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TABLE 2

Fragile X Syndrome: Guidelines for Health Supervision

Infancy to 1 y
Early 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 
Infancy to 1 y
Early 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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