Down Syndrome: Pediatric Management

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Down Syndrome Pediatric Management
Christopher R. Leon-Guerrero MS III Accessible
via www.med.unc.edu/chrislg
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Epidemiology of Down Syndrome

• -1/800 live births
• -risk of recurrence depends on inheritance
  pattern and maternal age
• -risk increases exponentially with respect to
  maternal age

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Genetics of Down Syndrome

• -95 of cases are caused by non-disjunction
• -maternal meiotic non-disjunction
• -recurrence risk is related to maternal age
• 3 to 4 of cases are caused by translocations
• -40 of translocations are inherited by a
  balanced carrier parent
• -1-2 of cases are mosaic with a normal cell line
• -mos 46,XX/47,XX,21

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Clinical Manifestations of Down Syndrome

• (1) Abnormal Facies
• -epicanthal folds, upslanting palpebral
  fissures, flat nasal bridge, small bradycephalic
  head, small mouth, small, low set ears, open
  mouth with protruding tongue

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Clinical Manifestations of Down Syndrome
(continued)

• (2) Hypotonia
• (3) Brushfield Spots
• (4) Short Neck with Skin Folds

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Clinical Manifestations of Down Syndrome
(continued)

• (5) Abnormal Hands
• -short and broad hands, Simian crease, and 5th
  finger clinodactyly
• (6) Abnormal Feet
• -wide gap between 1st and 2nd toes

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Medical Complications of Down Syndrome

-Cardiac -Endocardial cushion defects -HEENT
-Hearing loss, recurrent otitis media,
strabismus, cataracts, nystagmus -Neurologic -Men
tal retardation, hypotonia, Alzheimer Disease
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Medical Complications of Down Syndrome (continued)

Gastrointestinal -Hirschsprung Disease,
duodenal atresia, pyloric stenosis,
tracheoesophageal fistula Musculoskeletal -Hip
dysplasia, atlantoaxial instability of
subluxation Respiratory -Obstructive sleep
apnea
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Medical Complications of Down Syndrome (continued)

Endocrine -Congenital Hypothyroidism Hematology
-Acute Lymphocytic Leukemia Reproductive -Infer
tility ?, anovulation ?
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Medical Complications of Down Syndrome (continued)

And the list of complications continues With
all of these complications, how can the General
Pediatrician manage and address all of a Down
Syndrome patients concerns?
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American Academy of Pediatrics Recommendations

-The AAP has come up with a Health Supervision
rubric for managing Down Syndrome patient -The
General Pediatrician should act as an advocate
and as a medical liaison for patients with Down
Syndrome
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AAP Guideline Overview

• American Academy of Pediatrics Health
  Supervision for Children with Down Syndrome.
  Committee on Genetics. Pediatrics. Vol. 107 No. 2
  Feb 2001, pp. 442-449.

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Newborn Visit

• -Discuss and Review
• -The diagnosis, karyotype, and phenotype with
  the family
• -Hypotonia
• -Facial appearance
• Evaluate
• (1) Feeding and GI problems
• (2) Eye problems
• (3) Hearing problems e.g. brainstem auditory
  evoked response test or otoacoustic emission
  test
• (4) Cardiac abnormalities- pediatric cardiology
  consult
• (5) Hypothryoidism
• (6) Leukemia
• (6) Respiratory Tract Infections

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Newborn Visit (continued)

• Anticipatory Guidance
• (1) Offer information regarding support and
  counseling
• (2) Discuss the benefits of early intervention
• (3) Discuss future health concerns
• (4) Discuss unproven therapies
• (5) Discuss increased risk for respiratory tract
  infections
• (6) Discuss risk of recurrence for future
  pregnancies

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1 to12 Month Old Visits

• Discuss and Review
• -Growth and development
• Evaluate
• (1) Risk of otitis media and hearing loss
  otolaryngology consult
• (2) Behavioral audiogram should be obtained
  before 1 year
• (3) Detailed eye examination before 6 months
• (4) Repeat Thyroid Screen at 6 and 12 months
• (5) Vaccinations, particularly the Pneumococcal
  Vaccine

