{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T02:27:17Z","timestamp":1773973637904,"version":"3.50.1"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T00:00:00Z","timestamp":1764028800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T00:00:00Z","timestamp":1764028800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur Arch Otorhinolaryngol"],"published-print":{"date-parts":[[2026,3]]},"DOI":"10.1007\/s00405-025-09875-y","type":"journal-article","created":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T14:46:19Z","timestamp":1764081979000},"page":"1947-1957","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Otolaryngologic disease in 22q11.2 deletion syndrome: spectrum, co-occurrence, and outcomes in a contemporary pediatric cohort"],"prefix":"10.1007","volume":"283","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-0651-6994","authenticated-orcid":false,"given":"Sholem","family":"Hack","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ory","family":"Madgar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,11,25]]},"reference":[{"key":"9875_CR1","doi-asserted-by":"publisher","unstructured":"Blagojevic C, Heung T, Theriault M, Tomita-Mitchell A, Chakraborty P, Kernohan K et al (2021) Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening. CMAJ open [Internet]. 9:E802\u2013E809 [cited\u00a020 Jun 2025];. https:\/\/doi.org\/10.9778\/CMAJO.20200294","DOI":"10.9778\/CMAJO.20200294"},{"key":"9875_CR2","doi-asserted-by":"publisher","unstructured":"Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M et al (2017) 22q11.2 deletion syndrome in diverse Populations. Am J med genet A [Internet], vol 173. Wiley-Liss Inc., p 879. [cited\u00a020 Jun 2025];https:\/\/doi.org\/10.1002\/AJMG.A.38199","DOI":"10.1002\/AJMG.A.38199"},{"key":"9875_CR3","doi-asserted-by":"publisher","unstructured":"Cort\u00e9s-Mart\u00edn J, Pe\u00f1uela NL, S\u00e1nchez-Garc\u00eda JC, Montiel-Troya M, D\u00edaz-Rodr\u00edguez L, Rodr\u00edguez-Blanque R (2022) Deletion Syndrome 22q11.2: A Systematic Review. Children [Internet]. Multidisciplinary Digital Publishing Institute (MDPI); [cited\u00a020 Jun 2025];9:1168. https:\/\/doi.org\/10.3390\/CHILDREN9081168","DOI":"10.3390\/CHILDREN9081168"},{"key":"9875_CR4","doi-asserted-by":"publisher","first-page":"15071","DOI":"10.1038\/NRDP.2015.71","volume":"1","author":"DM McDonald-McGinn","year":"2015","unstructured":"McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JAS et al (2015) 22q11.2 deletion syndrome. Nat Rev Dis Primers [Internet] Nat Publishing Group 1:15071 [cited 2025 Jun 20];. https:\/\/doi.org\/10.1038\/NRDP.2015.71","journal-title":"Nat Rev Dis Primers [Internet] Nat Publishing Group"},{"key":"9875_CR5","doi-asserted-by":"publisher","DOI":"10.1186\/S40463-020-00451-4","author":"S Failla","year":"2020","unstructured":"Failla S, You P, Rajakumar C, Dworschak-Stokan A, Doyle PC, Husein M, J Otolaryngol Head Neck Surg (2020) Characteristics of velopharyngeal dysfunction in 22q11.2 deletion syndrome: a retrospective case-control study. J Otolaryngol Head Neck Surg. https:\/\/doi.org\/10.1186\/S40463-020-00451-4","journal-title":"J Otolaryngol Head Neck Surg"},{"key":"9875_CR6","doi-asserted-by":"publisher","unstructured":"Kloosterman N, Freeman MH, Belcher RH (2024) Assessing Complication Risk of Pressure Equalizing Tube Placement in Children With Velocardiofacial Syndrome (22q11.2 Deletion Syndrome\/DiGeorge Syndrome). 