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DOWN SYNDROME

DOWN SYNDROME. Emily Pollakowski, MD. Background. In 1866, Down described the clinical characteristics we know now as Down Syndrome In 1959, Lejeune and Jacobs independently discovered trisomy 21 to be the cause Most common and well known chromosomal abnormality

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DOWN SYNDROME

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  1. DOWN SYNDROME Emily Pollakowski, MD

  2. Background • In 1866, Down described the clinical characteristics we know now as Down Syndrome • In 1959, Lejeune and Jacobs independently discovered trisomy 21 to be the cause • Most common and well known chromosomal abnormality • Most common cause of intellectual disability

  3. Description • Down Syndrome is characterized by mental retardation, dysmorphic facial features, and distinctive phenotypic traits • Classically, hypotonia, flat facies, upslanting pqlpepral fissures, and small ears • Children with Down Syndrome have such a typical look that they look more like each other than their families

  4. Associated Abnormalities: Cardiac • Congential heart disease (40-50%, most not symptomatic at birth) • AV canal (60%) • VSD • ASD • PDA • Tetralogy of Fallot • Aberrant subclavian artery

  5. Associated Abnormalities • Hearing loss (66-75%) • Strabismus (33-45%) • Nystagmus (15-35%) • Refractive errors (50%) • Nasolacrimal duct stenosis • Delayed tooth eruption

  6. Associated Abnormalities: GI • Tracheoesophageal fistula • GI atresia (12%) • Celiac disease • Meckel diverticulum • Hirschsprung disease (1%) • Imperforate anus

  7. Associated Abnormalities • Renal malformations • Hypospadias • Cryptorchidism (5-50%) • Thyroid disease (15%): congenital hypothyroidism • Neonatal polycythemia • Leukemia (1%, 10-30x greater risk than general population) • Retinoblastoma and germ cell tumors

  8. Associated Abnormalities • Obesity • Alopecia areata (10-15%) • Seizures (5-10%) • Alzheimer disease (nearly all over 40 years) • Mild to moderate mental retardation (IQ range 25-70)

  9. Complications • Otitis media with effusion (50-70%) • Sinusitis • Tonsillar hypertrophy, leading to OSA (33-75%) • Obstructive bowel disease • Constipation

  10. Complications • Subluxation of hips • Atlantoaxial instability (10-20%, secondary to ligamentous laxity)

  11. Epidemiology • Male > female (1.3:1) • 75% of concepti with trisomy 21die in embryonic or fetal life • 85% survive past one year of age • Over 50% are expected to live longer than 50 years • Congenital heart disease is most important factor in determining survival

  12. Frequency • In the United States, frequency is about 1 in 800 births • Each year, approximately 6000 children born with Down Syndrome

  13. Etiology • Full Trisomy 21 (94%) • Most common error is maternal nondisjunction (failure to segregate) at the first meiotic division • Mosaicism ( 2.4%): 2 cell lines present, less severe • Translocation ( 3.3%): 50% de novo, 50% balanced translocation from one parent

  14. Etiology • Advanced maternal age is risk factor for maternal meiotic nondusjunction • At 35 years, risk is 1 in 385 • At 40 years, risk is 1 in 106 • At 45 years, risk is 1 in 30

  15. Diagnosis • Clinical diagnosis with classic constellation of dysmorphic features • History and physical! • Confirm with karyotype

  16. Karyotype

  17. History • Previous history of infant with Down syndrome in the family • Parental concern about hearing, vision • Feeding history: adaquate calories, vomiting • Stooling pattern

  18. History • Development: delay in cognitive abilities, motor or language development, social competence • Cardiac history:fainting episodes, palpitations • Symptoms of sleep apnea: snoring, daytime somnolence, behavioral changes, and school problems

  19. History • Symptoms of atlantoaxial instability: • easy fatigability • neck pain, limited neck mobility or head tilt, torticollis • difficulty walking, change in gait pattern • loss of motor skills, incoordination • sensory deficits • spasticity, hyperreflexia

  20. Physical • General -Short stature -Hypotonia (80-100%), with open mouth and protruding tongue -Midface hypoplasia

  21. Physical • Head -Brachycephaly with flattened occiput -Microcephaly • Eyes -Upslanting palpepral fissures (98%) -Inner epicanthal folds -Brushfield spots (speckled iris)

  22. Physical • Ears -Small, prominent, low set, overfolding of helix, small canals • Nose -Small (85%), flat nasal bridge

  23. Physical • Tongue -Relative but not true macroglossia • Mouth -High arched palate • Teeth -Missing (50%) -Small, hypoplastic

  24. Physical • Heart -Assess for murmur, arrthymia • Abdomen -Look for distension in neonate (rule out obstruction) -Diastasis recti • GU -In males, small penis and cryptorchidism

  25. Physical • Extremities -Broad hands, with short metacarpals -Single transverse palmar crease (50%) -5th finger with hypoplasia of midphalanx and clinodactyly (60%) -Wide gap between 1st and 2nd toes -Hyperflexibility of joints • Skin -Fine, soft, sparse hair

  26. Next steps • Genetic counseling recommended • History of Down Syndrome increased risk of recurrence (1%) • Affected individuals rarely reproduce • Only 15-30% females are fertile • Males are infertile

  27. Monitoring • Routine vaccinations • Medications • Growth and development: -Specific growth charts available -Average age of meeting developmental milestones differs from general population

  28. Monitoring • Cardiac -Early evaluation and follow-up for congenital heart disease -Endocarditis prophylaxis for certain lesions • Endocrine -Thyroid function tests as newborn to rule out hypothryoidism, with follow-up

  29. Monitoring • Ophthalmologic -Early evaluation for cataracts and glaucoma • Ear, nose, throat -Periodic audiologic exams • Orthopedic -Screen for atlantoaxial instability with radiography

  30. Monitoring • Psychiatric/Social: -Screen for depression or anxiety -Manage behavioral problems -Social support -Family support -Long term living arrangements

  31. Prognosis • Overall outlook dramatically improved • However, overall life expectancy reduced • Importance of empowering and supporting families as best we can

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