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
    Ocularaaaa
    Ear, nose, throatbbb
    Skeletonc
    Cardiacdd
    Measure testes
    Developmente
    Neurologicfg
Behaviorhhhhii
Anticipatory guidance
    Geneticsjkk
    Psychosociallllll
    Support groups
    Early intervention, physical and other therapies
    Behaviorm,nm,n
    Educationopp
  • 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.