133:224\u2013228 [cited\u00a020 Jun 2025];. https:\/\/doi.org\/10.1177\/00034894231202063. Ann Otol Rhinol Laryngol [Internet]Ann Otol Rhinol Laryngol","DOI":"10.1177\/00034894231202063"},{"key":"9875_CR7","doi-asserted-by":"publisher","unstructured":"Arganbright J, Crowley TB, Tracy M, Noel-MacDonnell J, Gaiser K, Yaktine L, Laryngoscope et al (2025) Hearing loss in children with 22q11.2 deletion syndrome. Laryngoscope. https:\/\/doi.org\/10.1002\/LARY.31777","DOI":"10.1002\/LARY.31777"},{"key":"9875_CR8","doi-asserted-by":"publisher","first-page":"928","DOI":"10.3174\/AJNR.A5588","volume":"39","author":"DM Zackai","year":"2018","unstructured":"Zackai DM, Mcdonald-Mcginn HGXM, Thomeer E, Verheij L, Elden TB, Crowley FA et al (2018) Anatomic malformations of the middle and inner ear in 22q11.2 deletion syndrome: case series and literature review. Am J Neuroradiol [Internet] Am J Neuroradiol 39:928\u2013934 [cited 2025 Jun 20];. https:\/\/doi.org\/10.3174\/AJNR.A5588","journal-title":"Am J Neuroradiol [Internet] Am J Neuroradiol"},{"key":"9875_CR9","doi-asserted-by":"publisher","unstructured":"Dyce O, McDonald-McGinn D, Kirschner RE, Zackai E, Young K, Jacobs IN (2002) Otolaryngologic Manifestations of the 22q11.2 Deletion Syndrome, vol 128. American Medical Association, pp 1408\u20131412. [cited\u00a020 Jun 2025].Arch Otolaryngol Head Neck Surg [Internet];https:\/\/doi.org\/10.1001\/ARCHOTOL.128.12.1408","DOI":"10.1001\/ARCHOTOL.128.12.1408"},{"key":"9875_CR10","doi-asserted-by":"publisher","unstructured":"Jones JW, Tracy M, Perryman M, Arganbright JM (2018) Airway Anomalies in Patients With 22q11.2 Deletion Syndrome: A 5-Year Review. 127:384\u2013389 [cited\u00a020 Jun 2025];Ann Otol Rhinol Laryngol [Internet]Ann Otol Rhinol Laryngol.\u00a0https:\/\/doi.org\/10.1177\/0003489418771711","DOI":"10.1177\/0003489418771711"},{"key":"9875_CR11","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1016\/J.IJPORL.2017.02.012","volume":"96","author":"R Sacca","year":"2017","unstructured":"Sacca R, Zur KB, Crowley TB, Zackai EH, Valverde KD, McDonald-McGinn DM, Int J Pediatr Otorhinolaryngol (2017) Association of airway abnormalities with 22q11.2 deletion syndrome. Int J Pediatr Otorhinolaryngol 96:11\u20134. https:\/\/doi.org\/10.1016\/J.IJPORL.2017.02.012","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"9875_CR12","doi-asserted-by":"publisher","unstructured":"Solot CB, Sell D, Mayne A, Baylis AL, Persson C, Jackson O et al (2019) Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management. 28:984 [cited\u00a020 Jun 2025];Am J Speech Lang Pathol [Internet]American Speech-Language-Hearing Association.\u00a0https:\/\/doi.org\/10.1044\/2019_AJSLP-16-0147","DOI":"10.1044\/2019_AJSLP-16-0147"},{"key":"9875_CR13","doi-asserted-by":"publisher","unstructured":"McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JAS, Nat Rev Dis Primers et al (2015) 22q11.2 deletion syndrome. Nat Rev Dis Primers. https:\/\/doi.org\/10.1038\/NRDP.2015.71","DOI":"10.1038\/NRDP.2015.71"},{"key":"9875_CR14","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1016\/J.IJPORL.2016.06.005","volume":"87","author":"P Jiramongkolchai","year":"2016","unstructured":"Jiramongkolchai P, Kumar MS, Chinnadurai S, Wootten CT, Goudy SL, Int J Pediatr Otorhinolaryngol (2016) Prevalence of hearing loss in children with 22q11.2 deletion syndrome. Int J Pediatr Otorhinolaryngol 87:130\u20133. https:\/\/doi.org\/10.1016\/J.IJPORL.2016.06.005","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"9875_CR15","doi-asserted-by":"publisher","first-page":"1480","DOI":"10.1097\/SCS.0000000000004859","volume":"29","author":"DC\u00c1 Carvajal","year":"2018","unstructured":"Carvajal DC\u00c1, Aguilera MMP, Meneses MBG, Bravo-Torres S, Villarroel CG, J Craniofac Surg (2018) 22q11.2 Deletion: Surgical and Speech Outcomes of Patients With Velopharyngeal Insufficiency Treated With a Superiorly Based Pharyngeal Flap as the Primary Surgery. J Craniofac Surg 29:1480\u20135. https:\/\/doi.org\/10.1097\/SCS.0000000000004859","journal-title":"J Craniofac Surg"},{"key":"9875_CR16","doi-asserted-by":"publisher","DOI":"10.1016\/J.GIM.2022.11.006","volume":"25","author":"S \u00d3skarsd\u00f3ttir","year":"2023","unstructured":"\u00d3skarsd\u00f3ttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M et al (2023) Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome. Genet Med 25:100338. https:\/\/doi.org\/10.1016\/J.GIM.2022.11.006","journal-title":"Genet Med"},{"key":"9875_CR17","doi-asserted-by":"publisher","unstructured":"Crockett DJ, Goudy