TABLE 2

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	Early Childhood, 1–5 y	Late Childhood, 5–12 y	Adolescence to Early Adulthood, ≥13 y
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.