CoChat
Sign Up
Cited by 175Genetics and Neurodevelopmental DisordersGenomics and Rare DiseasesFamily and Disability Support Research

No Change in the Age of Diagnosis for Fragile X Syndrome: Findings From a National Parent Survey

Bailey, Donald B., Raspa, Melissa, Bishop, Ellen, Holiday, David·2009·Pediatrics
DOI 10.1542/peds.2008-2992
Open this paper in CoChat — free account

Abstract

OBJECTIVE: To determine recent trends in the diagnosis of children with fragile X syndrome (FXS) and identify factors associated with the timing of diagnosis. METHODS: More than 1000 families of children with FXS participated in a national survey. Of these, 249 had their first child (213 boys, 36 girls) diagnosed between 2001 and 2007 and did not know about FXS in their family before diagnosis. These parents answered questions about the average age of first concerns, developmental delays, early intervention, and the FXS diagnosis. They also provided other information about their child and family, reported who made the diagnosis, and described ramifications for other children and extended family members. RESULTS: The average age of FXS diagnosis of boys remained relatively stable across the 7-year period at ∼35 to 37 months. The 36 girls with full mutation were given the diagnosis at an average age of 41.6 months. A trend was noted in earlier diagnosis of developmental delay for boys in more recent years. Approximately 25% of the families of male children had a second child with the full mutation before the diagnosis was given to the first child; 14 (39%) of the 36 families of female children had a second child with the full mutation before the diagnosis. CONCLUSIONS: Despite patient advocacy, professional recommendations regarding prompt referral for genetic testing, and increased exposure to information about FXS in the pediatric literature, no changes were detected in the age of diagnosis of FXS during the time period studied. Earlier identification in the absence of systematic screening will likely continue to be a challenge.

Integrity signals

Registry

Crossref · 10.1542/peds.2008-2992

Cites

28 of 28 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • Fragile X syndrome is often diagnosed in young children around 3 years of age who show delayed or absent speech.

    “A diagnosis of FXS is often made in young children of approximately 3 years of age (23), who show delayed or absent speech.”

    From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [23]

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Related

Authors
Bailey, D. B., Raspa, M., Bishop, E., & Holiday, D.
Affiliations
RTI International (US)
ORCID
Venue
Pediatrics
Publisher
American Academy of Pediatrics (AAP)
Published
2009-08-01
Volume
124
Issue
2
Pages
527-533
ISSN
  • 0031-4005 (ISSN-L)
  • 1098-4275
DOI
10.1542/peds.2008-2992
OpenAlex
W2059728934
Cited by
175
References
28
Citations by year
2026: 5 · 2025: 5 · 2024: 12 · 2023: 3 · 2022: 8 · 2021: 13 · 2020: 3 · 2019: 14 · 2018: 14 · 2017: 16 · 2016: 15 · 2015: 13 · 2014: 13 · 2013: 8 · 2012: 11
FWCI
6.39
Type
journal article
Language
en
Open access
closed
Locations
  • PEDIATRICS (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • FRAXA Research Foundation
  • U.S. Department of Veterans Affairs (U50/CU300860)
  • American Academy of Neurology
  • Association for Prevention Teaching and Research
  • Centers for Disease Control and Prevention
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Social Sciences › Psychology › Clinical Psychology › Family and Disability Support Research
Keywords
fragile X syndrome, age at diagnosis, diagnostic timing, developmental delay, early intervention, full mutation, genetic testing, parental awareness, sex differences in diagnosis, genetic screening
MeSH terms
Abortion, Eugenic, Age Factors, Developmental Disabilities, Child, Preschool, Consumer Behavior, Diagnosis, Differential, DNA Mutational Analysis, Family Planning Services, Female, Fragile X Syndrome, Genetic Counseling, Genetic Testing, Health Surveys, Genetic Carrier Screening, Humans, Infant, Male, Pregnancy, Sex Factors, Early Intervention, Educational, Early Diagnosis

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review