Developmental Differences Flashcards
Rett syndrome
mutation of MECP2 gene on x chromes
4 stages of motor decline
Stage 2 is when skills start going away
Symptoms of rest syndrome
hand stereotypes
emotional dysregulation
hypotonia that may fluctuate
Rett syndrome strengths
cognition is often not impaired
Fragile X syndrome
genetic x-linked dominant genetic disorder
More common In males
Fragile X symptoms
low tone
hypermobile joints
prominent ears
long narrow face
hyperarousal
tactile defensiveness
decreased executive function
Fragile X strengths
empathetic
visual spatial
vocabulary
Down syndrome
chromosome 21
three types: trisomy, translocation and mosaic
Down syndrome symptoms
low tone
short
decreased cognition
delayed motor skills
often low sensory registration
Down syndrome strengths
strong emotional skills
charming
string visual memory skills
Williams syndrome
genetic disorder
7th chromosome
Williams syndrome symptoms
cardiovascular difficulties
hypersensitive to sound
decreased cognition
impulsive
joint abnormality
Comorbidities: ADHD , GAD
Williams syndrome strengths
long term memory
Nuerofibromatosis
mutations in the gene that controls the production of neurofibromin
on chromosome 17
Neurofibrotosis symptoms
neurofibromas throughout the body
bone deformities
macrocephaly
cardiovascular and neurological concerns
cognition
pain
Prader Willi
genetic- chromosome 15
Prader Willi Symptoms
reward seeking- food hoarding
hypotonia
short
small hands
low regiatrtaion-interoception
decreased motor skills
comorbidities AD and OCD
Prader Willi strengths
visual spatial
long term memory
FASD
spectrum disorder based on alcohol consumption during pregnancy
FASD symptoms
Neurobehavioral- poor self and emotional regulation
Decreased cognition
poor sleep
impulsive
often ADHD
FASD Strengths
creative
musical
artistic
Developmental coordination disorder
neurodevelopment diagnosis
dyspraxia/ motor planning
DCD symptoms
difficulty motor planning in all occupations
messy eaters
often fatugues
Lower tone and increased effort for motor planning
possibly occurring with ADHD and ASD
Angelmans syndrome
Genetically caused by deficiency of ubiquitin-protein ligase 3A gene (UBE3A) in the CNS
Angelmans symptoms
distinctive gait- marionette like toe out gait
attraction to water
motor and cognitive delays within first year
sleep, feeding, ADL’s and IADL challengesAn
Angelman strengths
long-term memory