ArticleJournal of intellectual disability research : JIDR2012
Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome.
Article in Journal of intellectual disability research : JIDR, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 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
- Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development.Journal of intellectual disability research : JIDR · 2026Article
- Article
- Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.NPJ genomic medicine · 2024Article
- An ethical analysis of divergent clinical approaches to the application of genetic testing for autism and schizophrenia.Human genetics · 2022Article
- High Rates of Genetic Diagnosis in Psychiatric Patients with and without Neurodevelopmental Disorders: Toward Improved Genetic Diagnosis in Psychiatric Populations.Canadian journal of psychiatry. Revue canadienne de psychiatrie · 2020Article
- Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.JAMA network open · 2020Article
- Genetics of Childhood-onset Schizophrenia 2019 Update.Child and adolescent psychiatric clinics of North America · 2020Review
- Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies: A Health Technology Assessment.Ontario health technology assessment series · 2020Article
- Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2018Article
- Genomic Disorders in Psychiatry-What Does the Clinician Need to Know?Current psychiatry reports · 2017Review
- Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting.Prenatal diagnosis · 2017Article
- Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project.Journal of genetic counseling · 2016Article
- Disclosure of psychiatric manifestations of 22q11.2 deletion syndrome in medical genetics: A 12-year retrospective chart review.American journal of medical genetics. Part A · 2015Article
- Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome.Journal of genetic counseling · 2015Article
- Practical guidelines for managing adults with 22q11.2 deletion syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Review
- A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders.Journal of intellectual disability research : JIDR · 2015Article
- Perceived burden and neuropsychiatric morbidities in adults with 22q11.2 deletion syndrome.Journal of intellectual disability research : JIDR · 2014Article
- Evaluating genetic counseling for individuals with schizophrenia in the molecular age.Schizophrenia bulletin · 2014Article
- Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.Human molecular genetics · 2013Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundRecent advances in genetics are particularly relevant in the field of intellectual disability (ID), where sub-microscopic deletions or duplications of genetic material are increasingly implicated as known or suspected causal factors. Data-driven reports on the impact of providing an aetiological explanation in ID are needed to help justify widespread use of new and expensive genetic technologies.
methodsWe conducted a survey of caregivers on the value of a genetic/aetiologic diagnosis of 22q11.2 deletion syndrome (22q11.2DS), the most common microdeletion syndrome in ID. We also surveyed the opinion of a high-functioning subset of adults with 22q11.2DS themselves. We used standard quantitative and qualitative methods to analyse the responses.
resultsIn total, 73 of 118 surveys were returned (61.9%). There was convergence of quantitative and qualitative results, and consistency between adult patient and caregiver responses. A definitive molecular diagnosis of 22q11.2DS was a critical event with diverse positive repercussions, even if occurring later in life. Frequently cited benefits included greater understanding and certainty, newfound sense of purpose and a platform for advocacy, and increased opportunities to optimise medical, social and educational needs.
conclusionsThis is the first study to characterise the impact of a diagnosis of this representative microdeletion syndrome on adult patients and their families. The results both validate and expand on the theoretical benefits proposed by clinicians and researchers. The use of genome-wide microarray technologies will provide an increasing number of molecular diagnoses. The importance of a diagnosis of 22q11.2DS demonstrated here therefore has implications for changing attitudes about molecular genetic diagnosis that could benefit individuals with ID of currently unknown cause and their families.
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