Term
| Definition of Down Syndrome |
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Definition
| chromosome abnormality which occurs spontaneously and leads to motor and cognitive deficits (associated w/ advanced maternal age) |
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Term
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Definition
| screening during pregnancy (maternal serum-alpha-fetoprotein); within days of birth (characteristic facial features, hypotonicity/flaccidity) |
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Term
| Classification (in order of prevalence) |
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Definition
1. trisomy 21
2. mosaic - combo of normal and trisomy 21
3. translocation - breakage of 2 nonhomologous chromosomes w/ reattachment of broken pieces to other intact chromosome pairs |
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Term
| delayed development influenced by: |
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Definition
| moderate to severe congenital heart dz; degree of hypotonia; prolonged reaction time and greater variability in timing of muscle activation; delayed righting and equilibrium reactions |
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Term
| sitting alone milestone for DS |
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Definition
| 10 mo. average (6-28 mo. range) |
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Term
| creeping milestone for DS |
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Definition
| 15 mo. average (9-27 mo. range) |
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Term
| Standing milestone for DS |
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Definition
| 20 mo. average (11-42 mo. range) |
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Term
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Definition
| 24 mo. average (12-65 mo. range) |
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Term
| Neuropathology associated conditions |
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Definition
| dec. brain wt (smaller brainstem and cerebellum), delayed cerebellar maturation, lack/delayed myelination, inc. in distance of synapses, signs in brain of premature aging (earlier onset of aging characteristics like dec. vision, dementia, alzheimer's, etc.) |
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Term
| Cardiopulmonary associated conditions |
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Definition
| 40% have congenital heart dz, AV canal defects and ventricular septal defects usually repaired surgically within first year, patent ductus arteriosus, most to all infants with DS prior to 3 mo. of age are seen by pediatric cardiologist |
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Term
| Hearing and vision associated conditions |
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Definition
| anatomic changes of ear canal lead to conductive hearing loss, increased ear infections (delayed speech), congenital cataracts lead to vision impairments |
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Term
| Musculoskeletal associated conditions |
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Definition
| subluxation and dislocation (instability of patella-femoral joint, sublux of hip, dislocation of atlantoaxial joint - laxity of transverse odontoid ligament); inc. ligamentous laxity; absence of muscles (ie palmaris longus and facial muscles); foot deformities (pes planus) |
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Term
| Musculoskeletal precautions |
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Definition
| no strenuous gymnastics (no forward roll/somersaults), no contact sports, no diving, restricted use of trampolines |
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Term
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Definition
| thyroid dsyfxn (usu. hypo-), CV disorder (mitral valve prolapse), obesity (sedentary lifestyle, excessive caloric intake, lack of social/community interactions), musculoskeletal (arthritis, hip instability, osteoporosis) |
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Term
| Earlier signs of aging in DS |
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Definition
| balance issues, motor tasks more difficult, dec. strength and endurance, vision and hearing decline, early onset of conductive hearing loss and visual impairment, alzheimer's, depression |
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Term
| Recommendations for adults w/ DS |
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Definition
| consistent exercise, good diet, community involvement, regular health examination |
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Term
| Examination of oral-motor control (feeding in infants) |
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Definition
| poor sucking and swallowing secondary to hypotonia; small space in mouth (short/narrow palate); hypoactive gag reflex (affects aspiration); chewing problems (eat softer foods) |
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Term
| Examination of musculoskeletal system |
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Definition
1. joint and ligamentous laxity (defects of c.t. and abnormal protein structure of ligaments and tendons)-ROM
2. scoliosis of thoracolumbar region (delayed skeletal maturation and short stature) |
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Term
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Definition
| hypotonia associated w/ lower wt. in cerebellum and brainstem, contributes to motor and speech delays, contributes to lessened degree of kinesthetic feedback |
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Term
| Examination of sensory system |
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Definition
| visual motor deficits, balance deficits including delayed postural responses to loss of balance |
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Term
| Examination of motor performance |
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Definition
| dec. spontaneous kicking, wide base of support for all activities, mov't in straight planes (lack rot. and control of mov't), coactivation of muscles for stability, latency of responses (postural and motor) |
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Term
| Examination of social-emotional/play |
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Definition
| look at toys but spend less time manually or orally exploring toys, have more aimless behavior, play less w/ toys |
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Term
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Definition
| inc. fxnal abilities, inc. amt and variability of mov't experiences, dec. reliance of extreme ROM by strengthening muscles, prevent and monitor secondary conditions, foster independence in mobility and self-care, find community resources for fitness activity/support groups/respite care |
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Term
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Definition
| direct PT for short amts of time w/ specific goals; early intervention groups, special rec groups used to enhance mobility; assessment of work placements and living situations |
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Term
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Definition
0-3 y/o: EI
3-5 y/o: transition to school
5-12 y/o: set up fitness program or integrating child into sports/rec prog.
12-18 y/o: mobility in h.s., PT may be part of vocational training and work place eval., tranportation to/from work
Adult: intermittent eval of mobility and self-care skills in supervised or indep. living situation; changes in living situations due to aging parents; degen. of CNS and resultant mobility limitations |
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Term
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Definition
| surgical repair of heart defects in infancy; hearing aids/glasses; pharmacology intervention as necessary for thyroid, arthritis, neurological dysfxn as pt ages |
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