{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T10:07:42Z","timestamp":1784196462483,"version":"3.55.0"},"reference-count":54,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T00:00:00Z","timestamp":1784160000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Introduction: Children with Down syndrome (DS) are at increased risk of sleep-disordered breathing (SDB), but clinical correlates of polysomnography-derived severity remain incompletely defined. Objectives: This retrospective clinical\u2013polysomnographic cohort study examined associations between selected demographic, anthropometric, cardiac, and otolaryngological variables and SDB severity metrics in children and adolescents with DS. Materials and Methods: Forty-eight participants aged \u2264 18 years underwent overnight polysomnography for suspected SDB. Respiratory events were scored according to paediatric AASM criteria; hypopnoeas required a \u226530% airflow reduction associated with \u22653% oxygen desaturation and\/or arousal, and ODI was calculated using \u22653% desaturation events per hour of total sleep time. Outcomes included Apnoea\u2013Hypopnoea Index (AHI), ODI, minimum SpO2, and time with SpO2 &lt; 90%. Results: OSA was highly prevalent: AHI \u2265 1 event\/h was observed in 93.8% of participants, AHI \u2265 5 events\/h in 58.3%, and AHI \u2265 10 events\/h in 35.4%. Mean AHI was 10.51 \u00b1 11.82 events\/h, and mean ODI was 7.07 \u00b1 9.31 events\/h. Age at PSG was not significantly associated with AHI. AHI correlated with ODI, and clinically documented adenoidal hypertrophy correlated with both AHI and ODI. Males showed significantly higher ODI values than females, whereas sex differences in AHI, minimum SpO2, and time with SpO2 &lt; 90% were not significant. In exploratory multivariable models, adenoidal hypertrophy was associated with higher ODI, while adenotonsillectomy was associated with lower minimum SpO2. Conclusions: The association between atrioventricular canal defect and hypoxaemic burden was not robust in bootstrap analyses. These exploratory findings do not warrant changes to current screening management strategies, but support further prospective studies incorporating standardised ENT and cardiac characterisation.<\/jats:p>","DOI":"10.3390\/jcm15145581","type":"journal-article","created":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T09:23:14Z","timestamp":1784193794000},"page":"5581","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Understanding Severe Sleep-Disordered Breathing in Down Syndrome: Insights from a Clinical\u2013Polysomnographic Cohort"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8659-5505","authenticated-orcid":false,"given":"Marco","family":"Zaffanello","sequence":"first","affiliation":[{"name":"Department of Surgical Sciences, Dentistry, Gynaecology and Pediatrics, University of Verona, 37129 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2412-7765","authenticated-orcid":false,"given":"Luca","family":"Levrini","sequence":"additional","affiliation":[{"name":"Department of Human Science and Innovation for the Territory, University of Insubria, 21100 Varese, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"De Giorgi","sequence":"additional","affiliation":[{"name":"Division of Paediatrics, Insubria University, \u201cFilippo del Ponte\u201d Hospital, 21100 Varese, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra Greta","family":"Grassi","sequence":"additional","affiliation":[{"name":"Division of Paediatrics, Insubria University, \u201cFilippo del Ponte\u201d Hospital, 21100 Varese, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Simoncini","sequence":"additional","affiliation":[{"name":"Division of Paediatrics, Insubria University, \u201cFilippo del Ponte\u201d Hospital, 21100 Varese, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2520-9137","authenticated-orcid":false,"given":"Maddalena","family":"Marinoni","sequence":"additional","affiliation":[{"name":"Pediatric Onco-Haematology Unit, ASST-Settelaghi, \u201cFilippo del Ponte\u201d Hospital, 21100 Varese, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0151-1764","authenticated-orcid":false,"given":"Stefano","family":"Saran","sequence":"additional","affiliation":[{"name":"Department of Human Science and Innovation for the Territory, University of Insubria, 21100 Varese, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Agosti","sequence":"additional","affiliation":[{"name":"Division of Paediatrics, Insubria University, \u201cFilippo del Ponte\u201d Hospital, 21100 Varese, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5453-724X","authenticated-orcid":false,"given":"Luana","family":"Nosetti","sequence":"additional","affiliation":[{"name":"Division of Paediatrics, Insubria University, \u201cFilippo del Ponte\u201d Hospital, 21100 Varese, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,7,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/s41431-020-00748-y","article-title":"Estimation of the number of people with Down syndrome in Europe","volume":"29","author":"Buckley","year":"2021","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1001\/archotol.132.4.432","article-title":"Obstructive sleep apnea: Should all children with Down syndrome be tested?","volume":"132","author":"Shott","year":"2006","journal-title":"Arch. Otolaryngol. Head Neck Surg."