{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T18:50:09Z","timestamp":1789843809414,"version":"4.0.1"},"reference-count":17,"publisher":"SAGE Publications","issue":"9","license":[{"start":{"date-parts":[[2024,7,23]],"date-time":"2024-07-23T00:00:00Z","timestamp":1721692800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To explore the role of multidisciplinary velopharyngeal dysfunction (VPD) assessment in diagnosing 22q11.2 deletion syndrome (22q) in children.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>Retrospective cohort study.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Setting<\/jats:title>\n                    <jats:p>Multidisciplinary VPD clinic at a tertiary pediatric hospital.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients, Participants<\/jats:title>\n                    <jats:p>Seventy-five children with genetically confirmed 22q evaluated at the VPD clinic between February 2007 and February 2023, including both previously diagnosed patients and those newly diagnosed as a result of VPD evaluation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interventions<\/jats:title>\n                    <jats:p>Comprehensive review of medical records, utilizing ICD-10 codes and an institutional tool for keyword searches, to identify patients and collect data on clinical variables and outcomes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Main Outcome Measures<\/jats:title>\n                    <jats:p>Characteristics of children with 22q, pathways to diagnosis, and clinical presentations that led to genetic testing for 22q.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Of the 75 children, 9 were newly diagnosed with 22q following VPD evaluation. Non-cleft VPI was a significant indicator for 22q in children not previously diagnosed, occurring in 100% of newly diagnosed cases compared to 52% of cases with existing 22q diagnosis (\n                      <jats:italic toggle=\"yes\">P<\/jats:italic>\n                      \u2009=\u2009.008). Additional clinical findings leading to diagnosis included congenital heart disease, craniofacial abnormalities, and developmental delays.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>VPD evaluations, particularly the presence of non-cleft VPI, play a crucial role in identifying undiagnosed cases of 22q. This underscores the need for clinicians, including plastic surgeons, otolaryngologists, and speech-language pathologists, to maintain a high degree of suspicion for 22q in children presenting with VPI without a clear etiology. Multidisciplinary approaches are essential for early diagnosis and management of this complex condition.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/10556656241266464","type":"journal-article","created":{"date-parts":[[2024,7,23]],"date-time":"2024-07-23T19:12:14Z","timestamp":1721761934000},"page":"1588-1591","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Multidisciplinary Velopharyngeal Dysfunction Evaluation Helps Detect Non-classic Cases of 22q11.2 Deletion"],"prefix":"10.1177","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2954-8849","authenticated-orcid":false,"given":"Krystof","family":"Stanek","sequence":"first","affiliation":[{"name":"Plastic and Oral Surgery, Boston Children's Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice T.","family":"Wang","sequence":"additional","affiliation":[{"name":"Johns Hopkins University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne F.","family":"Hseu","sequence":"additional","affiliation":[{"name":"Plastic and Oral Surgery, Boston Children's Hospital"},{"name":"Boston Children's Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roseanne E.","family":"Clark","sequence":"additional","affiliation":[{"name":"Boston Children's Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John G.","family":"Meara","sequence":"additional","affiliation":[{"name":"Plastic and Oral Surgery, Boston Children's Hospital"},{"name":"Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger C.","family":"Nuss","sequence":"additional","affiliation":[{"name":"Plastic and Oral Surgery, Boston Children's Hospital"},{"name":"Boston Children's Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6751-6990","authenticated-orcid":false,"given":"Ingrid M.","family":"Ganske","sequence":"additional","affiliation":[{"name":"Plastic and Oral Surgery, Boston Children's Hospital"},{"name":"Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2166-1209","authenticated-orcid":false,"given":"Carolyn R.","family":"Rogers-Vizena","sequence":"additional","affiliation":[{"name":"Plastic and Oral Surgery, Boston Children's Hospital"},{"name":"Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,7,23]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.71"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40637"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2014.01.056"},{"issue":"5","key":"e_1_3_2_5_2","first-page":"382","article-title":"Congenital heart disease as a warning sign for the diagnosis of the 22q11.2 deletion","volume":"103","author":"Grassi MS","year":"2014","unstructured":"Grassi MS, Jacob CM, Kulikowski LD, et al. Congenital heart disease as a warning sign for the diagnosis of the 22q11.2 deletion. Arq Bras Cardiol. 2014;103(5):382-390.","journal-title":"Arq Bras Cardiol"},{"issue":"1","key":"e_1_3_2_6_2","first-page":"11","article-title":"The Philadelphia story: the 22q11.2 deletion: report on 250 patients","volume":"10","author":"McDonald-McGinn DM","year":"1999","unstructured":"McDonald-McGinn DM, Kirschner R, Goldmuntz E, et al. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns. 1999;10(1):11-24.","journal-title":"Genet Couns"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<8::AID-AJMG2>3.0.CO;2-O"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61152"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.1.101"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/1098-2779(2000)6:2<142::AID-MRDD9>3.0.CO;2-H"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.2302\/kjm.51.77"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.105356"},{"key":"e_1_3_2_13_2","unstructured":"McDonald-Mcginn D. 22q11.2 Deletion Syndrome. GeneReviews [Internet] Web site. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1523\/. Published 2020. Accessed February 1 2024."},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.175"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34226"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-010-9306-0"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.71"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38645"}],"container-title":["The Cleft Palate Craniofacial Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10556656241266464","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/10556656241266464","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10556656241266464","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:21:59Z","timestamp":1777393319000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/10556656241266464"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,23]]},"references-count":17,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1177\/10556656241266464"],"URL":"https:\/\/doi.org\/10.1177\/10556656241266464","relation":{},"ISSN":["1055-6656","1545-1569"],"issn-type":[{"value":"1055-6656","type":"print"},{"value":"1545-1569","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,23]]}}}