AAP Health Supervision for Children with Down Syndrome

Question 1

What are medical problems common in Down Syndrome?

Answer 1

1. Hearing problems 75%
2. Vision problems 60%
3. Cataracts 15%
4. Refractive errors 50%
5. OSA 50-75%
6. Otitis media 50-70%
7. Congenital heart disease 40-50%
8. Hypodontia and delayed dental eruption 23%
9. Gastrointestinal atresias 12%
10. Thyroid disease 4-18%
11. Seizures 1-13% incld infantile spasms
12. Anemia 3%
13. Iron deficiency `10%
14. Transient myeloproliferative disorder 10%
15. Leukemia 1%
16. Celiac disease 5%
17. Atlantoaxial instability 1-2%
18. Autism 1%
19. Hirschsprung disease <1%

Question 2

What percentage of children with Down syndrome have sporadic trisomy 21 with 47 chromosomes?

Answer 2

95%

Question 3

What percentage of children with Down syndrome have an unbalanced translocation between chromosome 21 and another chromosome (often 14)?

Answer 3

3-4%

1/3 sporadic 2/3 familial

Question 4

What percentage of children with Down syndrome have mosaicism?

Answer 4

1-2%

Question 5

What is the first semester screening for Down syndrome?

Answer 5

1. Maternal age
2. Nuchal translucency on US
3. Measurement of b-hCG
4. Measurement of pregnancy-associated plasma protein A (PAPP-A)

Question 6

What is the second trimester screening for Down syndrome?

Answer 6

1. Maternal age
2. Measurement of serum hCG
3. Measurement of unconjugated estriol
4. Measurement of AFP
5. Measurement of inhibin levels

Question 7

What is the detection rate of Down syndrome by first trimester screening?

Answer 7

82-87%

Question 8

What is the detection rate of Down syndrome by second trimester screening?

Answer 8

80%

Question 9

What is the detection rate of Down syndrome by integrated (first and second trimester screening)

Answer 9

95%

Question 10

What topics should be discussed with the family during prenatal counselling re: Down syndrome?

Answer 10

1. Prenatal laboratory studies that lead to diagnosis and any fetal imaging studies
2. Mechanism of occurrence and recurrence rate
3. Prognosis and phenotypic manifestations
4. Additional studies that refine prognosis (i.e. fetal echo, US of GI tract) and referral to appropriate subspecialists if abnormal
5. Available treatments and interventions incld. parent support programs
6. Options: termination, raising child in home, foster care, adoption
7. Availability of genetic counselling
   If pregnancy continued:
8. Plan for delivery and neonatal care
9. Offer contacts for parental support
10. Offer referral to clinical geneticist

Question 11

What are the recommendations for prenatal health visits?

Answer 11

1. Counseling regarding prenatal screening test and imaging results
2. Plan for delivery
3. Referral to geneticist
4. Parent-to-parent contact, support group, current books and pamphlets

Question 12

What are the recommendations for health supervision visits from birth to 1mo?

Answer 12

1. Parent-to-parent contact, support groups, current books and pamphlets
2. Physical exam for evidence for trisomy 21
3. Chromosomal analysis to confirm dx
4. Echocardiogram
5. Radiographic swallowing assessment if marked hypotonia, slow-feeding, choking with feeds, recurrent or persistent respiratory sx, FTT
6. Eye exam for cataracts
7. Newborn hearing screen and follow-up
8. Hx and PE assessment for duodenal or anorectal atresia
9. If constipation, evaluate for limited diet or fluids, hypotonia, hypothyroidism, GI malformation, Hirschprung
10. CBC to r/o transient myeloproliferative disorder, polycythemia
11. TSH
12. Discuss risk of respiratory infection
13. If cardiac surgery or hypotonic: evaluate apnea, bradycardia, or oxygen desaturation in car seat before discharge
14. Discuss complementary and alternative therapies
15. Discuss cervical spine positioning, esp. for anesthesia or surgical or radiologic procedures
16. Review signs and symptoms of myopathy
17. If myopathic signs or symptoms: obtain neutral position spine films and, if normal, obtain flexion and extension films & refer to pediatric neurosurgeon or orthopedic surgeon with expertise in evaluating and treating atlanto-axial instability
18. If congenital heart disease, monitor for signs & sx of CHF
19. Assess the emotional status of parents and intrafamilial relationships

Question 13

What are the recommendations for health supervision visits from 1mo to 1yo?

Answer 13

1. Parent-to-parent contact, support groups, current books and pamphlets
2. Chromosomal analysis to confirm dx if not done before
3. Discuss risk of recurrence of Down syndrome if not done before
4. Radiographic swallowing assessment if marked hypotonia, slow-feeding, choking with feeds, recurrent or persistent respiratory sx, FTT if not done before
5. Eye exam for cataracts
6. Reassure parents delayed and irregular dental eruption, hypodontia are common
7. If constipation, evaluate for limited diet or fluids, hypotonia, hypothyroidism, GI malformation, Hirschprung
8. TSH @ 6-12mo
9. Discuss complementary and alternative therapies
10. Discuss cervical spine positioning, esp. for anesthesia or surgical or radiologic procedures
11. Review signs and symptoms of myopathy
12. If myopathic signs or symptoms: obtain neutral position spine films and, if normal, obtain flexion and extension films & refer to pediatric neurosurgeon or orthopedic surgeon with expertise in evaluating and treating atlanto-axial instability
13. Audiology evaluation @6mo
14. Assess for OSA sx
15. Ophthalmology referral to assess for strabismus, cataracts, and nystagmus
16. If congenital heart disease, monitor for signs & sx of CHF
17. Assess the emotional status of parents and intrafamilial relationships

Question 14

What are the recommendations for health supervision visits from 1-5yo?