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"343","DOI":"10.21037\/atm.2018.07.13","article-title":"Sleep-disordered breathing in paediatric setting: Existing and upcoming of the genetic disorders","volume":"6","author":"Zaffanello","year":"2018","journal-title":"Ann. Transl. Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1098","DOI":"10.1164\/ajrccm.157.4.9704080","article-title":"Blood pressure in children with obstructive sleep apnea","volume":"157","author":"Marcus","year":"1998","journal-title":"Am. J. Respir. Crit. Care Med."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1542\/peds.2012-1671","article-title":"Diagnosis and management of childhood obstructive sleep apnea syndrome","volume":"130","author":"Marcus","year":"2012","journal-title":"Pediatrics"},{"key":"ref_6","first-page":"239","article-title":"Causes of death to age 30 in Down syndrome","volume":"43","author":"Baird","year":"1988","journal-title":"Am. J. Hum. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"5607","DOI":"10.1007\/s00405-023-08237-w","article-title":"Analysis of possible risk factors for the severity of paediatric obstructive sleep apnoea syndrome","volume":"280","author":"Bikov","year":"2023","journal-title":"Eur. Arch. Otorhinolaryngol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"220026","DOI":"10.1183\/16000617.0026-2022","article-title":"Predictors of sleep disordered breathing in children with Down syndrome: A systematic review and meta-analysis","volume":"31","author":"Hanna","year":"2022","journal-title":"Eur. Respir. Rev."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.sleep.2016.10.001","article-title":"Prevalence and predictors of obstructive sleep apnoea in young children with Down syndrome","volume":"27\u201328","author":"Hill","year":"2016","journal-title":"Sleep Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1378\/chest.14-0266","article-title":"Sleep-disordered breathing in Down syndrome","volume":"147","author":"Lal","year":"2015","journal-title":"Chest"},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Borrelli, M., Corcione, A., Rongo, R., Cantone, E., Scala, I., Bruzzese, D., Martina, S., Strisciuglio, P., Michelotti, A., and Santamaria, F. (2022). Obstructive Sleep Apnoea in Children with Down Syndrome: A Multidisciplinary Approach. J. Pers. Med., 13.","DOI":"10.3390\/jpm13010071"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.smrv.2018.11.002","article-title":"Sleep and sleep disordered breathing in children with down syndrome: Effects on behaviour, neurocognition and the cardiovascular system","volume":"44","author":"Horne","year":"2019","journal-title":"Sleep Med. Rev."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"e1204","DOI":"10.1542\/peds.2015-1652","article-title":"Growth Charts for Children With Down Syndrome in the United States","volume":"136","author":"Zemel","year":"2015","journal-title":"Pediatrics"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1573","DOI":"10.5664\/jcsm.9922","article-title":"Twenty-Year Follow-up of Children with Obstructive Sleep Apnea","volume":"18","author":"Nosetti","year":"2022","journal-title":"J. Clin. Sleep Med."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"665","DOI":"10.5664\/jcsm.6576","article-title":"AASM Scoring Manual Updates for 2017 (Version 2.4)","volume":"13","author":"Berry","year":"2017","journal-title":"J. Clin. Sleep Med."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1007\/s00431-021-04267-w","article-title":"Obstructive sleep apnea in children with Down syndrome: Is it possible to predict severe apnea?","volume":"181","author":"Hizal","year":"2022","journal-title":"Eur. J. Pediatr."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1093\/sleep\/32.6.731","article-title":"Sleep disordered breathing in children in a general population sample: Prevalence and risk factors","volume":"32","author":"Bixler","year":"2009","journal-title":"Sleep"},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Vaienti, B., Di Blasio, M., Arcidiacono, L., Santagostini, A., Di Blasio, A., and Seg\u00f9, M. (2024). A narrative review on obstructive sleep apnoea syndrome in paediatric population. Front. Neurol., 15.","DOI":"10.3389\/fneur.2024.1393272"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1542\/peds.88.1.132","article-title":"Obstructive sleep apnea in children with Down syndrome","volume":"88","author":"Marcus","year":"1991","journal-title":"Pediatrics"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1046\/j.1365-2869.1997.00030.x","article-title":"Respiratory patterns during sleep in Down\u2019s syndrome:importance of central apnoeas","volume":"6","author":"Ferri","year":"1997","journal-title":"J. Sleep Res."