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cri du chat syndrome
initially presents with hypotonia
facial abnormalities
UE abnormalities
scoliosis/congenital heart disease
cornelia delange syndrome characterized by
limb abnormalities
microcephaly
spasticity
intention tremor
seizures
clindactyly of fifth finger
respiratory and GI problems, congenital heart disease
fragile X characterized by
poor coordination and motor planning
tremor/ataxia
ADD
anxiety
seizures
connective tissue abnormalities
mitral valve prolapse
autism
hurler syndrome characterized by
hydrocephalus
joint contracture
visual deficits
kyphosis
shallow acetabular and glenoid fossa
cardiac deformities
lesch-nyhan syndrome characterized by
spasticity
chorea
athetosis
dystonia
compulsive self-injury behavior
rett syndrome characterized by
deceleration of head growth
loss of skills after 6-18 mo
scoliosis
growth failure
hyperventilation and breath holding
rett syndrome
seen in girls
misdiagnosed as autism
williams syndrome characterized by
hypersocialability
mild neuralgic dysfunction
hypotonia
cerebellar dysfunction
fascial abnormalities
connective tissue abnormalities
aortic stenosis
HTN
mitral valve prolapse
angelman syndrome characterized by
hypotonia
seizures
developmental delay
ataxia/balance problems
lack of speech
behavior problems
__are common in children with intellectual disabilities
motor delays
early signs of motor delay/intellectual disabilites
lack of/poor head control
lack of/poor trunk control
disintrest in movement
6 components of learning in children with intellectual disabilities
the capability to learn a few things
need for greater number of reps
greater difficulty generalizing skills
greater difficulty maintaining skills not practiced
slower response time
limited repertoire of responses
early switch introduction
simplifies access for children with limited motor control or cognitive ability
provide immediate cause-effect feedback
early switch introduction is gateway to
adapted toys
AAC access
environmental control
powered mobility
normalization
improve underlying motor control when possible
compensation
support participation through adaptive toys when motor limits create barriers
switched based intervention
promote early mobility and exploration
increase repetition and engagement
support posture control and UE/head use when mounted