Saturday, November 25, 2017

PT Pathologies: Down Syndrome

Down syndrome occurs when the cell division is interrupted by an error and results in 47 chromosomes.  The 21st pair of chromosomes in the chain is responsible for Down Syndrome.  This happens either by mosaicism, nondisjunction, or translocation during the division of the cells.  Diagnosis of Down Syndrome can be done while in vitro or following birth.  In vitro is performed via amniocentesis or lab work or by karyotype test following birth to confirm the diagnosis.  Furthermore, the presentation of the infant provides much of the diagnostic clues.  For example, a Down Syndrome baby presents with a myriad of issues: simian line, hypotonia, almond shaped eyes, congenitial heart disease, developmental delays, large tongue, abnormally shaped ears, flattened nasal bridge, mental retardation, and epicanthal folds.  Down syndrome is challenged by a variety of health conditions and problems that can require intervention for life.

        A child with Down Syndrome experiences deficits in many areas resulting in the need for a team approach for providing care.  This can include therapies (PT, OT, ST, Behavioral and Emotional), Pharmacological and medical team members.  Physical therapy in early development is needed in order to either help the child learn to roll over, crawl, grasp, or walk or compensate in another manner for the inability to progress normally.  The disease progresses and can include more complications such as cardiac, immune system, and pulmonary issues along with Alzheimer's disease.  Individuals with Down syndrome generally live to be 55.

        Physical Therapy helps a child with Down Syndrome to improve function within the community, home and school.  Physical therapies focus for a child is on gross motor skills especially those sitting, jumping, running, or walking.  Physical therapy will assist with improving strength as well as instructing optimal movement patterns.  The goals for a child with Down Syndrome should include a foundation for continuation of exercise for life.  As a physical therapist, the goal should be to help child create tasks and activities that are easier for them. Finally a major goal should be to include the parents in all facets of the treatment plan for consistency.

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