Health supervision for children with fragile X syndrome

Pediatrics. 2011 May;127(5):994-1006. doi: 10.1542/peds.2010-3500. Epub 2011 Apr 25.


Fragile X syndrome (an FMR1-related disorder) is the most commonly inherited form of mental retardation. Early physical recognition is difficult, so boys with developmental delay should be strongly considered for molecular testing. The characteristic adult phenotype usually does not develop until the second decade of life. Girls can also be affected with developmental delay. Because multiple family members can be affected with mental retardation and other conditions (premature ovarian failure and tremor/ataxia), family history information is of critical importance for the diagnosis and management of affected patients and their families. This report summarizes issues for fragile X syndrome regarding clinical diagnosis, laboratory diagnosis, genetic counseling, related health problems, behavior management, and age-related health supervision guidelines. The diagnosis of fragile X syndrome not only involves the affected children but also potentially has significant health consequences for multiple generations in each family.

Publication types

  • Review

MeSH terms

  • Child
  • Child, Preschool
  • Developmental Disabilities / genetics
  • Developmental Disabilities / therapy*
  • Early Diagnosis
  • Female
  • Fragile X Mental Retardation Protein / genetics
  • Fragile X Syndrome / diagnosis*
  • Fragile X Syndrome / genetics
  • Fragile X Syndrome / therapy*
  • Genetic Counseling / standards
  • Genetic Testing / standards*
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics
  • Intellectual Disability / therapy*
  • Long-Term Care
  • Male
  • Monitoring, Physiologic / methods
  • Pediatrics / standards
  • Pedigree
  • Practice Guidelines as Topic
  • Prognosis
  • Risk Assessment
  • Severity of Illness Index
  • Sex Factors
  • Societies, Medical
  • United States


  • Fragile X Mental Retardation Protein