ReviewAmerican journal of medical genetics. Part A2018
Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome.
Review in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
33 citing papers in PubMed, 3 syntheses or guidelines pooled it, 72 citations in OpenAlex.
- Autism spectrum disorder and schizophrenia: An updated conceptual review.Autism research : official journal of the International Society for Autism Research · 2022Pooled it
- Social cognition in individuals with 22q11.2 deletion syndrome and its link with psychopathology and social outcomes: a review.BMC psychiatry · 2021Pooled it
- Magnitude and heterogeneity of brain structural abnormalities in 22q11.2 deletion syndrome: a meta-analysis.Molecular psychiatry · 2020Pooled it
- Neurocognitive and Socio-Emotional Profile of Children with 22q11.2 Deletion Syndrome: Executive Functions, Social Processing Deficits and Clinical Implications.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2026Review
- The Concept of Autism in Autism Spectrum Disorder and Schizophrenia Spectrum Disorder: Historical Divergence and Phenomenological Rapprochement.Journal of the Korean Academy of Child and Adolescent Psychiatry · 2026Review
- Article
- Phonemic-Phonological Profile of People with 22q11.2 Deletion Syndrome: A Pilot Study.Brain sciences · 2025Article
- A comprehensive overview of neuropsychiatric symptoms in adolescents with 22q11.2 deletion syndrome.Journal of intellectual disability research : JIDR · 2025Article
- Large-Scale Neuroimaging of Mental Illness.Current topics in behavioral neurosciences · 2024Review
- A case study of the utilization of clozapine treatment for treatment-resistant schizophrenia associated with 22q11.2 deletion syndrome.Neuropsychopharmacology reports · 2023Article
- Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects.Journal of neurodevelopmental disorders · 2023Article
- The contribution of copy number variants to psychiatric symptoms and cognitive ability.Molecular psychiatry · 2023Review
- Resilience and quality of life in young adults with a 22q11.2 deletion syndrome: a patient's perspective.European child & adolescent psychiatry · 2022Article
- Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology.The American journal of psychiatry · 2022Review
- Utility of Measuring Fetal Cavum Septum Pellucidum (CSP) Width During Routine Obstetrical Ultrasound for Improving Diagnosis of 22q11.2 Deletion Syndrome: A Case-Control Study.The application of clinical genetics · 2022Article
- Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report.Annals of the New York Academy of Sciences · 2021Review
- Psychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment-A Case Report.International journal of environmental research and public health · 2021Article
- Ethical issues in genomics research on neurodevelopmental disorders: a critical interpretive review.Human genomics · 2021Review
- Psychological Adjustment of Children and Adolescents with 22q11.2 Deletion Syndrome and Their Mothers' Stress and Coping-A Longitudinal Study.International journal of environmental research and public health · 2021Article
- Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome.Current psychiatry reports · 2021Review
Corrections and comments
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Authors and funding
11 authors at 8 institutions in 9 countries.
Funding
Abstract
The purpose of this article is to provide an overview of current insights into the neurodevelopmental and psychiatric manifestations of 22q11.2 deletion syndrome (22q11DS) in children and adolescents. The pediatric neuropsychiatric expression of 22q11DS is characterized by high variability, both interindividual and intraindividual (different expressions over the lifespan). Besides varying levels of intellectual disability, the prevalence of autism spectrum disorders, attention deficit disorders, anxiety disorders, and psychotic disorders in young individuals with 22q11DS is significantly higher than in the general population, or in individuals with idiopathic intellectual disability. Possible explanations for this observed phenotypic variability will be discussed, including genetic pleiotropy, gene-environment interactions, the age-dependency of phenotypes, but also the impact of assessment and ascertainment bias as well as the limitations of our current diagnostic classification system. The implications inferred by these observations aforementioned bear direct relevance to both scientists and clinicians. Observations regarding the neuropsychiatric manifestations in individuals with 22q11DS exemplify the need for a dimensional approach to neuropsychiatric assessment, in addition to our current categorical diagnostic classification system. The potential usefulness of 22q11DS as a genetic model to study the early phases of schizophrenia as well as the phenomenon of neuropsychiatric pleiotropy observed in many CNV's will be delineated. From a clinical perspective, the importance of regular neuropsychiatric evaluations with attention to symptoms not always captured in diagnostic categories and of maintaining equilibrium between individual difficulties and competencies and environmental demands will be discussed.
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Registered trials
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.