Ear Center: Down Syndrome

Guidelines for Preventive Medical-Surgical Care for Individuals with Down Syndrome

NEONATAL AND EARLY INFANCY (0-12 MONTHS)

  1. Document chromosomal karyotype. If peripheral blood karyotype is normal and DS is still suspected, perform karyotype on fibroblasts from skin biopsy.
  2. Communicate diagnosis to parents. Offer genetic counseling. Review parental concerns and family support.
  3. Refer to parent support group(s)/networks in local area.
  4. Screen infant for congenital heart disease. Obtain ECG and echocardiogram even in the absence of a murmur. Provide antibiotic prophylaxis according to the American Heart Association guidelines in susceptible children with cardiac disease to prevent subacute bacterial endocarditis. Observe for progressive pulmonary hypertension if a VSD or atrioventricular septal defect is present, especially in children with little or no symptoms of congestive heart failure.
  5. Obtain thyroid function tests (T4, T3, TSH levels). A widely open posterior fontanel may indicate hypothyroidism. Hyperthyroidism can also occur.
  6. Assess patency of gastrointestinal tract (r/o esophageal and duodenal web or atresia, bowel obstructions, imperforate anus, etc.) and insure adequate caloric intake. Monitor constipation and use dietary management and stool softeners. If constipation continues, consider Hirschsprung's disease workup. Observe for symptoms of celiac disease. If suspicious, obtain IgA-Antigliadin and IgA-Antiendomysium antibody titres.
  7. Examine eyes for red reflex and screen for congenital cataracts. Refer to pediatric ophthalmologist for nystagmus, strabismus or poor vision.
  8. Otologic examination within 1 month.
  9. Screen hearing in sound field, measure acoustic reflexes, perform auditory brain stem response testing and transient or DP-OAE's (distortion product otoacoustic emissions) if indicated.
  10. Aggressively treat otitis media with antibiotics. Perform myringotomies and place transtympanic tubes after 3 months or when technically able.
  11. Have speech pathologist evaluate child at 6 months. Introduce the parents to the concept of developmental apraxia of speech (DAS).
  12. Enroll in early intervention programs (developmental, auditory and speech) either home or center based.
  13. Plan physical and occupational therapy. Obtain developmental evaluation.
  14. Parents should examine wills, consider establishing trusts, and obtain estate planning advice. Apply for Supplemental Security Income (SSI) depending on family income.
  15. Perform routine well-baby care, accident prevention, general home safety, avoidance of environmental hazards.
  16. Observe for development of obstructive sleep apnea.
  17. Discourage use of unconventional treatments which have not been scientifically shown to enhance intellectual functioning in DS (pituitary extract, glutamic acid, thyroid hormone in euthyroid individuals, 5-hydroxytryptophan, dimethyl sulfoxide, sicca cell therapy, "U-series" of vitamins-minerals-assorted compounds)./li>
  18. Wait for further studies on zinc sulphate (growth) and selenium therapy (improve immune function IgG2 and IgG4).
  19. Maintain and provide up-to-date references and resource information for parents.
  20. Check hips for congenital dislocations
  21. Piracetam is unproven and is not recommended. It is similar to gamma amino butyric acid. In studies, it failed to diminish dementia in adults and only had a transient effect in boys with dyslexia. There are no studies of its use in children with Down Syndrome. There are no magic cures.

PRESCHOOL (1-5 YEARS)

  1. Complete ophthalmologic exam at 1 year. Regular annual exams. Observe for signs of visual difficulty, strabismus, and amblyopia. Monitor for the development of cataracts.
  2. Yearly otologic exam and audiogram. If tubes present, check every 3 to 6 months.
  3. Annual thyroid function testing (T4,T3, TSH levels).
  4. Follow routine vaccination schedules including Hemophilus Influenza B (HIB), hepatitis B vaccines, and Prevnar (pneumococcal) vaccine for children at risk in areas with high rates of multi-drug resistant Streptococcus pneumoniae infection. Continue routine pediatric well-child examinations, including a brief vulvar examination for girls.
  5. Routine orthopedic examination at 1 year. Check for foot problems and dislocated hips. Perform cervical spine films (lateral views in neutral, flexion, and extension) at age 2 - 3 years to assess for atlantoaxial instability or subluxation. Follow-up with CAT and MRI scanning for any detectable craniovertebral or vertebrovertebral abnormalities. If atlantoaxial subluxation with spinal cord compression is present, place the child in hard cervical collar immediately, limit activity, and refer to a pediatric neurosurgeon, familiar with treating children with Down Syndrome, for evaluation for occipitocervical stabilization.
  6. Initial dental examination at 2 years with attention to fluoride supplementation, periodontal therapy, and use of sealants.
  7. Complete developmental evaluation (physical therapy, occupational therapy, feeding evaluation). Continue early intervention program. Begin to formulate individual educational program (IEP) at age 3 to 4.
  8. Monitor development for signs of attention deficit disorders, infantile spasms, leukemia (1:95 probability), etc.
  9. Monitor speech and language progress from first words including emphasis on eating and tongue behavior. Introduce sign language as early as possible.
  10. Monitor sleep patterns and obstructive sleep apnea, nutrition and growth, toileting skills, self care, and communication skills.

