normal daily activities
·         Tripping and falling
·         Weakness in your leg, feet or ankles
·         Hand weakness or clumsiness
·         Slurred speech or trouble swallowing
·         Muscle cramps and twitching in your arms, shoulders and tongue
·         Inappropriate crying, laughing or yawning
·         Cognitive and behavioral changes

HUNTINGTON’S DISEASE
Huntington’s disease (HD) is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the
brain. It deteriorates a person’s physical and mental abilities usually during their prime working years and has
no cure. HD is known as the quintessential family disease because every child of a parent with HD has a 50/50
chance of inheriting the faulty gene. The symptoms of HD are described as having ALS, Parkinson’s and
Alzheimer’s – simultaneously.
Symptoms usually appear between the ages of 30 to 50, and worsen over a 10 to 25-year period. Ultimately, the
weakened individual succumbs to pneumonia, heart failure or other complications. Everyone has the gene that
causes HD, but only those that inherit the expansion of the gene will develop HD and perhaps pass it on to each
of their children. Every person who inherits the expanded HD gene will eventually develop the disease. Over
time, HD affects the individual’s ability to reason, walk and speak.
·       Personality changes, mood swings & depression
·       Forgetfulness & impaired judgment
·       Unsteady gait & involuntary movements (chorea)
·       Slurred speech, difficulty in swallowing & significant weight loss
Causes
Huntington's disease is caused by an inherited defect in a single gene. Huntington's disease is an autosomal
dominant disorder, which means that a person needs only one copy of the defective gene to develop the
disorder.
With the exception of genes on the sex chromosomes, a person inherits two copies of every gene — one copy
from each parent. A parent with a defective gene could pass along the defective copy of the gene or the healthy
copy. Each child in the family, therefore, has a 50% chance of inheriting the gene that causes the genetic
disorder.

NEUROMUSCULAR DISEASE

Neuromuscular disease is a broad term that encompasses many diseases and ailments that impair the
functioning of the muscles. These may directly involve the muscle directly or indirectly by involving the nerves
or the Neuromuscular junction (the meeting point of the motor nerves and muscle fibre). The symptoms of
Neuromuscular diseases may include- Numbness, painful abnormal sensation, muscle weakness, muscle
atrophy, muscle pain or twitching (fasciculation). The Neuromuscular diseases may be categorised into the
following groups:
·         Diseases of Anterior Horn Cells (Junction between spinal cord and motor nerve) – Motor Neurone
Diseases
·         Diseases involving motor and sensory nerves – Peripheral Neuropathies
·         Disorders of the Neuromuscular function – Myasthenia Gravis and related diseases
·         Diseases of the muscles (Myopathies)- Muscular Dystrophy and Inflammatory myopathies

Neuromuscular disorders can be inherited or caused by a spontaneous gene mutation; some also may be caused
by immune system disorders.
 
(a). Multiple Sclerosis
INTRODUCTION
Multiple Sclerosis (often referred to as MS) is a disabling disease that affects Central Nervous System (CNS). It
inhibits the flow of information within the brain and between brain and various body parts. The cause of MS
remains unknown so far. Women are more likely to develop MS symptoms than men. There is no known cure
for MS at present but treatment can help in dealing with symptoms. MS is not life-threatening.
it is an autoimmune disorder that affects the central nervous system (CNS). When a person has an autoimmune
disease, the immune system attacks healthy tissue, just as it might attack a virus or bacteria.
In the case of MS, the immune system attacks the myelin sheath that surrounds and protects the nerve fibers,
causing inflammation. Myelin also helps the nerves conduct electrical signals quickly and efficiently.
Multiple sclerosis means “scar tissue in multiple areas.”
When the myelin sheath disappears or sustains damage in multiple areas, it leaves a scar, or sclerosis. Doctors
also call these areas plaques or lesions. They mainly affect:

 the brain stem

  the cerebellum, which coordinates movement and controls balance

 the spinal cord

 the optic nerves

 white matter in some regions of the brain

As more lesions develop, nerve fibers can break or become damaged. As a result, the electrical impulses from
the brain do not flow smoothly to the target nerve. This means that the body cannot carry out certain functions.

TYPES OF MULTIPLE SCLEROSIS

Clinically isolated syndrome (CIS)
Clinically isolated syndrome (CIS) is one of the MS disease courses. CIS refers to a first episode of neurologic
symptoms that lasts at least 24 hours and is caused by inflammation or demyelination (loss of the myelin that
covers the nerve cells) in the central nervous system (CNS). CIS can be either monofocal or multifocal:
 Monofocal episode: The person experiences a single neurologic sign or symptom — for example, an
attack of optic neuritis — that is caused by a single lesion.
 Multifocal episode: The person experiences more than one sign or symptom — for example, an attack
of optic neuritis accompanied by numbness or tingling in the legs — caused by lesions in more than one
place.
The episode usually has no associated fever or infection and is followed by a complete or partial recovery. 

SYMPTOMS
The most common symptoms of MS are:
 Muscle weakness: People may develop weak muscles due to lack of use or stimulation due to nerve
damage.
 Numbness and tingling: A pins and needles-type sensation is one of the earliest symptoms of MS that
can affect the face, body, or arms and legs.
 Lhermitte’s sign: A person may experience a sensation like an electric shock when they move their
neck, known as Lhermitte’s sign.
 Bladder problems: A person may have difficulty emptying their bladder or need to urinate frequently
or suddenly (urge incontinence). Loss of bladder control is an early sign of MS.
 Bowel problems: Constipation can cause fecal impaction, which can lead to bowel incontinence.
 Fatigue: This can undermine a person’s ability to function at work or at home. Fatigue is one of the
most common symptoms of MS.
 Dizziness and vertigo: These are common problems, along with balance and coordination issues.
 Sexual dysfunction: Both males and females may lose interest in sex.
 Spasticity and muscle spasms: This is an early sign of MS. Damaged nerve fibers in the spinal cord
and brain can cause painful muscle spasms, particularly in the legs.
 Tremor: Some people with MS may experience involuntary quivering movements.
 Vision problems: Some people may experience double or blurred vision, a partial or total loss of
vision, or red-green color distortion. This usually affects one eye at a time. Inflammation of the optic
nerve can result in pain when the eye moves. Vision problems are an early sign of MS.
 Gait and mobility changes: MS can change the way people walk, because of muscle weakness and
problems with balance, dizziness, and fatigue.
  Emotional changes and depression: Demyelination and nerve-fiber damage in the brain can trigger
emotional changes.
 Learning and memory problems: These can make it difficult to concentrate, plan, learn, prioritize,
and multitask.
 Pain: Pain is a common symptom in MS. Neuropathic pain is directly due to MS. Other types of pain
occur because of weakness or stiffness of muscles.
There is also a higher risk of:

 urinary tract infections

 reduced activity and loss of mobility

These can impact a person’s work and social life.
In the later stages, people may experience changes in perception and thinking and sensitivity to heat.
MS affects individuals differently. For some, it starts with a subtle sensation, and their symptoms do not
progress for months or years. Sometimes, symptoms worsen rapidly, within weeks or months.
A few people will only have mild symptoms, and others will experience significant changes that lead to
disability. However, most people will experience times when symptoms worsen and then get better.
Lhermitte’s sign is a common symptom of MS that happens when a person moves their head.
 
