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Down Syndrome: Pediatric Management

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Down Syndrome: Pediatric Management. Christopher R. Leon-Guerrero MS III ... The AAP has come up with a Health Supervision rubric for managing Down Syndrome patient ... – PowerPoint PPT presentation

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Title: Down Syndrome: Pediatric Management


1
Down Syndrome Pediatric Management
Christopher R. Leon-Guerrero MS III Accessible
via www.med.unc.edu/chrislg
2
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

3
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

4
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

5
Clinical Manifestations of Down Syndrome
(continued)
  • (2) Hypotonia
  • (3) Brushfield Spots
  • (4) Short Neck with Skin Folds

6
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

7
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
8
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
9
Medical Complications of Down Syndrome (continued)

Endocrine -Congenital Hypothyroidism Hematology
-Acute Lymphocytic Leukemia Reproductive -Infer
tility ?, anovulation ?
10
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?
11
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
12
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.

13
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

14
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

15
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

16
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

17
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

18
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

19
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

20
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

21
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

22
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

23
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.

24
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

25
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
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