ArticleBehavioral and brain functions : BBF2012
Atlas-based white matter analysis in individuals with velo-cardio-facial syndrome (22q11.2 deletion syndrome) and unaffected siblings.
Article in Behavioral and brain functions : BBF, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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32 citing papers in PubMed, 49 citations in OpenAlex.
- Interpretable ROI Identification in Brain Image Analysis: Overcoming CNN Black Box Challenges With Kriging-Enhanced Adaptive Sampling.Statistics in medicine · 2026Article
- Relationship Between Food Selectivity and Mood Problems in Youth With a Reported Diagnosis of Autism Spectrum Disorder.Biological psychiatry global open science · 2025Article
- Smartphone app for lifestyle improvement improves brain health and boosts the vitality and cognitive function of healthy middle-aged adults.Brain and behavior · 2024Article
- Structural Connectivity and Emotion Recognition Impairment in Children and Adolescents with Chromosome 22q11.2 Deletion Syndrome.Journal of autism and developmental disorders · 2023Article
- A cross-comparison of cognitive ability across 8 genomic disorders.Current opinion in genetics & development · 2021Review
- Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study.Molecular psychiatry · 2020Article
- Abnormalities in white matter tracts in the fronto-striatal-thalamic circuit are associated with verbal performance in 22q11.2DS.Schizophrenia research · 2020Article
- White matter pathways and social cognition.Neuroscience and biobehavioral reviews · 2018Review
- 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
- Abnormalities in brain white matter in adolescents with 22q11.2 deletion syndrome and psychotic symptoms.Brain imaging and behavior · 2017Article
- Multimodal investigation of triple network connectivity in patients with 22q11DS and association with executive functions.Human brain mapping · 2017Article
- Longitudinal study of cerebral surface morphology in youth with 22q11.2 deletion syndrome, and association with positive symptoms of psychosis.Journal of child psychology and psychiatry, and allied disciplines · 2017Article
- The social brain network in 22q11.2 deletion syndrome: a diffusion tensor imaging study.Behavioral and brain functions : BBF · 2017Article
- Frontal Hypoactivation During a Working Memory Task in Children With 22q11 Deletion Syndrome.Journal of child neurology · 2017Article
- Quantifying indices of short- and long-range white matter connectivity at each cortical vertex.PloS one · 2017Article
- Machine-learning classification of 22q11.2 deletion syndrome: A diffusion tensor imaging study.NeuroImage. Clinical · 2017Article
- Long-range dysconnectivity in frontal and midline structures is associated to psychosis in 22q11.2 deletion syndrome.Journal of neural transmission (Vienna, Austria : 1996) · 2016Review
- Diffusion tensor imaging in children with tuberous sclerosis complex: tract-based spatial statistics assessment of brain microstructural changes.Pediatric radiology · 2016Article
- Visual memory profile in 22q11.2 microdeletion syndrome: are there differences in performance and neurobiological substrates between tasks linked to ventral and dorsal visual brain structures? A cross-sectional and longitudinal study.Journal of neurodevelopmental disorders · 2016Article
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Abstract
backgroundVelo-cardio-facial syndrome (VCFS, MIM#192430, 22q11.2 Deletion Syndrome) is a genetic disorder caused by a deletion of about 40 genes at the q11.2 band of one copy of chromosome 22. Individuals with VCFS present with deficits in cognition and social functioning, high risk of psychiatric disorders, volumetric reductions in gray and white matter (WM) and some alterations of the WM microstructure. The goal of the current study was to characterize the WM microstructural differences in individuals with VCFS and unaffected siblings, and the correlation of WM microstructure with neuropsychological performance. We hypothesized that individuals with VCFS would have decreased indices of WM microstructure (fractional anisotropy (FA), axial diffusivity (AD) and radial diffusivity (RD)), particularly in WM tracts to the frontal lobe, and that these measures would be correlated with cognitive functioning.
methodsThirty-three individuals with VCFS (21 female) and 16 unaffected siblings (8 female) participated in DTI scanning and neuropsychological testing. We performed an atlas-based analysis, extracted FA, AD, and RD measures for 54 WM tracts (27 in each hemisphere) for each participant, and used MANOVAs to compare individuals with VCFS to siblings. For WM tracts that were statistically significantly different between VCFS and siblings (pFDR <0.05), we assessed the correlations between DTI and neuropsychological measures.
resultsIn VCFS individuals as compared to unaffected siblings, we found decreased FA in the uncinate fasciculus, and decreased AD in multiple WM tracts (bilateral superior and posterior corona radiata, dorsal cingulum, inferior fronto-occipital fasciculus, superior longitudinal fasciculus, superior cerebellar peduncle, posterior thalamic radiation, and left anterior corona radiata, retrolenticular part of the internal capsule, external capsule, sagittal stratum). We also found significant correlations of AD with measures of executive function, IQ, working memory, and/or social cognition.
conclusionsOur results suggest that individuals with VCFS display abnormal WM connectivity in a widespread cerebro-anatomical network, involving tracts from/to all cerebral lobes and the cerebellum. Future studies could focus on the WM developmental trajectory in VCFS, the association of WM alterations with psychiatric disorders, and the effects of candidate 22q11.2 genes on WM anomalies.
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