CAUSES
The cause of MS is not known. Scientists believe MS is triggered by a combination of factors. To identify the
cause, research is ongoing in areas of:
 immunology (the study of the body’s immune system)
 epidemiology (the study of disease patterns in large groups of people)
 genetics (understanding the genes that may not be functioning correctly in people who develop MS)
 infectious agents (such as viruses)
Understanding what causes MS will speed the process of finding more effective ways to treat it and —
ultimately — cure it, or even prevent it from occurring in the first place.

(b). Parkinson's Disease

INTRODUCTION
Parkinson’s disease (PD) is Central Nervous System disorder which affects movement. Parkinson’s disease is
characterized by tremors and stiffness. It is a progressive disease, which means that it worsens with time. There
is no cure available at present.
Parkinson’s disease is a progressive disorder that is caused by degeneration of nerve cells in the part of the
brain called the substantia nigra, which controls movement. These nerve cells die or become impaired, losing
the ability to produce an important chemical called dopamine. Studies have shown that symptoms of
Parkinson's develop in patients with an 80 percent or greater loss of dopamine-producing cells in the substantia
nigra.
Normally, dopamine operates in a delicate balance with other neurotransmitters to help coordinate the millions
of nerve and muscle cells involved in movement. Without enough dopamine, this balance is disrupted, resulting
in tremor (trembling in the hands, arms, legs and jaw); rigidity (stiffness of the limbs); slowness of movement;
and impaired balance and coordination – the hallmark symptoms of Parkinson's.

STAGES OF PARKINSON’S DISEASE

Parkinson’s disease is a progressive disease. That means symptoms of the condition typically worsen over time.
Many doctors use the Hoehn and Yahr scale to classify its stages. This scale divides symptoms into five stages,
and it helps healthcare providers know how advanced the disease signs and symptoms are.

Stage 1
Stage 1 Parkinson’s is the mildest form. It’s so mild, in fact, you may not experience symptoms that are
noticeable. They may not yet interfere with your daily life and tasks. If you do have symptoms, they may be
isolated to one side of your body.
Stage 2
The progression from stage 1 to stage 2 can take months, or even years. Each person’s experience will be
different. At this moderate stage, you may experience symptoms such as:

 muscle stiffness

 tremors

 changes in facial expressions

 trembling
Muscle stiffness can complicate daily tasks, prolonging how long it takes you to complete them. However, at
this stage, you’re unlikely to experience balance problems. Symptoms may appear on both sides of the body.
Changes in posture, gait, and facial expressions may be more noticeable.
Stage 3
At this middle stage, symptoms reach a turning point. While you’re unlikely to experience new symptoms, they
may be more noticeable. They may also interfere with all of your daily tasks. Movements are noticeably slower,
which slows down activities. Balance issues become more significant, too, so falls are more common. But
people with stage 3 Parkinson’s can usually maintain their independence and complete activities without much
assistance.
Stage 4
The progression from stage 3 to stage 4 brings about significant changes. At this point, you will experience
great difficulty standing without a walker or assistive device. Reactions and muscle movements also slow
significantly. Living alone can be unsafe, possibly dangerous.
Stage 5
In this most advanced stage, severe symptoms make around-the-clock assistance a necessity. It will be difficult
to stand, if not impossible. A wheelchair will likely be required. Also, at this stage, individuals with Parkinson’s
may experience confusion, delusions, and hallucinations. These complications of the disease can begin in the
later stages. This is the most common Parkinson’s disease stage system, but alternative staging systems for
Parkinson’s are sometimes used.

SYMPTOMS
Some of the early symptoms of Parkinson’s can come before motor problems by several years. These earliest
signs include:

 decreased ability to smell (anosmia)

  constipation

 small, cramped handwriting

 voice changes

 stooped posture

The four major motor problems seen are:

 tremor (shaking that occurs at rest)

 slow movements

 stiffness of arms, legs, and trunk

 problems with balance and tendency to fall

Secondary symptoms include:

 blank facial expression

 a tendency to get stuck when walking

 muffled, low-volume speech

 decreased blinking and swallowing

 tendency to fall backward

 reduced arm swinging when walking

Other, more severe, symptoms may include:

 flaky white or yellow scales on oily parts of the skin, known as seborrheic dermatitis

 increased risk of melanoma, a serious type of skin cancer

 sleep disturbances including vivid dreams, talking, and movement during sleep

 depression

 anxiety

 hallucinations

 psychosis

 problems with attention and memory

 difficulty with visual-spatial relationships

Early signs of Parkinson’s disease may go unrecognized. Your body may try to alert you to the movement
disorder many years before movement difficulties begin with these warning signs.
FOUR CARDINAL SYMPTOMS OF PARKINSON’S DISEASE
Following are considered to be the cardinal symptoms of Parkinson’s Disease:
1.    Bradykinesia: slowness of movement
2.    Tremor: most apparent, It is usually a rest tremor, maximal when the limb is at rest and disappearing with
voluntary movement and sleep.
3.    Rigidity: increased muscle tone which produces stiffness and resistance to movement in joints.
4.    Postural instability (aka parkinsonism): impaired balance and frequent falls

CAUSES
In Parkinson's disease, certain nerve cells (neurons) in the brain gradually break down or die. Many of the
symptoms are due to a loss of neurons that produce a chemical messenger in your brain called dopamine. When
dopamine levels decrease, it causes abnormal brain activity, leading to symptoms of Parkinson's disease.

The cause of Parkinson's disease is unknown, but several factors appear to play a role, including:

·         Your genes. Researchers have identified specific genetic mutations that can cause Parkinson's disease.
But these are uncommon except in rare cases with many family members affected by Parkinson's disease.
However, certain gene variations appear to increase the risk of Parkinson's disease but with a relatively small
risk of Parkinson's disease for each of these genetic markers.

·         Environmental triggers. Exposure to certain toxins or environmental factors may increase the risk of
later Parkinson's disease, but the risk is relatively small.
Researchers have also noted that many changes occur in the brains of people with Parkinson's disease, although
it's not clear why these changes occur.

RISK
Risk factors for Parkinson's disease include:
·         Age. Young adults rarely experience Parkinson's disease. It ordinarily begins in middle or late life, and
the risk increases with age. People usually develop the disease around age 60 or older.
·         Heredity. Having a close relative with Parkinson's disease increases the chances that you'll develop the
disease. However, your risks are still small unless you have many relatives in your family with Parkinson's
disease.
·         Sex. Men are more likely to develop Parkinson's disease than are women.
·         Exposure to toxins. Ongoing exposure to herbicides and pesticides may slightly increase your risk of
Parkinson's disease.

