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Guidelines > AAP Health Supervision for Children with Down Syndrome > Flashcards

AAP Health Supervision for Children with Down Syndrome Flashcards

1
Q

What are medical problems common in Down Syndrome?

A
  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%
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2
Q

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

A

95%

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3
Q

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

A

3-4%

1/3 sporadic 2/3 familial

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4
Q

What percentage of children with Down syndrome have mosaicism?

A

1-2%

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5
Q

What is the first semester screening for Down syndrome?

A
  1. Maternal age
  2. Nuchal translucency on US
  3. Measurement of b-hCG
  4. Measurement of pregnancy-associated plasma protein A (PAPP-A)
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6
Q

What is the second trimester screening for Down syndrome?

A
  1. Maternal age
  2. Measurement of serum hCG
  3. Measurement of unconjugated estriol
  4. Measurement of AFP
  5. Measurement of inhibin levels
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7
Q

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

A

82-87%

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8
Q

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

A

80%

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9
Q

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

A

95%

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10
Q

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

A
  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
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11
Q

What are the recommendations for prenatal health visits?

A
  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
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12
Q

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

A
  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
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13
Q

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

A
  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
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14
Q

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

A
  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
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15
Q

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

A
  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
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16
Q

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

A
  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

Guidelines (13 decks)

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