1 / 36

Good Morning! 

Good Morning! . Morning Report: Tuesday, March 13th. Health Supervision of Children with Down Syndrome . Introduction. Due to the presence of extra genetic material from chromosome 21, children with Down Syndrome have: Multiple malformations Medical conditions Cognitive impairment.

livi
Download Presentation

Good Morning! 

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  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!!)

More Related