PREVENTION
It is not possible to prevent Parkinson’s disease, but research has shown that some lifelong habits may help to
reduce the risk.
Turmeric: This spice contains curcumin, an antioxidant ingredient. It may help to prevent the clumping of a
protein involved in Parkinson’s disease, at least one laboratory study has found.
Flavonoids: Consuming another type of antioxidant — flavonoids — may lower the risk of developing
Parkinson’s disease, according to research. Flavonoids are present in berries, apples, some vegetables, tea, and
red grapes.
Avoiding reheated cooking oils: Scientists have linked toxic chemicals, known as aldehydes, to Parkinson’s,
Alzheimer’s and other neurodegenerative diseases, and some cancers.
Heating certain oils — such as sunflower oil — to a certain temperature, and then using them again can cause
aldehydes to occur in those oils.
Avoiding toxins: Exposure to herbicides, pesticides, and other toxins may increase the risk of neurological
diseases such as Parkinson’s disease. People should take precautions when using these types of product, for
example, by using protective clothing.

DIAGNOSIS
A number of disorders can cause symptoms similar to those of Parkinson's disease. People with Parkinson's-like
symptoms that result from other causes are sometimes said to have parkinsonism. While these disorders initially
may be misdiagnosed as Parkinson's, certain medical tests, as well as response to drug treatment, may help to
distinguish them from Parkinson's. Since many other diseases have similar features but require different
treatments, it is important to make an exact diagnosis as soon as possible.
There are currently no blood or laboratory tests to diagnose nongenetic cases of Parkinson's disease. Diagnosis
is based on a person's medical history and a neurological examination. Improvement after initiating medication
is another important hallmark of Parkinson's disease.
Unified Parkinson’s Disease Rating Scale (UPDRS)
The UPD rating scale is the most commonly used scale in the evaluation of Parkinson’s disease.
The UPDRS scale consists of five segments:
1.    Mentation, Behavior, and Mood,
2.    ADL,
3.    Motor sections,
4.    Modified Hoehn and Yahr Scale, and
5.    Schwab and England ADL scale.
A total score of 199 indicates worst disability due to Parkinson’s and a total score of zero indicates no
disability at all.

2(a). Blood Disorder- Hemophilia

INTRODUCTION
Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience
prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases
of hemophilia, continuous bleeding occurs after minor trauma or even in the absence of injury (spontaneous
bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal
organs. Milder forms of hemophilia do not necessarily involve spontaneous bleeding, and the condition may not
become apparent until abnormal bleeding occurs following surgery or a serious injury.

TYPES OF HEMOPHILIA
The two main types of hemophilia are A and B, according to the National Hemophilia Foundation. A third,
rarer form of the disease is called hemophilia C. Each type is directly related to a specific factor, namely,
hemophilia A is a Factor VIII deficiency, hemophilia B is a Factor IX deficiency and hemophilia C is a Factor
XI deficiency.

Hemophilia type A
Hemophilia A is a genetic disorder caused by missing or defective Factor VIII protein. It is inherited, but in
about one-third of known cases it is caused by a spontaneous genetic mutation.
The blood disorder affects all ethnic groups equally. More than half of all people with hemophilia A have a
severe form of the disease.
Hemophilia A is carried by the X chromosome. It is inherited in an X-linked recessive manner. As such, two
hemophilia-carrying X chromosomes must be inherited for the disease to be active in women, but only in one X
chromosome for men.
A female inherits two XX chromosomes, one from her mother and one from her father (XX). A male inherits an
X chromosome and a Y chromosome from her father (XY). This means that if a son inherits an X chromosome
from his mother who carries hemophilia, he will have hemophilia. But because women receive two X
chromosomes, only if both parents carry the defective gene can they develop the disease.
Hemophilia A has three stages: mild, moderate and severe, depending on the ratio of Factor VIII clotting
protein in the blood. Mild hemophilia 6-49 percent, moderate hemophilia is 1-5 percent, and severe is less than
1 percent.
People with hemophilia A bleed longer than others, internally or externally. Those with mild hemophilia A
generally bleed only after serious injury, trauma or surgery. Often, the disease is diagnosed after one of these
situations due to prolonged bleeding, and the first episode may occur only in adulthood. Women often
experience heavy menstrual periods and can hemorrhage after giving birth.
Moderate hemophilia patients tend to have more frequent bleeding episodes after less important injuries, or
even spontaneously. In severe cases, bleeding may occur spontaneously in the joints and muscles.
Hemophilia A should be diagnosed and treated at a specialized hemophilia center. Tests that evaluate clotting
time and a patient’s ability to form a clot may be ordered. A clotting factor test, called an assay, will determine
the type of hemophilia and its severity.
The main treatment for hemophilia A is concentrated Factor VIII product, which is administered intravenously.
Patients with severe hemophilia may be given a routine treatment regimen called prophylaxis to maintain
enough clotting factor in their bloodstream to prevent bleeds.

Hemophilia type B
Hemophilia B is a genetic disorder caused by missing or defective Factor IX clotting protein. It is also
inherited, and just like hemophilia A, it can be caused by a spontaneous genetic mutation in one-third of the
cases. This type of hemophilia also affects all ethnic groups equally, but it is about four times as rare
as hemophilia A.
Hemophilia B is also carried in the X chromosome, in an X-linked recessive manner, meaning that two
hemophilia-carrying X chromosomes must be inherited for the disease to be active in women, but only in one X
chromosome in men.
Females inherit two XX chromosomes, one from their mother and one from their father (XX). Males inherit an
X chromosome and a Y chromosome from their father (XY). This means that is a son inherits an X
chromosome from his mother that has carries hemophilia, he will have hemophilia. But because women receive
two X chromosomes, it’s only if the two carry the defective gene, that they develop the disease.
Severity levels are the same as hemophilia A, as well as symptoms.
Hemophilia type C
Hemophilia C is a genetic disorder caused by missing or defective Factor XI clotting protein. The disease was
first recognized in 1953 in patients who experienced severe bleeding after dental extractions.
The incidence of hemophilia C is estimated at one in every 100,000 people in the general population. In Israel,
Factor XI deficiency occurs in up to 8 percent of Ashkenazi Jews due to intermarriage. This is because a Factor
XI deficiency is inherited in an autosomal recessive pattern, meaning both parents must carry the gene to pass it
on to their children. Unlike hemophilia A and B, men and women are affected equally.
Factor XI plays an important role in the clotting cascade, which leads to clotting. It helps generate more
thrombin, a protein that converts fibrinogen to fibrin, which traps platelets and helps hold a clot in place.
Unlike hemophilia A and B, symptoms don’t correlate with Factor XI levels in the blood. People with lower
levels may bleed less than those with higher levels of Factor XI. Patients often experience nosebleeds or soft
tissue bleeds, as well as hemorrhaging after tooth extraction.
Many women may not know they’re deficient in Factor XI until they experience menorrhagia (heavy menstrual
periods) or postpartum bleeding. In hemophilia C, joint and muscle bleeds are uncommon.

