Evidence map›Paper›PMID 39731884›Full record

ArticlePsychiatry research2025

Sleep difficulties related to psychopathology and neurocognition in people with 22q11.2 deletion syndrome.

Margaret C Souders, Donna M McDonald-McGinn, Kosha Ruparel, Tyler M Moore, Sunny X Tang, Monica E Calkins, Elaine H Zackai, Ruben C Gur, Beverly S Emanuel, Raquel E Gur

Abstract read
In one paragraph

Article in Psychiatry research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

10 authors.

Margaret C SoudersDepartment of Child and Adolescent Psychiatry, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Brain Behavior Laboratory, Neuropsychiatry Section, Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA; University of Pennsylvania, School of Nursing, USA.
Donna M McDonald-McGinn22q and You Center, Clinical Genetics Center, and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Kosha RuparelBrain Behavior Laboratory, Neuropsychiatry Section, Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA.
Tyler M MooreBrain Behavior Laboratory, Neuropsychiatry Section, Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA.
Sunny X TangBrain Behavior Laboratory, Neuropsychiatry Section, Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA; Feinstein Institutes for Medical Research / Zucker Hillside Hospital Glen Oaks, NY 11004, USA.
Monica E CalkinsBrain Behavior Laboratory, Neuropsychiatry Section, Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA.
Elaine H Zackai22q and You Center, Clinical Genetics Center, and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Ruben C GurBrain Behavior Laboratory, Neuropsychiatry Section, Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA.
Beverly S Emanuel22q and You Center, Clinical Genetics Center, and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Raquel E GurDepartment of Child and Adolescent Psychiatry, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Brain Behavior Laboratory, Neuropsychiatry Section, Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: raquel@pennmedicine.upenn.edu.

Funding

Penn Mental Health AIDS Research CenterP30MH097488 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI Karine Dube, Kelly L Jordan-Sciutto · 2013 to 2026
$23.5M
1/2-Brain-Behavior and Genetic Studies of the 22q11DSU01MH087626 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RAQUEL E · 2010 to 2014
$6.5M
2/2 Brain, Behavior and Genetic Studies of the 22q11 Deletion StudiesU01MH087636 · NIMH · CHILDREN'S HOSP OF PHILADELPHIA · PI EMANUEL, BEVERLY S · 2010 to 2014
$4.6M
1/9: Dissecting the effects of genomic variants on nenriched for neuropsychiatric disorderseurobehavioral dimensions in CNVs U01MH119738 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RAQUEL E · 2019 to 2023
$3.2M
1/2: Neurodevelopmental Trajectories in 22q11.2 Deletion Syndrome in Adolescence and Young AdulthoodR01MH134969 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI Raquel E Gur · 2024 to 2026
$2.5M
2/9: Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders.U01MH119737 · NIMH · CHILDREN'S HOSP OF PHILADELPHIA · PI MCDONALD-MCGINN, DONNA MARIE · 2019 to 2023
$2.4M
2/2 - Neurodevelopmental Trajectories in 22q11.2 Deletion Syndrome in Adolescence and Young AdulthoodR01MH134965 · NIMH · CHILDREN'S HOSP OF PHILADELPHIA · PI Donna Marie McDonald-McGinn · 2024 to 2026
$1.4M
NIMH NIH HHS P30 MH097488NIMH NIH HHS R01 MH134965NIMH NIH HHS R01 MH134969NIMH NIH HHS U01 MH087626NIMH NIH HHS U01 MH087636NIMH NIH HHS U01 MH119737NIMH NIH HHS U01 MH119738
6 · The paper itself

Abstract

The 22q11.2 Deletion Syndrome (22q11.2DS) is a multisystem genetic disorder with prominent sleep disturbances, neuropsychiatric conditions and neurocognitive challenges. Poor sleep can impact cognitive development, psychopathology and daily functioning. An integrative approach in clinical settings can help link these manifestations and suggest interventions. A comprehensive sleep interview was conducted with 100 affected individuals and their parents, complemented with electronic health record review. Independent psychiatric and neurocognitive assessments were conducted in 92 participants, divided into Good Sleeper (score 1-4) and Poor Sleeper (score ≥ 5) groups based on the Pittsburgh Sleep Quality Index (PSQI). Sleep disorders were common, 78% of participants met International Classification of Sleep Disorders criteria. Most prevalent were Insomnia, Sleep Disorder Breathing, Delayed Sleep Phase Disorder and Restless Leg Syndrome. 74% of participants met criteria for at least one current psychiatric disorder. Poor Sleepers had lower Global Assessment of Function (GAF), higher severity of psychosis positive, negative, and general symptoms, and lower performance efficiency on executive, spatial memory, complex cognition and social cognition tests. Mediation models showed that association of psychosis scores and GAF were mediated by PSQI and the association between PSQI and GAF was mediated by psychosis scores. Sleep disorders are prevalent in individuals with 22q11.2DS and impact psychiatric manifestation and neurocognitive performance. Results suggest a possible "vicious cycle " whereby disordered sleep is associated with increased psychosis which, in turn, results in worsening sleep, all affecting GAF. Identification of sleep disorders can facilitate appropriate interventions reducing burden of psychiatric symptoms and improving cognition and functioning.

Indexed as

Cognitive DysfunctionDiGeorge SyndromePsychotic DisordersSleep Wake DisordersAdolescentAdultFemaleHumansMaleMiddle AgedNeuropsychological TestsYoung Adult22q11.2 deletion syndromeNeurocognitionPsychopathologyPsychosisSleep

Identifiers

PMID39731884
PMCPMC12045156

What OpenQuestion holds

Textmetadata
LicenceTDM
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.