Evidence map›Paper›PMID 40288750›Full record

ArticleBiological psychiatry. Cognitive neuroscience and neuroimaging2026

Presence, Severity, and Functional Associations of Incomplete Hippocampal Inversion in 22q11.2 Deletion Syndrome.

David Roalf, Ally Atkins, Adam Czernuszenko, Margaret K Pecsok, Donna M McDonald-McGinn, J Eric Schmitt, Maxwell J Roeske, Sarah Hopkins, Phoebe Freedman, Aaron Alexander-Bloch and 13 more

Abstract read
In one paragraph

Article in Biological psychiatry. Cognitive neuroscience and neuroimaging, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Charting Brain Structure in 22q11.2 Deletion Syndrome with Clinical Neuroimaging.medRxiv : the preprint server for health sciences · 2026
    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

23 authors.

David RoalfNeurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Lifespan Brain Institute, Penn Medicine and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. Electronic address: roalf@pennmedicine.upenn.edu.
Ally AtkinsNeurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Adam CzernuszenkoNeurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Margaret K PecsokNeurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Donna M McDonald-McGinn22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Division of Human Biology and Medical Genetics, Sapienza University of Rome, Rome, Italy.
J Eric SchmittDepartment of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Maxwell J RoeskeDepartment of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center, Nashville, Tennessee.
Sarah Hopkins22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Phoebe FreedmanNeurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Lifespan Brain Institute, Penn Medicine and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Aaron Alexander-BlochNeurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Lifespan Brain Institute, Penn Medicine and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Jenna SchabdachLifespan Brain Institute, Penn Medicine and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Benjamin JungLifespan Brain Institute, Penn Medicine and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
T Blaine Crowley22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
R Sean GallagherNeurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Lifespan Brain Institute, Penn Medicine and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Daniel E McGinn22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Paul J MobergNeurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Lifespan Brain Institute, Penn Medicine and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Kosha RuparelNeurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Lifespan Brain Institute, Penn Medicine and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Russell T ShinoharaPenn Statistics in Imaging and Visualization Endeavor, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Bruce I TuretskyNeurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Lauren WhiteNeurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Lifespan Brain Institute, Penn Medicine and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Elaine H Zackai22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Ruben C GurNeurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Lifespan Brain Institute, Penn Medicine and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Raquel E GurNeurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Lifespan Brain Institute, Penn Medicine and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Funding

Ultra-high field GluCEST MRI and MRS in youth at risk for psychosisR01MH120174 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI ROALF, DAVID R · 2020 to 2024
$3.8M
Evolution of Psychosis in Youth: Multimodal Risk and Resilience MarkersR01MH119219 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RAQUEL E, GUR, RUBEN C. · 2019 to 2023
$3.8M
Olfactory and facial markers of developmental risk for psychosis in 22q11 deletion syndromeR01MH119185 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI ROALF, DAVID R · 2019 to 2024
$3.5M
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
Creating an adaptive screening tool for detecting neurocognitive deficits and psychopathology across the lifespanR01MH117014 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RUBEN C. · 2019 to 2022
$2.9M
Leveraging Ultra-High Field MRI to Elucidate Glutamatergic Mechanisms of rTMS in DepressionF30MH136690 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI Margaret Kasey Pecsok · 2024 to 2026
$129k
NIMH NIH HHS F30 MH136690NIMH NIH HHS R01 MH117014NIMH NIH HHS R01 MH119185NIMH NIH HHS R01 MH119219NIMH NIH HHS R01 MH120174NIMH NIH HHS U01 MH119738
6 · The paper itself

Abstract

backgroundThe hippocampus is smaller and functionally disrupted in individuals with 22q11.2 deletion syndrome (22q11DS), but the cause remains unclear. During gestational weeks 20 to 30, an inversion in the dentate gyrus and cornu ammonis occurs. This process can go awry, resulting in incomplete hippocampal inversion (IHI). In the general population, IHI is more common in the left hemisphere than the right hemisphere; however, its prevalence, severity, and functional impact in 22q11DS remain unexplored. Investigating IHI in 22q11DS could uncover morphological hippocampal abnormalities linked to neuropsychiatric and neurocognitive symptoms.

methodsUsing 3T structural magnetic resonance imaging data, the presence and severity of IHI were assessed in individuals with 22q11DS (n = 108) and healthy comparison participants (HCs) (n = 633). Total and subregional hippocampal volumes, psychopathology, and hippocampal-based memory were evaluated.

resultsIHI prevalence was significantly higher in individuals with 22q11DS compared with HCs in both the left (63% vs. 30%, p < .001) and right (29% vs. 8%, p < .001) hemispheres. IHI severity was also greater in participants with 22q11DS (p < .001) bilaterally. IHI influenced hippocampal volume differences, with left IHI primarily affecting the head (p < .01) and tail (p < .001) and right IHI affecting only the tail (p < .001). In exploratory analyses within participants with 22q11DS, left IHI presence was linked to poorer face memory (p < .05) but not to psychopathology.

conclusionsThese findings highlight a high prevalence of hippocampal morphological alterations in 22q11DS, which are associated with memory performance. Earlier developmental and longitudinal studies are needed to clarify the role of IHI in 22q11DS sequelae.

Indexed as

DiGeorge SyndromeHippocampusMemoryAdolescentAdultCase-Control StudiesChildFemaleHumansMagnetic Resonance ImagingMaleMental DisordersMiddle AgedSeverity of Illness IndexYoung Adult22q11.2 deletion syndromeHippocampusMemoryPsychopathologyStructural MRI

Identifiers

PMID40288750
PMCPMC13676297

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