Intellectual Disability, Autism and FAS Flashcards Preview

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Flashcards in Intellectual Disability, Autism and FAS Deck (51)
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What three areas much have deficits to be considered IDD?

1. intellectual functioning
2. adaptive functioning (social, conceptual, practical)
3. Must occur durring developmental period


What are the three general areas of adaptive functions that people with IDD might need help with?

communication, social participation and independent living


THe severity levels of IDD are based on what 3 domains?

conceptual, social and practical


Describe the conceptual, or academic, domain in IDD?

this domain reflects skills associated with the ability to learn and remember what is learned, especially in school


What intelligence test is often used for infant and toddler development (ages 1 month to 3 years 6 months)?

the bayleye scales of infant and toddler development (III)


What intelligence test is often used for preschool and primary kids, ages 2 years 6 months to 7 years 7 months?

the Wechsler Preschool and Primary Scale of Intelligence (WPPSI IV)


What intelligence test is used for children ages 6 years to 16 years 11 months?

the Wechsler Intelligence Scale for Children (WISC-IV)


What is the MODERN way of computing IQ?

It reflects standard deviations form the average in !Q tests, with the SD generally 15.


What IQ score will give a person a classification of IDD?

69 and lower


What is the prevalence of IDD in the general population? Why has this dcreased?

only 1 %, down from 2% because of better prenatal care


What is the most common age of diagnosis for IDD and why?

because early adaptations mask cognitive problems until they "age out" of abilities


What percentage of ID cases are of unknown etiology?

75% (most of these range from 50-70)


What are the maternal infections that give high risk for fetal ID?

rubella, CMV, syphillis, toxoplasmosis, AIDS, maternal hepatitis


What are some non-infectious disease conditions that increase risk for fetal ID?

toxemia, uncontrolled diabetes, maternal malnutrition, vaginal hemorrhage, placenta previa, prolapse of cord, anoxia during birth


What is cultural-familial retardation likely a result of?

just a normal process of distribution of IQ scores along the range, plus below-average intellectual environment


What is the prevalence rate for comorbid mood disorders in those weith IDD

40-75% (adjustment disorers, mood disorders, intermittent explosive disorder, and psychoses)


What should be included in the differential diagnosis for IDD?

chronic diseases (seizure disorder, CF, JRA), sensory handicaps, motor handicaps, chronic or acquired brain sydromes, autism, and schizophrenia


What are some of the facial features of FAS?

short palpebral fissure, flat midface, short nose, indistinct philtrum, thin upper lip...less common are epicanthal folds, low nasal bridge, minor ear anomalies and micrognathia


What are some of the head and neck abnormalities associated with down syndrome?

head: flat back, thick neck, abnormal ears, broad face, slanting eyes, short nose


What are some of the hand and feet abnromalities with down syndrome?

short broad hands, many loops on fingertips, one palm crease, big toes widely spaced


What are some of the internal organ abnormalitieis with down syndrome?

congenital heart disease, enlarged colon, umbilical hernia, abnormal pelvis, diminishe dmuscle tone, unilateral or bilateral absence of one rib, intestinal blockage


What are the three types of chromosomal abnormalities associated with down syndrome?

1. full trisomy
2. mosaicism
3. translocation of 21 and 15 - fusion of the two leads to an extra 21


What causes the mosiac form of down syndrome?

nondisjunction following fertilization


What percentage of full trisomy likely results in spontaneous abortions or stillbirths?



During what weeks gestation are amniocentesis recommended if mom is older than 35?

14th and 16th weeks


What is the life expectancy in full trisomy 21?

40 yrs - usually signs of AD


What childhood cancer are people with down syndrome at higher risk for?



True or false: individuals with mosaic down syndrome are always milder cases.

false - they're usually milder, but it depends on the level and distribution of the trisomic cells - they could have full blown symptoms


Why are the genes that cause down syndrome exceptions to a rule?

usuall overexpression of genes has little effect due to the body's regulating mechanism for gene products. But down syndrome genes are overexpressed and cause a bad phenotype


What are the protein markers that suggest down syndrom on amniocentesis?

alpha fetoprotein
unconjugate oestriol
human chorionic gonadotropin
dimeric inhibin A