{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:51:50Z","timestamp":1791251510980,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T00:00:00Z","timestamp":1791158400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T00:00:00Z","timestamp":1791158400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J intellect Disabil Res"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>22q11.2 deletion syndrome (22q11.2DS) is an under\u2010recognized multi\u2010system genetic condition. There are limited data available on the delivery of care for adults with 22q11.2DS or the experience of patients and caregivers.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>At a dedicated multidisciplinary clinic for adults with 22q11.2DS, we distributed anonymous online surveys to adults with 22q11.2DS and their caregivers. We compared the results to those from a similar survey conducted before establishing the dedicated clinic using descriptive statistics with Benjamini\u2013Hochberg adjustment for multiple comparisons.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 149 responses were received from 40 adult\u201022q\u2010respondents and 109 caregiver\u2010respondents, with survey completion rates of 87.5% and 89.9%, respectively. Compared to pre\u2010clinic survey results, a significantly greater proportion of non\u2010neutral respondents agreed that medical services were easy to access and well coordinated (89\/118, 75.4% vs. 25\/50, 50.0%; adjusted\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.012) and that appropriate transition services were provided (84\/113, 74.3% vs. 15\/49, 30.6%; adjusted\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.001). A majority reported that the clinic improved access to other services and professionals (112\/120, 93.3%) and shared comprehensible information (124\/124, 100.0%). Supports provided by the social worker and dietitian were valued. 75\/108 (69.4%) of all non\u2010neutral respondents noted that external providers lacked sufficient information about 22q11.2DS. As before, the top challenges noted by both patients and caregivers were neuropsychiatric conditions.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The results support the need for, and perceived value of, specialized clinics for adults with complex healthcare needs and their caregivers.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jir.70187","type":"journal-article","created":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:03:25Z","timestamp":1791248605000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Perceived Impact of a Dedicated Clinic for Adults With 22q11.2 Deletion Syndrome"],"prefix":"10.1111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8429-6109","authenticated-orcid":false,"given":"Joanne C. Y.","family":"Loo","sequence":"first","affiliation":[{"name":"The Dalglish Family 22q Clinic Toronto General Hospital, University Health Network  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0757-5857","authenticated-orcid":false,"given":"Samantha","family":"D'Arcy","sequence":"additional","affiliation":[{"name":"The Dalglish Family 22q Clinic Toronto General Hospital, University Health Network  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4976-1260","authenticated-orcid":false,"given":"Lisa D.","family":"Palmer","sequence":"additional","affiliation":[{"name":"The Dalglish Family 22q Clinic Toronto General Hospital, University Health Network  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radhika","family":"Sivanandan","sequence":"additional","affiliation":[{"name":"The Dalglish Family 22q Clinic Toronto General Hospital, University Health Network  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1860-7292","authenticated-orcid":false,"given":"Tracy","family":"Heung","sequence":"additional","affiliation":[{"name":"The Dalglish Family 22q Clinic Toronto General Hospital, University Health Network  Toronto Ontario Canada"},{"name":"Clinical Genetics Research Program Centre for Addiction and Mental Health  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-6492-4622","authenticated-orcid":false,"given":"Adonis","family":"Ng","sequence":"additional","affiliation":[{"name":"The Dalglish Family 22q Clinic Toronto General