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Fan, Z., Ahn, M., Roth, H.L., Li, L., and Vaughn, B.V. (2017). Sleep Apnea and Hypoventilation in Patients with Down Syndrome: Analysis of 144 Polysomnogram Studies. Children, 4.","DOI":"10.3390\/children4070055"},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Craven, V.E., Daw, W.J., Wan, J.W.Y., and Elphick, H.E. (2025). Respiratory and airway disorders in children with Down Syndrome: A review of the clinical challenges and management. Front. Pediatr., 13.","DOI":"10.3389\/fped.2025.1553984"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.sleep.2016.06.018","article-title":"Drug-induced sedation endoscopy in surgically naive children with Down syndrome and obstructive sleep apnea","volume":"24","author":"Maris","year":"2016","journal-title":"Sleep Med."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1080\/00016489.2018.1504169","article-title":"Does drug induced sleep endoscopy-directed surgery improve polysomnography measures in children with Down Syndrome and obstructive sleep apnea?","volume":"138","author":"Akkina","year":"2018","journal-title":"Acta Oto-Laryngol."},{"key":"ref_25","first-page":"e2016054","article-title":"Body Composition and BMI Growth Charts in Children with Down Syndrome","volume":"138","author":"Zemel","year":"2016","journal-title":"Pediatrics"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1542\/peds.2011-1605","article-title":"Health supervision for children with Down syndrome","volume":"128","author":"Bull","year":"2011","journal-title":"Pediatrics"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1177\/0009922819845333","article-title":"Obstructive Sleep Apnea in Children With Down Syndrome: Screening and Effect of Guidelines","volume":"58","author":"Hsieh","year":"2019","journal-title":"Clin. Pediatr."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.sleep.2020.10.003","article-title":"Findings of routine nocturnal polysomnography in children with Down syndrome: A retrospective cohort study","volume":"76","author":"Hurvitz","year":"2020","journal-title":"Sleep Med."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"109763","DOI":"10.1016\/j.ijporl.2019.109763","article-title":"The spectrum of obstructive sleep apnea in infants and children with Down Syndrome","volume":"129","author":"Waters","year":"2020","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Molinari, S., Fossati, C., Nicolosi, M.L., Di Marco, S., Faraguna, M.C., Limido, F., Ocello, L., Pellegrinelli, C., Lattuada, M., and Gazzarri, A. (2024). Endocrine, auxological and metabolic profile in children and adolescents with Down syndrome: From infancy to the first steps into adult life. Front. Endocrinol., 15.","DOI":"10.3389\/fendo.2024.1348397"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1136\/archdischild-2015-310351","article-title":"Outcome of adenotonsillectomy in children with Down syndrome and obstructive sleep apnoea","volume":"102","author":"Maris","year":"2017","journal-title":"Arch. Dis. Child."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"975","DOI":"10.5664\/jcsm.6698","article-title":"Success of Tonsillectomy for Obstructive Sleep Apnea in Children with Down Syndrome","volume":"13","author":"Ingram","year":"2017","journal-title":"J. Clin. Sleep Med."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1002\/lary.26398","article-title":"Adenotonsillectomy outcomes in patients with Down syndrome and obstructive sleep apnea","volume":"127","author":"Farhood","year":"2017","journal-title":"Laryngoscope"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"2213","DOI":"10.1007\/s11325-024-03085-2","article-title":"Adenotonsillectomy outcomes in children with down syndrome and obstructive sleep apnea: A single center study","volume":"28","author":"Senthilvel","year":"2024","journal-title":"Sleep Breath."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1007\/s00247-008-0941-7","article-title":"Relative rather than absolute macroglossia in patients with Down syndrome: Implications for treatment of obstructive sleep apnea","volume":"38","author":"Guimaraes","year":"2008","journal-title":"Pediatr. Radiol."},{"key":"ref_36","doi-asserted-by":"crossref","unstructured":"Kolstad, T.K., DelRosso, L.M., Tablizo, M.A., Witmans, M., Cho, Y., and Sobremonte-King, M. (2024). Sleep-Disordered Breathing and Associated Comorbidities among Preschool-Aged Children with Down Syndrome. Children, 11.","DOI":"10.3390\/children11060651"},{"key":"ref_37","doi-asserted-by":"crossref","unstructured":"Gastelum, E., Cummins, M., Singh, A., Montoya, M., Urbano, G.L., and Tablizo, M.A. (2021). Treatment Considerations for Obstructive Sleep Apnea in Pediatric Down Syndrome. Children, 8.","DOI":"10.3390\/children8111074"},{"key":"ref_38","doi-asserted-by":"crossref","unstructured":"Zaffanello, M., Pietrobelli, A., Nosetti, L., Ferrante, G., Rigotti, E., Ganzarolli, S., and Piacentini, G. (2025). Sleep-Disordered Breathing