Evidence map›Paper›PMID 22693142›Full record

ArticleAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2012

Defining genetically meaningful language and personality traits in relatives of individuals with fragile X syndrome and relatives of individuals with autism.

Molly Losh, Jessica Klusek, Gary E Martin, John Sideris, Morgan Parlier, Joseph Piven

Abstract read
In one paragraph

Article in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers.

0numbers the graph read from it
0cells of the map it votes in
67citing papers in PubMed
–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

67 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. The impact of individual factors on linguistic alignment of autistic boys and their mothers.Autism : the international journal of research and practice · 2026
    Article
  6. Article
  7. Cognitive-behavioral phenotypes inFrontiers in molecular neuroscience · 2026
    Article
  8. Article
  9. Narrative Ability in Autism and First-Degree Relatives.Journal of autism and developmental disorders · 2025
    Article
  10. Article
  11. Prosodic Differences in Women with theInternational journal of molecular sciences · 2025
    Article
  12. Article
  13. Social Communication Delay in an Unbiased Sample of Preschoolers With theJournal of speech, language, and hearing research : JSLHR · 2024
    Article
  14. Review
  15. Review
  16. Article
  17. Article
  18. Detecting autism from picture book narratives using deep neural utterance embeddings.International journal of language & communication disorders · 2022
    Article
  19. Review
  20. Article

7 more citing papers are in PubMed but not listed here.

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

6 authors.

Molly LoshRoxelyn and Richard Pepper Department of Communication Sciences and Disorders, Northwestern University, Evanston, IL 60208, USA. m-losh@northwestern.edu
Jessica Klusek
Gary E Martin
John Sideris
Morgan Parlier
Joseph Piven

Funding

TREATMENT PROJECTU54MH066418 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI PIVEN, JOSEPH · 2002 to 2006
$7.9M
A Family-Genetic Study of Language in AutismR01DC010191 · NIDCD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Molly C Losh · 2010 to 2026
$7.8M
Pragmatic Skills of Young Males and Females with Fragile X SyndromeR01HD038819 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI MARTIN, GARY EVERETT · 2001 to 2011
$4.2M
An Investigation of Neuropsychological Endophenotypes in Autism and Fragile XR03MH079998 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI MARTIN, GARY EVERETT · 2008 to 2009
$148k
NICHD NIH HHS R01 HD038819NICHD NIH HHS R01 HD038819-09S1NIDCD NIH HHS R01 DC010191NIDCD NIH HHS R01 DC010191-01A1NIMH NIH HHS R01 MH079998-01NIMH NIH HHS R03 MH079998NIMH NIH HHS U54 MH066418NIMH NIH HHS U54 MH66418
6 · The paper itself

Abstract

Substantial phenotypic overlap exists between fragile X syndrome (FXS) and autism, suggesting that FMR1 (the gene causing FXS) poses a significant risk for autism. Cross-population comparisons of FXS and autism therefore offer a potentially valuable method for refining the range of phenotypes associated with variation in FMR1. This study adopted a broader phenotype approach, focusing on parents who are at increased genetic liability for autism or FXS. Women who were carriers of FMR1 in its premutation state were compared with mothers of individuals with autism, and controls in an attempt to determine whether subtle features of the broad autism phenotype may express at elevated rates among FMR1 premutation carriers. The principal personality and language features comprising the broad autism phenotype (i.e., rigid and aloof personality, and particular patterns of pragmatic language use) were assessed among 49 premutation carriers who were mothers of individuals with FXS, 89 mothers of individuals with autism, and 23 mothers of typically developing individuals. Relative to controls, the autism and premutation parent groups showed elevated rates of certain personality and language characteristics of the broad autism phenotype. Findings suggest partially overlapping personality and language profiles among autism and premutation parent groups, with rigid personality style and patterns of pragmatic language use emerging as features most clearly shared between groups. These results provide further evidence for the overlap of autism and FXS, and may implicate FMR1 in some of the subtle features comprising the broad autism phenotype.

Indexed as

LanguageParentsAdultAutistic DisorderFactor Analysis, StatisticalFemaleFragile X SyndromeHumansMaleModels, GeneticParent-Child RelationsPersonality

Identifiers

PMID22693142
PMCPMC3740587

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.