Hippocampal volume reduction in 22q11.2 deletion syndrome

Debbané, Martin; Schaer, Marie; Farhoumand, Riaz; Glaser, Bronwyn; Eliez, Stephan

doi:10.1016/j.neuropsychologia.2006.05.006

Cited by 69Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatmentMemory and Neural Mechanisms

Hippocampal volume reduction in 22q11.2 deletion syndrome

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Debbané, Martin, Schaer, Marie, Farhoumand, Riaz, Glaser, Bronwyn, Eliez, Stephan·2006·Neuropsychologia

DOI 10.1016/j.neuropsychologia.2006.05.006

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Abstract

Hippocampal volume reduction and decreased memory skills form a characteristic neurofunctional alteration observed in schizophrenia. Individuals affected with 22q11.2 deletion syndrome (22q11DS), while exhibiting memory deficits throughout development, are also at high risk for developing schizophrenia. The present study sought to investigate hippocampal volume reduction as separate of global grey matter reduction in a large, independent sample of individuals with 22q11DS. Volumetric data from structural magnetic resonance imaging was obtained for 43 individuals affected with 22q11DS, aged 6-39 years of age, as well as for 40 healthy individuals matched for age and gender. Drawing of the amygdala was included to enhance the delineation of the hippocampus, and circumscription of both the amygdala and the hippocampus were executed using an increased resolution matrix. After controlling for total grey volume reductions observed in affected individuals, a significant decrease in hippocampus volume was observed in the 22q11DS group, driven by significant bilateral volumetric reduction of the body of the hippocampus. These results are discussed in reference to memory and cerebral alterations already reported in 22q11DS. Further, the specific implications of hippocampus body volume reduction are outlined in light of its anatomical relationships and its function in memory. Finally, reduction of hippocampal volume in 22q11DS is examined in the context of psychiatric risk status associated to the deletion.

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Imaging studies in 22q11.2 syndrome have revealed smaller brain volume, decreased cortical thickness in the superior parietal, right parietooccipital and inferior frontal gyrus, heterotopias and fewer gyri, and reduced volume in the hippocampus, cerebellum and amygdala, some of which varies based on the presence of schizophrenia or cognitive deficits.
“Imaging studies in 22q11.2 syndrome have revealed smaller brain volume [361], decreased cortical thickness in the superior parietal, right parietooccipital and inferior frontal gyrus, heterotopias and fewer gyri [27, 193, 314], and reduced volume in the hippocampus [84, 85], cerebellum [49] and amygdala [85], some of which varies based on the presence of schizophrenia or cognitive deficits [20, 31”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [84]

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Long-term verbal memory deficit and associated hippocampal alterations in 22q11.2 deletion syndrome
Maeder, J., Sandini, C., Zöller, D., Schneider, M., Bostelmann, M., Pouillard, V., Caroni, P., Kliegel, M., & Eliez, S. (2019) · Child Neuropsychology · doi:10.1080/09297049.2019.1657392 · Cited by 15 · see citing works

Authors: Debbané, M., Schaer, M., Farhoumand, R., Glaser, B., & Eliez, S.
Affiliations: University of Geneva (CH)
Corresponding author: Debbané, Martin
ORCID: Debbané, Martin
Schaer, Marie
Venue: Neuropsychologia
Publisher: Elsevier BV
Published: 2006-01
Volume: 44
Issue: 12
Pages: 2360-2365
ISSN: 0028-3932 (ISSN-L)
DOI: 10.1016/j.neuropsychologia.2006.05.006
OpenAlex: W2001977453
Cited by: 69
References: 64
Citations by year: 2026: 1 · 2025: 3 · 2024: 2 · 2023: 1 · 2022: 3 · 2021: 1 · 2020: 1 · 2019: 5 · 2018: 2 · 2017: 2 · 2016: 2 · 2015: 3 · 2014: 3 · 2013: 4 · 2012: 3
FWCI: 3.22
Type: journal article
Language: en
Open access: green
infoscience.epfl.ch
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Neuropsychologia (publishedVersion)
PubMed (publishedVersion)
Archive ouverte UNIGE (University of Geneva) (publishedVersion)
UCL Discovery (University College London) (submittedVersion)
Infoscience (Ecole Polytechnique Fédérale de Lausanne) (submittedVersion)
Infoscience (Ecole Polytechnique Fédérale de Lausanne) (submittedVersion, cc-by-nc-nd)
Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
Life Sciences › Neuroscience › Cognitive Neuroscience › Memory and Neural Mechanisms
Keywords: 22q11.2 deletion syndrome, hippocampal volume, gray matter reduction, memory impairment, schizophrenia risk, brain structure, brain development
MeSH terms: Adolescent, Adult, Child, Chromosome Deletion, Chromosomes, Human, Pair 22, Female, Hippocampus, Humans, Intelligence Tests, Magnetic Resonance Imaging, Male, Schizophrenia, Multivariate Analysis, Case-Control Studies, Chromosome Disorders

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Hippocampal volume reduction in 22q11.2 deletion syndrome

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