ReviewNeuropsychiatric disease and treatment2013
22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis.
Review in Neuropsychiatric disease and treatment, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 46 citations in OpenAlex.
- Precision medicine in mental health: applications, challenges, and recommendations.European psychiatry : the journal of the Association of European Psychiatrists · 2026Review
- How copy number variations shape brain developmental disorders: Unraveling the synaptic puzzle.Psychiatry and clinical neurosciences · 2026Review
- Parental Education Predicts Longitudinal IQ Trajectories in 22q11.2 Deletion Syndrome: A Three-Cohort European Study.Journal of intellectual disability research : JIDR · 2025Article
- A Paradigmatic Case of Genetic Overlap Between Neurodevelopment Disorders and Schizophrenia Aligning with the Neurodevelopmental Continuum Hypothesis.International journal of molecular sciences · 2025Article
- The acoustic startle response in 22q11 deletion syndrome: from animal models to humans.Frontiers in neuroscience · 2025Review
- Speech Sounds Production, Narrative Skills, and Verbal Memory of Children with 22q11.2 Microdeletion.Children (Basel, Switzerland) · 2024Article
- Thalamocortical organoids enable in vitro modeling of 22q11.2 microdeletion associated with neuropsychiatric disorders.Cell stem cell · 2024Article
- Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer.Journal of personalized medicine · 2021Article
- Identifying of 22q11.2 variations in Chinese patients with development delay.BMC medical genomics · 2021Article
- Metabolic Parameters in Patients with Prader-Willi Syndrome and DiGeorge Syndrome with Respect to Psychopathological Manifestation.Neuropsychiatric disease and treatment · 2020Article
- Dendritic Spine Plasticity: Function and Mechanisms.Frontiers in synaptic neuroscience · 2020Article
- 22q11.2 Deletion Syndrome Is Associated With Impaired Auditory Steady-State Gamma Response.Schizophrenia bulletin · 2018Article
- [Diagnosis of 22q11.2 deletion syndrome in the context of newly developed psychosis].Neuropsychiatrie : Klinik, Diagnostik, Therapie und Rehabilitation : Organ der Gesellschaft Osterreichischer Nervenarzte und Psychiater · 2016Article
- The Genetics of Stress-Related Disorders: PTSD, Depression, and Anxiety Disorders.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2016Review
- Developmental trajectories of executive functions in 22q11.2 deletion syndrome.Journal of neurodevelopmental disorders · 2016Article
- The Danish 22q11 research initiative.BMC psychiatry · 2015Article
- Genetic studies of schizophrenia: an update.Neuroscience bulletin · 2015Review
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The 22q11.2 deletion syndrome (22q11DS) is caused by an autosomal dominant microdeletion of chromosome 22 at the long arm (q) 11.2 band. The 22q11DS is among the most clinically variable syndromes, with more than 180 features related with the deletion, and is associated with an increased risk of psychiatric disorders, accounting for up to 1%-2% of schizophrenia cases. In recent years, several genes located on chromosome 22q11 have been linked to schizophrenia, including those encoding catechol-O-methyltransferase and proline dehydrogenase, and the interaction between these and other candidate genes in the deleted region is an important area of research. It has been suggested that haploinsufficiency of some genes within the 22q11.2 region may contribute to the characteristic psychiatric phenotype and cognitive functioning of schizophrenia. Moreover, an extensive literature on neuroimaging shows reductions of the volumes of both gray and white matter, and these findings suggest that this reduction may be predictive of increased risk of prodromal psychotic symptoms in 22q11DS patients. Experimental and standardized cognitive assessments alongside neuroimaging may be important to identify one or more endophenotypes of schizophrenia, as well as a predictive prodrome that can be preventively treated during childhood and adolescence. In this review, we summarize recent data about the 22q11DS, in particular those addressing the neuropsychiatric and cognitive phenotypes associated with the deletion, underlining the recent advances in the studies about the genetic architecture of the syndrome.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.