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  1. Good Morning! Morning Report: Tuesday, March 13th

  2. Health Supervision of Children with Down Syndrome

  3. Introduction • Due to the presence of extra genetic material from chromosome 21, children with Down Syndrome have: • Multiple malformations • Medical conditions • Cognitive impairment

  4. *Physical Findings Hypotonia

  5. *Physical Findings Small ears, excessive skin at the nape of the neck Single transverse palmar crease Upward-slanting palpebral fissures, epicanthal folds, flat nasal bridge Deep plantar groove Brushfield spots Clinodactyly/ short 5th digit

  6. *Medical Conditions

  7. Cognitive Impairment • Degree is variable • Mild (IQ 50-70) • Moderate (IQ 35-50) • Severe (IQ 20-35) • Only occasional

  8. Genetics • In 95%, the condition is sporadic • In 3-4%, the condition results from an unbalanced translocation • 75% of these translocations are de novo • 25% result from familial translocations • 1-2% are mosaic (mix of normal cells and cells with Trisomy 21)

  9. The Prenatal Visit

  10. Testing • First Trimester (82-87%) • Maternal age • Nuchal translucency US • Β-hCG • PAPP-A • Second Trimester (80%) • Β-hCG • Unconjugatedestriol • AFP • Inhibin levels

  11. Topics to Discuss • Prenatal labs that lead to diagnosis and any fetal imaging studies that have been or will be performed • Mechanism of occurrence • Phenotypic manifestations and prognosis • Wide variability • Available treatments and interventions • Offer genetic counseling • If pregnancy is continued: plan for delivery/ neonatal care, support organizations, genetics referral

  12. Birth to 1 Month: Newborns

  13. History and PE • History • Family Hx • Previous children with Trisomy 21 • Developmental differences • Pregnancies that ended in miscarriage • Prenatal information • Prenatal chromosomes? • PE • Most sensitive test in the first 24h of life to diagnose trisomy 21

  14. Evaluation • Confirm the diagnosis • FISH • Chromosome analysis • ALL newborns should have: • Echo • Confirmed red reflexes bilaterally • Hearing screen (OAE or BAER) • Car seat test • CBC • TSH

  15. Evaluation • Also look for symptoms and signs of the following and evaluate on a case-by-case basis: • Feeding problems • Duodenal atresia or anorectalatresia/ stenosis • Constipation • GER • Stridor, wheezing or noisy breathing • Renal or urinary tract anomolies

  16. Anticipatory Guidance • Increased susceptibility to respiratory tract infxn • Synagis? • C-spine positioning precautions • Efficacy of early intervention (referral as appropriate) • Support services • Both individual and family • Recurrence risk • Treatments that are considered complementary and alternative

  17. 1 Month to 1 Year: Infants

  18. Physical Exam • Growth parameters • Use regular growth curves • Serous OM • Signs of CHF in patients with cardiac defects • Myelopathic signs

  19. Evaluations/ Referrals • Hearing screen at 6 mo • Referral to ENT with any abnormal results • Pediatric ophthalmology referral within the first 6 mos • Strabismus, cataracts, nystagmus • Repeat TSH @ 6 and 12 mos then annually • HgB @ 12 mos then annually • Ferritin/ CRP if at increased risk of low iron

  20. Anticipatory Guidance • C-spine positioning precautions • Review connection to early intervention services • Review support services • Assess family emotional status • Review family’s understanding of recurrence risk • Discuss and answer questions about complementary or alternative treatments

  21. 1 to 5 Years: Young Children

  22. Evaluation • Growth parameters, developmental/ behavioral status • Hearing screen • Q6 mos until normal hearing levels established then annually thereafter • Annual ophthalmology evaluation • 50% risk of refractive errors amblyopia b/t 3-5 yo • Annual TSH, HgB (ferritin/CRP)

  23. Evaluation • Screen for/ discuss symptoms related to celiac disease, OSA, myelopathy • Sleep study by age 4 • Maintain follow-up with cardiologist • 23-valent pneumococcal vaccine at 2 years old or older

  24. *Spotlight on Atlantoaxial Instability • Asymptomatic children • No routine radiologic evaluation • Symptomatic children • Plain c-spine films in the neutral position • Flexion and extension films (if films in in the neutral position are normal) • Prompt referral! • *Participation in some sports (football/ soccer/ gymnastics) places children at higher risk of spinal injury

  25. Anticipatory Guidance • Review early intervention • At 30 mo visit, address transition to preschool • Discuss behavioral and social progress • Irregular dental eruption patterns are common • Encourage and model use of accurate terms for genitalia and private body parts • Risk of sexual exploitation

  26. Anticipatory Guidance • Encourage families to establish optimal dietary and physical exercise patterns that will prevent obesity

  27. 5-13 Years: Older Children

  28. Evaluation • Growth parameters (BMI), developmental/ behavioral status • Annual • Hearing screen • TSH • HgB (ferritin/CRP) • Ophthalmology evaluation every 2 years • Screen for/ discuss symptoms related to celiac disease, OSA, myelopathy

  29. Anticipatory Guidance • Encourage the development of age-appropriate social and self-help skills along with a development of a sense of responsibility • Continue to monitor for behavior problems • Discuss the progression of physical and psychosocial changes through puberty • Fertility and contraception

  30. 13-21 Years: Adolescents and Early Adults

  31. Evaluation • Growth parameters (BMI), developmental/ behavioral status • Annual • Hearing screen • TSH • HgB (ferritin/CRP) • Ophthalmology evaluation every 3 years • Screen for/ discuss symptoms related to celiac disease, OSA, myelopathy • Examine for acquired aortic and mitral valvular disease

  32. Anticipatory Guidance • Discuss issues related to transition into adulthood • Guardianship • Long-term financial planning • Appropriateness of school placement • Vocational training? • Grouphomes and independent living opportunities • Risk of premature aging and Alzheimer disease

  33. Anticipatory Guidance • Recurrence risk of DS if a female patient were to get pregnant • Assess, monitor and encourage independence with hygiene and self-care • Recommendations for routine gynecologic care

  34. Thanks for your attention! Noon conference: Tax Seminar with Physicians Resource Group (LUNCH PROVIDED!!)