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Peds Disorders2

Mental/FAS/Prader/Down Syndrome/CF

QuestionAnswer
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
Created by: jklincoln
 

 



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