and Central Respiratory Control in Children: A Comprehensive Review. Children, 12.","DOI":"10.20944\/preprints202502.0870.v1"},{"key":"ref_39","doi-asserted-by":"crossref","unstructured":"Szeliga, K., Antosz, A., Skrzynska, K., Kalina-Faska, B., Januszek-Trzciakowska, A., and Gawlik, A. (2021). Subclinical Hypothyroidism as the Most Common Thyroid Dysfunction Status in Children with Down\u2019s Syndrome. Front. Endocrinol., 12.","DOI":"10.3389\/fendo.2021.782865"},{"key":"ref_40","doi-asserted-by":"crossref","unstructured":"Gorini, F., Coi, A., Pierini, A., Assanta, N., Bottoni, A., and Santoro, M. (2024). Hypothyroidism in Patients with Down Syndrome: Prevalence and Association with Congenital Heart Defects. Children, 11.","DOI":"10.3390\/children11050513"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"e2022058771","DOI":"10.1542\/peds.2022-058771","article-title":"Sleep Apnea in Children with Down Syndrome","volume":"151","author":"Seither","year":"2023","journal-title":"Pediatrics"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.jpeds.2014.02.032","article-title":"Screening for obstructive sleep apnea in children with Down syndrome","volume":"165","author":"Lin","year":"2014","journal-title":"J. Pediatr."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1111\/dmcn.12376","article-title":"Obstructive sleep apnea syndrome and cognition in Down syndrome","volume":"56","author":"Breslin","year":"2014","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1007\/s11325-014-0992-y","article-title":"Relationship between sleep, sleep apnea, and neuropsychological function in children with Down syndrome","volume":"19","author":"Brooks","year":"2015","journal-title":"Sleep Breath."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/s40119-021-00251-5","article-title":"Pulmonary Hypertension in the Population with Down Syndrome","volume":"11","author":"Bush","year":"2022","journal-title":"Cardiol. Ther."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.jpeds.2022.08.027","article-title":"Pulmonary Hypertension in Children with Down Syndrome: Results from the Pediatric Pulmonary Hypertension Network Registry","volume":"252","author":"Hopper","year":"2023","journal-title":"J. Pediatr."},{"key":"ref_47","first-page":"33","article-title":"Obstructive Sleep Apnea and Pulmonary Hypertension in Children","volume":"23","author":"Ingram","year":"2017","journal-title":"Paediatr. Respir. Rev."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1007\/s11325-025-03280-9","article-title":"Sleep apnea in pulmonary hypertension patients: A systematic review and meta-analysis sleep disorders and pulmonary hypertension","volume":"29","author":"Akbari","year":"2025","journal-title":"Sleep Breath."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/S0022-3476(81)80716-0","article-title":"Sleep apnea as a possible cause of pulmonary hypertension in Down syndrome","volume":"98","author":"Loughlin","year":"1981","journal-title":"J. Pediatr."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1177\/0194599817703921","article-title":"The Efficacy of Adenotonsillectomy for Obstructive Sleep Apnea in Children with Down Syndrome: A Systematic Review","volume":"157","author":"Nation","year":"2017","journal-title":"Otolaryngol. Head Neck Surg."},{"key":"ref_51","doi-asserted-by":"crossref","unstructured":"Belleri, P., Mazzuca, G., Pietrobelli, A., Zampieri, N., Piacentini, G., Zaffanello, M., and Pecoraro, L. (2024). The Role of Diet and Physical Activity in Obesity and Overweight in Children with Down Syndrome in Developed Countries. Children, 11.","DOI":"10.3390\/children11091056"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"61","DOI":"10.5665\/sleep.4326","article-title":"Relationship between sleep disturbance and functional outcomes in daily life habits of children with Down syndrome","volume":"38","author":"Churchill","year":"2015","journal-title":"Sleep"},{"key":"ref_53","doi-asserted-by":"crossref","unstructured":"Esbensen, A.J., Schworer, E.K., Hoffman, E.K., and Wiley, S. (2021). Child Sleep Linked to Child and Family Functioning in Children with Down Syndrome. Brain Sci., 11.","DOI":"10.3390\/brainsci11091170"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1785","DOI":"10.5664\/jcsm.8630","article-title":"The impact of sleep problems on functional and cognitive outcomes in children with Down syndrome: A review of the literature","volume":"16","author":"Chawla","year":"2020","journal-title":"J. Clin. Sleep Med."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/15\/14\/5581\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T09:39:11Z","timestamp":1784194751000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/15\/14\/5581"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,16]]},"references-count":54,"journal-issue":{"issue":"14","published-online":{"date-parts":[[2026,7]]}},"alternative-id":["jcm15145581"],"URL":"https:\/\/doi.org\/10.3390\/jcm15145581","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,16]]}}}