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1 to 12 Month Old Visits (continued)

• Anticipatory Guidance
• (1) Offer information regarding support and
  counseling
• (2) Review psychological support and
  intrafamilial relationships at 6 and 12 month
  visits
• (3) Discuss long-term planning, financial
  planning, and guardianship
• (4) Discuss risk of recurrence for future
  pregnancies

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1 to 5 Year Old Visits

• Evaluation
• (1) Growth and Development
• (2) Risk of otitis media and hearing loss
  otolaryngology consult
• (3) Audiogram every 6 months up until age 3 and
  then annually there after
• (4) Check vision annually, 50 risk for
  refractive errors
• (5) Repeat thyroid screen every year
• (6) Obtain radiographs to check for atlantoaxial
  instability between age 3 to 5 years old
• (7) Assess for Obstructive Sleep Apnea

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1 to 5 Year Old Visits (continued)

• Anticipatory Guidance
• (1) Discuss education plan
• (2) Discuss physical, occupational and speech
  therapy options
• (3) Discuss diet and exercise
• (4) Discuss behavior and socialization
• (5) Discuss risk of recurrence for future
  pregnancies

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6-13 Year Old Visits

• Evaluation
• (1) Growth and Development
• (2) Audiologic evaluation every year
• (3) Ophthalmologic evaluation every year
• (4) Thyroid screen every year
• (5) Assess for Obstructive Sleep Apnea
• (6) Assess for skin problems, particularly dry
  skin

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6-13 Year Old Visits (continued)

• Anticipatory Guidance
• (1) Discuss education and development
• (2) Discuss long-term planning, financial
  planning, and guardianship
• (3) Discuss physical and sexual development

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13-21 Year Old Visits

• Evaluation
• (1) Order CBC every year
• (2) Audiologic evaluation every year
• (3) Ophthalmologic evaluation every year
• (4) Thyroid screen every year
• (5) Assess for skin problems

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13-21 Year Old Visits (continued)

• Anticipatory Guidance
• (1) Discuss transition into adulthood
• (2) Discuss education and development
• (3) Discuss sexuality and fertility
• (4) Discuss future living plans e.g. group
  homes, independent living
• (5) Facilitate transfer to adult care

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Counseling Tips

• -Congratulate before discussing the status of the
  baby
• -Make the diagnosis as soon as possible
• -Make announcement with both parents present if
  possible
• -Love your child like any other child.
• -Provide family with education materials
• Mothers of Children With Down Syndrome Reflect
  on Their Postnatal Support. Skotko B. Pediatrics.
  Vol. 115 No. 1 Jan 2005 pp. 64-77.

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Resources and Support

• -National Down Syndrome Society
• www.ndss.org
• -National Association of Down Syndrome
• www.nads.org
• -Down Syndrome Association of Charlotte
• www.dsacnc.org

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References

• American Academy of Pediatrics Health
  Supervision for Children with Down Syndrome.
  Committee on Genetics. Pediatrics. Vol. 107 No. 2
  Feb 2001, pp. 442-449.
• Mothers of Children With Down Syndrome Reflect
  on Their Postnatal Support. Skotko B. Pediatrics.
  Vol. 115 No. 1 Jan 2005 pp. 64-77.
• Down Syndrome Prenatal Risk Assessment and
  Diagnosis. Newberger DS. American Family
  Physician. Vol. 62 No. 4 Aug 2000 pp. 825-832.
• Down syndrome births in the United States from
  1989 to 2001. Egan JF, Benn PA, Zelop CM, Bolnick
  A, Gianferrari E, Borgida AF. Am J Obstet
  Gynecol. 2004 Sep191(3)1044-8.
• Up-to-Date