SCHOOL AGE

  1. Annual exams:
    1. Ophthalmologic
    2. Otologic
    3. Audiometric
    4. Dental (orthodontic, periodontal) and sealants
    5. Thyroid Screen
    6. Psychoeducational
  2. Cervical spine films prior to general anesthesia or Special Olympics at age 8.
  3. Nutritional and dietary counseling and exercise program.
  4. Monitor school adjustment, aggression, self injurious behavior, property destruction, transitional observations.
  5. Update individual educational plan (IEP) as appropriate. Work on developing reading skills by word recognition.[i]
  6. Complete childhood vaccination schedule. Consider pneumovax vaccine.
  7. Be skeptical of cosmetic facial plastic surgery procedures to "correct" appearance, tongue behavior, speech articulation, etc.
    Ask, "For whom is the facial surgery being performed--the child, parent, or surgeon?".
    Ask, "How will the surgical trauma affect your child physically and mentally (self-Esteem™ and self-image)?" Finally, ask, "Would you have the procedure performed if your child did not have Down Syndrome?"
  8. Twice daily teeth brushing. Monitor for well balanced, high fiber diet. Regular exercise. Reinforce good self-care skills (grooming, dressing, money handling, etc.)

YOUNG ADULT

  1. Annual thyroid screen.
  2. Biannual dental examinations.
  3. Annual ophthalmologic examinations.
  4. Annual otologic examinations.
  5. Adjust hearing aids or FM auditory trainers as indicated.
  6. Daily exercise program. Monitor for obesity.
  7. Continue dietary counseling.
  8. Counseling for pre-vocational adjustment, sexuality and birth control as indicated, separation from parents, plans for independent living.
  9. At age 18, parents must file for legal guardianship.
  10. Women age 17-20 should have routine gynecologic examination with a Pap smear and a breast examination.
  11. Repeat cervical spine films at ages 12 and 18 if any symptoms arise.
  12. Repeat psychoeducational evaluations yearly as part of the IEP.
  13. Monitor independent functioning. Counsel about abuse prevention (drugs, smoking, and alcohol).
  14. Order an echocardiogram for individuals without congenital heart disease once in early adulthood 18-20 yrs.) to rule out "silent" valvular disease.
  15. Register for voting and selective service at age 18.

ADULTHOOD

  1. Aging health maintenance for diabetes, hypertension, heart disease, major vascular disease, and cancer screening, etc.
  2. Annual thyroid screen.
  3. Hearing evaluation at age 20 to check for the onset of Presbycusis (hearing loss due to aging). Obtain hearing aid amplification if indicated.
  4. Daily exercise program. Monitor for obesity.
  5. Screen for symptoms of Alzheimer disease (personality change, loss of daily living skills, changes in gait, seizures) and do not confuse with either autoimmune hypothyroidism or atlantoaxial subluxation with spinal cord compression.
  6. Monitor for symptoms of depression--look for changes in personality and other symptoms overlapping with Alzheimer disease.
  7. Monitor for loss of independence in living skills.
  8. Routine yearly gynecologic examinations with Pap smears every 1-3 years, especially if sexually active. For women who are not sexually active, single finger bimanual examination with finger directed cytological exam. Screening pelvic ultrasound every 2-3 years. Yearly breast examination. Mammogram every other year beginning at age 40 and yearly beginning at age 50. Schedule colonoscopies as recommended by your gastroenterologist.
  9. Routine ophthalmology examination every two years to check for keratoconus and cataracts.
  10. Repeat cervical spine films at age 30 if symptoms arise.
  11. Continue twice yearly dental examinations.
  12. Discuss plans for vocational opportunities at age 21 or when formal schooling ends.
  13. Bereavement counseling for individuals who have experienced the loss of an important loved one orimportant person in their life. This includes both the death of an important person or other circumstances such as a sibling moving away, getting married, or leaving for college.

[i] Oelwein, P: Teaching Reading to Children with Down Syndrome: A Guide for Parents and Teachers. Rockville, MD, Woodbine House, 1994.

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Last updated: 03-04-17