Hospital, University Health Network  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3124-0897","authenticated-orcid":false,"given":"Maria","family":"Corral","sequence":"additional","affiliation":[{"name":"The Dalglish Family 22q Clinic Toronto General Hospital, University Health Network  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8762-6556","authenticated-orcid":false,"given":"Nikolai Gil D.","family":"Reyes","sequence":"additional","affiliation":[{"name":"The Dalglish Family 22q Clinic Toronto General Hospital, University Health Network  Toronto Ontario Canada"},{"name":"Clinical Genetics Research Program Centre for Addiction and Mental Health  Toronto Ontario Canada"},{"name":"Department of Psychiatry University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0681-7279","authenticated-orcid":false,"given":"Anne S.","family":"Bassett","sequence":"additional","affiliation":[{"name":"The Dalglish Family 22q Clinic Toronto General Hospital, University Health Network  Toronto Ontario Canada"},{"name":"Clinical Genetics Research Program Centre for Addiction and Mental Health  Toronto Ontario Canada"},{"name":"Department of Psychiatry University of Toronto  Toronto Ontario Canada"},{"name":"Toronto Adult Congenital Heart Disease, Division of Cardiology, Department of Medicine; Mental Health Program; and Toronto General Hospital Research Institute University Health Network  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,5]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0313845","article-title":"Like Milk on the Stove: Healthcare Professionals Navigating Uncertainty When Caring for Families With 22q11DS","volume":"20","author":"Ayoub S.","year":"2025","journal-title":"PLoS ONE"},{"key":"e_1_2_11_3_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.rare.2024.100033","article-title":"Undeleting the Voice of People With 22q11 Deletion Syndrome: A Scoping Review","volume":"2","author":"Ayoub S.","year":"2024","journal-title":"Rare"},{"key":"e_1_2_11_4_1","doi-asserted-by":"crossref","first-page":"E802","DOI":"10.9778\/cmajo.20200294","article-title":"Estimate of the Contemporary Live\u2010Birth Prevalence of Recurrent 22q11.2 Deletions: A Cross\u2010Sectional Analysis From Population\u2010Based Newborn Screening","volume":"9","author":"Blagojevic C.","year":"2021","journal-title":"CMAJ Open"},{"key":"e_1_2_11_5_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2022.11.012","article-title":"Updated Clinical Practice Recommendations for Managing Adults With 22q11.2 Deletion Syndrome","volume":"25","author":"Boot E.","year":"2023","journal-title":"Genetics in Medicine"},{"key":"e_1_2_11_6_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.jnha.2025.100573","article-title":"A Non\u2010Fasting Marker of Metabolic Syndrome in a High\u2010Risk Population","volume":"29","author":"Cancelliere S.","year":"2025","journal-title":"Journal of Nutrition, Health & Aging"},{"key":"e_1_2_11_7_1","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1111\/jir.13061","article-title":"An Online Survey to Understand the Needs of Caregivers of Family Members With 22q11 Deletion Syndrome","volume":"67","author":"Cosman T.","year":"2023","journal-title":"Journal of Intellectual Disability Research"},{"key":"e_1_2_11_8_1","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1002\/j.2051-5545.2011.tb00036.x","article-title":"Physical Illness in Patients With Severe Mental Disorders. II. Barriers to Care, Monitoring and Treatment Guidelines, Plus Recommendations at the System and Individual Level","volume":"10","author":"Hert M.","year":"2011","journal-title":"World Psychiatry"},{"key":"e_1_2_11_9_1","doi-asserted-by":"crossref","DOI":"10.2196\/jmir.6.3.e34","article-title":"Improving the Quality of Web Surveys: The Checklist for Reporting Results of Internet E\u2010Surveys (CHERRIES)","volume":"6","author":"Eysenbach G.","year":"2004","journal-title":"Journal of Medical Internet Research"},{"key":"e_1_2_11_10_1","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1017\/S0033291718001824","article-title":"Neurocognition and Adaptive Functioning in a Genetic High Risk Model of Schizophrenia","volume":"49","author":"Fiksinski A. M.","year":"2019","journal-title":"Psychological