Evidence map›Paper›PMID 22517379›Full record

ArticlePsychiatric genetics2012

Motor sequencing deficit as an endophenotype of speech sound disorder: a genome-wide linkage analysis in a multigenerational family.

Beate Peter, Mark Matsushita, Wendy H Raskind

Abstract read
In one paragraph

Article in Psychiatric genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
2.9field-weighted citation impact, top 9% 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

17 citing papers in PubMed, 33 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. A frequent acoustic sign of speech motor delay (SMD).Clinical linguistics & phonetics · 2019
    Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Nonspeech Oral Movements and Oral Motor Disorders: A Narrative Review.American journal of speech-language pathology · 2015
    Review
  10. Linkage analysis in a Dutch population isolate shows no major gene for left-handedness or atypical language lateralization.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2015
    Article
  11. Article
  12. Review
  13. Direct and octave-shifted pitch matching during nonword imitations in men, women, and children.Journal of voice : official journal of the Voice Foundation · 2015
    Observational
  14. Genome-Wide Studies of Specific Language Impairment.Current behavioral neuroscience reports · 2014
    Review
  15. Review
  16. Article
  17. 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

3 authors at 1 institution in 1 country.

Beate PeterDepartment of Speech and Hearing Sciences, University of Washington, Seattle, Washington 98195, USA. bvpeter@u.washington.edu
Mark Matsushita
Wendy H Raskind
University of Washington · US

Funding

Training Program in Hearing and BalanceT32DC000033 · NIDCD · UNIVERSITY OF WASHINGTON · PI WERNER, LYNNE A. · 1991 to 2015
$3.9M
Genetics Contributions to Endophenotypes of DyslexiaR01HD054562 · NICHD · UNIVERSITY OF WASHINGTON · PI RASKIND, WENDY H · 2007 to 2011
$1.8M
Genetics of speech disordersR03DC010886 · NIDCD · UNIVERSITY OF WASHINGTON · PI PETER, BEATE · 2011 to 2013
$460k
NICHD NIH HHS R01 HD054562NICHD NIH HHS R01HD054562NIDCD NIH HHS 1R03DC010886-01A1NIDCD NIH HHS R03 DC010886NIDCD NIH HHS T32 DC000033NIDCD NIH HHS T32DC00033
6 · The paper itself

Abstract

objectivesThe aim of this pilot study was to investigate a measure of motor sequencing deficit as a potential endophenotype of speech sound disorder (SSD) in a multigenerational family with evidence of familial SSD.

methodsIn a multigenerational family with evidence of a familial motor-based SSD, affectation status and a measure of motor sequencing during oral motor testing were obtained. To further investigate the role of motor sequencing as an endophenotype for genetic studies, parametric and nonparametric linkage analyses were carried out using a genome-wide panel of 404 microsatellites.

resultsIn seven of the 10 family members with available data, SSD affectation status and motor sequencing status coincided. Linkage analysis revealed four regions of interest, 6p21, 7q32, 7q36, and 8q24, primarily identified with the measure of motor sequencing ability. The 6p21 region overlaps with a locus implicated in rapid alternating naming in a recent genome-wide dyslexia linkage study. The 7q32 locus contains a locus implicated in dyslexia. The 7q36 locus borders on a gene known to affect the component traits of language impairment.

conclusionThe results are consistent with a motor-based endophenotype of SSD that would be informative for genetic studies. The linkage results in this first genome-wide study in a multigenerational family with SSD warrant follow-up in additional families and with fine mapping or next-generation approaches to gene identification.

Indexed as

EndophenotypesFamily CharacteristicsGenetic LinkageGenetic Predisposition to DiseaseGenome-Wide Association StudyChildChild, PreschoolFemaleHumansLanguage DisordersLod ScoreMalePedigreeSpeech Sound Disorder

Identifiers

PMID22517379
PMCPMC3407825
OpenAlexW2017673472

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.