SYMPTOMS
The major symptom is bleeding, either prolonged external bleeding or bruising after minor trauma or for no
apparent reason. Symptoms vary depending on whether the patient has the mild, moderate, or severe form of
the disorder:
 In severe hemophilia, unprovoked (spontaneous) bleeding episodes occur often.
 In moderate hemophilia, prolonged bleeding tends to occur after a more significant injury.
 In mild hemophilia, a patient might have unusual bleeding, but only after a major injury, surgery, or
trauma.
People with hemophilia may have any type of internal bleeding, but most often it occurs in the muscles and
joints, such as the elbows, knees, hips, shoulders and ankles. There may be no pain at first, but if the bleeding
continues, the joint may become hot to the touch, swollen, and painful to move.
Repeated bleeding into the joints and muscles over time may cause permanent damage, such as joint deformity
and reduced mobility.
Bleeding in the brain is a very serious problem for those with severe hemophilia. It may be life-threatening. Get
medical help immediately if you have signs of bleeding, such as:
 Changes in behavior.
 Excessive sleepiness.
 Headache that will not go away.
 Neck pain.
 Double vision.
 Vomiting.
 Convulsions or seizures.
CAUSES
When you bleed, your body normally pools blood cells together to form a clot to stop the bleeding. The clotting
process is encouraged by certain blood particles. Hemophilia occurs when you have a deficiency in one of these
clotting factors.
There are several types of hemophilia, and most forms are inherited. However, about 30% of people with
hemophilia have no family history of the disorder. In these people, an unexpected change occurs in one of the
genes associated with hemophilia.
Acquired hemophilia is a rare variety of the condition that occurs when a person's immune system attacks
clotting factors in the blood. It can be associated with:
 Pregnancy
 Autoimmune conditions
 Cancer
 MS

In the most common types of hemophilia, the faulty gene is located on

the X chromosome. Everyone has two sex chromosomes, one from each
parent. A female inherits an X chromosome from her mother and an X
chromosome from her father. A male inherits an X chromosome from his
mother and a Y chromosome from his father.
This means that hemophilia almost always occurs in boys and is passed
from mother to son through one of the mother's genes. Most women with
the defective gene are simply carriers and experience no signs or symptoms of hemophilia. But some carriers
can experience bleeding symptoms if their clotting factors are moderately decreased.

RISK
The biggest risk factor for hemophilia is to have family members who also have the disorder.

DIAGNOSIS
The majority of patients with hemophilia have a known family history of the condition. However, about one-
third of cases occur in the absence of a known family history. Most of these cases without a family history arise
due to a spontaneous mutation in the affected gene. Other cases may be due to the affected gene being passed
through a long line of female carriers.
If there is no known family history of hemophilia, a series of blood tests can identify which part or protein
factor of the blood clotting mechanism is defective if an individual has abnormal bleeding episodes.
The platelet (a blood particle essential for the clotting process) count and bleeding time test should be measured
as well as two indices of blood clotting, the prothrombin time (PT) and activated partial thromboplastin time
(aPTT). A normal platelet count, normal PT, and a prolonged aPTT are characteristic of hemophilia A and
hemophilia B. Specific tests for the blood clotting factors can then be performed to measure factor VII or factor
IX levels and confirm the diagnosis.
Genetic testing to identify and characterize the specific mutations responsible for hemophilia is also available in
specialized laboratories.

2(b). Blood Disorder- Thalassemia

INTRODUCTION
Thalassemia is a genetically inherited blood disorder which is characterized by the production of less or
abnormal hemoglobin. As we know, hemoglobin is a protein found in Red Blood Cells. Hemoglobin is
responsible for carrying oxygen around in the body. Thalassemia results in large numbers of red blood cells
being destroyed, which leads to anemia. Anemia is a condition in which your body doesn’t have enough
normal, healthy red blood cells. As a result of anemia, person affected with Thalassemia will have pale skin,
fatigue and dark coloration of urine.
Thalassemia is inherited, meaning that at least one of your parents must be a carrier of the disorder. It’s caused
by either a genetic mutation or a deletion of certain key gene fragments. Thalassemia minor is a less serious
form of the disorder. There are two main forms of thalassemia that are more serious. In alpha thalassemia, at
least one of the alpha globin genes has a mutation or abnormality. In beta thalassemia, the beta globin genes are
affected.

TYPES
Thalassemia beta
Beta thalassemia occurs when your body can’t produce beta globin. Two genes, one from each parent, are
inherited to make beta globin. This type of thalassemia comes in two serious subtypes: thalassemia major
(Cooley’s anemia) and thalassemia intermedia.

Thalassemia major
Thalassemia major is the most severe form of beta thalassemia. It develops when beta globin genes are missing.
The symptoms of thalassemia major generally appear before a child’s second birthday. The severe anemia
related to this condition can be life-threatening. Other signs and symptoms include:

 fussiness

 paleness

 frequent infections

 a poor appetite

 failure to thrive

 jaundice, which is a yellowing of the skin or the whites of the eyes

 enlarged organs
This form of thalassemia is usually so severe that it requires regular blood transfusions.

Thalassemia intermedia
Thalassemia intermedia is a less severe form. It develops because of alterations in both beta globin genes.
People with thalassemia intermedia don’t need blood transfusions.

Thalassemia alpha
Alpha thalassemia occurs when the body can’t make alpha globin. In order to make alpha globin, you need to
have four genes, two from each parent.
This type of thalassemia also has two serious types: hemoglobin H disease and hydrops fetalis.

Hemoglobin H
Hemoglobin H develops as when a person is missing three alpha globin genes or experiences changes in these
genes. This disease can lead to bone issues. The cheeks, forehead, and jaw may all overgrow. Additionally,
hemoglobin H disease can cause:

 jaundice
  an extremely enlarged spleen

 malnourishment

Hydrops fetalis
Hydrops fetalis is an extremely severe form of thalassemia that occurs before birth. Most babies with this
condition are either stillborn or die shortly after being born. This condition develops when all four alpha globin
genes are altered or missing.

Thalassemia and anemia

Thalassemia can quickly lead to anemia. This condition is marked by a lack of oxygen being transported to
tissues and organs. Since red blood cells are responsible for delivering oxygen, a reduced number of these cells
means you don’t have enough oxygen in the body either.
Your anemia may be mild to severe. Symptoms of anemia include:

 dizziness

 fatigue

 irritability

 shortness of breath

 weakness
Anemia can also cause you to pass out. Severe cases can lead to widespread organ damage, which can be fatal.

Thalassemia and genetics

Thalassemia is genetic in nature. To develop full thalassemia, both of your parents must be carriers of the
disease. As a result, you will have two mutated genes.
It’s also possible to become a carrier of thalassemia, where you only have one mutated gene and not two from
both parents. Either one or both of your parents must have the condition or be a carrier of it. This means that
you inherit one mutated gene from either one of your parents.
It’s important to get tested if one of your parents or a relative has some form of the disease.

Thalassemia minor
In alpha minor cases, two genes are missing. In beta minor, one gene is missing. People with thalassemia minor
don’t usually have any symptoms. If they do, it’s likely to be minor anemia. The condition is classified as either
alpha or beta thalassemia minor.
Even if thalassemia minor doesn’t cause any noticeable symptoms, you can still be a carrier for the disease.
This means that, if you have children, they could develop some form of the gene mutation.