Medicine"},{"key":"e_1_2_11_11_1","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1038\/gim.2014.175","article-title":"Practical Guidelines for Managing Adults With 22q11.2 Deletion Syndrome","volume":"17","author":"Fung W. L.","year":"2015","journal-title":"Genetics in Medicine"},{"key":"e_1_2_11_12_1","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1037\/hea0000415","article-title":"You Don't Know Until You Get There: The Positive and Negative \u201cLived\u201d Experience of Parenting an Adult Child With 22q11.2 Deletion Syndrome","volume":"36","author":"Goodwin J.","year":"2017","journal-title":"Health Psychology"},{"issue":"1","key":"e_1_2_11_13_1","doi-asserted-by":"crossref","DOI":"10.3390\/bs16010019","article-title":"Navigating Services in the UK: The Lived Experiences of Families Affected by 22q11.2 Deletion Syndrome","volume":"16","author":"Gudbrandsen M.","year":"2025","journal-title":"Behavioral Sciences (Basel)"},{"key":"e_1_2_11_14_1","doi-asserted-by":"crossref","first-page":"1362","DOI":"10.1177\/1055665620947985","article-title":"Impact of Interdisciplinary Team Care for Children With 22q11.2 Deletion Syndrome","volume":"57","author":"Hickey S. E.","year":"2020","journal-title":"Cleft Palate\u2010Craniofacial Journal: Official Publication of the American Cleft Palate\u2010Craniofacial Association"},{"key":"e_1_2_11_15_1","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1038\/s41366-024-01685-2","article-title":"Obesity and Metabolic Syndrome in Adults With a 22q11.2 Microdeletion","volume":"49","author":"Jaspers Faijer\u2010Westerink H.","year":"2025","journal-title":"International Journal of Obesity"},{"key":"e_1_2_11_16_1","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1111\/j.1365-2788.2012.01639.x","article-title":"Perceived Burden and Neuropsychiatric Morbidities in Adults With 22q11.2 Deletion Syndrome","volume":"58","author":"Karas D. J.","year":"2014","journal-title":"Journal of Intellectual Disability Research"},{"key":"e_1_2_11_17_1","doi-asserted-by":"crossref","first-page":"1534","DOI":"10.1111\/jar.12747","article-title":"Personalized Medical Information Card for Adults With 22q11.2 Deletion Syndrome: An Initiative to Improve Communication Between Patients and Healthcare Providers","volume":"33","author":"Loo J. C. Y.","year":"2020","journal-title":"Journal of Applied Research in Intellectual Disabilities"},{"key":"e_1_2_11_18_1","article-title":"Healthcare Transition to Adulthood in Patients With 22q11.2 Deletion Syndrome: A Comprehensive Literature Review and Transition Framework","volume":"13","author":"MacIsaac M. F.","year":"2025","journal-title":"Cleft Palate\u2010Craniofacial Journal"},{"key":"e_1_2_11_19_1","doi-asserted-by":"crossref","first-page":"E1267","DOI":"10.1503\/cmaj.240782","article-title":"Closing Gaps in Care and Knowledge for Adults With Complex Genetic Conditions","volume":"196","author":"Malecki S.","year":"2024","journal-title":"CMAJ: Canadian Medical Association Journal"},{"key":"e_1_2_11_20_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2024.101088","article-title":"Young Adults With a 22q11.2 Microdeletion and the Cost of Aging With Complexity in a Population\u2010Based Context","volume":"26","author":"Malecki S. L.","year":"2024","journal-title":"Genetics in Medicine"},{"key":"e_1_2_11_21_1","doi-asserted-by":"crossref","DOI":"10.3390\/genes13111949","article-title":"The Unique Experience of a New Multidisciplinary Program for 22q Deletion and Duplication Syndromes in a Community Hospital in Florida: A Reaffirmation That Multidisciplinary Care Is Essential for Best Outcomes in These Patients","volume":"13","author":"Meneses Z.","year":"2022","journal-title":"Genes"},{"key":"e_1_2_11_22_1","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pdig.0000708","article-title":"Specialty\u2010Specific Evaluation of Virtual Care Outcomes: A Retrospective Quality and Safety Analysis (S\u2010EVOQUe)","volume":"4","author":"Mondoux S.","year":"2025","journal-title":"PLOS Digital Health"},{"key":"e_1_2_11_23_1","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1002\/jgc4.1667","article-title":"The Experiences of Families Receiving a Diagnosis of 22q11.2 Deletion Syndrome in Ireland","volume":"32","author":"O'Donoghue