ArticleJournal of neurodevelopmental disorders2015
Structural and functional connectivity in the default mode network in 22q11.2 deletion syndrome.
Article in Journal of neurodevelopmental disorders, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 54 citations in OpenAlex.
- Disentangling Psychopathology and Social Cognition in 22q11.2 Deletion Syndrome with Psychotic Symptoms and Schizophrenia.Schizophrenia bulletin open · 2026Article
- Unique Functional Neuroimaging Signatures of Genetic Versus Clinical High Risk for Psychosis.Biological psychiatry · 2025Article
- Robust and replicable functional brain signatures of 22q11.2 deletion syndrome and associated psychosis: a deep neural network-based multi-cohort study.Molecular psychiatry · 2024Article
- Thalamic contributions to psychosis susceptibility: Evidence from co-activation patterns accounting for intra-seed spatial variability (μCAPs).Human brain mapping · 2024Article
- Atypical cortical networks in children at high-genetic risk of psychiatric and neurodevelopmental disorders.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2024Article
- Structural Connectivity and Emotion Recognition Impairment in Children and Adolescents with Chromosome 22q11.2 Deletion Syndrome.Journal of autism and developmental disorders · 2023Article
- Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome.International journal of molecular sciences · 2023Review
- Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing.Molecular psychiatry · 2022Article
- Resting-State Functional Connectivity and Psychopathology in Klinefelter Syndrome (47, XXY).Cerebral cortex (New York, N.Y. : 1991) · 2021Article
- Structural control energy of resting-state functional brain states reveals less cost-effective brain dynamics in psychosis vulnerability.Human brain mapping · 2021Article
- Neuroimaging Phenotypes Associated With Risk and Resilience for Psychosis and Autism Spectrum Disorders in 22q11.2 Microdeletion Syndrome.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2021Review
- Identifying neurodevelopmental anomalies of white matter microstructure associated with high risk for psychosis in 22q11.2DS.Translational psychiatry · 2020Article
- Mutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia.Nature communications · 2020Article
- Electrophysiological network alterations in adults with copy number variants associated with high neurodevelopmental risk.Translational psychiatry · 2020Article
- Neurobiological perspective of 22q11.2 deletion syndrome.The lancet. Psychiatry · 2019Review
- Mitochondrial Dysfunction Leads to Cortical Under-Connectivity and Cognitive Impairment.Neuron · 2019Article
- Dissociable Disruptions in Thalamic and Hippocampal Resting-State Functional Connectivity in Youth with 22q11.2 Deletions.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
- Neural correlates of socio-emotional perception in 22q11.2 deletion syndrome.Journal of neurodevelopmental disorders · 2018Article
- Frontal dysconnectivity in 22q11.2 deletion syndrome: an atlas-based functional connectivity analysis.Behavioral and brain functions : BBF · 2018Article
- White matter microstructural deficits in 22q11.2 deletion syndrome.Psychiatry research. Neuroimaging · 2017Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
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Abstract
backgroundThe neural endophenotype associated with 22q11.2 deletion syndrome (22q11DS) includes deviant cortical development and alterations in brain connectivity. Resting-state functional magnetic resonance imaging (fMRI) findings also reported disconnectivity within the default mode network (DMN). In this study, we explored the relationship between functional and structural DMN connectivity and their changes with age in patients with 22q11DS in comparison to control participants. Given previous evidence of an association between DMN disconnectivity and the manifestation of psychotic symptoms, we further investigated this relationship in our group of patients with 22q11DS.
methodsT1-weighted, diffusion, and resting-state fMRI scans were acquired from 41 patients with 22q11DS and 43 control participants aged 6 to 28 years. A data-driven approach based on independent component analysis (ICA) was used to identify the DMN and to define regions of interest for the structural and functional connectivity analysis. Prodromal psychotic symptoms were assessed in adolescents and adults using the positive symptom scores of the Structured Interview of Prodromal Syndromes (SIPS). Connectivity measures were compared between groups and correlated with age. Repeating the between-group analysis in three different age bins further assessed the presence of age-related alterations in DMN connectivity. Structural and functional connectivity measures were then correlated with the SIPS scores.
resultsA simultaneous reduction of functional and structural connectivity between core medial nodes of the DMN was observed. Furthermore, structural connectivity measures significantly increased with age in the control group but not in patients with 22q11DS, suggesting the presence of an age-related alteration of the DMN structural connections. No correlations were found between the DMN disconnectivity and expression of prodromal symptoms in 22q11DS.
conclusionsThese findings indicate the presence of functional and structural DMN disconnectivity in 22q11DS and that patients with 22q11DS fail to develop normal structural connections between medial DMN nodes. This suggests the presence of altered neurodevelopmental trajectories in 22q11DS.
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