SYMPTOMS
There are several types of thalassemia. The signs and symptoms you have depend on the type and severity of
your condition.
Thalassemia signs and symptoms can include:
·         Fatigue
·         Weakness
·         Pale or yellowish skin
·         Facial bone deformities
·         Slow growth
·         Abdominal swelling
·         Dark urine
Some babies show signs and symptoms of thalassemia at birth; others develop them during the first two years
of life. Some people who have only one affected hemoglobin gene don't have thalassemia symptoms.

CAUSES
Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in red blood
cells that carries oxygen throughout your body. The mutations associated with thalassemia are passed from
parents to children.
Hemoglobin molecules are made of chains called alpha and beta chains that can be affected by mutations. In
thalassemia, the production of either the alpha or beta chains are reduced, resulting in either alpha-thalassemia
or beta-thalassemia.
In alpha-thalassemia, the severity of thalassemia you have depends on the number of gene mutations you inherit
from your parents. The more mutated genes, the more severe your thalassemia.
In beta-thalassemia, the severity of thalassemia you have depends on which part of the hemoglobin molecule is
affected.

Alpha-thalassemia
Four genes are involved in making the alpha hemoglobin chain. You get two from each of your parents. If you
inherit:
·         One mutated gene, you'll have no signs or symptoms of thalassemia. But you are a carrier of the disease
and can pass it on to your children.
·         Two mutated genes, your thalassemia signs and symptoms will be mild. This condition might be called
alpha-thalassemia trait.
·         Three mutated genes, your signs and symptoms will be moderate to severe.
Inheriting four mutated genes is rare and usually results in stillbirth. Babies born with this condition often die
shortly after birth or require lifelong transfusion therapy. In rare cases, a child born with this condition can be
treated with transfusions and a stem cell transplant.
Beta-thalassemia
Two genes are involved in making the beta hemoglobin chain. You get one from each of your parents. If you
inherit:
·         One mutated gene, you'll have mild signs and symptoms. This condition is called thalassemia minor or
beta-thalassemia.
·         Two mutated genes, your signs and symptoms will be moderate to severe. This condition is called
thalassemia major, or Cooley anemia.
Babies born with two defective beta hemoglobin genes usually are healthy at birth but develop signs and
symptoms within the first two years of life. A milder form, called thalassemia intermedia, also can result from
two mutated genes.

2(c). Blood Disorder- Sickle Cell Disease

INTRODUCTION
Sickle Cell Disease is a group of blood disorders that causes red blood cells (RBCs) to become sickle-shaped,
misshapen and break down. The oxygen-carrying capacity of such misshapen RBCs reduce significantly. Sickle
cell anemia is an inherited red blood cell disorder in which there aren't enough healthy red blood cells to carry
oxygen throughout your body. It is a genetically transferred disease. Red Blood Cells contain a protein called
hemoglobin. This is the protein that binds oxygen and carry it to all the parts of the body.
A gene on chromosome 11 is responsible for producing hemoglobin protein. This gene sometimes becomes
abnormal due to mutation. If a person inherits two abnormal copies of this gene, one from each parent, then that
person will develop sickle cell disease. The sickle cell gene is passed from generation to generation in a pattern
of inheritance called autosomal recessive inheritance. This means that both the mother and the father must
pass on the defective form of the gene for a child to be affected. There's no cure for most people with sickle cell
anemia. But treatments can relieve pain and help prevent complications associated with the disease.

TYPES OF SCD
Following are the most common types of SCD:
HbSS
People who have this form of SCD inherit two sickle cell genes (“S”), one from each parent. This is commonly
called sickle cell anemia and is usually the most severe form of the disease.
HbSC
People who have this form of SCD inherit a sickle cell gene (“S”) from one parent and from the other parent a
gene for an abnormal hemoglobin called “C”. Hemoglobin is a protein that allows red blood cells to carry
oxygen to all parts of the body. This is usually a milder form of SCD.
HbS beta thalassemia
People who have this form of SCD inherit one sickle cell gene (“S”) from one parent and one gene for beta
thalassemia, another type of anemia, from the other parent. There are two types of beta thalassemia: “0” and
“+”. Those with HbS beta 0-thalassemia usually have a severe form of SCD. People with HbS beta +-
thalassemia tend to have a milder form of SCD.
There also are a few rare types of SCD:

HbSD, HbSE, and HbSO

People who have these forms of SCD inherit one sickle cell gene (“S”) and one gene from an abnormal type of
hemoglobin (“D”, “E”, or “O”). Hemoglobin is a protein that allows red blood cells to carry oxygen to all parts
of the body. The severity of these rarer types of SCD varies.
SICKLE CELL TRAIT (SCT)

HbAS
People who have SCT inherit one sickle cell gene (“S”) from one parent and one normal gene (“A”) from the
other parent. This is called sickle cell trait (SCT). People with SCT usually do not have any of the signs of the
disease and live a normal life, but they can pass the trait on to their children. Additionally, there are a few,
uncommon health problems that may potentially be related to sickle cell trait.

SYMPTOMS
Signs and symptoms of sickle cell anemia usually appear around 5 months of age. They vary from person to
person and change over time. Signs and symptoms can include:
·         Anemia. Sickle cells break apart easily and die, leaving you with too few red blood cells. Red blood cells
usually live for about 120 days before they need to be replaced. But sickle cells usually die in 10 to 20 days,
leaving a shortage of red blood cells (anemia).
Without enough red blood cells, your body can't get enough oxygen, causing fatigue.
·         Episodes of pain. Periodic episodes of pain, called pain crises, are a major symptom of sickle cell
anemia. Pain develops when sickle-shaped red blood cells block blood flow through tiny blood vessels to your
chest, abdomen and joints. Pain can also occur in your bones.
The pain varies in intensity and can last for a few hours to a few weeks. Some people have only a few pain
crises a year. Others have a dozen or more pain crises a year. A severe pain crisis requires a hospital stay.

·         Swelling of hands and feet. The swelling is caused by sickle-shaped red blood cells blocking blood flow
to the hands and feet.
·         Frequent infections. Sickle cells can damage your spleen, leaving you more vulnerable to infections.
Doctors commonly give infants and children with sickle cell anemia vaccinations and antibiotics to prevent
potentially life-threatening infections, such as pneumonia.
·         Delayed growth or puberty. Red blood cells provide your body with the oxygen and nutrients needed
for growth. A shortage of healthy red blood cells can slow growth in infants and children and delay puberty in
teenagers.
·         Vision problems. Tiny blood vessels that supply your eyes can become plugged with sickle cells. This
can damage the retina — the portion of the eye that processes visual images — and lead to vision problems.

CAUSES Mutations in the HBB gene cause sickle cell disease.

