Evidence map›Paper›PMID 28814537›Full record

SynthesisPediatrics2017

Public Health Literature Review of Fragile X Syndrome.

Melissa Raspa, Anne C Wheeler, Catharine Riley

Abstract readSystematic Review
In one paragraph

Synthesis in Pediatrics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

30 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Trial
  3. Trial
  4. Review
  5. Characterizing Populations Based on Proximity to a Fragile X Syndrome Specialty Clinic.American journal on intellectual and developmental disabilities · 2026
    Article
  6. Review
  7. Language Skills Influence Transition Planning in Adolescents With Fragile X Syndrome.American journal on intellectual and developmental disabilities · 2024
    Article
  8. Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Artificial intelligence-assisted phenotype discovery of fragile X syndrome in a population-based sample.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
    Article
  15. Article
  16. Fragile X Syndrome-Associated Emergency Department Visits in the United States, 2006-2011.American journal on intellectual and developmental disabilities · 2020
    Article
  17. Article
  18. Identifying Atypical Development: A Role of Day-Care Workers?Journal of autism and developmental disorders · 2019
    Article
  19. Article
  20. A Description of the Educational Setting Among Individuals With Fragile X Syndrome.American journal on intellectual and developmental disabilities · 2019
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Melissa RaspaRTI International, Research Triangle Park, North Carolina; and mraspa@rti.org.
Anne C WheelerRTI International, Research Triangle Park, North Carolina; and.
Catharine RileyNational Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia.

Funding

Intramural CDC HHS CC999999
6 · The paper itself

Abstract

objectivesThe purpose of this systematic literature review is to describe what is known about fragile X syndrome (FXS) and to identify research gaps. The results can be used to help inform future public health research and provide pediatricians with up-to-date information about the implications of the condition for individuals and their families.

methodsAn electronic literature search was conducted, guided by a variety of key words. The search focused on 4 areas of both clinical and public health importance: (1) the full mutation phenotype, (2) developmental trajectories across the life span, (3) available interventions and treatments, and (4) impact on the family. A total of 661 articles were examined and 203 were included in the review.

resultsThe information is presented in the following categories: developmental profile (cognition, language, functional skills, and transition to adulthood), social-emotional profile (cooccurring psychiatric conditions and behavior problems), medical profile (physical features, seizures, sleep, health problems, and physiologic features), treatment and interventions (educational/behavioral, allied health services, and pharmacologic), and impact on the family (family environment and financial impact). Research gaps also are presented.

conclusionsThe identification and treatment of FXS remains an important public health and clinical concern. The information presented in this article provides a more robust understanding of FXS and the impact of this complex condition for pediatricians. Despite a wealth of information about the condition, much work remains to fully support affected individuals and their families.

Indexed as

Public HealthAdultCaregiversChildCross-Sectional StudiesDelivery of Health CareDevelopmental DisabilitiesDiagnosis, DifferentialDNA Mutational AnalysisFemaleFragile X Messenger Ribonucleoprotein 1Fragile X SyndromeGenetic TestingHumansLanguage Development DisordersMaleFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1

Identifiers

PMID28814537
PMCPMC5621610

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.