I Gusti Ayu Endah Ardjana Department of Child Health Faculty of Medicine University of Udayana, Denpasar

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Diagnostic Criteria from DSM-IV:
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Significantly sub-average general intellectual functioning (IQ < 70), Limitation in two or more adaptive skills: - communication, - self direction, - self-care, - social skills, - health and safety, - leisure - and work Manifests before age of 18 years

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Based on IQ - Mild - Moderate - Severe - Profound

test score : : 50–55 to ± 70 (Educable) : 35–40 to 50-55 (Trainable) : 20–25 to 35-40 : below 20 / 25

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Cerebral palsy Vision, hearing, orthopedic, and dysmorphisme. Learning problems: attention, language, memory. Behavioral / emotional problems : motivation, self – regulation, social interaction, hyperactivity.

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Biologic Genetic ( cognitive impairment ) Socio-economic (poverty, undernutrition, understimulation ) Mixed

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MR = 2.5 % of population Mild MR 85 % ( 2,1 % of population ) – boys : girls = 2 : 1 Severe MR appr, 0.3 – 0.5 % of the population, - boys : girls = 1.5 : 1 a consequence of X – linked disorders.

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- dysmorphisme - mayor organ system dysfunction ( feeding and breathing )  Early infancy ( 2-4 mo ), we have to be suspicious when - failure to interact with the environment, - lack of visual or auditory responsiveness, - unusual muscle tone or posture, - and feeding difficulties.  6 and 18 mo of age, - motor delay ( lack of sitting, crawling, walking )

Newborn, we have to concern when

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2 – 3 year : Language delay 3 – 5 year :

- behavior problems ( including play ) - delays in fine motor skills ( cutting, coloring, drawing ) School age : - academic underachievement - behaviour difficulties ( attention, anxiety, mood, and conduct disorders )

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Parental concerns should be listened carefully - some of their observations as accurate as developmental screening tests.
Usually have others disorders : - vision, hearing, orthopedic, behavioral / emotional disorders, and dysmorphisme.

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~ Diagnostic Criteria from DSM-IV, Tests of intelligence and adaptive functioning Intelligence tests :
IQ (intelligence quotient) = Mental Age Chronological Age - Bayley Scales of infant Development (BSID) - the Stanford – Binet Intelligence Scale, - Wechsler Intelligence Scales, X 100

Adaptive test : Vineland Adaptive Behavior Scale

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15 Months … Spontaneous Scribble
18 Months … Vertical Line 3 Years … Circle

4 Years … Cross
5 Years … Square

6 Years … Triangle

7 Years … Diamond

The role of the pediatrician - early diagnosis, - identification of associated deficits, - interdisciplinary management - provision of primary care, and advocacy for the child and family. The management strategies - multi-modal : health, education, social and recreational activities, behavior problems, and associated impairments. - Support for parents and siblings

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Family involvement . The family should be an integral part of the planning and direction of this process . Care should be family centered and culturally sensitive. Older child . should be involved in planning and decision making.

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Not useful, to improve intellectual function, Helpful, in treating associated behavioral and psychiatric disorders. Psychopharmacology - at specific symptom - ADHD, self-injurious behavior, aggression, anxiety and depression.

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Some families have emotional / social difficulties Higher risk of parental depression and child abuse and neglect Factors associated - good family coping - good parenting skills - stability of marriage - self-esteem - limited number of siblings - higher socioeconomic status - lower degree of disability/associated impairments. - appropriate parental expectations and acceptance - supportive extended family members - and availability of community programs and care services.

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Depends on - underlying cause, - degree of cognitive and adaptive deficits, - presence of associated medical and developmental impairments, - capabilities of the families - school / community supports - services and training provided to the child and family During school years - develop sufficient adaptive behavior skills - as the effects of maturation and plasticity of the brain.

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DS is the trisomy of chromosome 21, the most common trisomy among live births. The syndrome was named after Langdon Down, who first coined the term mongolism because of the mongoloid facial appearance of the patients. Patient features also include mental retardation and short stature.
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In all areas of the world All racial groups the incidence rate is 1 per 600 – 700 live births. Sex: The male to female ratio is increased (approximately 1.15 : 1) in newborns with DS. The effect is restricted to free trisomy 21.

