neurologic and genetic disorders

define down syndrome

chromosomal disorder resulting in 47 chromosomes instead of 46 due to a trisomy at 21

what is the most common cause of intellectual disabilities

DS

risk factor for DS

advanced maternal age

environmental factors

Dx strategies during pregnancy for DS

alpha-fetoprotein

HCG

estrogen levels

Dx strategies after birth for DS

physical attributes

chromosomal testing

sensory deficits associated w/ DS

visual

hearing loss

prevalence of myopia in DS

50%

prevalence of farsightedness in DS

20%

types of visual deficits common w/ DS

congenital and adult-onset cataracts

myopia

farsightedness

strabismus

nystagmus

What is a common pathology associated w/ DS

heart defects (40%)

what heart defects are common w/ DS

ventriculoseptal defects

atrioventricular canal defecrs

when are DS associated heart defects repaired

in infancy

if DS associated heart defects are not corrected by what age is associated w/ motor skill delays

3 y

MSK differences for DS

growth deficits

hypotonia

ligamentous laxity

what causes lig laxity associated w/ DS

collagen deficit

What can lig laxity and hypotonia associated w/ DS lead to

• pes planus

• patellar instab

• scoliosis

• AA instab

physical characteristics of DS

• slightly flattened affect

• hair loss

• underdeveloped facial bones

• flattened nasal bridge

• narrow slanted eyes w/ epicanthal folds

• decreased mouth size

• single palm crease

• large gap between 1st and 2nd toe

therapeutic goals for DS

• minimize gross motor delays

• strengthen in all positions

• emphasize trunk ext and extremity loading

• righting and postural rxns

• facilitation developmental milestones when appropriate

• orthotic intervention for foot alignment (SMO/FO)

functional implications of hypotonia

motor delay

poor contraction

functional implications of slow postural rxns

balance impairments

slow rxn time

decreased speed

functional implications of joint hypermobility

instab

movement anxiety

functional implications of AA instab, scoliosis, foot deformities

decrease/limitations in activity participation

define prader willi syndrome

genetic disorder inherited from the father where partial deletion of chromosome 15 occurs

Dx strategies for PWS

• clinical eval and identification of characteristic symptoms

• genetic testing

PWS symptoms in infancy

• poor muscle tone

• distinct facial features

• poor sucking reflex

• poor responsiveness

• lethargic

common facial features in PWS

• almond shaped eyes

• narrowing of head

• turned down mouth

• thin upper lip

PWS symptoms in childhood/adulthood

• food craving and weight gain

• poor growth and physical development

• cog impairment

• delayed motor development

• speech problems

• behavioral problems

• sleep disorders

complications of PWS

obesity

inadequate hormone production

consequences of obesity for PWS

• constant hunger

• lower than average mm mass

• less active

• DM2

• high BP

• high cholesterol

• heart disease

• sleep anpea

consequences of inadequate hormone production for PWS

osteoporosis

Concerns for PT for PWS

• hypotonia

• delayed milestones

• decreased activity level

define Williams syndrome

rare genetic condition that affects chromosome 7

dx strategy for williams syndrome

clinical exam followed by genetic testing

facial features associated w/ williams syndrome

• large ears

• full cheeks

• small jaw

• small teeth

• wide mouth

• upturned nose

• epicanthal folds

symptoms of williams syndrome

• chronic ear infections and/or hearing loss

• dental abnorms

• elevated calcium level in blood

• hypothyroidism

• early puberty

• DM

• farsightedness

• feeding difficulties in infancy

• scoliosis

• sleep problems

• unsteady gait

PT concerns for williams syndrome

• hypotonia → developmental delays

• potential visual deficits

• smaller than average size

• early intervention important

define fragile X syndrome

inherited genetic disorder that leads to an abnormality in the X sex chromosome

physical features of fragile X syndrome

• large ears

• long face

• broad forehead

• soft skin

• joint laxity

• low tone

• flat feet

• high palate

behavioral characteristics of fragile X syndrome

• sensory processing issues

• poor eye contact

• ADHD and anxiety

• ASD

• aggression

• sleep disorders

cognitive characteristics of fragile X syndrome

• mild-severe learning disabilities

• speech and language delays

for fragile X syndrome, which gender typically has more severe symptoms

males

PT concerns for fragile X syndrome

• hypotonia

• flat feet

• motor delays

• early intervention important

cause of fetal alcohol syndrome

prenatal exposure to alcohol

common characteristics of fetal alcohol syndrome

facial abnormalities

intellectual disability

behavioral issues

common facial abnorms associated w/ fetal alcohol syndrome

• small head

• folds in upper eyelid

• low nasal bridge

• upturned nose

• smooth groove on upper lip

• underdeveloped jaw

• thin top lip

• flat midface

• “railroad track” ears

• small opening between eyelids

intellectual disabilities associated w/ fetal alcohol syndrome

memory issues

focusing on learning new skills (short attention span)

behavioral issues associated w/ fetal alcohol syndrome

hyperactivity

quick changing moods

neuromuscular impairments w/ fetal alcohol syndrome

• visual motor defects

• balance deficits

MSK impairments w/ fetal alcohol syndrome

• poor joint positioning and function

• poor growth

• delayed milestones

cardiopulm impairments w/ fetal alcohol syndrome

heat defects