Health supervision for children with fragile X syndrome.

Abstract:

: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.

journal_name

Pediatrics

journal_title

Pediatrics

authors

Hersh JH,Saul RA,Committee on Genetics.

doi

10.1542/peds.2010-3500

subject

Has Abstract

pub_date

2011-05-01 00:00:00

pages

994-1006

issue

5

eissn

0031-4005

issn

1098-4275

pii

peds.2010-3500

journal_volume

127

pub_type

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