Fragile X syndrome: Management in children and adolescents
- Hilde Van Esch, MD, PhD
Hilde Van Esch, MD, PhD
- University Hospitals Leuven
- Section Editors
- Helen V Firth, DM, FRCP, DCH
Helen V Firth, DM, FRCP, DCH
- Section Editor — Genetics
- Consultant Clinical Geneticist
- Addenbrooke's Hospital, Cambridge, UK
- Carolyn Bridgemohan, MD
Carolyn Bridgemohan, MD
- Section Editor — Developmental and Behavioral Pediatrics
- Assistant Professor of Pediatrics
- Harvard Medical School
The management of children and adolescents with fragile X syndrome (FXS, also called fragile X mental retardation syndrome, X-linked mental retardation and macro-orchidism, and Martin-Bell syndrome) is individualized according to the child's cognitive and behavioral symptoms, strengths, and weaknesses [1,2]. (See 'Evaluation to determine extent of disease' below.)
Interventions may include individualized education plans, speech and language therapy, occupational therapy, behavior therapy, and pharmacotherapy. Few controlled trials have been performed to assess the effectiveness of these interventions in children with FXS [3,4]. However, they are effective in children with other cognitive or behavioral problems. (See "Intellectual disability in children: Management, outcomes, and prevention" and "Specific learning disabilities in children: Educational management".)
The management of children and adolescents with FXS is discussed in this topic review. The clinical features, diagnosis, and prenatal screening are discussed separately. (See "Fragile X syndrome: Clinical features and diagnosis in children and adolescents" and "Prenatal screening and diagnosis for fragile X syndrome".)
Families of individuals with FXS should be referred to a geneticist or genetic counselor for a detailed discussion of the inheritance of the fragile X mental retardation 1 (FMR1) mutation and testing of other family members. FXS test results should be interpreted for the family according to the guidelines established by the National Society of Genetic Counselors and the American Society of Human Genetics [2,5]. Family members at risk for premutation or full mutation of FMR1 should receive information about possible emotional, neurologic, and reproductive problems (eg, premature ovarian insufficiency).
EVALUATION TO DETERMINE EXTENT OF DISEASE
Following initial diagnosis of FXS, children and adolescents should undergo a multidisciplinary evaluation to determine the extent of disease . The evaluation should include:
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- GENETIC COUNSELING
- EVALUATION TO DETERMINE EXTENT OF DISEASE
- DEVELOPMENTAL AND EDUCATIONAL INTERVENTIONS
- BEHAVIORAL INTERVENTIONS
- HEALTH SUPERVISION
- Anticipatory guidance
- Hyperactivity and inattention
- Other behaviors
- Investigational therapies
- PRADER-WILLI PHENOTYPE
- INFORMATION FOR PATIENTS