ArticleBiological psychiatry. Cognitive neuroscience and neuroimaging2023
A Comprehensive Analysis of Cerebellar Volumes in the 22q11.2 Deletion Syndrome.
Article in Biological psychiatry. Cognitive neuroscience and neuroimaging, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 17 citations in OpenAlex.
- Convergent and Divergent Cerebellar Alterations in 22q11.2 Copy Number Variants.Biological psychiatry global open science · 2026Article
- Charting Brain Structure in 22q11.2 Deletion Syndrome with Clinical Neuroimaging.medRxiv : the preprint server for health sciences · 2026Article
- The Genetics of Cerebellar Structure and Associations With Cognitive Performance: A Twin Magnetic Resonance Imaging Study.Human brain mapping · 2025Article
- Review: Child Psychiatry in the Era of Genomics: The Promise of Translational Genetics Research for the Clinic.JAACAP open · 2025Review
- Mapping Cerebellar Morphology in 15q11.2 CNV Carriers Using Normative Modeling.medRxiv : the preprint server for health sciences · 2025Article
- Highly demarcated structural alterations in the brain and impaired social incentive learning in Tbx1 heterozygous mice.Molecular psychiatry · 2025Article
- First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende-Gupta and 22q11.2 Deletion Syndromes.Molecular genetics & genomic medicine · 2025Article
- Article
- Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome.Nature communications · 2024Article
- Structural deviations of the posterior fossa and the cerebellum and their cognitive links in a neurodevelopmental deletion syndrome.Molecular psychiatry · 2024Article
- Review
- Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome.Human brain mapping · 2024Article
- Structural Cerebellar Abnormalities and Parkinsonism in Patients with 22q11.2 Deletion Syndrome.Brain sciences · 2022Article
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Authors and funding
17 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundThe 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.
methodsHigh-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.
resultsIndividuals 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.
conclusionsThe cerebellum is a critical but understudied component of the 22q11DS neuroendophenotype.
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