Hovland- Mental Retardation and Autism Flashcards

1
Q

IDD is classified by deficits in what 3 areas?

A
  1. Intellectual functioning
  2. Adaptive functioning
  3. Deficits occur in developmental period
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2
Q

What are adaptive functions?

A

Communication, social participation, independent living (social responsibility according to community standards)

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3
Q

What are the three domains and how are they connected to severity levels?

A

Conceptual, social and practical.

Severity levels are evaluated in these three categories.

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4
Q

What is the conceptual domain?

A

Ability to learn and remember what is learned

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5
Q

What is the social domain?

A

Maturity of social interactions, emotional/behavioral regulation, judgement, gullibility, ability to make life decisions

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6
Q

What is the practical domain?

A

ADLS, household tasks, employment, health care decisions, legal decisions, raising families

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7
Q

How does intellectual testing relate to IDD?

A

It is often de emphasized b/c it only addresses one domain of the three.

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8
Q

Is IDD more common in M or F? What is the most common age at diagnosis?

A

Males

10-14 years (good adaptation masks cognitive problems, school diagnoses problem late)

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9
Q

What percentage of IDD cases are d/t biological abnormalities and what percentage are unkown?

A

25% biologicial abnormalities
75% unkown

LSES are overrepresented d/t lack of prenatal care

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10
Q

What prenatal factors are high risk for IDD offspring?

A
  1. Rubella
  2. CMV
  3. Syphilis
  4. Toxoplasmosis
  5. Maternal Hepatitis
  6. Aids
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11
Q

What pregnancy complications can cause IDD?

A
Toxemia
Uncontrolled maternal diabetes
Maternal malnutrition
Issues w/ placenta/bleeding
Teratogens-thalidomide, chemo
Street drugs and alcohol- FAS, cocaine babies
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12
Q

What is FAS?

A

A non-genetic IDD disorder d/t prenatal environmental exposure

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13
Q

What are the discriminating features of FAS?

A
  1. short palpebral fissures
  2. flat midface
  3. short nose
  4. indistinct philtrum
  5. thin upper lip
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14
Q

What is down syndrome?

A

An IDD associated with a genetic abnormality

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15
Q

What are the discriminating features of down syndrome?

A
Flat back of head
Abnormal ears
Congenital heart disease 
Broad flat face
Slanting eyes
Simian crease (single line)
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16
Q

What are the three types of chromosomal abnormalities that lead to down syndrome?

A
  1. Full trisomy 21 (90% of DS)
  2. Mosaicism- Nondisjunction following fertilization–> normal and trisomic cells
  3. Translocation of 21 and 15- fusion of 2 chromosomes resulting in an extra chromosome 21, but a total of 46 chromosomes
17
Q

Children w/ down syndrome are at risk for what health issues?

A
  1. duodenal atresia
  2. cardiac anomalies (AV canal defect)
  3. myelo-proliferative disesases (leukemia)
  4. Visual problems
18
Q

What is Mosaic Down Syndrome?

A

Often associated milder sx and less obvious features of DS

19
Q

What are the markers for DS in aminocentesis screening?

A

Alpha fetoprotein
Unconjugated oestriol
HCG
Dimeric inhibin A

20
Q

What is the only known risk for Down Syndrome?

A

Advanced maternal age

21
Q

What are the key deficits in Autism?

A

Deficits in:

  1. Social communication
  2. Restricted, repetitive patterns of behavior/interests/activities
22
Q

When does Autism sx present?

A

Usually by 2 years of age–child develops normally up to that point then appears “off” developmentally

23
Q

How is social interaction deficit observed in autism?

A
  1. failure to develop relatedness
  2. no eye contact, doesn’t respond to smiling, uncomfortable being held, doesn’t attach to caregiver
  3. absence of empathy
  4. Absence of expressiveness
24
Q

What are autistic signs of social communication deficits early in life?

A
  1. abnormal babbling–clicks, screeches, nonsense syllables
  2. talk w/out comprehension
  3. Echolalia
25
Q

What are sign of communication defects in autism?

A

Responses to sensory stimuli:

  1. Over/under respond to pain /sound
  2. Appear deaf/respond to threshold sounds (watch)
  3. altered response to pain
  4. Enjoy vestibular stimulation (spinning/swinging)
26
Q

How do the incidence and severity of autism relate to gender?

A

Incidence is greater in M

Sever is greater in F

27
Q

What are the physical characteristics of autism?

A
  1. Shorter than average

2. Failure of hand lateralization, abnormal fingerprints

28
Q

How do organic biological abnormalities relate to autism?

A
  1. Increased perinatal complications
  2. Increased likelihood of multiple congenital anomalies in first trimester problems
  3. Ventricular enlargement
  4. nonspecific EEG abnormalities (failed cerebral lateralization)
29
Q

How do biochemical abnormalities relate to autism?

A
  1. Elevated serum 5HT in 1/3 cases
  2. Urinary bufotenine
  3. Thimerosal argument and vaccines
30
Q

How does the neocortex relate to autism?

A

Patches of disorganization in the neocortex are seen in children w/ autism

31
Q

What is the best treatment for Autism?

A
  1. Early diagnosis/intervention
  2. Language acquisition and communication
  3. Right school placement
32
Q

What is the prevalence of schizophrenia w/ onset in childhood?

A

M > F incidence unknown

Rarely before age 12, NOT under 5 years

33
Q

What is the clinical description of schizophrenia?

A

Oddities of behavior
IQ normal range
Hallucinations
Delusions

34
Q

What is Rett Syndrome?

A

Rare, only effects FEMALES.
Autism like sx occur after period of normal development in girls between 6 and 18 months. Mental and social development regresses.

35
Q

What is childhood disintegrative disorder?

A

More often in Males
Average onset 3-4 years
Loss of vocab is more dramatic than in autism.
Loss of bowel and bladder control, seizures, low IQ.

36
Q

What is the difference between CDD and Rett?

A

CDD has a longer period of normal development before regression (3-4 years) where as in Rett regression occurs (6-18 months)