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Social and Biobehavioral Medicine > Intellectual Disability, Autism and FAS > Flashcards

Intellectual Disability, Autism and FAS Flashcards

1
Q

What three areas much have deficits to be considered IDD?

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

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

A

communication, social participation and independent living

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3
Q

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

A

conceptual, social and practical

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4
Q

Describe the conceptual, or academic, domain in IDD?

A

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

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5
Q

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

A

the bayleye scales of infant and toddler development (III)

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6
Q

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

A

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

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7
Q

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

A

the Wechsler Intelligence Scale for Children (WISC-IV)

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8
Q

What is the MODERN way of computing IQ?

A

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

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9
Q

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

A

69 and lower

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10
Q

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

A

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

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11
Q

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

A

10-14

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

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12
Q

What percentage of ID cases are of unknown etiology?

A

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

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13
Q

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

A

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

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14
Q

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

A

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

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15
Q

What is cultural-familial retardation likely a result of?

A

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

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16
Q

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

A

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

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17
Q

What should be included in the differential diagnosis for IDD?

A

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

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18
Q

What are some of the facial features of FAS?

A

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

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19
Q

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

A

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

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20
Q

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

A

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

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21
Q

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

A

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

22
Q

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

A
  1. full trisomy
  2. mosaicism
  3. translocation of 21 and 15 - fusion of the two leads to an extra 21
23
Q

What causes the mosiac form of down syndrome?

A

nondisjunction following fertilization

24
Q

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

A

80%

25
Q

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

A

14th and 16th weeks

26
Q

What is the life expectancy in full trisomy 21?

A

40 yrs - usually signs of AD

27
Q

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

A

leukemias

28
Q

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

A

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

29
Q

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

A

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

30
Q

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

A

alpha fetoprotein
unconjugate oestriol
human chorionic gonadotropin
dimeric inhibin A

31
Q

What is the only known risk factor for Down syndrome?

A

advanced maternal age

32
Q

What are the three key areas of deficits in autism spectrum disorders?

A
  1. persistent deficits in social communication
  2. restricted, repetitive patterns of behavior, interests, or activities
  3. these have to present in early times of life
33
Q

At what age do autism symptoms usually present?

A

around 2 years of age is when they’re identified

34
Q

Which is usually better in autism, expressive or receptive language?

A

expressive (which is the opposite of normal)

35
Q

Which is more common in autism, hyperkinesia or hypokinesia,

A

hyperkinesia

36
Q

How is autism different form childhood disintegration disorder?

A

in autism the kids never develop normally, while in childhood didintegration disorder they develop normally until 2 and then lose previously held skills

37
Q

Which gender is autism more common in? More severe in?

A

more common in males, more severe in females

38
Q

Are autistic individuals, shorter or taller than usual?

A

shorter

39
Q

How is handedness affected in autism?

A

they lateralize much later or remaine ambidextrous

40
Q

How do autistic patients differ in terms of infections?

A

they have highe rincidence of URI, febrile seizues, constipation and diarrhea

may react differently - like won’t develop fever - due to autonomic nervous system difference

41
Q

What heart abnormality is common in autism?

A

ventricular enlargement and general EEG abnormalities

42
Q

What 2 biochemical abnormalities have been found in autism?

A

elevated serum serotonin

urinary bufotenine (serotonin metabolite)

43
Q

What gene has been found to play a role in autism?

A

HOXA1 - controls early brain development

44
Q

Are autism symptoms mroe severe when the child inherits the HOXA1 mutation from mom or dad?

A

mom

45
Q

What type of neuron is lost in both hemispheres in major cases of autism?

A

purkinje cells

46
Q

What happens in the neocortex of children with autism?

A

there are patches of disorganization

47
Q

What is the single most imporatn early intervention in autism?

A

language acquisition and communication

48
Q

Are the diagnostic crietia for schizophrenia different or the same for adults and kids?

A

they’re the same - it’s the only condition where that’s true

49
Q

Is the prognosis for schizophrenia with childhood onset better or worse than adult onset?

A

much worse

50
Q

What is the usual presentation of Rett Syndrome?

A

a young girl that has a period of normal development and then gets autism like symtoms between 6 and 18 months - she regresses

51
Q

What is the usual presentation for childhood disintegrative disorder?

A

a young boy that developed normally unil age 3-4 when he started to regress

Social and Biobehavioral Medicine (23 decks)

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