A Comprehensive Analysis of Cerebellar Volumes in the 22q11.2 Deletion Syndrome.
22q11.2 deletion syndrome
Cerebellum
Crus I
Genetics
MRI
Psychosis
Schizophrenia
Journal
Biological psychiatry. Cognitive neuroscience and neuroimaging
ISSN: 2451-9030
Titre abrégé: Biol Psychiatry Cogn Neurosci Neuroimaging
Pays: United States
ID NLM: 101671285
Informations de publication
Date de publication:
01 2023
01 2023
Historique:
received:
13
05
2021
revised:
12
10
2021
accepted:
08
11
2021
pmc-release:
01
01
2024
pubmed:
2
12
2021
medline:
11
1
2023
entrez:
1
12
2021
Statut:
ppublish
Résumé
The presence of a 22q11.2 microdeletion (22q11.2 deletion syndrome [22q11DS]) ranks among the greatest known genetic risk factors for the development of psychotic disorders. There is emerging evidence that the cerebellum is important in the pathophysiology of psychosis. However, there is currently limited information on cerebellar neuroanatomy in 22q11DS specifically. High-resolution 3T magnetic resonance imaging was acquired in 79 individuals with 22q11DS and 70 typically developing control subjects (N = 149). Lobar and lobule-level cerebellar volumes were estimated using validated automated segmentation algorithms, and subsequently group differences were compared. Hierarchical clustering, principal component analysis, and graph theoretical models were used to explore intercerebellar relationships. Cerebrocerebellar structural connectivity with cortical thickness was examined via linear regression models. Individuals with 22q11DS had, on average, 17.3% smaller total cerebellar volumes relative to typically developing subjects (p < .0001). The lobules of the superior posterior cerebellum (e.g., VII and VIII) were particularly affected in 22q11DS. However, all cerebellar lobules were significantly smaller, even after adjusting for total brain volumes (all cerebellar lobules p < .0002). The superior posterior lobule was disproportionately associated with cortical thickness in the frontal lobes and cingulate cortex, brain regions known be affected in 22q11DS. Exploratory analyses suggested that the superior posterior lobule, particularly Crus I, may be associated with psychotic symptoms in 22q11DS. The cerebellum is a critical but understudied component of the 22q11DS neuroendophenotype.
Sections du résumé
BACKGROUND
The presence of a 22q11.2 microdeletion (22q11.2 deletion syndrome [22q11DS]) ranks among the greatest known genetic risk factors for the development of psychotic disorders. There is emerging evidence that the cerebellum is important in the pathophysiology of psychosis. However, there is currently limited information on cerebellar neuroanatomy in 22q11DS specifically.
METHODS
High-resolution 3T magnetic resonance imaging was acquired in 79 individuals with 22q11DS and 70 typically developing control subjects (N = 149). Lobar and lobule-level cerebellar volumes were estimated using validated automated segmentation algorithms, and subsequently group differences were compared. Hierarchical clustering, principal component analysis, and graph theoretical models were used to explore intercerebellar relationships. Cerebrocerebellar structural connectivity with cortical thickness was examined via linear regression models.
RESULTS
Individuals with 22q11DS had, on average, 17.3% smaller total cerebellar volumes relative to typically developing subjects (p < .0001). The lobules of the superior posterior cerebellum (e.g., VII and VIII) were particularly affected in 22q11DS. However, all cerebellar lobules were significantly smaller, even after adjusting for total brain volumes (all cerebellar lobules p < .0002). The superior posterior lobule was disproportionately associated with cortical thickness in the frontal lobes and cingulate cortex, brain regions known be affected in 22q11DS. Exploratory analyses suggested that the superior posterior lobule, particularly Crus I, may be associated with psychotic symptoms in 22q11DS.
CONCLUSIONS
The cerebellum is a critical but understudied component of the 22q11DS neuroendophenotype.
Identifiants
pubmed: 34848384
pii: S2451-9022(21)00321-9
doi: 10.1016/j.bpsc.2021.11.008
pmc: PMC9162086
mid: NIHMS1784861
pii:
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
79-90Subventions
Organisme : NIMH NIH HHS
ID : U01 MH087626
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS115776
Pays : United States
Organisme : NIMH NIH HHS
ID : RC2 MH089924
Pays : United States
Organisme : NIDCD NIH HHS
ID : R01 DC012833
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH120174
Pays : United States
Organisme : NIMH NIH HHS
ID : RC2 MH089983
Pays : United States
Organisme : NIA NIH HHS
ID : R56 AG066656
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH097742
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH119185
Pays : United States
Informations de copyright
Copyright © 2021 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.
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