Evidence map›Paper›PMID 24058641›Full record

Trial reportPloS one2013

Mode of genetic inheritance modifies the association of head circumference and autism-related symptoms: a cross-sectional study.

Jonathan M Davis, Jonathon G Keeney, James M Sikela, Susan Hepburn

Open access · goldAbstract readClinical Trial
In one paragraph

Trial report in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.8field-weighted citation impact, top 29% 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

7 citing papers in PubMed, 13 citations in OpenAlex.

  1. Heterogeneity of autism symptoms in community-referred infants and toddlers at elevated or low familial likelihood of autism.Autism research : official journal of the International Society for Autism Research · 2023
    Article
  2. Article
  3. Article
  4. A prospective study of fetal head growth, autistic traits and autism spectrum disorder.Autism research : official journal of the International Society for Autism Research · 2018
    Article
  5. Does the cognitive architecture of simplex and multiplex ASD families differ?Journal of autism and developmental disorders · 2016
    Article
  6. Article
  7. 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

4 authors at 1 institution in 1 country.

Jonathan M DavisDepartment of Biochemistry and Molecular Genetics & Human Medical Genetics & Neuroscience Programs, University of Colorado Denver Anschutz Medical Campus, Aurora, Colorado, United States of America.
Jonathon G Keeney
James M Sikela
Susan Hepburn
University of Colorado Anschutz Medical Campus · US

Funding

Center for Genomic and Phenomic Studies in AutismU24MH081810 · NIMH · UNIVERSITY OF SOUTHERN CALIFORNIA · PI LAJONCHERE, CLARA M · 2007 to 2011
$8.3M
Genome Variation Underlying Alcohol ActionR01AA011853 · NIAAA · UNIVERSITY OF COLORADO DENVER · PI SIKELA, JAMES M · 1998 to 2013
$4.9M
Investigation of DUF1220 Domains in Human Brain Function and DiseaseR01MH081203 · NIMH · UNIVERSITY OF COLORADO DENVER · PI SIKELA, JAMES M · 2009 to 2013
$2.0M
NIAAA NIH HHS 5R01AA011853-13NIAAA NIH HHS R01 AA011853NIMH NIH HHS 1U24MH081810NIMH NIH HHS 5R01 MH081203-04NIMH NIH HHS R01 MH081203NIMH NIH HHS U24 MH081810
6 · The paper itself

Abstract

backgroundFrequently individuals with autism spectrum disorder (ASD) have been noted with a larger head circumference (HC) than their typical developing peers. Biologic hypotheses suggest that an overly rapid brain growth leads to the core symptoms of ASD by impairing connectivity. Literature is divided however where deleterious, protective and null associations of HC with ASD symptoms in individuals with ASD have been found.

methodIndividuals (n = 1,416) from the Autism Genetic Resource Exchange with ASD were examined for associations of HC with ASD like symptoms. Mixed models controlling for sex, age, race/ethnicity, simplex/multiplex status and accounting for correlations between siblings were used. Interactions by simplex/multiplex were explored. Adjustments for height in a sub-population with available data were explored as well.

resultsA Significant interaction term (p = 0.03) suggested that the effect of HC was dependent on whether the individual was simplex or multiplex. In simplex individuals at mean age (8.9 years) 1 cm increase in head circumference was associated with a 24% increase in the odds of a high social diagnostic score from the Autism Diagnostic Interview-Revised (odds ratio  = 1.24, p = 0.01). There was no association in multiplex individuals. Additionally, individuals classified with a non-verbal IQ <70 were 90% simplex and had a significantly increased head circumference (0.7 cm p = 0.03) relative to a mid-range non-verbal IQ group. Interestingly, children classified with a >110 non-verbal IQ also had an increased HC (0.4 cm p = 0.04), relative to a mid-range non-verbal IQ group, and were 90% multiplex. HC effects do not appear to be confounded by height, however, larger samples with height information are needed.

conclusionThe potential link between brain growth and autism like symptoms is complex and could depend on specific etiologies. Further investigations accounting for a likely mode of inheritance will help identify an ASD subtype related to HC.

Indexed as

Models, GeneticAdolescentAdultAutistic DisorderChildChild, PreschoolCross-Sectional StudiesFemaleHeadHumansInfantMaleOrgan Size

Identifiers

PMID24058641
PMCPMC3776732
OpenAlexW2037829233

What OpenQuestion holds

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LicenceCC BY
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.