Evidence map›Paper›PMID 38009418›Full record

ArticleAnnals of clinical and translational neurology2024

Association of genetic and sulcal traits with executive function in congenital heart disease.

Lara Maleyeff, Jane W Newburger, David Wypij, Nina H Thomas, Evdokia Anagnoustou, Martina Brueckner, Wendy K Chung, John Cleveland, Sean Cunningham, Bruce D Gelb and 12 more

Open access · goldAbstract read
In one paragraph

Article in Annals of clinical and translational neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.3field-weighted citation impact, top 18% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

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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

22 authors at 15 institutions in 2 countries.

Lara MaleyeffDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
Jane W NewburgerDepartment of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
David WypijDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
Nina H ThomasDepartment of Child and Adolescent Psychiatry and Behavioral Sciences and Center for Human Phenomic Science, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Evdokia AnagnoustouDepartment of Pediatrics, Holland Bloorview Kids Rehabilitation Hospital, University of Toronto, Toronto, Ontario, Canada.
Martina BruecknerDepartment of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Wendy K ChungDepartment of Pediatrics, Columbia University Medical Center, New York, New York, USA.
John ClevelandDepartment of Surgery, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Sean CunninghamDivision of General Pediatrics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.
Bruce D GelbMindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Elizabeth GoldmuntzDivision of Cardiology, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Donald J HaglerCenter for Multimodal Imaging and Genetics, University of California San Diego, San Diego, California, USA.
Hao HuangDepartment of Radiology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Eileen KingDepartment of Pediatrics, University of Cincinnati, Cincinnati, Ohio, USA.
Patrick McQuillenDepartment of Pediatrics, University of California, San Francisco, California, USA.
Thomas A MillerDepartment of Pediatrics, Primary Children's Hospital, University of Utah, Salt Lake City, Utah, USA.
Ami Norris-BrilliantDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
George A PorterDepartment of Pediatrics, University of Rochester Medical Center, Rochester, New York, USA.
Amy E RobertsDepartment of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
P Ellen GrantDepartment of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0003-1005-4013
Kiho Im *Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
Sarah U Morton *Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0002-7816-2646
Boston Children's Hospital · USChildren's Hospital of Philadelphia · USChild Health and Development Institute · USCincinnati Children's Hospital Medical Center · USColumbia University Irving Medical Center · USHarvard University · USIcahn School of Medicine at Mount Sinai · USPrimary Children's Hospital · USUniversity of California, San Francisco · USUniversity of Rochester Medical Center · USUniversity of San Diego · USUniversity of Southern California · USUniversity of Toronto · CAUniversity of Utah · USYale University · US

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
The Harvard Clinical and Translational Science CenterUL1TR002541 · NCATS · HARVARD MEDICAL SCHOOL · PI NADLER, LEE MARSHALL · 2018 to 2022
$93.0M
Administrative Coordinating Center: Cardiovascular Development and Pediatric Cardiac Genomics ConsortiaU01HL131003 · NHLBI · CINCINNATI CHILDRENS HOSP MED CTR · PI CNOTA, JAMES, OLLBERDING, NICHOLAS J · 2016 to 2024
$54.8M
NHLBI Pediatric Translational Consortium Administrative Coordinating CenterU01HL098188 · NHLBI · NEW ENGLAND RESEARCH INSTITUTES, INC. · PI HAMZA, TAYE, MILLER, JULIE ELAINE · 2009 to 2015
$41.3M
Institutional Clinical and Translational Science AwardUL1TR000003 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI FITZGERALD, GARRET A · 2012 to 2015
$38.9M
Yale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0M
Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Hisashi Umemori · 2021 to 2026
$9.4M
Genomic Effects on Right Ventricular Function, Clinical Features and Outcomes in CHDU01HL098147 · NHLBI · BOSTON CHILDREN'S HOSPITAL · PI NEWBURGER, JANE W., ROBERTS, AMY E · 2009 to 2024
$6.7M
Genetic determinants of human heterotaxy and aortic arch malformationU01HL098162 · NHLBI · YALE UNIVERSITY · PI BRUECKNER, MARTINA, GRUBER, PETER J · 2009 to 2024
$5.9M
The Genetic Basis of Conotruncal DefectsU01HL098153 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI GOLDMUNTZ, ELIZABETH · 2009 to 2014
$4.3M
Genomic studies of secundum atrial septal defectsU01HL098123 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI GELB, BRUCE D · 2009 to 2014
$4.1M
Molecular approaches to gene identification in congenital heart diseaseU01HL098163 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CHUNG, WENDY K, WARBURTON, DOROTHY P. · 2009 to 2014
$3.9M
NCATS NIH HHS UL1 TR000003NCATS NIH HHS UL1 TR001863NCATS NIH HHS UL1 TR002541NCRR NIH HHS U01 HL098153NHGRI NIH HHS U54 HG006504NHLBI NIH HHS K08 HL157653NHLBI NIH HHS R01 HL128818NHLBI NIH HHS U01 HL098123NHLBI NIH HHS U01 HL098147NHLBI NIH HHS U01 HL098153NHLBI NIH HHS U01 HL098162NHLBI NIH HHS U01 HL098163NHLBI NIH HHS U01 HL098188NHLBI NIH HHS U01 HL131003NICHD NIH HHS P50 HD105351NIH HHS U54 HG006504NINDS NIH HHS R01 NS114087
6 · The paper itself

Abstract

objectivePersons with congenital heart disease (CHD) are at increased risk of neurodevelopmental disabilities, including impairments to executive function. Sulcal pattern features correlate with executive function in adolescents with single-ventricle heart disease and tetralogy of Fallot. However, the interaction of sulcal pattern features with genetic and participant factors in predicting executive dysfunction is unknown.

methodsWe studied sulcal pattern features, participant factors, and genetic risk for executive function impairment in a cohort with multiple CHD types using stepwise linear regression and machine learning.

resultsGenetic factors, including predicted damaging de novo or rare inherited variants in neurodevelopmental disabilities risk genes, apolipoprotein E genotype, and principal components of sulcal pattern features were associated with executive function measures after adjusting for age at testing, sex, mother's education, and biventricular versus single-ventricle CHD in a linear regression model. Using regression trees and bootstrap validation, younger participant age and larger alterations in sulcal pattern features were consistently identified as important predictors of decreased cognitive flexibility with left hemisphere graph topology often selected as the most important predictor. Inclusion of both sulcal pattern and genetic factors improved model fit compared to either alone.

interpretationWe conclude that sulcal measures remain important predictors of cognitive flexibility, and the model predicting executive outcomes is improved by inclusion of potential genetic sources of neurodevelopmental risk. If confirmed, measures of sulcal patterning may serve as early imaging biomarkers to identify those at heightened risk for future neurodevelopmental disabilities.

Indexed as

Executive FunctionHeart Defects, CongenitalAdolescentHumans

Identifiers

PMID38009418
PMCPMC10863927
OpenAlexW4389038247

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.