Genetic/Medical Conditions Flashcards
Most common inherited cognitive impairment
Males mostly x linked
hypotonia, joint hypermobility, delayed motor milestones, poor coordination and motor planning, seizures, autistic spectrum disorder
Fragile X syndrome (genetic)
Elongated face, large ears and prominent mandible
Fragile X syndrome (genetic)
Early Failure to thrive
Hypotonia
Delayed milestones
Leading genetic cause of obesity
Excessive eating unless externally controlled
High incidence of scoliosis
Prader- Willi Syndrome (genetic)
Laughing behaviors, wide smiling mouth
Neurodevelopmental disorder, overall delays
Ataxia, jerky movements, puppet like gait
Angelman Syndrome (genetic)
progressive neurodevelopmental disorder
normal before 6-18 mo
Rapid decline in all areas, min language,
hand wringing and decreased hand function
May live to 40s or 50s
Rett Syndrome (genetic)
Deletion on chromosome 5
low set ears, possible webbing
eyes widely set
Better receptive than expressive language
May have congenital heart disease
Cognitive delay
Cri-du-chat syndrome (genetic)
Most often noncancerous tumors, grow on nerve tissue, also producing skin and bone abnormalities
skin neurofibromas beginning in puberty
Verbal and nonverbal learning disabilities
Deficits in IQ, attention, motor abilities, executive function
Neurofibromatosis (genetic)
Chromosome 7
Many medical, social, developmental issues
Low muscle tone, joint laxity
Williams syndrome (genetic)
Triad of symptoms
-growth deficiency
-cardiac defects
-CNS disturbances
-
Fetal alcohol syndrome (not genetic)
common cause of prenatal infections a herpes virus
Present like CP, seizure disorder, hearing problems, heart defects
Congenital Cytomegalovirus
Fragile X
Prader- willi
Angelman
Cri Du Chat syndrome
Fetal Alcohol syndrome
williams syndrome
down syndrome
all are associated with
Hypotonia
PT intervention for genetic conditions need to focus more on _____ or _____
remediation or compensation
Major focus of PT related to hypotonia is
gaining muscle stability
What are other strategies to address hypotonia?
decrease BOS
Progress sagittal, frontal, rotation
Weight shift to increase unilateral stability
increase proprioception with gentle downward sensory input
use 2 points of control for posture
implanted under skin near clavicle activated with handheld magnetic device
vagus nerve stimulator for seizure control
