Intellectual Disability, Autism and FAS Flashcards
What three areas much have deficits to be considered IDD?
- intellectual functioning
- adaptive functioning (social, conceptual, practical)
- 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?
10-14
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?
- full trisomy
- mosaicism
- 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?
80%
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?
leukemias
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
What is the only known risk factor for Down syndrome?
advanced maternal age
What are the three key areas of deficits in autism spectrum disorders?
- persistent deficits in social communication
- restricted, repetitive patterns of behavior, interests, or activities
- these have to present in early times of life
At what age do autism symptoms usually present?
around 2 years of age is when they’re identified
Which is usually better in autism, expressive or receptive language?
expressive (which is the opposite of normal)
Which is more common in autism, hyperkinesia or hypokinesia,
hyperkinesia
How is autism different form childhood disintegration disorder?
in autism the kids never develop normally, while in childhood didintegration disorder they develop normally until 2 and then lose previously held skills
Which gender is autism more common in? More severe in?
more common in males, more severe in females
Are autistic individuals, shorter or taller than usual?
shorter
How is handedness affected in autism?
they lateralize much later or remaine ambidextrous
How do autistic patients differ in terms of infections?
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
What heart abnormality is common in autism?
ventricular enlargement and general EEG abnormalities
What 2 biochemical abnormalities have been found in autism?
elevated serum serotonin
urinary bufotenine (serotonin metabolite)
What gene has been found to play a role in autism?
HOXA1 - controls early brain development
Are autism symptoms mroe severe when the child inherits the HOXA1 mutation from mom or dad?
mom
What type of neuron is lost in both hemispheres in major cases of autism?
purkinje cells
What happens in the neocortex of children with autism?
there are patches of disorganization
What is the single most imporatn early intervention in autism?
language acquisition and communication
Are the diagnostic crietia for schizophrenia different or the same for adults and kids?
they’re the same - it’s the only condition where that’s true
Is the prognosis for schizophrenia with childhood onset better or worse than adult onset?
much worse
What is the usual presentation of Rett Syndrome?
a young girl that has a period of normal development and then gets autism like symtoms between 6 and 18 months - she regresses
What is the usual presentation for childhood disintegrative disorder?
a young boy that developed normally unil age 3-4 when he started to regress
