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What’s up with Down Syndrome?

What’s up with Down Syndrome?. Sheryl Kho M.D. PGY-3. Origins. 16th century 1866, Dr. John Langdon Down Superintendent Earlswook Asylum for children with MR Surrey, England Cretins vs. “mongoloids”. Dr. John L. Down. Origins.

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What’s up with Down Syndrome?

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  1. What’s up with Down Syndrome? Sheryl Kho M.D. PGY-3

  2. Origins • 16th century • 1866, Dr. John Langdon Down • Superintendent Earlswook Asylum for children with MR • Surrey, England • Cretins vs. “mongoloids”

  3. Dr. John L. Down

  4. Origins • 1930: Waardenberg & Bleyer- speculated DS could be due to a chromosome abnormality • 1959: Jerome Lejeune & Patricia Jacobs- determined cause to be trisomy 21

  5. Genetics • Chromosomal disorder, triplication of chromosome 21

  6. Genetics

  7. Genetics

  8. Genetics

  9. 21st Chromosome & Down Syndrome • Overexpression of genes  increased production of certain products • Genes that may have input into DS: • SOD1-superoxide dismutase 1; premature aging, decreased immune system • COL6A1-heart defects • ETS2-skeletal abN, leukemia • DYRK- mental retardation • CRYA1- cataracts

  10. Epidemiology • 1 in 800 births • 6000 born per year • 75% die in conception, 85% survive up to 1 year, 50% survive up to age 50 years • No race • 1.15 males to 1 females (free Tri 21)

  11. Risk Factors/Causes • Maternal age • Age of 35, 1 in 385 • Age of 40, 1 in 106 • Age of 45, 1 in 30

  12. Diagnosis • Prenatal • Amniocentesis • PUBS • CVS

  13. Diagnosis • Postnatal • PHYSICAL EXAMINATION!

  14. Diagnosis

  15. Diagnosis • Karyotype FISH

  16. Medical Issues • a LOT!

  17. HEENT Issues • H: abnormal head shape, large fontanelles with delayed closure • E: congenital cataracts, “Brushfield spots”, congenital glaucoma, refractive errors, strabismus • E: hearing loss (78%), otitis media (70%)

  18. HEENT Issues • N: flat bridge, infections, midfacial hypoplasia  OSA • T: cheilitis, malformed teeth, protruding tongue

  19. Neck • Atlantoaxial instability (14%) • Spinal cord compression (2%)

  20. Thyroid • Hypothyroidism • 1 in 141 vs. 1 in 4000 • Autoimmune thyroiditis (Hashimoto’s) • Thyroid function testing *DM, decreased fertility

  21. Cardiac Issues • Congenital heart defects (60%) • Atrioventricular canal defect (45%) • VSD (35%) • Isolated ASD (8%) • TOF (4%) • Other lesions (1%)

  22. GI Issues • Celiac Disease • 4.6-7.1% • Screening at 2-3yo • Neonatal Jaundice • Hirschprung’s Disease • Duodenal atresia, imperforate anus, TE fistula

  23. Growth

  24. GU Issues • Hypospadias • Cryptorchidism • micropenis

  25. Extremity/Limb Issues • Acquired hip dislocations (6%) • Clinodactyly • Arthritis (1-2%)

  26. Hematologic Issues • Polycythemia in newborn (64%) • Transient myeloproliferative disorder (10%) • ALL/AML

  27. Skin Issues • Xerosis • Alopecia areata (10%) • Vitiligo • Folliculitis, abscess formation

  28. Neurologic Issues • Seizures (8%) • Bimodal onset: before 12 mos of age (40%) • Infantile spasms, GTC • Partial simple or complex seizures in adult • Moya Moya Syndrome • progressive narrowing and occlusion of the intracranial internal carotid arteries  Collateral circulation

  29. Behavior issues • Disruptive behavior, aggressive behavior (7%) • ADHD (6%) • Conduct/ODD(5%) • Autism (7%)

  30. Developmental Progression • Milestones are achieved late, slower pace • Sitting at 11mos • Creeping at 17mos • Walking at 26mos • First words at 18mos

  31. Development in DS • No 2 patients are alike • Variabilities 2 to genetic, co-morbidities, child rearing, social and education opportunities • DS patients are individuals • Denver tool developed for DS patients (Chen & Wooley 1978) • Developmental milestones chart for DS (http://www.down-syndrome.org/information/development/early/?page=7#milestones)

  32. The spectrum of abilities in individuals with Down syndrome

  33. Development in DS • Social Skills • Strength, less delayed, socially sensitive, responds to emotional cues, facial expressions • Motor • Delayed but achieved, requires help/supervision

  34. Development in DS • Speech & Language Skills • Delayed than nonverbal understanding • Learning to talk is most serious delay • Visual-Spatial • Visual learners

  35. Early Intervention • Better short and long term intellectual and social functioning • Most important focus of therapy should be development of expressive language • Signing, writing, printed reading materials Resources Support groups

  36. References • http://www.down-syndrome.org/information/development/early • www.ds-health.com • Capute G, et al. Down Syndrome, Neurpdevelopmental disabilities in infancy and childhood, 3rd ed., p285-302, 2008

  37. Thank you

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