E.","year":"2023","journal-title":"Journal of Genetic Counseling"},{"key":"e_1_2_11_24_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2022.11.006","article-title":"Updated Clinical Practice Recommendations for Managing Children With 22q11.2 Deletion Syndrome","volume":"25","author":"Oskarsdottir S.","year":"2023","journal-title":"Genetics in Medicine"},{"key":"e_1_2_11_25_1","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1002\/ajmg.a.38645","article-title":"Elucidating the Diagnostic Odyssey of 22q11.2 Deletion Syndrome","volume":"176","author":"Palmer L. D.","year":"2018","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"e_1_2_11_26_1","doi-asserted-by":"crossref","DOI":"10.3390\/jcm10225457","article-title":"What Every Internist\u2010Endocrinologist Should Know About Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of \u2018Internal Medicine for Rare Genetic Syndromes\u2019","volume":"10","author":"Rosenberg A. G. W.","year":"2021","journal-title":"Journal of Clinical Medicine"},{"key":"e_1_2_11_27_1","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1176\/appi.ajp.2013.13070864","article-title":"Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome","volume":"171","author":"Schneider M.","year":"2014","journal-title":"American Journal of Psychiatry"},{"key":"e_1_2_11_28_1","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1016\/j.jcf.2025.11.012","article-title":"Development of a Multidisciplinary Syllabus to Support the Education and Training of Roles in Cystic Fibrosis Care: An ECFS Education Initiative","volume":"25","author":"Smith C.","year":"2025","journal-title":"Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society"},{"key":"e_1_2_11_29_1","doi-asserted-by":"crossref","first-page":"1630","DOI":"10.1002\/ajmg.a.37648","article-title":"Healthcare Utilization in Chromosome 22q11.2 Deletion Patients With Cardiac Disease and Low T Cell Counts","volume":"170","author":"Sullivan K. E.","year":"2016","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"e_1_2_11_30_1","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-025-03790-5","article-title":"The Impact of 22q11.2 Deletion Syndrome on Caregivers: Assessing Quality of Life and Burden","volume":"20","author":"Walkowiak D.","year":"2025","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"e_1_2_11_31_1","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1111\/cch.13013","article-title":"Talking With Children and Young People With 22q11DS About Their Mental Health, Behaviour, Learning and Communication","volume":"49","author":"Wray J.","year":"2022","journal-title":"Child: Care, Health and Development"},{"key":"e_1_2_11_32_1","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1016\/j.jtcvs.2024.02.005","article-title":"Impact of Telehealth Postoperative Care on Early Outcomes Following Esophagectomy","volume":"169","author":"Xiao K.","year":"2025","journal-title":"Journal of Thoracic and Cardiovascular Surgery"},{"key":"e_1_2_11_33_1","doi-asserted-by":"crossref","DOI":"10.1212\/CPJ.0000000000200459","article-title":"Unlocking the Potential of Telemedicine in Epilepsy: Noninferiority Analysis of Efficacy and Identifying Patient Preferences","volume":"15","author":"Yardi R.","year":"2025","journal-title":"Neurology Clinical Practice"}],"container-title":["Journal of Intellectual Disability Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jir.70187","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jir.70187","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jir.70187","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:03:31Z","timestamp":1791248611000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jir.70187"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,5]]},"references-count":32,"alternative-id":["10.1111\/jir.70187"],"URL":"https:\/\/doi.org\/10.1111\/jir.70187","archive":["Portico"],"relation":{},"ISSN":["0964-2633","1365-2788"],"issn-type":[{"value":"0964-2633","type":"print"},{"value":"1365-2788","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,5]]},"assertion":[{"value":"2026-03-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-18","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-10-05","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"jir.70187"}}