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Genetics: DS

Inheritance: What are the 3 Genetic Types of DS? 1)nondisjunction- an extra copy of Chrom.21 (95% of cases) 2)Mosaicism- non disjunction happens in some,but not all cell divisions(1% of cases) 3)Translocation- part of chrom. 21 attaches to chrom 14.(4% of cases)
What are the causes of DS? No known cause. Older mothers have a higher chance.
Physical Symptoms of DS... Underdevelopment of the midface; flattening of the back of the head; slanting of the eyelids; skin fold at inner corner of the eyes;small lower jaw relative to upper jaw; depressed bridge of nose;small outer ears; small ear canal; single line across palm
more physical symptoms... low muscle tone; loose ligaments; decreased muscle strength; short arms & legs; short stature; and colored spots in the iris of the eye
Medical conditions of DS... congential heart disease; hearing; visual; skin conditions; immflammation of the gumms; spleep apnea; leukemia; seizure disorders; Skeletal difficulties; englarge tonsils; thyroid problems, metabolic problems; & gastrointestinal problems
Communication in DS... learn best visually; vocab. more developed than morphosyntax; receptive lang. more advancded than expressive; slower progression of speech development with articulation difficulty; otitis media; stuttering/dysfluency; voice production (hoarsy/breathy)
Factors influencing speech development... processing; low muscle tone; motor planning; enlarged tonsils; open mouth posture; high narrow palate; large tongue
Team for DS... SLP, Teachers, Family, Audiologist, Occupational therapist; feeding specialist; ENT, Pediatrician
Created by: 1194630055