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Multiple Diagnosis

Lifespan- Multiple Diagnosis

When is Down syndrome often detected? Before birth- screening & diagnostic tests
Diagnostic tests confirm Down Syndrome what percentage of the time? >98%
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)
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
4 General Treatment Keys Family Education; Improving muscle tone generation; Balance training; Gait & mobility
Arthrogryposis Congenital; Joint contractures; Incomplete/absent muscles/groups of muscles
What causes arthrogryposis? Unknown; could be hyperthermic fetus, prenatal virus, fetal vascular compromise, septum of uterus, decreased amniotic fluid, mm & connective tissue development abnormalities
Are arthrogryposis children cognitively affected? Usually very bright in less severe cases
Osteogenesis Imperfecta aka? Brittle Bone Disease
Osteogenesis Imperfecta cause? Looks like? Inherited disorder of connective tissue; Lax joints, weak mm, diffuse osteoporosis with recurrent & frequent fx
PT for Osteogenesis Imperfecta Prevent deformity; Improve motor function; Safety; Education
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
Created by: 1190550002