ArticleGenetics in medicine : official journal of the American College of Medical Genetics2012
Functional outcomes of adults with 22q11.2 deletion syndrome.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
39 citing papers in PubMed, 2 syntheses or guidelines pooled it, 90 citations in OpenAlex.
- The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review.American journal of medical genetics. Part A · 2018Pooled it
- Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times.European journal of pediatrics · 2014Guideline
- 22q11.2 Deletion Syndrome: Cognitive, Visuomotor, and Adaptive Functioning Followed Longitudinally.Brain and behavior · 2025Article
- Real-Life Functioning in 22q11.2 Deletion Syndrome in Relation to Neurocognitive Abilities and Psychotic Symptoms: A Comparison With Idiopathic Schizophrenia.Journal of intellectual disability research : JIDR · 2025Article
- Expert consensus on classification and diagnosis of congenital orofacial cleft.Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2025Article
- Cognitive, adaptive and daily life functioning in adults with 22q11.2 deletion syndrome.BJPsych open · 2024Article
- PROs for RARE: protocol for development of a core patient reported outcome set for individuals with genetic intellectual disability.Orphanet journal of rare diseases · 2024Article
- Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.NPJ genomic medicine · 2024Article
- Adaptive behaviour deficits in individuals with 3q29 deletion syndrome.Journal of intellectual disability research : JIDR · 2024Article
- Adaptive behavior deficits in individuals with 3q29 deletion syndrome.medRxiv : the preprint server for health sciences · 2023Article
- The Importance of Understanding Individual Differences of Emotion Regulation Abilities in 22q11.2 Deletion Syndrome.Journal of autism and developmental disorders · 2022Article
- A normative chart for cognitive development in a genetically selected population.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2022Article
- Social behavior in 16p11.2 and 22q11.2 copy number variations: Insights from mice and humans.Genes, brain, and behavior · 2022Review
- Speech-language profiles in the context of cognitive and adaptive functioning in SATB2-associated syndrome.Genes, brain, and behavior · 2021Article
- A cross-comparison of cognitive ability across 8 genomic disorders.Current opinion in genetics & development · 2021Review
- Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome.The American journal of psychiatry · 2021Article
- All-cause mortality and survival in adults with 22q11.2 deletion syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Education and employment trajectories from childhood to adulthood in individuals with 22q11.2 deletion syndrome.European child & adolescent psychiatry · 2019Article
- Neurodevelopmental outcome in 22q11.2 deletion syndrome and management.American journal of medical genetics. Part A · 2018Review
- 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
6 authors at 2 institutions in 1 country.
Funding
Abstract
purposeThe 22q11.2 deletion syndrome is a common multisystem genomic disorder with congenital and later-onset manifestations, including congenital heart disease, intellectual disability, and psychiatric illness, that may affect long-term functioning. There are limited data on adult functioning in 22q11.2 deletion syndrome.
methodsWe used the Vineland Adaptive Behavior Scales to assess functioning in 100 adults with 22q11.2 deletion syndrome (n = 46 male; mean age = 28.8 (standard deviation = 9.7) years) where intellect ranged from average to borderline (n = 57) to mild intellectual disability (n = 43).
resultsMore than 75% of the subjects scored in the functional deficit range. Although personal, vocational, and financial demographics confirmed widespread functional impairment, daily living skills and employment were relative strengths. Intelligence quotient was a significant predictor (P < 0.001) of overall and domain-specific adaptive functioning skills. A diagnosis of schizophrenia was a significant predictor (P < 0.05) of overall adaptive functioning, daily living skills, and socialization scores. Notably, congenital heart disease, history of mood/anxiety disorders, sex, and age were not significant predictors of functioning.
conclusionDespite functional impairment in adulthood that is primarily mediated by cognitive and psychiatric phenotypes, relative strengths in activities of daily living and employment have important implications for services and long-term planning. These results may help to inform expectations about outcomes for patients with 22q11.2 deletion syndrome.
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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.