SL, Chinnadurai S, Wootten CT, Frontiers Media SA (2014) [cited\u00a020 Jun 2025];2:84. https:\/\/doi.org\/10.3389\/FPED.2014.00084","DOI":"10.3389\/FPED.2014.00084"},{"key":"9875_CR18","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1177\/1055665620942436","volume":"58","author":"J Fleming","year":"2021","unstructured":"Fleming J, Morrell N, Zavala H, Chinnadurai S, Roby BB (2021) Submucous cleft palate repair in patients with 22q11.2 deletion syndrome. Cleft Palate Craniofac J 58:84\u20139. https:\/\/doi.org\/10.1177\/1055665620942436","journal-title":"Cleft Palate Craniofac J"},{"key":"9875_CR19","doi-asserted-by":"publisher","unstructured":"C\u00e1rdenas-Nieto D, Forero-Castro M, Esteban-P\u00e9rez C, Mart\u00ednez-Lozano J, Brice\u00f1o-Balc\u00e1zar I (2019) The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: a Systematic Review, vol 9. Georg Thieme KG, p 1. [cited\u00a020 Jun 2025];J Pediatr Genet [Internet].\u00a0https:\/\/doi.org\/10.1055\/S-0039-1698804","DOI":"10.1055\/S-0039-1698804"},{"key":"9875_CR20","doi-asserted-by":"publisher","DOI":"10.1371\/JOURNAL.PONE.0034332","volume":"7","author":"NE Spruijt","year":"2012","unstructured":"Spruijt NE, ReijmanHinze J, Hens G, Vander Poorten V, van der Mink Molen AB (2012) In search of the optimal surgical treatment for velopharyngeal dysfunction in 22q11.2 deletion syndrome: a systematic review. PLoS One 7:e34332. https:\/\/doi.org\/10.1371\/JOURNAL.PONE.0034332","journal-title":"PLoS One"},{"key":"9875_CR21","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1097\/PRS.0000000000010854","volume":"154","author":"AT Wang","year":"2024","unstructured":"Wang AT, Hseu AF, Staffa SJ, Clark RE, Meara JG, Nuss RC et al (2024) Comparative study of pharyngeal flap outcomes between children with 22q11.2 deletion syndrome and nonsyndromic cleft lip and palate. Plast Reconstr Surg 154:151\u201360. https:\/\/doi.org\/10.1097\/PRS.0000000000010854","journal-title":"Plast Reconstr Surg"},{"issue":"2","key":"9875_CR22","doi-asserted-by":"publisher","first-page":"765","DOI":"10.1007\/S00405-016-4365-Y","volume":"274","author":"E Verheij","year":"2017","unstructured":"Verheij E, Kist AL, van der Mink Molen AB, Stegeman I, van Zanten GA, Grolman W et al (2017) Otologic and audiologic findings in 22q11.2 deletion syndrome. Eur Arch Otorhinolaryngol 274(2):765\u201371. https:\/\/doi.org\/10.1007\/S00405-016-4365-Y","journal-title":"Eur Arch Otorhinolaryngol"},{"key":"9875_CR23","doi-asserted-by":"publisher","unstructured":"Elden LM (2022) Otolaryngologic issues in association with 22q11.2 deletion syndrome. The chromosome 22q112 deletion syndrome: a multidisciplinary approach to diagnosis and treatment. Academic, pp 160\u2013173. https:\/\/doi.org\/10.1016\/B978-0-12-816047-3.00003-4","DOI":"10.1016\/B978-0-12-816047-3.00003-4"},{"key":"9875_CR24","doi-asserted-by":"publisher","DOI":"10.3390\/DIAGNOSTICS13162714","volume":"13","author":"Y Zhang","year":"2023","unstructured":"Zhang Y, Zhang J, Li W, Yin H, He L, Multidisciplinary Digital Publishing Institute (MDPI) (2023) Automatic detection system for velopharyngeal insufficiency based on acoustic signals from nasal and oral channels. Diagnostics 13:2714. https:\/\/doi.org\/10.3390\/DIAGNOSTICS13162714","journal-title":"Diagnostics"},{"key":"9875_CR25","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1044\/2018_AJSLP-18-0037","volume":"28","author":"AL Baylis","year":"2019","unstructured":"Baylis AL, Shriberg LD (2019) Estimates of the prevalence of speech and motor speech disorders in youth with 22q11.2 deletion syndrome. Am J Speech Lang Pathol 28:53\u201382. https:\/\/doi.org\/10.1044\/2018_AJSLP-18-0037","journal-title":"Am J Speech Lang Pathol"},{"key":"9875_CR26","doi-asserted-by":"publisher","unstructured":"Rakonjac M, Cuturilo G, Kovacevic-Grujicic N, Simeunovic I, Kostic J, Stevanovic M et al (2024) Speech sounds Production, narrative Skills, and verbal memory of children with 22q11.2 microdeletion. 