Evidence map›Paper›PMID 39365000›Full record

ArticlePsychological medicine2024

Beyond IQ: executive function deficits and their relation to functional, clinical, and neuroimaging outcomes in 3q29 deletion syndrome.

Rebecca M Pollak, Esra Sefik, Katrina Aberizk, Kuaikuai Duan, Roberto Espana, Ryan M Guest, Adam E Goldman-Yassen, Katrina Goines, Derek M Novacek, Celine A Saulnier and 8 more

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Article in Psychological medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

18 authors.

Rebecca M PollakCenter for Advanced Biotechnology and Medicine, Robert Wood Johnson Medical School, Rutgers University, Piscataway, NJ, USA.ORCID https://orcid.org/0000-0002-0428-240X
Esra SefikPrinceton Neuroscience Institute, Princeton University, Princeton, NJ, USA.
Katrina AberizkDepartment of Psychology, Emory University, Atlanta, GA, USA.
Kuaikuai DuanMarcus Autism Center, Children's Healthcare of Atlanta & Emory University School of Medicine, Atlanta, GA, USA.
Roberto EspanaDepartment of Psychology, Emory University, Atlanta, GA, USA.
Ryan M GuestDepartment of Psychology, Emory University, Atlanta, GA, USA.
Adam E Goldman-YassenDepartment of Radiology and Imaging Sciences, Emory University School of Medicine, Atlanta, GA, USA.
Katrina GoinesDepartment of Psychology, Emory University, Atlanta, GA, USA.
Derek M NovacekDesert Pacific Mental Illness Research, Education, and Clinical Center, VA Greater Los Angeles Healthcare System, Los Angeles, CA, USA.
Celine A SaulnierDepartment of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
Cheryl KlaimanMarcus Autism Center, Children's Healthcare of Atlanta & Emory University School of Medicine, Atlanta, GA, USA.
Stormi PulverMarcus Autism Center, Children's Healthcare of Atlanta & Emory University School of Medicine, Atlanta, GA, USA.
Joseph F CubellsDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
T Lindsey BurrellAtlanta Children's Center, Atlanta, GA, USA.
Sarah ShultzMarcus Autism Center, Children's Healthcare of Atlanta & Emory University School of Medicine, Atlanta, GA, USA.
Elaine F WalkerDepartment of Psychology, Emory University, Atlanta, GA, USA.
Melissa M MurphyDepartment of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
Jennifer G MulleCenter for Advanced Biotechnology and Medicine, Robert Wood Johnson Medical School, Rutgers University, Piscataway, NJ, USA.

Funding

Neuroimaging of the schizophrenia-associated 3q29 deletionR01MH118534 · NIMH · EMORY UNIVERSITY · PI MULLE, JENNIFER GLADYS, SHULTZ, SARAH · 2019 to 2023
$1.9M
NIMH NIH HHS R01 MH118534
6 · The paper itself

Abstract

background3q29 deletion syndrome (3q29del) is a rare (~1:30 000) genomic disorder associated with a wide array of neurodevelopmental and psychiatric phenotypes. Prior work by our team identified clinically significant executive function (EF) deficits in 47% of individuals with 3q29del; however, the nuances of EF in this population have not been described.

methodsWe used the Behavior Rating Inventory of Executive Function (BRIEF) to perform the first in-depth assessment of real-world EF in a cohort of 32 individuals with 3q29del (62.5% male, mean age = 14.5 ± 8.3 years). All participants were also evaluated with gold-standard neuropsychiatric and cognitive assessments. High-resolution structural magnetic resonance imaging was performed on a subset of participants (

resultsWe found global deficits in EF; individuals with 3q29del scored higher than the population mean on the BRIEF global executive composite (GEC) and all subscales. In total, 81.3% of study subjects (

conclusionsTogether, these data expand our understanding of the phenotypic spectrum of 3q29del and identify EF as a core feature linked to both psychiatric and neuroanatomical features of the syndrome.

Indexed as

3q29 deletionBRIEFcognitioncopy number variantexecutive functionschizophrenia

Identifiers

PMID39365000
PMCPMC11578917

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