Format

Send to:

Choose Destination
See comment in PubMed Commons below
Am J Intellect Dev Disabil. 2013 Jul;118(4):284-93. doi: 10.1352/1944-7558-188.4.284.

Developmental and behavioral pediatricians' attitudes toward screening for fragile X.

Author information

  • 1University of Chicago, Chicago, IL 60637, USA. kacharya@peds.bsd.uchicago.edu

Abstract

Developmental and behavioral pediatricians (DBP) diagnose and care for children with fragile X syndrome. Their attitudes toward FMR1 newborn screening (NBS) and FMR1 carrier testing in childhood could highlight potential pitfalls with FMR1 NBS. We conducted a cross-sectional survey with an adjusted response rate of 61%. Among DBP, 74% supported universal FMR1 NBS, preferring to identify both full mutations and premutations. DBP also support FMR1 testing of asymptomatic siblings. Although DBP support testing for premutations at various points in the lifespan, DBP are not familiar with the array of fragile X-associated disorders (FXAD). Targeted educational interventions are needed to ensure that all health care providers have the knowledge and competence to consent and to counsel families on FXAD.

PMID:
23937370
[PubMed - indexed for MEDLINE]
PMCID:
PMC3744113
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Allen Press, Inc. Icon for PubMed Central
    Loading ...
    Write to the Help Desk