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

NEONATAL AND EARLY INFANCY (0 – 12 MONTHS)

1. Document chromosomal karyotype.

2. Communicate diagnosis to parents. Offer genetic counseling.

3. Refer to parent support group(s) in local area.

4. Screen infant for congenital heart disease. Obtain ECG and echocardiogram if indicated. Provide antibiotic prophylaxis according to the American Heart Association guidelines in susceptible children with cardiac disease to prevent sub acute bacterial endocarditis.

5. Obtain thyroid function tests (T4, T3, TSH levels).

6. Assess patency of gastrointestinal tract (r/o esophageal and duodenal 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.

7. Examine eyes for red reflex and screen for congenital cataracts.

8. Otologic examination within one month.

9. Screen hearing in sound field, measure acoustic reflexes, perform auditory brain stem response testing and OAE’s if indicated.

10. Aggressively treat otitis media with antibiotics. Perform myringotomies and place Tran tympanic tubes after three months or when technically able.

11. Have speech pathologist evaluate child at six 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. Plan physical and occupational therapy. Obtain developmental evaluation.

13. Parents should examine wills, consider establishing trusts, and obtain estate-planning advice. Apply for Supplemental Security Income (SSI) depending on family income.

14. Perform routine well-baby care, accident prevention, general home safety, avoidance of environmental hazards.

15. Observe for development of obstructive sleep apnea.

16. 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- hydroxytrtophan, dimethyl sulfoxide, sicca cell therapy, “U-series” of vitamins-minerals-assorted compounds).

17. Wait for further studies on zinc sulphate (growth) and selenium therapy (improve immune function IgG2 and IgG4).

18. Maintain and provide up-to-date references and resource information for parents.

19. Check hips for congenital dislocations.

20. 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. medical guidelines

PRESCHOOL (1 – 5 YEARS)

1. Complete ophthalmologic exam at one 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 three to six months.

3. Annual thyroid function testing (T4, T3, TSH levels).

4. Follow routine vaccination schedules including Hemophilus Influenza B (HIB) and hepatitis B vaccines. Consider pneumococcal vaccine (Pneumovax) for children at risk in areas with high rate of multi-drug resistant Streptococcus pneumonia infection. Continue routine pediatric well-child examinations.

5. Routine orthopedic examination at one year. Check for foot problems and dislocated hips. Perform cervical spine films (lateral views in neutral, flexion, and extension) at age two – three 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 and refer to a pediatric neurosurgeon, familiar with treating children with Down syndrome, for evaluation occipitocervical stabilization.

6. Initial dental examination at two 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 programs. Begin to formulate individual educational program (IEP) at age three to four.

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. Psycho educational

2. Cervical spine films prior to general anesthesia or Special Olympics at age eight.

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.

6. Complete childhood vaccination schedule. Consider pneumovax vaccine.

7. Be skeptical of cosmetic facial plastic 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 the child physically and mentally (self-esteem and self-image)?” Finally, ask, “Would you have the procedure performed if the 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.). medical guidelines

YOUNG ADULT

1. Annual thyroid exam.

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 should file for legal guardianship.

10. Women age 17 – 20 should have routine gynecologic examination with a Pap smear.

11. Repeat cervical spine films at ages 12 and 18 if any symptoms arise.

12. Repeat psycho educational evaluations yearly as part of the IEP.

13. Monitor independent functioning. Counsel about abuse prevention (drugs, smoking, and alcohol).

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. Obtain hearing aid amplification if indicated.

4. Daily exercise program.

5. Screen for symptoms of Alzheimer disease (personality change, loss of daily living skills, changes to 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 obesity.

8. Routine yearly gynecologic examinations with Pap smears every three years. Yearly breast examination. Mammogram at age 35.

9. Routine ophthalmology examinations 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.