Evidence map›Paper›PMID 22704665›Full record

ArticleBiological psychiatry2012

Gene × gene interaction in shared etiology of autism and specific language impairment.

Christopher W Bartlett, Judy F Flax, Zena Fermano, Abby Hare, Liping Hou, Stephen A Petrill, Steven Buyske, Linda M Brzustowicz

Abstract read
In one paragraph

Article in Biological psychiatry, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 3 pooled it
1.0field-weighted citation impact, top 26% 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

21 citing papers in PubMed, 3 syntheses or guidelines pooled it, 27 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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  20. Developmental language disorders: challenges and implications of cross-group comparisons.Folia phoniatrica et logopaedica : official organ of the International Association of Logopedics and Phoniatrics (IALP) · 2013
    Review
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

8 authors at 3 institutions in 1 country.

Christopher W BartlettBattelle Center for Mathematical Medicine, The Research Institute at Nationwide Children's Hospital and Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA. bartletc@ccri.net
Judy F Flax
Zena Fermano
Abby Hare
Liping Hou
Stephen A Petrill
Steven Buyske
Linda M Brzustowicz
Rutgers, The State University of New Jersey · USThe Ohio State University · USNationwide Children's Hospital · US

Funding

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 MH070366NIMH NIH HHS R01MH070366NIMH NIH HHS RC1 MH088288NIMH NIH HHS RC1MH088288
6 · The paper itself

Abstract

backgroundTo examine the relationship between autism spectrum disorders (ASD) and specific language impairment (SLI), family studies typically take a comparative approach where families with one disease are examined for traits of the other disease. In contrast, the present report is the first study with both disorders required to be present in each family to provide a more direct test of the hypothesis of shared genetic etiology.

methodsWe behaviorally assessed 51 families including at least one person with ASD and at least one person with SLI (without ASD). Pedigree members were tested with 22 standardized measures of language and intelligence. Because these extended families include a nonshared environmental contrast, we calculated heritability, not just familiality, for each measure twice: 1) baseline heritability analysis, compared with; 2) heritability estimates after statistically removing ASD subjects from pedigrees.

resultsSignificant increases in heritability on four supra-linguistic measures (including Pragmatic Judgment) and a composite language score but not on any other measures were observed when removing ASD subjects from the analysis, indicating differential genetic effects that are unique to ASD. Nongenetic explanations such as effects of ASD severity or measurement error or low score variability in ASD subjects were systematically ruled out, leaving the hypothesis of nonadditive genetics effects as the potential source of the heritability change caused by ASD.

conclusionsAlthough the data suggest genetic risk factors common to both SLI and ASD, there are effects that seem unique to ASD, possibly caused by nonadditive gene-gene interactions of shared risk loci.

Indexed as

AdolescentChildChild Development Disorders, PervasiveChild, PreschoolFamily HealthFemaleHumansIntelligenceLanguage Development DisordersLikelihood FunctionsMaleMembrane ProteinsNerve Tissue ProteinsYoung AdultCNTNAP2 protein, humanMembrane ProteinsNerve Tissue Proteins

Identifiers

PMID22704665
PMCPMC3449050
OpenAlexW1994419972

What OpenQuestion holds

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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.