Lifespan- Multiple Diagnosis
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| When is Down syndrome often detected? | Before birth- screening & diagnostic tests
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| Diagnostic tests confirm Down Syndrome what percentage of the time? | >98%
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| What kind of tests are used to look for Down Syndrome? | Maternal blood tests; Detailed US; Nuchal translucency; Amniocentesis; Chorionic villus sampling (placenta tested); Percutaneous umbilical blood sampling (PUBS)
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| Why is nuchal translucency testing used? | US examines back of fetus' neck b/c fluid tends to accumulate in this area when Down syndrome or other chromosomal conditions are present
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| 4 General Treatment Keys | Family Education; Improving muscle tone generation; Balance training; Gait & mobility
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| Arthrogryposis | Congenital; Joint contractures; Incomplete/absent muscles/groups of muscles
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| What causes arthrogryposis? | Unknown; could be hyperthermic fetus, prenatal virus, fetal vascular compromise, septum of uterus, decreased amniotic fluid, mm & connective tissue development abnormalities
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| Are arthrogryposis children cognitively affected? | Usually very bright in less severe cases
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| Osteogenesis Imperfecta aka? | Brittle Bone Disease
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| Osteogenesis Imperfecta cause? Looks like? | Inherited disorder of connective tissue; Lax joints, weak mm, diffuse osteoporosis with recurrent & frequent fx
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| PT for Osteogenesis Imperfecta | Prevent deformity; Improve motor function; Safety; Education
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| Might Also Encounter What Types of Cases... | Idiopathic toe walking; Asphyxia (drowning/other cause); Congenital hip dislocations (acetabular dysplasia); MD; CF; Abuse; Legg Calve-Perthes; Seizures; Hydrocephalus w/ neuro complications; Fx's; Sports injuries
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