SynthesisMolecular psychiatry2020
Magnitude and heterogeneity of brain structural abnormalities in 22q11.2 deletion syndrome: a meta-analysis.
Synthesis in Molecular psychiatry, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 65 citations in OpenAlex.
- Examining the variability of neurocognitive functioning in individuals at clinical high risk for psychosis: a meta-analysis.Translational psychiatry · 2022Pooled it
- Convergent and Divergent Cerebellar Alterations in 22q11.2 Copy Number Variants.Biological psychiatry global open science · 2026Article
- Hippocampal transcriptome profiling in a 22q11.2 deletion syndrome mouse model: comparison with human schizophrenia.Molecular brain · 2026Article
- Interhemispheric CA1 projections to the subiculum support spatial cognition and are affected in a mouse model of the 22q11.2 deletion syndrome.Cell reports · 2026Article
- Assessment of Brain Morphological Abnormalities and Neurodevelopmental Risk Copy Number Variants in Individuals from the UK Biobank.International journal of molecular sciences · 2025Article
- Combining phenomics with transcriptomics reveals cell-type-specific morphological and molecular signatures of the 22q11.2 deletion.Nature communications · 2025Article
- Differential gene expression study in whole blood identifies candidate genes for psychosis in African American individuals.Schizophrenia research · 2025Article
- Mapping Cerebellar Morphology in 15q11.2 CNV Carriers Using Normative Modeling.medRxiv : the preprint server for health sciences · 2025Article
- Verbal narrative ability and episodic autobiographical memory in adolescents and young adults with 22q11.2 deletion syndrome.Journal of neurodevelopmental disorders · 2025Article
- Sensory Processing Challenges in Children with Neurodevelopmental Disorders and Genetic Conditions: An Observational Study.NeuroSci · 2024Article
- Review
- In vivo evidence of microstructural hypo-connectivity of brain white matter in 22q11.2 deletion syndrome.Molecular psychiatry · 2023Article
- Mitochondrial proteins encoded by the 22q11.2 neurodevelopmental locus regulate neural stem and progenitor cell proliferation.Molecular psychiatry · 2023Article
- Structural alterations in the amygdala and impaired social incentive learning in a mouse model of a genetic variant associated with neurodevelopmental disorders.Research square · 2023Article
- Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence.Nature human behaviour · 2023Article
- Article
- Mitochondrial genes in the 22q11.2 deleted region regulate neural stem and progenitor cell proliferation.bioRxiv : the preprint server for biology · 2023Article
- A Comprehensive Analysis of Cerebellar Volumes in the 22q11.2 Deletion Syndrome.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2023Article
- Neuroimaging in schizophrenia: an overview of findings and their implications for synaptic changes.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2023Review
- Longitudinal trajectories of cortical development in 22q11.2 copy number variants and typically developing controls.Molecular psychiatry · 2022Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
The 22q11.2 deletion syndrome (22q11.2DS) is a neurodevelopmental disorder associated with a number of volumetric brain abnormalities. The syndrome is also associated with an increased risk for neuropsychiatric disorders including schizophrenia and autism spectrum disorder. An earlier meta-analysis showed reduced grey and white matter volumes in individuals with 22q11.2DS. Since this analysis was conducted, the number of studies has increased markedly, permitting more precise estimates of effects and more regions to be examined. Although 22q11.2DS is clinically heterogeneous, it is not known to what extent this heterogeneity is mirrored in neuroanatomy. The aim of this study was thus to investigate differences in mean brain volume and structural variability within regions, between 22q11.2DS and typically developing controls. We examined studies that reported measures of brain volume using MRI in PubMed, Web of Science, Scopus and PsycINFO from inception to 1 May 2019. Data were extracted from studies in order to calculate effect sizes representing case-control difference in mean volume, and in the variability of volume (as measured using the log variability ratio (lnVR) and coefficient of variation ratio (CVR)). We found significant overall decreases in mean volume in 22q11.2DS compared with control for: total brain (g = -0.96; p < 0.001); total grey matter (g = -0.81, p < 0.001); and total white matter (g = -0.81; p < 0.001). There was also a significant overall reduction of mean volume in 22q11.2DS subjects compared with controls in frontal lobe (g = -0.47; p < 0.001), temporal lobe (g = -0.84; p < 0.001), parietal lobe (g = -0.73; p = 0.053), cerebellum (g = -1.25; p < 0.001) and hippocampus (g = -0.90; p < 0.001). Significantly increased variability in 22q11.2DS individuals compared with controls was found only for the hippocampus (VR, 1.14; p = 0.036; CVR, 1.30; p < 0.001), and lateral ventricles (VR, 1.56; p = 0.004). The results support the notion that structural abnormalities in 22q11.2DS and schizophrenia are convergent, and also to some degree with findings in autism spectrum disorder. Finally, the increased variability seen in the hippocampus in 22q11.2DS may underlie some of the heterogeneity observed in the neuropsychiatric phenotype.
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Registered trials
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