Evidence map›Paper›PMID 37633900›Full record

ArticleJournal of neurodevelopmental disorders2023

Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome.

J Shane Kippenhan, Michael D Gregory, Tiffany Nash, Philip Kohn, Carolyn B Mervis, Daniel P Eisenberg, Madeline H Garvey, Katherine Roe, Colleen A Morris, Bhaskar Kolachana and 3 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neurodevelopmental disorders, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.6field-weighted citation impact, top 33% 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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Regulation and signaling of the LIM domain kinases.BioEssays : news and reviews in molecular, cellular and developmental biology · 2025
    Review
  3. 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

13 authors at 4 institutions in 3 countries.

J Shane KippenhanSection on Integrative Neuroimaging, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, 20892, USA. shane.kippenhan@nih.gov.ORCID http://orcid.org/0000-0002-5495-6636
Michael D GregorySection on Integrative Neuroimaging, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, 20892, USA.
Tiffany NashSection on Integrative Neuroimaging, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, 20892, USA.
Philip KohnSection on Integrative Neuroimaging, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, 20892, USA.
Carolyn B MervisNeurodevelopmental Sciences Laboratory, Department of Psychological and Brain Sciences, University of Louisville, Louisville, KY, 40202, USA.
Daniel P EisenbergSection on Integrative Neuroimaging, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, 20892, USA.
Madeline H GarveySection on Integrative Neuroimaging, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, 20892, USA.
Katherine RoeSection on Integrative Neuroimaging, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, 20892, USA.
Colleen A MorrisDepartment of Pediatrics, Kirk Kerkorian School of Medicine at UNLV, Las Vegas, NV, 89102, USA.
Bhaskar KolachanaClinical and Translational Neuroscience Branch, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, 20892, USA.
Ariel M PaniDepartment of Biology, University of Virginia, Charlottesville, VA, 22903, USA.
Leah SorcherSection on Integrative Neuroimaging, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, 20892, USA.
Karen F BermanSection on Integrative Neuroimaging, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, 20892, USA. bermank@mail.nih.gov.
National Institutes of Health · USUniversity of Louisville · USUniversity of Nevada, Las Vegas · USUniversity of Virginia · US

Funding

Multimodal Neuroimaging of Gene-Brain Relationships with a Focus on Williams Syndrome and 7q11.23 Duplication SyndromeZIAMH002863 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI BERMAN, KAREN FAITH · 2009 to 2025
$27.6M
Neurodevelopmental Genomics: Trajectories of Complex PhenotypesRC2MH089983 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RAQUEL E · 2009 to 2011
$14.3M
GENOTYPE/PHENOTYPE CORRELATIONS IN WILLIAMS SYNDROMER01NS035102 · NINDS · UNIVERSITY OF LOUISVILLE · PI MERVIS, CAROLYN B. · 1996 to 2009
$12.5M
Multimodal Imaging: Genetic and Environmental Effects in NeuropsychiatryZIAMH002942 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI BERMAN, KAREN FAITH · 2013 to 2022
$12.2M
2/2 Neurodevelopmental Genomics: Trajectories of Complex PhenotypesRC2MH089924 · NIMH · CHILDREN'S HOSP OF PHILADELPHIA · PI HAKONARSON, HAKON · 2009 to 2011
$10.7M
Early Development with Williams or Down SyndromeR37HD029957 · NICHD · UNIVERSITY OF LOUISVILLE · PI MERVIS, CAROLYN B. · 2004 to 2013
$3.4M
Intramural NIH HHS ZIA MH002863Intramural NIH HHS ZIA MH002942NICHD NIH HHS R37 HD029957NIMH NIH HHS RC2 MH089924NIMH NIH HHS RC2 MH089983NINDS NIH HHS R01 NS035102
6 · The paper itself

Abstract

backgroundWilliams syndrome (WS), a rare neurodevelopmental disorder caused by hemizygous deletion of ~ 25 genes from chromosomal band 7q11.23, affords an exceptional opportunity to study associations between a well-delineated genetic abnormality and a well-characterized neurobehavioral profile. Clinically, WS is typified by increased social drive (often termed "hypersociability") and severe visuospatial construction deficits. Previous studies have linked visuospatial problems in WS with alterations in the dorsal visual processing stream. We investigated the impacts of hemideletion and haplotype variation of LIMK1, a gene hemideleted in WS and linked to neuronal maturation and migration, on the structure and function of the dorsal stream, specifically the intraparietal sulcus (IPS), a region known to be altered in adults with WS.

methodsWe tested for IPS structural and functional changes using longitudinal MRI in a developing cohort of children with WS (76 visits from 33 participants, compared to 280 visits from 94 typically developing age- and sex-matched participants) over the age range of 5-22. We also performed MRI studies of 12 individuals with rare, shorter hemideletions at 7q11.23, all of which included LIMK1. Finally, we tested for effects of LIMK1 variation on IPS structure and imputed LIMK1 expression in two independent cohorts of healthy individuals from the general population.

resultsIPS structural (p < 10

conclusionsThis work offers insight into neurobiological and genetic mechanisms responsible for the WS phenotype and also more generally provides a striking example of the mechanisms by which genetic variation, acting by means of molecular effects on a neural intermediary, can influence human cognition and, in some cases, lead to neurocognitive disorders.

Indexed as

Williams SyndromeAdultCerebral CortexChildChild, PreschoolCognitionGray MatterHaplotypesHumansLim KinasesLIMK1 protein, humanLim KinasesDorsal streamHemideletionIntraparietal sulcusLIMK1Williams syndrome

Identifiers

PMID37633900
PMCPMC10464045
OpenAlexW4386191873

What OpenQuestion holds

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Registered trials

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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.