Hemoglobin consists of four protein subunits, typically, two subunits

called alpha-globin and two subunits called beta-globin.
The HBB gene provides instructions for making beta-globin. Various
versions of beta-globin result from different mutations in
the HBB gene. One particular HBB gene mutation produces an
abnormal version of beta-globin known as hemoglobin S (HbS). Other
mutations in the HBB gene lead to additional abnormal versions of beta-globin such as hemoglobin C (HbC)
and hemoglobin E (HbE). HBB gene mutations can also result in an unusually low level of beta-globin; this
abnormality is called beta thalassemia.
In people with sickle cell disease, at least one of the beta-globin subunits in hemoglobin is replaced with
hemoglobin S. In sickle cell anemia, which is a common form of sickle cell disease, hemoglobin S replaces
both beta-globin subunits in hemoglobin. In other types of sickle cell disease, just one beta-globin subunit in
hemoglobin is replaced with hemoglobin S. The other beta-globin subunit is replaced with a different abnormal
variant, such as hemoglobin C. For example, people with sickle-hemoglobin C (HbSC) disease have
hemoglobin molecules with hemoglobin S and hemoglobin C instead of beta-globin. If mutations that produce
hemoglobin S and beta thalassemia occur together, individuals have hemoglobin S-beta
thalassemia (HbSBetaThal) disease.
Abnormal versions of beta-globin can distort red blood cells into a sickle shape. The sickle-shaped red blood
cells die prematurely, which can lead to anemia. Sometimes the inflexible, sickle-shaped cells get stuck in small
blood vessels and can cause serious medical complications.
 Multiple Disabilities

INTRODUCTION
Multiple Disabilities is the simultaneous occurrence of two or more disabling conditions that affect learning
or other important life functions. These disabilities could be a combination of both motor and sensory nature.

IDEA’s Definition of Multiple Disabilities

Multiple disabilities…
…means concomitant [simultaneous] impairments (such as intellectual disability-blindness, intellectual
disability-orthopedic impairment, etc.), the combination of which causes such severe educational needs that
they cannot be accommodated in a special education program solely for one of the impairments. The term does
not include deaf-blindness.
Multiple Disabilities could be two different types of physical disabilities, two different mental disabilities, or a
combination of physical and mental disabilities. Common examples of Multiple Disabilities are:
 Intellectual disability and blindness
 Mental retardation and orthopedic impairment
 Locomotor disability and speech impairment.
This condition can affect a person so severely that special measures would be required for her developmental
and educational needs.
In countries like USA, deaf-blindness is not included in the category of Multiple Disabilities because there is a
separate classification for deaf-blindness in laws like Individuals with Disabilities Education Act’s (IDEA).
In the Rights of Persons with Disabilities Act (RPWD) — there in no separate classification for deaf-blindness.
So, in India deaf-blindness would be part of the category Multiple Disabilities.
CHARACTERISTICS OF CHILDREN WITH MULTIPLE DISABILITIES
 
Children with MD show some of the following characteristics:
Vision Problems: As children grow, some of them appear to always squeeze their eyes together to look at
something closely, or keep looking at their moving fingers/paper, bump into things while walking, complain of
too much light all the time. Their eyes may also look different from ‘normal’ eyes.
Hearing Problems: A child with a hearing problem may respond to only particular sounds. They may take a
long time and repeated training to develop speech. And mostly they may only repeat what they hear. They may
also learn to adapt to their routine environment by ‘guessing’ the conversations going around, but may actually
face a lot of difficulty in a new place with unknown
people. Sometimes deaf children also show difficulty in balancing their body or walking in a straight line.

Learning Problems: Due to the combined loss of two or more disabilities, the rate and speed of learning of the
children is very slow. Learning often becomes repetitive and meaningless, unless special care is taken to make
the child feel safe about exploring the world around him. Multi handicapped children also have very limited
ideas to play with toys or things around them.

Communication: Communication is probably the one area that is most significantly affected in children with
multiple disabilities. The children are unable to see or hear or follow the different ways in which their brother
and sister play with each other, elders are greeted, standing in a line to get a ticket or passing a bottle of water
around a dining table.
Posture and Mobility: Our sight, hearing and body movements help us to move around, without bumping into
things, remember the way to reach places or even to use our own hands to hold and look at things. Presence of
Cerebral Palsy, locomotor disabilities and balance difficulties makes it hard for the child to manage his own
body movements sometimes and so it becomes very difficult to use his body to move from one place to another.

Odd Behaviours: Most children with multiple disabilities show strange behaviours that are called ‘self-
stimulating’ behaviours. Some of these are moving one’s body repeatedly, shaking head side to side, moving
fingers in front of eyes, hitting or slapping the ears, swinging in one place and so on. The children mostly do
this due to lack of anything else to do. Sometimes it is important for them to continue doing it from time to time
as it helps them get some information about the world around them in their own special way. Sometimes these
children also show disturbed sleep patterns.

Medical Conditions: Most multi-handicapped children also suffer from other medical conditions such as
epilepsy, frequent eye and ear infections, respiratory disorders, muscular degeneration frequent surgeries and so
on. Such medical conditions lead to frequent hospitalizations and the child again misses out on a lot of exposure
and learning from the environment.
We can say that just as every child is different, similarly every child with MD is different. However there are
some things that this group of children have in common.
·       It affects the all-round development of the child
·       Communication with the world around is most severely affected
·       Opportunities to interact with the environment becomes very limited
·       Ability to move around in the environment is restricted
·       Need regular help in simple day-to-day activities such as wearing a shirt, opening a door, Finding a chair
to sit down and so on.
·       A highly structured educational / rehabilitation programme helps in their training.
·       Deficits in self-help like dressing, eating, bowel and control.
·       Deficits and difficulties in terms of learning behavior like slow acquisition rate for learning new
information and skill.
·       Deficits in terms of communication behavior like speech problems, inability to express oneself.
·       Deficits in terms of physical and motor behavior like difficulty in moving from one place to another place.
·       Deficits and deficiencies in terms of social skills like difficulty in having needed social interaction
participation in group activities.
·       Presence of inappropriate behavior and emotional disturbance like aggression, withdrawal and shyness,
suicidal tendency.

CAUSES OF MULTIPLE DISABILITIES

There are several factors that cause severe and multiple disabilities & can be divided as follows:
Prenatal causes which include:
·       Chromosomal abnormalities
·       Viral infections
·       Drug and Alcohol use during pregnancy
·       Mother’s malnutrition
·       Physical trauma to the mother
Perinatal causes which include:
·       Lack of oxygen supply to the baby’s brain
·       Physical injury to the baby’s brain at birth
·       Contracted infections during birth
Postnatal causes which include:
·       Childhood infections such as meningitis & encephalitis
·       Traumatic brain injury from an accident or abuse
·       Lead poisoning
·        Reactions to medication
·       Exposure to toxins or other environmental conditions
As with other disabilities, the severity and complexity of the disability depends on the genetic
abnormality, the amount of damage to the brain and the environment in which the child is raised.
 
GOVERNMENT POLICIES, SCHEMES (STATE AND CENTRE) & ACTS, RIGHTS
AND ENTITLEMENTS

A1. Rehabilitation Council of India (RCI) Act No. 34 of 1992 -It was given Statutory status by an Act of
Parliament, the Rehabilitation Council of India Act, 1992 (No. 34 of 1992) dated 1st September, 1992 effective
from 22nd June, 1993. The RCI Act was amended by Parliament in 2000 (No.38 of 2000) to make it broader
based.
The Act provides for constitution of the Rehabilitation Council of India for regulating and monitoring the
training of rehabilitation professionals and personnel, promotion of research in rehabilitation and special
education and maintenance of a Central Rehabilitation Register. By signing and ratifying the United Nations
Convention on the Rights of Persons with Disabilities (UNCRPD), India has committed itself to harmonize all
the domestic laws including the RCI Act. The Convention has brought the inclusion of persons with disabilities
to the centre-stage need to implement the provisions of the Convention in its true spirit. Accordingly, the syllabi
and curricula of the various rehabilitation courses developed and standardized by RCI are being continuously
revised so as to meet the requirements of the relevant provisions in the UNCRPD.

