Genetics: DS
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each of the black spaces below before clicking
on it to display the answer.
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| 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)
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| What are the causes of DS? | No known cause. Older mothers have a higher chance.
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| 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
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| 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
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| 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
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| 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)
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| Factors influencing speech development... | processing; low muscle tone; motor planning; enlarged tonsils; open mouth posture; high narrow palate; large tongue
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| Team for DS... | SLP, Teachers, Family, Audiologist, Occupational therapist; feeding specialist; ENT, Pediatrician
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