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Peds Disorders2
Mental/FAS/Prader/Down Syndrome/CF
| Question | Answer |
|---|---|
| Mental Retardation | subaverage Intellectual Functioning, existing concurrently with related limitations in 2 or more adaptive skill areas |
| Mental Retardation etiology | 350 types/variations categorized by; prenatal, perinatal, postnatal |
| Fetal-Alcohol Syndrom (FAS) | maternal ingestion of alcohol during pregnancy resulting in MR |
| Prader-Willi neuromuscular presentation | severe hypotonia, feeding problems in infants w/excessive eating & obesity in childhood, poor fine & gross motor coordination |
| FAS neuromuscular presentation | fine motor dysfunction, visual motor deficits, weak grasp, ptosis |
| FAS musculoskeletal presentation | maxillary hypoplasia, joint anomalies w/abnormal position & function |
| FAS cardiopulmonary presentation | heart murmer |
| Prader-Willi Syndrome | genetic disorder of gene deletion |
| Prader-Willi musculoskeletal presentation | short stature, small hands & feet |
| Prader-Willi cardiopulmonary presentation | R heart failure |
| Down Syndrome | trisomy 21-47 chromosomes, risk factors: mother over age 35 |
| Down Syndrome Clinical Presentation | physical presentation: flattened back of head, narrow eyes w/slanted eyelids, short stature, small mouth, hands & feet |
| Down Syndrome physiologic impairments, neurologic | hypotonia, cognitive impairments (microcephaly), sensory deficits, vision, hearing, speech, motor delay w/poor coordination, poor posture & balance |
| Down Syndrome physiologic impairments, cardiopulmonary | congenital heart defects common, decreased aerobic capacity & cough production |
| Down syndrome physiologic impairments, musculoskeletal | joint hyperflexibility w/ligamentous laxity (avoid high impact activities) |
| Down syndrome PT intervention; gross & fine motor delays | strengthening, midline orientation, trunk extension, righting & postural reactions, supportive devices |
| Down syndrome PT intervention; cardiopulmonary | fitness/endurance |
| Down syndrome PT intervention; generally involved from birth | consulted in school system as child grows |
| Cystic Fibrosis | complex autosomal recessive genetic disorder, obstructive pulmonary disease |
| CF: exocrine gland dysfunction | lungs primarily affected |
| CF: diagnosis | sweat analysis for high sodium chloride content |
| CF Clinical presentation | viscous secrfeations, hyperplasica & hypertrophy of mucus-secreting glands (excessive mucus production), airway obstruction, pulmonary involvement |
| CF PT intervention | secretion management & clearance; chest PT daily - breathing pattern, physical activity tolerance |