Article Figures & Data
Figures
- 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.)
Tables
- TABLE 1
Risk of Expansion to a Full Mutation in Male Offspring Based on the CGG Repeat Number in the Mother1,34
CGG Repeat Number Risk for Expansion to a Full Mutation, % 59–69 37 70–79 65 80–89 70 90–99 95 ≥100 100 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.
In this issue
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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
- Staff
- Footnotes
- REFERENCES
- Figures & Data
- Info & Metrics
- Comments
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