• Registration of Vocational Instructors and Personnel working in disability sector, in the Central
Rehabilitation Register (CRR).
Those working in the Vocational Rehabilitation Centres under the Ministry of Labour. üThose working in
National Institutes and Apex Institutions on disability under the Ministry of Social Justice & Empowerment. •
Register of Rehabilitation of Professionals/Personnel üThe Member Secretary to keep and maintain the Register
in accordance with the provisions of this Act. üThe Register shall be deemed to be a public document within the
meaning of the Indian Evidence Act, 1872

A.2. PERSONS WITH DISABILITIES (EQUAL OPPORTUNITIES, PROTECTION OF RIGHTS AND

FULL PARTICIPATION) ACT, 1995
The Persons with Disabilities Act (PwD) seeks to give effect to the Proclamation at Beijing in
December1992tolaunchtheAsianandPacificDecadeoftheDisabledPersons1993-2002,onfull participation and
equality of persons with disabilities in the Asian And Pacific Region, by the UNESCAP. India was a signatory
to the said Proclamation.

The objectives of the Disabilities Act, broadly, are as follows:

To identify the Government's responsibility for prevention of disabilities, protection of the rights of disabled,
provision of medical care, education, training, employment and rehabilitation of persons with disabilities.
 To create a barrier-free environment for persons with disabilities.
 To remove any discrimination against persons with disabilities in the sharing of benefits of
development, in relation to their non-disabled peers.
 To prevent abuse and exploitation of persons with disabilities.
 To lay down strategies for comprehensive development of programs and services and equalization of
opportunities for persons with disabilities, as affirmative action.
 To make special provision for the integration of persons with disabilities into mainstream, society
 Setting up of Central and State Co-ordination Committees (headed by Honorable Minister) and
Executive committees at the Central and State levels, (headed by Secretary of the Ministry) to carry out
various functions assigned to them.
  To appoint a Chief Commissioner for Persons with Disabilities at the Central level and a State
Commissioner at State levels, with powers to monitor the funds disbursed by the Central and State
governments, and also to take steps to safeguard the rights of the persons with disabilities. Quasi –
judicial powers are given to them, under this Act.
 The Act has been made applicable to the whole of India except the State of Jammu & Kashmir, w.e.f.
July, 1996.

A.2.c. Legal rights of the disabled under the Persons with Disabilities Act,1995
This Act gives persons with disabilities, rights to equal opportunity, full participation at par with the non-
disabled and outlines the Government's obligations in prevention of disability, and early identification. Other
major rights include care and rehabilitation, early intervention, education (both special and integrated with
others), vocational training and employment, accessibility and barrier –free environment, appropriate aids and
appliances, land allotment on a preferential basis, etc. Transportation and employment is dealt within great
detail.
One of the most important sections of the PwD Act is an opportunity provided to persons with disabilities for
redressal of their grievances through a complaint mechanism which uses the quasi judicial powers of the Chief
Commissioner and State Commissioners.

A.3.THE NATIONAL TRUST FOR WELFARE OF PERSONS WITH AUTISM, CEREBRAL PALSY,
MENTAL RETARDATION AND MULTIPLE DISABILITIES ACT, 1999
The National Trust has been set up as a statutory body under the Ministry of Social Justice & Empowerment,
Government of India, under the “National Trust for the Welfare of Persons with Autism, Cerebral Palsy, Mental
Retardation and Multiple Disabilities” Act (Act 44 of 1999). It is financially and administratively autonomous
body corporate, with an elected Board as its final decision-making body. The Nations Trust Act (NTA) caters to
persons with developmental disabilities, whose needs for customized care and protection were not being fully
served in the PWD Act. A.3.a.

Main Objectives
• To ensure that persons with these disabilities are enabled and empowered to live independently within their
own communities, and to do so with dignity
• To answer parent's questions about what will happen to their disabled children after the parent's death
• To support & strengthen NGOs & other registered service providers through various schemes and programs.
• To appoint Legal Guardians to assist those with high-support needs through District Local Level Committees
in each district in India, to supervise the above activity.

