Fragile X Syndrome: Guidelines for Health Supervision
Infancy to 1 y | Early Childhood, 1–5 y | Late Childhood, 5–12 y | Adolescence to Early Adulthood, ≥13 y | |||
---|---|---|---|---|---|---|
Newborn | 1–6 mo | 6–12 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.