Background: A genetic syndrome associated with schizophrenia, 22q11 deletion syndrome (22qDS), may represent a genetic subtype of schizophrenia (22qDS-Sz). Structural brain changes are common in schizophrenia and may involve developmental anomalies, but there are no data yet for 22qDS-Sz. The objective of this study was to assess brain structure in adults with 22qDS-Sz using magnetic resonance imaging (MRI).
Methods: Brain and arterial MRI scans of 11 adults with 22qDS-Sz (mean age = 28.4 years, SD = 6.5) were systematically assessed by a neuroradiologist for qualitative anomalies.
Results: A high frequency of abnormalities were found: T2 white matter bright foci (BF), 90%; developmental midline anomalies, 45%; cerebral atrophy or ventricular enlargement, 54%; mild cerebellar atrophy, 36%; skull base abnormalities, 55%; and minor vascular abnormalities, 36%.
Conclusions: BF and skull base abnormalities, especially in association with neurodevelopmental midline abnormalities, may be distinguishing MRI features for a genetic subtype of schizophrenia involving a deletion on chromosome 22.
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http://dx.doi.org/10.1016/s0006-3223(99)00150-x | DOI Listing |
Genes (Basel)
January 2025
Section of Cytogenetics, Oncology Department, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, Italy.
22q11.2 is a region prone to chromosomal rearrangements due to the presence of eight large blocks of low-copy repeats (LCR22s). The 3 Mb 22q11.
View Article and Find Full Text PDFBehav Sci (Basel)
December 2024
School of Psychology, University of Roehampton, London SW15 4JD, UK.
Children and young people (CYP) with special educational needs and disabilities (SEND) comprise over 1.6 million pupils in classrooms in England. However, evidence suggests pupils' learning and wellbeing needs are often missed or unmet and legislation designed to increase families' decision-making in education provision has not been translated into practice.
View Article and Find Full Text PDFBrain Sci
December 2024
Faculty of Biomedical Engineering, Department of Medical Informatics and Aritificial Intelligence, Silesian University of Technology, Roosevelta 40, 41-800 Zabrze, Poland.
Background/objectives: 22q11.2 microdeletion syndrome (22q11DS) is a genetic disease caused by aberration of chromosome 22 that results in some phenotypic features and developmental disorders. This paper presents a cross-sectional study on speech and communication of Polish children with 22q11DS.
View Article and Find Full Text PDFA 1.5 to 3 Mb microdeletion of chromosome 22q11.2 with loss of multiple genes including histone cell cycle regulator (HIRA) causes 22q11.
View Article and Find Full Text PDFJ Med Genet
January 2025
Developmental Biology and Cancer, UCL GOS Institute of Child Health, London, UK
In 1997, the published our paper on the spectrum of clinical features associated with interstitial chromosome 22q11 deletions. This copy number variation is associated with an extraordinary range of clinical features, which led initially to its association with several diagnostic labels. Since 1997 work on clinical and basic science aspects of the syndrome and the genes reduced to hemizygosity have provided a wealth of information pertaining to both best practice care and underlying biology.
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