Evidence map›Paper›PMID 24170272›Full record

ArticleThe American journal of psychiatry2014

A genome scan for loci shared by autism spectrum disorder and language impairment.

Christopher W Bartlett, Liping Hou, Judy F Flax, Abby Hare, Soo Yeon Cheong, Zena Fermano, Barbie Zimmerman-Bier, Charles Cartwright, Marco A Azaro, Steven Buyske and 1 more

Open access · greenAbstract read
In one paragraph

Article in The American journal of psychiatry, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 3 pooled it
1.9field-weighted citation impact, top 15% 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

22 citing papers in PubMed, 3 syntheses or guidelines pooled it, 37 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Language impairment and dyslexia genes influence language skills in children with autism spectrum disorders.Autism research : official journal of the International Society for Autism Research · 2015
    Pooled it
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  13. Social (Pragmatic) Communication Disorder: Another name for the Broad Autism Phenotype?Autism : the international journal of research and practice · 2019
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  14. Review
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  19. Discourse/Conversation Analysis and Autism Spectrum Disorder.Journal of autism and developmental disorders · 2016
    Article
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors at 2 institutions in 1 country.

Christopher W Bartlett
Liping Hou
Judy F Flax
Abby Hare
Soo Yeon Cheong
Zena Fermano
Barbie Zimmerman-Bier
Charles Cartwright
Marco A Azaro
Steven Buyske
Linda M Brzustowicz
Rutgers, The State University of New Jersey · USSaint Peter's University Hospital · US

Funding

NIMH Center Repository Supporting Stem Cell ResearchU24MH068457 · NIMH · RUTGERS THE ST UNIV OF NJ NEW BRUNSWICK · PI BRZUSTOWICZ, LINDA M, KNOWLES, JAMES A · 2003 to 2024
$213.8M
Genetic Components of Autism Spectrum DisordersR01MH070366 · NIMH · RUTGERS THE ST UNIV OF NJ NEW BRUNSWICK · PI BRZUSTOWICZ, LINDA M · 2003 to 2007
$3.6M
Behavioral and Genetic Biomarker Development for Autism and Related DisordersRC1MH088288 · NIMH · RUTGERS, THE STATE UNIV OF N.J. · PI BRZUSTOWICZ, LINDA M · 2009 to 2010
$994k
NIMH NIH HHS R01 MH-070366NIMH NIH HHS R01 MH070366NIMH NIH HHS RC1 MH-088288NIMH NIH HHS RC1 MH088288NIMH NIH HHS U24 MH-068457NIMH NIH HHS U24 MH068457
6 · The paper itself

Abstract

objectiveThe authors conducted a genetic linkage study of families that have both autism spectrum disorder (ASD) and language-impaired probands to find common communication impairment loci. The hypothesis was that these families have a high genetic loading for impairments in language ability, thus influencing the language and communication deficits of the family members with ASD. Comprehensive behavioral phenotyping of the families also enabled linkage analysis of quantitative measures, including normal, subclinical, and disordered variation in all family members for the three general autism symptom domains: social, communication, and compulsive behaviors.

methodThe primary linkage analysis coded persons with either ASD or specific language impairment as "affected." The secondary linkage analysis consisted of quantitative metrics of autism-associated behaviors capturing normal to clinically severe variation, measured in all family members.

resultsLinkage to language phenotypes was established at two novel chromosomal loci, 15q23-26 and 16p12. The secondary analysis of normal and disordered quantitative variation in social and compulsive behaviors established linkage to two loci for social behaviors (at 14q and 15q) and one locus for repetitive behaviors (at 13q).

conclusionThese data indicate shared etiology of ASD and specific language impairment at two novel loci. Additionally, nonlanguage phenotypes based on social aloofness and rigid personality traits showed compelling evidence for linkage in this study group. Further genetic mapping is warranted at these loci.

Indexed as

Genetic LinkageGenetic LociGenetic Predisposition to DiseaseChild Development Disorders, PervasiveGenome, HumanHumansLanguageLanguage DisordersPhenotypeQuantitative Trait Loci

Identifiers

PMID24170272
PMCPMC4431698
OpenAlexW2151396707

What OpenQuestion holds

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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.