neurodevelopmental Flashcards
prevalence of ASD
1/1000
medical condiitons are identifed in less than 5% of cases. Rett Fragile X Tuberous sclerosis Chrom 15 abnormailities
functional neurological sx disorder
aka conversion
sx are invol
prevalence of childhood onset fluencey DO
5%
percentage of school aged kids with ADHD
9-12%
2: 1 male to female
1. 6-1 ratio in adults
percentage of individuals with specific learning do who are male
60-80%
features of fetal alcohol syndrome
flat upper lip, flattened philtrum, flat midface
features of serotonin syndrome
brisk reflexes, htn, hyperthermia
MDMA/ecstasy can cause this
can mimic ADHD
beta agonist side effect ie albuterol
lead poisoning
anxiety and depresion
BPD
can cause steven johnson in kids
modafinil, not fda approved
selective mutism
an anxiety DO
needs 1 mo of sx, not due to other condition
Williams syndrome
microdeletion on chromosome 7
IDD, unique personality traits, distinctive facial features, cardiovascular problems.
elfin facies, starburst irises, short stature
very outgoing with cocktail party personality.
can have supravalvular aortic stenosis, MC cardiac anomaly
outgoing cocktail personality
Prader Willi
paternal absense of expression on chrom 15
obesity, developmental delay, feeding difficulties in infancy, short stature,, small hands and feet, hypogonadism
Tourette’s pathology
deficits in frontal cortex caudate nucleus, putamen, and thalamus
deficits in density in both neuronal and non neuronal cells ie glial cells
reduced levels of choline and N-acetylaspartate in putamen
lower concentration of N acetylaspartate BL
Lower creatining on r side and reduced myoinositol on left
10% yell obsence language (coprolalia)
IDD
2 standard deviations or more below population
IQ of 70 or below
mild-able to do self care, maintain home activities and only need support
moderate- academic level, require support to live independently or maintain employment
severe- litle understanding of written language, dependent on others full time
profound- limited ability to communicte, require high intensity supervision in all areas of life
clonidine
alpha 2 adrenergic receptor agonist
FDA approved for ADHD and HTN
off label= anxiety, insomnia ,tic disorder, ODD, ptsd, substance use withdrawal
secondary prevention
detects disease early when pts are asymtomnatic ie. HIV testing, screening for nutrition and exercise, depression screening, UDS
DiGeorge syndrome
deletion on chromosome 22q11
CATCH 22 Cardiac abnormalities Abnormal facies Thymic aplasia Cleft palate Hypocalcemia
developmental, speech delay
first pass elimination
extensive drug extraction and metabolism in liver immediately after gut absorption
ASD diagnosis
deficits in social communication/interaction + restricted repetitive behaviors
discontinuation syndrome with SSRIs
dizziness, confusion, nausea, abdominal cramps, sweating, dyesthesias, irritability
Fragile X syndrome
MC inherited cause of IDD
mutation in FMR1 gene on x chromosome
elongated face, large ears, enlarged testicles
typically mutation is CGG trinucleotide segment repeat
common comorbid ADHD, ASD, Anxiety DO
up to 73% have axis 1 psych disorder
common in Down syndrome pts
thyroid disorders. Should have FT4, TSH drawn at birth, 6 mo, 12 mo and annually
sleep apnea, hearing loss otitis media vision and eye disease hypodontia neurologic dysfunction gastrointestinal atresias hirschsprung dz hip dislocation autism celiac conditions hematologic conditions atlantoaxial instability
rumination syndrome
repeated vomiting, chewing, reingesting vomitus
does not occur during sleep
should not respond to standard medical therapy for reflux
guanfacine
more selctive alpha adrenergic than clonidine
less sedation and longer duration
shows reduced tics and ADHD at doses 0.5mg BID to 1mg TID
