{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:22:04Z","timestamp":1747146124387,"version":"3.40.5"},"reference-count":29,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,5,28]],"date-time":"2021-05-28T00:00:00Z","timestamp":1622160000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Down syndrome (DS) is the most common chromosomal condition. Anatomical and functional variations in the upper and lower airways are component manifestations of the syndrome and increase the risk of various medical problems. The objective of this study was to determine the prevalence of otorhinolaryngological and respiratory diseases in a DS outpatient clinic over a 3\u2010year period. Medical records data from 1207 patients were retrospectively reviewed. Newborn Hearing Screening was positive in 7.1% of patients. Brainstem auditory evoked potential was performed in 1101 children and showed a hearing loss of 19.8% in the first year. It was positive in 21% of 1021 exams. Audiometry was altered in 64 of 994 exams (6.4%), showing a conductive loss in 90%. Adenotonsillectomy was performed in 308 (25.5%) patients, and 169 (14.0%) required serous otitis ventilation tubes. Asthma was observed in 140 (11.6%) patients, and allergic rhinitis in 544 (56.6%). There were hospitalizations for invasive infection in 480 (39.8%) children, and two (0.2%) patients had severe septicemia from pulmonary focus. Five (0.4%) infants had laryngotracheomalacia, and one patient had anomalous right tracheal bronchus. Recognizing the prevalence of respiratory and otorhinolaryngological disorders in patients with DS allows the promotion of optimal follow\u2010up and early treatment, preventing the development of sequelae.<\/jats:p>","DOI":"10.1002\/ajmg.a.62244","type":"journal-article","created":{"date-parts":[[2021,5,28]],"date-time":"2021-05-28T07:56:57Z","timestamp":1622188617000},"page":"2356-2360","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Respiratory and otolaryngological disorders in Down syndrome from one center in Brazil"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2027-7221","authenticated-orcid":false,"given":"Beatriz Elizabeth Bagatin Veleda","family":"Bermudez","sequence":"first","affiliation":[{"name":"Down Syndrome Outpatient Clinic, Hospital de Cl\u00ednicas, Universidade Federal do Paran\u00e1  Curitiba Brazil"},{"name":"Department of Integrated Medicine Federal University of Paran\u00e1  Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Eduarda","family":"de Souza do Amaral","sequence":"additional","affiliation":[{"name":"Down Syndrome Outpatient Clinic, Hospital de Cl\u00ednicas, Universidade Federal do Paran\u00e1  Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles","family":"da Silva Gomes","sequence":"additional","affiliation":[{"name":"Down Syndrome Outpatient Clinic, Hospital de Cl\u00ednicas, Universidade Federal do Paran\u00e1  Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iolanda Maria","family":"Novadzki","sequence":"additional","affiliation":[{"name":"Down Syndrome Outpatient Clinic, Hospital de Cl\u00ednicas, Universidade Federal do Paran\u00e1  Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6823-7395","authenticated-orcid":false,"given":"Camila Maciel","family":"de Oliveira","sequence":"additional","affiliation":[{"name":"Department of Integrated Medicine Federal University of Paran\u00e1  Curitiba Brazil"},{"name":"Global Co\u2010creation Lab, MIT  Cambridge Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,5,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.prrv.2017.07.003"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2018-0225"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.10332"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/INF.0b013e3181b34e52"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1067\/mai.2001.118891"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2011-1605"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2014.03.012"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.111.2.436"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.repc.2013.05.008"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.3310\/hta18600"},{"key":"e_1_2_8_12_1","unstructured":"Global Initiative for Asthma. (2017).Global strategy for asthma management and prevention. Retrieved fromhttp:\/\/ginasthma.org\/download\/317\/."},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-2333"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.09.053"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2016.06.057"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2014.02.032"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-4486.2012.02482.x"},{"key":"e_1_2_8_18_1","unstructured":"Movimento Down.Brasil. (2020).http:\/\/www.movimentodown.org.br\/2012\/12\/estatisticas\/"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1177\/0194599817703921"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1044\/2017_AJA-17-0010"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/MAO.0b013e318289866e"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rchipe.2015.07.008"},{"issue":"2","key":"e_1_2_8_23_1","doi-asserted-by":"crossref","first-page":"87","DOI":"10.24875\/BMHIM.19000124","article-title":"Caracter\u00edsticas otorrinolaringol\u00f3gicas en ni\u00f1os con trisom\u00eda 21: un estudio de 171 pacientes en el Hospital Infantil de M\u00e9xico Federico G\u00f3mez. Otolaryngological features in children with trisomy 21: a study of 171 patients at the Hospital Infantil de M\u00e9xico Federico G\u00f3mez","volume":"76","author":"Peraza N.","year":"2019","journal-title":"Bolet\u00edn M\u00e9dico del Hospital Infantil de M\u00e9xico"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.otc.2012.03.010"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.11.032"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30095"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2014.09.005"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.3389\/fpubh.2014.00022"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2013-304611"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2011.02367.x"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62244","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62244","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62244","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T08:38:18Z","timestamp":1693211898000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62244"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,28]]},"references-count":29,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1002\/ajmg.a.62244"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62244","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2021,5,28]]},"assertion":[{"value":"2019-12-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}