11:489 [cited\u00a020 Jun 2025];Multidisciplinary Digital Publishing Institute (MDPI). https:\/\/doi.org\/10.3390\/CHILDREN11040489\/S1","DOI":"10.3390\/CHILDREN11040489\/S1"},{"key":"9875_CR27","doi-asserted-by":"publisher","first-page":"2813","DOI":"10.1002\/LARY.30579","volume":"133","author":"P Pattisapu","year":"2023","unstructured":"Pattisapu P, Kinter S, Bly RA, Dahl JP, Perkins JA, Wang X et al (2023) Sphincter pharyngoplasty for velopharyngeal dysfunction: impact of 22q11.2 deletion syndrome. Laryngoscope 133:2813\u201320. https:\/\/doi.org\/10.1002\/LARY.30579","journal-title":"Laryngoscope"},{"issue":"2","key":"9875_CR28","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1177\/0194599819839958","volume":"161","author":"LA Bohm","year":"2019","unstructured":"Bohm LA, Miller JE, Morrell N, Sidman JD, Roby BB (2019) Surgical outcomes for the treatment of velopharyngeal insufficiency in 22q11.2 deletion syndrome. Otolaryngol Head Neck Surg 161(2):348\u201351. https:\/\/doi.org\/10.1177\/0194599819839958","journal-title":"Otolaryngol Head Neck Surg"},{"key":"9875_CR29","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1097\/00125817-200101000-00009","volume":"3","author":"M Gerdes","year":"2001","unstructured":"Gerdes M, Solot C, Wang PP, McDonald-McGinn DM, Zackai EH (2001) Taking advantage of early diagnosis: preschool children with the 22q11.2 deletion. Genet Med 3:40\u20134. https:\/\/doi.org\/10.1097\/00125817-200101000-00009","journal-title":"Genet Med"},{"issue":"5","key":"9875_CR30","doi-asserted-by":"publisher","first-page":"1320","DOI":"10.1097\/SCS.0000000000003722","volume":"28","author":"RD Wagner","year":"2017","unstructured":"Wagner RD, Wolfswinkel EM, Buchanan EP, Khechoyan DY (2017) Surgical outcomes for speech surgery in 22q11.2 deletion syndrome: the dilemma of persistent velopharyngeal insufficiency after pharyngeal flap operation. J Craniofac Surg 28(5):1320\u20134. https:\/\/doi.org\/10.1097\/SCS.0000000000003722","journal-title":"J Craniofac Surg"},{"key":"9875_CR31","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1016\/J.IJPORL.2016.06.044","volume":"88","author":"P Jiramongkolchai","year":"2016","unstructured":"Jiramongkolchai P, Kumar MS, Sowder D, Chinnadurai S, Wootten CT, Goudy SL, Elsevier (2016) Speech outcomes in children with 22q11.2 deletion syndrome following surgery for velopharyngeal insufficiency. Int J Pediatr Otorhinolaryngol 88:34\u20137. https:\/\/doi.org\/10.1016\/J.IJPORL.2016.06.044","journal-title":"Int J Pediatr Otorhinolaryngol"}],"container-title":["European Archives of Oto-Rhino-Laryngology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00405-025-09875-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00405-025-09875-y","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00405-025-09875-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T01:51:59Z","timestamp":1773971519000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00405-025-09875-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,25]]},"references-count":31,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["9875"],"URL":"https:\/\/doi.org\/10.1007\/s00405-025-09875-y","relation":{},"ISSN":["0937-4477","1434-4726"],"issn-type":[{"value":"0937-4477","type":"print"},{"value":"1434-4726","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,25]]},"assertion":[{"value":"29 July 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 November 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 November 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declaration"}},{"value":"This study was approved by the institutional review board at Sheba Medical Center (IRB number 1850-25-SMC-D). All data were de-identified prior to analysis to protect patient privacy.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Statement"}},{"value":"All authors have no conflicts of interest or financial ties to disclose, nor has the manuscript been previously presented.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interests"}}]}}