B. International Treaty in Disability

United Nations Convention on the Rights of Persons with Disabilities, (UNCRPD) - 2007
B.a. The Convention on the Rights of Persons with Disabilities and its Optional Protocol was adopted on 13
December 2006 (after 4 years of debate and discussion among 190 member Countries, including India) at the
United Nations Headquarters in New York, and was opened for signature on 30 March 2007. There were 82
signatories to the Convention, 44 signatories to the Optional Protocol, and 1 ratification of the Convention on
the first day itself. This is the highest number of signatories in the history of the United Nations, on its opening
day. India has st signed this Convention on the first day of its opening and ratified it on 1 Oct 2007.
B.b. Important Articles
Article 1 – Purpose: to promote, protect and ensure the full and equal enjoyment of all human rights and
fundamental freedoms by all persons with disabilities, and to promote respect for their inherent dignity. Persons
with disabilities include those who have long-term physical, mental, intellectual or sensory impairments which
in interaction with various barriers may hinder their full and effective participation in society on an equal basis
with others. The UNCRPD does not define disability, but uses this description in the 1st article. Here, society is
seen as the entity which causes disability by putting up barriers hindering participation of persons with
impairments.
Article 2-Important Definitions
• “Communication” includes languages, display of text, Braille, tactile communication, large print, accessible
multimedia as well as written, audio, plain-language, human-reader and augmentative and alternative modes,
means and formats of communication, including accessibleinformationandcommunicationtechnology.
• “Language” includes spoken and signed languages and other forms of non-spoken languages.
• “Discrimination on the basis of disability” means any distinction, exclusion or restriction on the basis of
disability which has the purpose or effect of impairing or nullifying the recognition, enjoyment or exercise, on
an equal basis with others, of all human rights and fundamental freedoms in the political, economic, social,
cultural, civil or any other field. It includes all forms of discrimination, including denial of reasonable
accommodation.
• “Reasonable accommodation” means necessary and appropriate modification and adjustments not imposing a
disproportionate or undue burden, where needed in a particular case, to ensure to persons with disabilities the
enjoyment or exercise on an equal basis with others of all human rights and fundamental freedoms.
• “Universal design” means the design of products, environments, programmes and services to be usable by all
people, to the greatest extent possible, without the need for adaptation or specialized design. “Universal design”
shall not exclude assistive devices for particular groups of persons with disabilities where this is needed.
Article 3 - General Principles The UNCRPD identifies 6 civil and political rights, and 12 economic, social
and cultural rights to be enjoyed by all persons with disabilities without discrimination of gender, socio-
economic or rural-urban status.
Article4-GeneralobligationsofGovernments include ensuring non-discrimination, allocation of resources for
rights-realization, close consultation and participation of persons with disabilities, (including children with
disabilities), and awareness-raising among personnel who work with persons with disabilities, so as to ensure
their commitment to the human rights
Article 5 -Equality and non-discrimination
Article 6 - Women with disabilities
Article 7 - Children with disabilities
Article 8- Awareness-raising:-To raise awareness throughout society, including at the family level, regarding
persons with disabilities, and to foster respect for the rights and dignity of persons with disabilities: to combat
stereotypes, prejudices and harmful practices relating to persons with disabilities, including those based on sex
and age, in all areas of life .and also to promote awareness of the capabilities and contributions of persons with
disabilities.
Article 9 - Accessibility:- To enable persons with disabilities to live independently and participate fully in all
aspects of life. States Parties to take appropriate measures to ensure access to persons with disabilities, on an
equal basis with others, to the physical environment, to transportation, to information and communications,
including information and communications technologies and systems, and to other facilities and services open
or provided to the public, both in urban and in rural areas.
Article 10- Right to life:- Reaffirm that every human being has the inherent right to life and shall take all
necessary measures to ensure its effective enjoyment by persons with disabilities on an equal basis with others.
Article 11- Situations of Risk and Humanitarian Emergencies
Article 12- Equal Recognition before the Law
Article 13- Access to Justice
Article 14 - Liberty and security of the person
Article 15- Freedom from torture or cruel, inhuman or degrading treatment or punishment
Article 16- Freedom from exploitation, violence and abuse
Article 17- Protecting the integrity of the person
Article 18- Liberty of movement and nationality
Article 19- Living independently and being included in the community
Article 20- Personal mobility
Article 21- Freedom of expression and opinion, and access to information
Article 22- Respect for privacy
Article 23- Respect for home and the family (relating to marriage, family, parenthood and relationships).
Article 24- Education: This right is given without discrimination and on the basis of equal opportunity, States
Parties shall ensure an inclusive education system at all levels and lifelong learning directed to full development
of human potential and sense of dignity and self-worth.
Article 25-Health:- Recognizes that persons with disabilities have the right to the enjoyment of the highest
attainable standard of health without discrimination on the basis of disability, health services that are gender-
sensitive, including health-related rehabilitation.
Article 26- Habilitation and Rehabilitation:- To enable persons with disabilities to attain and maintain
maximum independence, full physical, mental, social and vocational ability, and shall organize, strengthen and
extend comprehensive habilitation and rehabilitation services and programs, particularly in the areas of health,
employment, education and social services, which begin at the earliest possible stage, and are based on the
multi disciplinary assessment of individual needs and strengths. (habilitation is for those who are born with
disabilities, and rehabilitation is for those who acquire disability later in life).
Article 27- Work and Employment:- recognizes the right of persons with disabilities to work, on an equal basis
with others; this includes the right to the opportunity to gain a living by work freely chosen or accepted in a
labour market and work environments that are open, inclusive and accessible to persons with disabilities,
including for those who acquire a disability during the course of employment.
Article 28- Adequate standard of living and social protection
Article 29 - Participation in political and public life
Article 30- Participation in cultural life, recreation, leisure and sports in accessible formats, including television
programs, films, theatre and other cultural activities.
Article 31 - Statistics and data collection
Article 32 - International Cooperation B.c.
The rest of the 50 Articles are concerned with implementation, reports and monitoring. The UNCRPD is the
only international legal instrument for persons with disabilities.

B.d. The UNCRPD is being implemented through an Incheon Strategy across the World.
B.e. In India, the UNCRPD has been harmonized into a new Disability Bill, which is awaiting Parliament’s
discussion and passage. The new Disability Bill will replace the existing PwD Act of 1995, with 18 disabilities
to be mandated by law, and several new civil and political rights added, and the earlier Social, Economic and
Cultural rights recast as per the UNCRPD conceptual formats.

C. Other domestic laws which are inclusive of persons with disabilities

RIGHT TOEDUCATION ACT,2009 and ConstitutionalAmendment(making educational fundamental right)
C.1. The Constitution (Eighty-sixth Amendment) Act, 2002 inserted Article 21-A in the Constitution of
India to provide free and compulsory education of all children in the age group of six to fourteen years, making
Education of ALL children a Fundamental Right
The Right of Children to Free and Compulsory Education (RTE) Act, 2009, which represents the consequential
legislation envisaged under
Article 21-A, means that every child has a right to full time elementary education of satisfactory and equitable
quality in a formal neighborhood school which satisfies certain essential norms and standards.
Article 21-A and the RTE Act, came into effect on 1 April 2010. With this, India has moved forward to a rights
based framework that casts a legal obligation on the Central and State Governments to implement this
fundamental child right as enshrined in the Article 21A of the Constitution, in accordance with the provisions of
the RTE Act.
The RTE Act provides for the following features:
1. Right of children to a neighborhood school.
2. 'Compulsory Education' means obligation of the appropriate government to provide free elementary
education and ensure compulsory admission, attendance and completion of elementary education to every child
in the six to fourteen age group. 'Free' means that no child in the six to fourteen age group shall be liable to pay
any kind of fee or charges or expenses which may prevent him or her from pursuing and completing 8 years of
elementary education.
3. Admission to an age appropriate class; and Special Training facilities to first-time-learners and learners with
difficulties/delays in learning.
4. Duties and responsibilities of appropriate Governments, local authority and parents in providing free and
compulsory education, and sharing of financial and other responsibilities between the Central and State
Governments.
5. Norms and standards relating inter alia to Pupil Teacher Ratios (PTRs), buildings and infrastructure,school-
workingdays,teacher-workinghours.
6. Rational deployment of teachers by ensuring that the specified pupil teacher ratio is maintained for each
school, rather than just as an average for the State or District or Block, thus ensuring that there is no urban-rural
imbalance in teacher postings. It also provides for prohibition of deployment of teachers for non-educational
work, other than decennial census, elections to local authority, State Legislatures and Parliament, and disaster
relief.
7. Appointment of appropriately trained teachers, i.e. teachers with the requisite entry and academic
qualifications.
8. Prohibits (a) physical punishment and mental harassment; (b) screening procedures for admission of
children; (c) capitation fee; (d) private tuition by teachers and (e) running of schools without recognition.
9. Provides for development of standardized curriculum in consonance with the values enshrined in the
Constitution, ensuring all-round development of the child, building on the child's knowledge, potentiality and
talent and making the child free of fear, trauma and anxiety through a system of child friendly and child
learning.

C.2. The Amendments to the RTE, in 2010, provides for the inclusion of students with disabilities under
the National Trust Act 1999, and the option of home-based education for those who may need it.
The Sarva Shiksha Abhiyaan (SSA), a flagship program of MHRD, has a strong component on Inclusive
Education (IE) for Children with Special Needs (CWSNs) through a 3-pronged effort of School admission,
School readiness Program, and Home-based Education for those who need high-support needs.

D. National Policy for Person with Disability, 2006

This Policy was released by M/oSJ&E in February, 2006, to promote access to appropriate preschool,
elementary and secondary education, to make buildings accessible as well as teaching materials and
methodologies; employment-related and other features are guidelines for implementation of rights enshrined in
the PWD ACT 1995.