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American Academy of Pediatrics

revised

  • 98(2):297
From the American Academy of PediatricsClinical Report

Health Supervision for Children With Fragile X Syndrome

Joseph H. Hersh, Robert A. Saul and Committee on Genetics
Pediatrics May 2011, 127 (5) 994-1006; DOI: https://doi.org/10.1542/peds.2010-3500
Joseph H. Hersh
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Robert A. Saul
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    FIGURE 1

    Testing algorithm for fragile X syndrome and FMR1-related disorders. a Adults to be considered for FMR1 molecular testing. (Adapted with permission from Saul RA, Tarleton JC. FMR1-related disorders. GeneReviews [online]. October 28, 2010. Available at: www.ncbi.nlm.nih.gov/books/NBK1384. Copyright, University of Washington, Seattle, 1997–2010.)

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    TABLE 1

    Risk of Expansion to a Full Mutation in Male Offspring Based on the CGG Repeat Number in the Mother1,34

    CGG Repeat NumberRisk for Expansion to a Full Mutation, %
    59–6937
    70–7965
    80–8970
    90–9995
    ≥100100
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    TABLE 2

    Fragile X Syndrome: Guidelines for Health Supervision

    Infancy to 1 yEarly Childhood, 1–5 yLate Childhood, 5–12 yAdolescence to Early Adulthood, ≥13 y
    Newborn1–6 mo6–12 mo
    Examination
        Ocular●a●a●a●a●●
        Ear, nose, throat—●b●b●b●●
        Skeleton●c———●●
        Cardiac————●d●d
        Measure testes———●●●
        Development●●●e●●●
        Neurologic——●f●●g●
    Behavior●h●h●h●h●i●i
    Anticipatory guidance
        Genetics●j●●●●k●k
        Psychosocial●l●l●l●l●l—
        Support groups●●●●●●
        Early intervention, physical and other therapies—●●●●●
        Behavior●●●●●m,n●m,n
        Education———●o●p●p
    • Health care providers should ensure that, in addition to the specific guidelines provided here, patients with fragile X syndrome are afforded the standard care for all children as outlined in the American Academy of Pediatrics “Recommendations for Preventive Pediatric Health Care.”33 ● indicates to be performed; —, not applicable.

    • ↵a Strabismus may occur anytime between birth and 4 years of age.

    • ↵b Serous otitis can occur throughout childhood, and the resulting hearing loss can further impair speech development. Pressure-equalizing tubes may be needed.

    • ↵c Joint laxity, hip dislocation, or clubfoot may be seen.

    • ↵d Mitral valve prolapse is possible.

    • ↵e Irritability, hypotonia, and tantrums may begin to be seen.

    • ↵f Seizures more commonly occur in this age group.

    • ↵g Assess for atypical seizures, especially when any neurologic symptoms exist or if intellectual function decreases.

    • ↵h Infants with fragile X syndrome are often described as stiff and irritable and may feed poorly.

    • ↵i Violent outbursts may appear in this age group.

    • ↵j Review molecular testing and discuss risks within the family; genetic counseling is strongly encouraged.

    • ↵k Review risk to offspring of the affected person.

    • ↵l Family support and issues of what to tell others are important at the time of diagnosis regardless of the child's age.

    • ↵m Address sexual issues.

    • ↵n Ask parents about violent outbursts.

    • ↵o Review the preschool program with regard to special educational needs and future placement.

    • ↵p Discuss the need for planning for vocational training.

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Pediatrics
Vol. 127, Issue 5
1 May 2011
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Health Supervision for Children With Fragile X Syndrome
Joseph H. Hersh, Robert A. Saul, Committee on Genetics
Pediatrics May 2011, 127 (5) 994-1006; DOI: 10.1542/peds.2010-3500

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Health Supervision for Children With Fragile X Syndrome
Joseph H. Hersh, Robert A. Saul, Committee on Genetics
Pediatrics May 2011, 127 (5) 994-1006; DOI: 10.1542/peds.2010-3500
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  • Article
    • Abstract
    • INTRODUCTION
    • THE PRENATAL VISIT
    • HEALTH SUPERVISION FROM BIRTH TO 1 MONTH: NEWBORNS (TABLE 2)
    • HEALTH SUPERVISION FROM 1 MONTH TO 1 YEAR: INFANCY (TABLE 2)
    • HEALTH SUPERVISION FROM 1 TO 5 YEARS: EARLY CHILDHOOD (TABLE 2)
    • HEALTH SUPERVISION FROM 5 TO 12 YEARS: LATE CHILDHOOD (TABLE 2)
    • HEALTH SUPERVISION FROM 13 TO 21 YEARS OR OLDER: ADOLESCENCE TO EARLY ADULTHOOD (TABLE 2)
    • HEALTH SUPERVISION IN ADULTHOOD (TABLE 2)
    • Lead Authors
    • Committee on Genetics, 2009–2010
    • Former Committee on Genetics Member
    • Liaisons
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    • REFERENCES
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Related Articles

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Cited By...

  • Increased aperiodic gamma power in young boys with Fragile X is associated with better language ability
  • A mouse model of Bardet-Biedl Syndrome has impaired fear memory, which is rescued by lithium treatment
  • Public Health Literature Review of Fragile X Syndrome
  • Three Faces of Fragile X
  • A Quality Improvement Collaborative to Improve Pediatric Primary Care Genetic Services
  • Fragile X Syndrome: A Review of Associated Medical Problems
  • Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays
  • Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile X
  • Difficult diagnosis: AAP report offers updated age-related health supervision guidelines for Fragile X syndrome
  • Google Scholar

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