ArticleAmerican journal of medical genetics. Part A2015
Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome.
Article in American journal of medical genetics. Part A, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 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.
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Who cites it
30 citing papers in PubMed, 3 syntheses or guidelines pooled it, 62 citations in OpenAlex.
- Genetics of catatonia: a systematic review of case reports and a gene pathway analysis.European psychiatry : the journal of the Association of European Psychiatrists · 2025Pooled it
- Effectiveness and side effects of psychopharmacotherapy in individuals with 22q11.2 deletion syndrome with comorbid psychiatric disorders: a systematic review.European child & adolescent psychiatry · 2020Pooled it
- Adverse effects of antipsychotic medication in patients with 22q11.2 deletion syndrome: A systematic review.American journal of medical genetics. Part A · 2019Pooled it
- What Matters Most? Developing a Core Patient Reported Outcome Set for Individuals With Genetic Intellectual Disabilities: An International Delphi Study.Journal of intellectual disability research : JIDR · 2026Article
- Transcriptomic profiling of DYT-TOR1A patient-derived iPSC reveals dysregulation in extracellular matrix, lipid metabolism, and Chr22q11.23.BMC medical genomics · 2025Article
- Dissecting the Phenotypic Spectrum and Complexity of Movement Disorders in 22q11.2 Deletion Syndrome.European journal of neurology · 2025Article
- Review
- Non-Motor Symptoms inJournal of clinical medicine · 2022Article
- Neurological manifestation of 22q11.2 deletion syndrome.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Review
- Movement Disorders and Musculoskeletal System: A Reciprocal Relationship.Movement disorders clinical practice · 2022Review
- Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs.Brain sciences · 2021Article
- The Role of Alpha-Synuclein and Other Parkinson's Genes in Neurodevelopmental and Neurodegenerative Disorders.International journal of molecular sciences · 2020Review
- Age-Related Parkinsonian Signs in Microdeletion 22q11.2.Movement disorders : official journal of the Movement Disorder Society · 2020Article
- Neurobiological perspective of 22q11.2 deletion syndrome.The lancet. Psychiatry · 2019Review
- Using kinematic analyses to explore sensorimotor control impairments in children with 22q11.2 deletion syndrome.Journal of neurodevelopmental disorders · 2019Article
- Subcortical Myoclonus and Associated Dystonia in 22q11.2 Deletion Syndrome.Tremor and other hyperkinetic movements (New York, N.Y.) · 2019Article
- miR-185 and SEPT5 Genes May Contribute to Parkinson's Disease Pathophysiology.Oxidative medicine and cellular longevity · 2019Article
- 22q11.2 Deletion Syndrome-Associated Parkinson's Disease.Movement disorders clinical practice · 2019Review
- Local and global chromatin interactions are altered by large genomic deletions associated with human brain development.Nature communications · 2018Article
- Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series.American journal of medical genetics. Part A · 2018Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In addition to an increased susceptibility to neuropsychiatric disorders, seizures, and early-onset Parkinson disease, the underlying brain dysfunction associated with 22q11.2DS may give rise to an increased vulnerability to multiple movement abnormalities, including those influenced by medications. Movement abnormalities may also be secondary to treatable endocrine diseases and congenital musculoskeletal abnormalities. We propose that movement abnormalities may be common in adults with 22q11.2DS and discuss the implications and challenges important to clinical practice.
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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.