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Age:
Occurrence strongly depends on maternal age. Risk for recurrence of DS in a patient’s siblings also is inherent to maternal age. - For young mothers, risk of a free trisomy is 1–2% - For mothers aged 20 years or younger, occurrence is 1 per 2000 births. - Risk increases considerably for mothers aged 35 years  1 per 365 live births. - in mothers aged 45 years or older, occurrence is 1 per 30 live births.

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Eight or more of the characteristic clinical findings lead to a definite diagnosis.  Px have characteristic craniofacial findings, i.e. - flat occiput and flattened facial appearance.  Px have short limbs, short and broad hands, and short fifth middle phalanx.  Anteriorly and posteriorly flattened head with dysplastic ears, small nose, depressed nasal bridge, protruding tongue, high-arched palate, dental abnormalities, shortened extremities,

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Simian palmar creases, dry skin, joint hyperextensibility or hyperflexibility, neuromuscular hypotonia, premature aging, Intelligence Quatient (IQ) in patient with DS varies from 20 to 80, being mostly between 45 and 55. Ocular findings in px with trisomy 21 include the following: blepharitis, conjunctivitis, prominent epicanthal folds, upward slanting of palpebral fissures, nasolacrimal duct obstruction,

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Ocular  chronic external infections,  high refractive errors,  strabismus (up to 20%),  nystagmus,  keratoconus, keratoglobus,  Brushfield spots (up to 90%),  cataracts,  glaucoma and retinovascular anomalies.

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Genetic Radiation Infectious disease Autoimmunity Maternal age Other factors, such as intragametic accidents, factors relating to satellite association and nucleolar organizers, chemicals.

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Various chromosomal abnormalities may lead to DS, including : - free trisomy 21 (94%) - translocation (4%) - mosaicism (2%) A free trisomy 21 results from non disjunction during meiosis in one of the parents. This occurrence is correlated with advanced maternal and paternal age.

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DS (trisomy 21) is the most commonly recognized genetic cause of mental retardation. The risk of trisomy 21 is directly related to maternal age. All forms of prenatal testing for DS must be voluntary. A nondirective approach should be used when presenting patients with options for prenatal screening and diagnostic testing. Patients who will be 35 years or older on their due date should be offered chorionic villus sampling or second – trimester amniocentesis.
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Women younger than 35 years should be offered maternal serum screening at 16 to 18 weeks of gestation. The maternal serum markers used to screen for trisomy 21 are alphafetoprotein, unconjugated estriol and human chorionic gonadotropin. The use of ultrasound to estimated gestational age improves the sensitivity and specificity of maternal serum screening.
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 

Patients with DS have a shortened life expectancy, - about one third of patients die within the first year, - and one half of patients die by 4 years. - The remainder of patients has a reduced life expectancy as compared to the general population. Congenital heart disease is the major cause of morbidity and early mortality. Recurrent respiratory infections, epilepsy, intestinal obstruction, and leukemia may affect these patients.
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Because of frequent congenital heart malformation, early cardiology consultation is needed. Early cardiologic evaluation is crucial for diagnosing and treating congenital heart defects, which occur in up to 60% of these patients. Due to recurrent respiratory tract infections, a pediatric pneumologist also should manage patients with DS. A child Psychiatrist should lead liaison interventions, family therapies, and psychometric evaluations. Up to 10% of patients with DS have epilepsy: therefore, neurological evaluation is needs. Genetic counseling is indicated.

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Patients have a shortened life expectancy. Early evaluation, diagnosis, and intervention may prevent deaths due to congenital heart defects.
Mental Retardation is common in patients with trisomy 21; however, patients with mosaicism have higher IQ.

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Early stimulation therapy may benefit patients with DS. Patients may benefit from education programs. Psychometric studies and social worker intervention are needed for special education planning. Risk of recurrence for the patient’s child is 50%. The advocacy efforts of patients with DS and their families have resulted in huge improvements in life quality and expectancy.

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