Answer 14

1. Parent-to-parent contact, support groups, current books and pamphlets if not done before
2. Chromosomal analysis to confirm dx if not done before
3. Discuss risk of recurrence of Down syndrome if not done before
4. If constipation, evaluate for limited diet or fluids, hypotonia, hypothyroidism, GI malformation, Hirschprung
5. Hb annually, CRP & ferritin or CHr if possible risk iron deficiency or Hb <11g
6. TSH annually
7. Discuss complementary and alternative therapies
8. Discuss cervical spine positioning, esp. for anesthesia or surgical or radiologic procedures
9. Review signs and symptoms of myopathy
10. If myopathic signs or symptoms: obtain neutral position spine films and, if normal, obtain flexion and extension films & refer to pediatric neurosurgeon or orthopedic surgeon with expertise in evaluating and treating atlanto-axial instability
11. Instruct to contact MD for change in gait, change in use of arms or hands, change in bowel or bladder function, neck pain, head tilt, torticollis, or new onset weakness biennially
12. Advise risk of some contact sports, trampolines
13. If normal hearing established, behavioral audiogram and tympanometry until bilateral ear specific testing possible. Refer child with abnormal hearing to ot q6m.
14. If normal ear-specific hearing established, behavioral audiogram annually
15. Assess for OSA sx
16. Sleep study by age 4yo
17. Refer to pediatric ophthalmologist or ophthalmologist with experience with Down syndrome annually
18. If congenital heart disease, monitor for signs & sx of CHF
19. Assess the emotional status of parents and intrafamilial relationships
20. Check for sx of celiac disease, if sx present, obtain TTG IgA & quantitative IgA
21. Early intervention: physical, occupational, and speech therapy
22. At 30m, discuss transition to preschool and development of IEP
23. Discuss behavioral and social progress
24. If chronic cardiac or pulmonary disease, 23-valent pneumococcal vaccine at age >2y
25. Reassure regarding delayed and irregular dental eruption
26. Establish optimal dietary and physical exercise patterns

Question 15

What are the recommendations for health supervision visits from 5-13yo?

Answer 15

1. Hb annually, CRP & ferritin or CHr if possible risk iron deficiency or Hb <11g
2. TSH annually
3. Discuss complementary and alternative therapies
4. Discuss cervical spine positioning, esp. for anesthesia or surgical or radiologic procedures
5. Review signs and symptoms of myopathy
6. If myopathic signs or symptoms: obtain neutral position spine films and, if normal, obtain flexion and extension films & refer to pediatric neurosurgeon or orthopedic surgeon with expertise in evaluating and treating atlanto-axial instability
7. Instruct to contact MD for change in gait, change in use of arms or hands, change in bowel or bladder function, neck pain, head tilt, torticollis, or new onset weakness biennially
8. Advise risk of some contact sports, trampolines
9. If normal ear-specific hearing established, behavioral audiogram annually
10. Assess for OSA sx
11. Refer to pediatric ophthalmologist or ophthalmologist with experience with Down syndrome q2y
12. If congenital heart disease, monitor for signs & sx of CHF
13. Assess the emotional status of parents and intrafamilial relationships
14. Check for sx of celiac disease, if sx present, obtain TTG IgA & quantitative IgA
15. Early intervention: physical, occupational, and speech therapy
16. Discuss behavioral and social progress
17. Discuss self-help skills ADHD, OCD, wandering off, transition to middle school
18. Discuss dermatologic issues with parents
19. Discuss physical and psychosocial changes though puberty, need for gynecologic care in the pubescent female

Question 16

What are the recommendations for health supervision visits from 13-21yo?

Answer 16

1. Hb annually
2. TSH annually
3. Discuss cervical spine positioning, esp. for anesthesia or surgical or radiologic procedures
4. Review signs and symptoms of myopathy
5. If myopathic signs or symptoms: obtain neutral position spine films and, if normal, obtain flexion and extension films & refer to pediatric neurosurgeon or orthopedic surgeon with expertise in evaluating and treating atlanto-axial instability
6. Instruct to contact MD for change in gait, change in use of arms or hands, change in bowel or bladder function, neck pain, head tilt, torticollis, or new onset weakness biennially
7. Advise risk of some contact sports, trampolines
8. If normal ear-specific hearing established, behavioral audiogram annually
9. Assess for OSA sx
10. Refer to pediatric ophthalmologist or ophthalmologist with experience with Down syndrome q3y
11. If congenital heart disease, monitor for signs & sx of CHF
12. Assess the emotional status of parents and intrafamilial relationships
13. Check for sx of celiac disease, if sx present, obtain TTG IgA & quantitative IgA
14. Early intervention: physical, occupational, and speech therapy
15. Discuss behavioral and social progress
16. Discuss physical and psychosocial changes though puberty, need for gynecologic care in the pubescent female
17. Facilitate transition: guardianship, financial planning, behavioral problems, school placement, vocational training, independence with hygiene and self care, group homes, work settings
18. Discuss sexual development and behaviors, contraception, STI, recurrence risk for offspring