Health supervision for children with fragile X syndrome

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 th...

Full description

Saved in:
Bibliographic Details
Published in:Pediatrics (Evanston) 2011-05, Vol.127 (5), p.994-1006
Main Authors: Hersh, Joseph H, Saul, Robert A
Format: Article
Language:English
Subjects:
Care and treatment
Child
Child psychopathology
Child, Preschool
Childhood mental disorders
Developmental Disabilities - genetics
Developmental Disabilities - therapy
Diagnosis
Disease management
Early Diagnosis
Family medical history
Female
Fragile X Mental Retardation Protein - genetics
Fragile X syndrome
Fragile X Syndrome - diagnosis
Fragile X Syndrome - genetics
Fragile X Syndrome - therapy
Genetic Counseling - standards
Genetic disorders
Genetic Testing - standards
Genotype & phenotype
Humans
Infant
Infant, Newborn
Intellectual disabilities
Intellectual Disability - diagnosis
Intellectual Disability - genetics
Intellectual Disability - therapy
Long-Term Care
Male
Medical diagnosis
Monitoring, Physiologic - methods
Pediatrics
Pediatrics - standards
Pedigree
Practice guidelines (Medicine)
Practice Guidelines as Topic
Prognosis
Risk Assessment
Severity of Illness Index
Sex Factors
Societies, Medical
United States
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.2010-3500