Evidence map›Paper›PMID 18627038›Full record

ArticleAmerican journal of medical genetics. Part A2008

Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder.

Catalina García-Nonell, Eugenia Rigau Ratera, Susan Harris, David Hessl, Michele Y Ono, Nicole Tartaglia, Emily Marvin, Flora Tassone, Randi J Hagerman

Abstract read
In one paragraph

Article in American journal of medical genetics. Part A, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
49citing papers in PubMed, 1 pooled it
4.2field-weighted citation impact, top 6% of its field
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

49 citing papers in PubMed, 1 synthesis or guideline pooled it, 77 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. A novel eye-tracking paradigm for indexing social avoidance-related behavior in fragile X syndrome.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2020
    Article
  11. Article
  12. Next-Generation Sequencing in Autism Spectrum Disorder.Cold Spring Harbor perspectives in medicine · 2019
    Review
  13. Early gesture use in fragile X syndrome.Journal of intellectual disability research : JIDR · 2018
    Article
  14. Article
  15. The Emergence of Effortful Control in Young Boys With Fragile X Syndrome.American journal on intellectual and developmental disabilities · 2018
    Article
  16. Article
  17. Fragile X syndrome: A review of clinical management.Intractable & rare diseases research · 2016
    Review
  18. Epilepsy and Autism.Cold Spring Harbor perspectives in medicine · 2016
    Review
  19. Article
  20. 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

9 authors at 4 institutions in 2 countries.

Catalina García-NonellPSYNCRON, Barcelona, Spain.
Eugenia Rigau Ratera
Susan Harris
David Hessl
Michele Y Ono
Nicole Tartaglia
Emily Marvin
Flora Tassone
Randi J Hagerman
University of California, Davis · USUC Davis Health · USCorporació Sanitària Parc Taulí · ESUniversity of Colorado Denver · US

Funding

Restoring FMRP Phenotypes Frpm Temporal Regional and Splice- Isoforms VarationsP30HD002274 · NICHD · UNIVERSITY OF WASHINGTON · PI GURALNICK, MICHAEL J · 1985 to 2013
$33.6M
GENOTYPE/PHENOTYPE RELATIONSHIPS IN FRAGILE X FAMILIESR01HD036071 · NICHD · UNIVERSITY OF CALIFORNIA DAVIS · PI PAUL J HAGERMAN, RANDI J. HAGERMAN · 1998 to 2026
$13.8M
NICHD NIH HHS HD02274NICHD NIH HHS HD36071NICHD NIH HHS P30 HD002274NICHD NIH HHS R01 HD036071
6 · The paper itself

Abstract

This study examined whether secondary medical diagnoses that affect CNS function (i.e., seizures, malformations, or genetic disorders), are more likely to occur in individuals with fragile X syndrome (FXS) and autism spectrum disorder (FXS + ASD) or FXS alone. Ninety males (3-25 years) with FXS or FXS + ASD were evaluated for secondary medical diagnoses by medical history and examination. A significant difference in the incidence of medical problems was found between patients with FXS + ASD (38.6%) and FXS alone (18.2%, P < 0.05). Medical problems that affect the CNS are more likely to occur in those with FXS + ASD and it is probable that additional brain dysfunction associated with these medical problems enhance the risk of autism in those with FXS.

Indexed as

AdolescentAdultAutistic DisorderChildChild Development Disorders, PervasiveChild, PreschoolChromosome AberrationsFragile X SyndromeHumansMaleMosaicismRetrospective StudiesSeizuresTrinucleotide Repeats

Identifiers

PMID18627038
PMCPMC4097171
OpenAlexW2088714361

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.