Developmental Notes Flashcards
What are the characterizations of cerebral palsy? Diagnostic test?
motor dysfunction w/ variable impact on other domains
MRI is diagnostic test-shows periventricular leukomalacia.
Spastic diplegia is a form of what?
cerebral palsy
What are the 3 domains where you might see delay in autism?
social: best indicator: no pointing, looking back
language: echolalia, delays, scripting
behavioral: specific routines, rituals, hand flapping
When do you do MCHAT screening?
18-24 mo
failure means that you need some further screening.
Red flags for autism?
no babbling by 1 year
no 1word by 15 months
no 2 word sentences by 2 years
or loss of language/social skills
What is the adjunct workup for autism?
hearing test
lead level
genetic testing (fragile x)
EEG/MRI
Treatment for sleep issues or anxiety?
hydroxyzine H1 antagonist
What is Asperger’s?
autism spectrum disorder w/o language impairment
social interaction is professorial or pedantic.
social difficulties
Rett disorder?
normal development until 5 months
then decreased head growth and loss of previous learned motor skills 5mo-30mo
then hand wringing or washing will begin
What is the abnormal workup for Rett disorder?
EEG abnormal
MECP gene
only seen in females
monozygotic twins 100% concordance.
what are the 3 domains to consider in ADHD? what are the requirements for diagnosis?
domains: inattention, hyperactivity, impulsivity
>6 symptoms in 2 or more settings for at least 6 mo
before age 12
What is one thing that has to be ruled out in ADHD diagnosis?
lead poisoning
What is the definition of intellectual disability?
IQ
What is the number genetic cause of ID?
Trisomy 21
What are the features of Down’s syndrome?
heart defects: AV defect, VSD, ASD GI: duodenal atresia, constipation, Hirsphrung's cryptochordisim hypothyroidism neonatal hypotonia visual hearing issues atlanto-axial instability
what is cryptochordism?
no testes in the scrotum
What are the features of hypothyroidism in down’s syndrome?
prolonged jaundice
hypotonia
constipation
macroglossia
What are some of the physical features of down’s syndrome?
brushfield spots (grey spots on iris) microcephaly epicanthal folds upward slanting palpebral fissures wide spaced toes
What are some of the consequences of atlanto-axial instability in down’s syndrome?
compression of spinal cord
torticollis (head persistently turned to one side)
urinary incontinence
vertebrobasilar symptoms (spasticity, hyperreflexia, + babinski sign)
What is the 2nd most common genetic cause of intellectual disability? Most common inherited form of ID?
Fragile X
What are the features of Fragile X?
large jaw long face large testicles big ears big hands FMR1 trinucleotide expansion
In female carriers of Fragile X… higher rates of what?
psychiatric disorders
What’s the deal with Prader-Willi?
Mom takes over. Dad deletion of chromosome 15 overweight pt, hyperphagia almond-shaped eyes hypogonadism hypotonia argumentative, aggressive
What’s the deal with Angelman syndrome?
Dad takes over, Mom deletion of chromsome 15
Happy puppet
inappropriate laughter, jerky movements, seizures, ataxia
What’s the deal with Williams syndrome?
elfin facies well developed verbal skills hypercalcemia (too much santa milk) extreme friendliness with strangers like will ferrell
What’s the deal with tuberous sclerosis?
seizures
angiofibromas
What are the features of FAS?
microcephaly
smooth philtrum
thin upper lip
ID
What is oppositional defiant disorder?
less bad than conduct disorder
frequent loss of temper
arguments with adults
annoying people, anger, resentment
What is conduct disorder?
antisocial personality disorder for children
persistent violation of the rights of others
What is disruptive mood dysregulation disorder?
severe pervasive irritability and poor frustration tolerance
temper outbursts
unlike ADHD, no hyperactivity, inattention, disorganization
What are the requirements for tourette’s?
multiple motor tics and at least one vocal tic
onset before age 18
tic free period
What brain changes do you see in Tourette’s?
impaired regulation of dopamine in the caudate nucleus