Hovland- Mental Retardation and Autism Flashcards
IDD is classified by deficits in what 3 areas?
- Intellectual functioning
- Adaptive functioning
- Deficits occur in developmental period
What are adaptive functions?
Communication, social participation, independent living (social responsibility according to community standards)
What are the three domains and how are they connected to severity levels?
Conceptual, social and practical.
Severity levels are evaluated in these three categories.
What is the conceptual domain?
Ability to learn and remember what is learned
What is the social domain?
Maturity of social interactions, emotional/behavioral regulation, judgement, gullibility, ability to make life decisions
What is the practical domain?
ADLS, household tasks, employment, health care decisions, legal decisions, raising families
How does intellectual testing relate to IDD?
It is often de emphasized b/c it only addresses one domain of the three.
Is IDD more common in M or F? What is the most common age at diagnosis?
Males
10-14 years (good adaptation masks cognitive problems, school diagnoses problem late)
What percentage of IDD cases are d/t biological abnormalities and what percentage are unkown?
25% biologicial abnormalities
75% unkown
LSES are overrepresented d/t lack of prenatal care
What prenatal factors are high risk for IDD offspring?
- Rubella
- CMV
- Syphilis
- Toxoplasmosis
- Maternal Hepatitis
- Aids
What pregnancy complications can cause IDD?
Toxemia Uncontrolled maternal diabetes Maternal malnutrition Issues w/ placenta/bleeding Teratogens-thalidomide, chemo Street drugs and alcohol- FAS, cocaine babies
What is FAS?
A non-genetic IDD disorder d/t prenatal environmental exposure
What are the discriminating features of FAS?
- short palpebral fissures
- flat midface
- short nose
- indistinct philtrum
- thin upper lip
What is down syndrome?
An IDD associated with a genetic abnormality
What are the discriminating features of down syndrome?
Flat back of head Abnormal ears Congenital heart disease Broad flat face Slanting eyes Simian crease (single line)
What are the three types of chromosomal abnormalities that lead to down syndrome?
- Full trisomy 21 (90% of DS)
- Mosaicism- Nondisjunction following fertilization–> normal and trisomic cells
- Translocation of 21 and 15- fusion of 2 chromosomes resulting in an extra chromosome 21, but a total of 46 chromosomes
Children w/ down syndrome are at risk for what health issues?
- duodenal atresia
- cardiac anomalies (AV canal defect)
- myelo-proliferative disesases (leukemia)
- Visual problems
What is Mosaic Down Syndrome?
Often associated milder sx and less obvious features of DS
What are the markers for DS in aminocentesis screening?
Alpha fetoprotein
Unconjugated oestriol
HCG
Dimeric inhibin A
What is the only known risk for Down Syndrome?
Advanced maternal age
What are the key deficits in Autism?
Deficits in:
- Social communication
- Restricted, repetitive patterns of behavior/interests/activities
When does Autism sx present?
Usually by 2 years of age–child develops normally up to that point then appears “off” developmentally
How is social interaction deficit observed in autism?
- failure to develop relatedness
- no eye contact, doesn’t respond to smiling, uncomfortable being held, doesn’t attach to caregiver
- absence of empathy
- Absence of expressiveness
What are autistic signs of social communication deficits early in life?
- abnormal babbling–clicks, screeches, nonsense syllables
- talk w/out comprehension
- Echolalia
What are sign of communication defects in autism?
Responses to sensory stimuli:
- Over/under respond to pain /sound
- Appear deaf/respond to threshold sounds (watch)
- altered response to pain
- Enjoy vestibular stimulation (spinning/swinging)
How do the incidence and severity of autism relate to gender?
Incidence is greater in M
Sever is greater in F
What are the physical characteristics of autism?
- Shorter than average
2. Failure of hand lateralization, abnormal fingerprints
How do organic biological abnormalities relate to autism?
- Increased perinatal complications
- Increased likelihood of multiple congenital anomalies in first trimester problems
- Ventricular enlargement
- nonspecific EEG abnormalities (failed cerebral lateralization)
How do biochemical abnormalities relate to autism?
- Elevated serum 5HT in 1/3 cases
- Urinary bufotenine
- Thimerosal argument and vaccines
How does the neocortex relate to autism?
Patches of disorganization in the neocortex are seen in children w/ autism
What is the best treatment for Autism?
- Early diagnosis/intervention
- Language acquisition and communication
- Right school placement
What is the prevalence of schizophrenia w/ onset in childhood?
M > F incidence unknown
Rarely before age 12, NOT under 5 years
What is the clinical description of schizophrenia?
Oddities of behavior
IQ normal range
Hallucinations
Delusions
What is Rett Syndrome?
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.
What is childhood disintegrative disorder?
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.
What is the difference between CDD and Rett?
CDD has a longer period of normal development before regression (3-4 years) where as in Rett regression occurs (6-18 months)