what are the neurotransmitter differences observed in autism?
hyperserotonemia (increased serotonin levels in the blood)
glutamata and GABA: decreased activation and abnormalities in receptors
how likely is the regression onset of autism?
20-47%
Heller’s syndrome
childhood disintegrative disorder
important to distinguish from autism
klinefelters syndrome comorbidities
medical
psychiatric
hypogonadism, infertility, osteoporosis, metabolic syndrome (which encompasses type 2 diabetes, high blood pressure, and high cholesterol), and cardiovascular disease.
depression, anxiety, and attention/behavioral issues like ADHD and autism spectrum disorder
what 2 meds have been approved by the FDA to treat irritability in ASD?
aripiprazole
risperidone
what is comorbidity of autism in fragile x?
common
estimates are variable - 50-90% of pts with FX have autism symptoms
ratio of M to F in ID
1.5:1
due to rate of X-linked syndromes like Fragile X
list some genetic disorders associated with ID
Tay Sachs
Fragile X
Down syndrome
Williams syndrome
maple syrup urine disease
Prader-Willi
Angelman syndrome
Klinefelter syndrome
TSC
list acquired causes for intellectual disability
prematurity/low birth weight
prenatal exposure to alcohol/drugs
toxins
TBI
infections
iodine deficiency
stroke
spilepys
meningitis
whooping cough
anoxia
what is the leading worldwide cause of ID?
iodine deficiency causing thyroid hormone deficiency in pregnancy
what testing is recommended for ID?
chromosomal microarray - or genetic testing based on phenotype
fragile X testing
testing for inborn errors of metabolism
brain MRI in some cases
what are rates of mild, moderate, severe, and profound ID?
85% mild ID
10% moderate ID
3-4% severe ID
1-2% profound ID
example of how transmission patterns impact phenotype of ID
both Angelman and Prader Willi are caused by probs with Chromosome 15
Angelman: deletion on 15 inherited from mother; ID, sleep probs, seizures, jery mvmts, laughter/smiley, happy
Prader Willi: deletion on 15 from father or 2 copies of 15 from mother; low muscle tone, short stature, incomplete sexual dev, ID, compulsive behaviors,
tell me about the stability of iq in ID
generally stable but can decline in older age on Fragile X and Down Syndrome, esp when alzheimers develops in DS
maple syrup urine disease
inborn error of metabolism
cause of ID
affects the metabolism of amino acids leucine, isoleucine, and valin
name several conditions in which NVLD is characteristic neuropsych profile
22q
congenital hydrocephalus
Turner syndrome
epidemiology of LDs
15-20% of US population
13-14% of students
85% of LDs are reading
boys 1.5x more likely to have reading disab. than girls
what are skill deficits that persist even with early dyslexia intervention?
phonological processing
automaticity of word recognition
reading fluency
how early are differences in brain function observed in kids who end up with dyslexia?
in infancy!
what are neuroanatomical differences in people with dyslexia?
reduced symmetry of the planum temporale (same location as Wernicke’s area)
polymicrogyria of planum temporale
cortical dysplasias in L hemisphere
what is the neural signature of dyslexia?
underactivation in Wernicke’s, angular gyrus, and striate cortex
overactivation in inferior frontal gyrus
co-occurrence of reading and math disabilities?
25-40% going both directions
what % of kids show late-emerging reading disorders? deficits starting ~ 4th grade
40%
during transition of learning to read to reading to learn
what are common neuropsych deficits in people with reading disability?
phonological awareness
listening comprehension
general knowledge
auditory verbal span
EF
Processing speed
word retrieval (RAN)
fluency
