Down Syndrome 1958 Jerome Lejeune and his team identified trisomy 21 47 chromosomesone extra chromosome 21 in cells as cause of Down Syndrome Only 2 years after it was discovered that the typical number of ID: 673038
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Neurodevelopmental syndrome named for John Langdon Haydon Down who first described the physical and behavioral characteristics in 1862
Down SyndromeSlide2
1958 Jerome Lejeune and his team identified trisomy 21 (47 chromosomes-one extra chromosome 21 in cells) as cause of Down Syndrome
Only 2 years after it was discovered that the typical number of humanchromosomes was 46
Down SyndromeSlide3
Human Karyotype (picture of chromosomes that hold genes) Slide4
Meiosis
Watch Video
Herehttps://www.youtube.com/watch?v=nMEyeKQClqISlide5
Down Syndrome
Typical cell division- 46 chromosomes
Non-
dysjunction
cell division-47 chromosomesSlide6Slide7
Down Syndrome
90-95% full trisomy from
nondysjunction of maternal origin during meiosis2-4% translocation (usually 13-15 or 21-22)2-4% mosiacism
nondysjunction
occurs after fertilization resulting in two different cell linesSlide8Slide9
Health in Down Syndrome
Heart:
40-60% born with abnormal heartsSlide10
Eyes: cataracts and glaucoma5% Cataracts
1% GlaucomaNear-sightedness
Ears: hearing loss30-75% by preschoolHealth in Down SyndromeSlide11
Thyroid: low thyroid
30% by 25 years Gut: celiac disease (wheat allergy)4-7%
Immune dysfunction:autoimmune/leukemiaHealth in Down SyndromeSlide12
Brain: Seizures 8%-50% by 50 years
Sleep apneaDevelopmental delays/learning differences
Down SyndromeSlide13
Development in Down Syndrome
Social and self help skills usually on track early and often remain strengths
Motor skills (sitting, walking, running) delayed due to low muscle tone, joints Language skills often start on time, but usually slow in second year and affect talking more than understandingSlide14
Early Communication Skills in DSSlide15
Academic/cognitive skills usually lower than adaptive/every day skills, which show improvement through mid-adulthood
Onset Alzheimer dementia (losing memory and skills) 10 years earlier than general populationDiabetes/obesity
Less cardiovascular diseaseLower blood pressureDown Syndrome Slide16
Social supports, cognitive skills, emotional and physical health predict adaptive function and employment
Development in Down SyndromeSlide17
Kumin et al (2015) J of Applied Research in Intellectual Disability
57% employed (3% full time)20% volunteered3% self-employed
30% unemployedDown SyndromeSlide18
Down Syndrome and other diagnoses
Autism spectrum disorders thought to occur in 10% of people with Down Syndrome
ADHD thought to occur in 6-8% of people with Down SyndromeOther behavioral diagnoses in 10-15%Slide19
Research at MIND: Vocabulary
Kover et al. J Speech, Lang, Hear Res (2012)Slide20
Research at MIND:Language
Syntax
Kover et al. J Speech, Lang, Hear Res (2012)Slide21
EXPRESSIVE LANGUAGE SAMPLING CONSORTIUM SITES
(n = 36-60 per site)Slide22
Research in Down Syndrome
Alzheimer neuropathology
Acetylcholinesterase inhibitors? Studies showing improvements in speech, communication, attention and mood stability with donepezil (Aricept) in open label study, less significant differences in DB/PC study on dementia and adaptive behaviors but still some improvementsNMDA receptor antagonists?Studies with Memantine not clear re: benefit