{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T02:18:55Z","timestamp":1790302735108,"version":"4.1.0"},"reference-count":17,"publisher":"Ordem dos Medicos","issue":"5","license":[{"start":{"date-parts":[[2023,2,17]],"date-time":"2023-02-17T00:00:00Z","timestamp":1676592000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Med Port"],"abstract":"<jats:p>Introduction: Genetic causes are responsible for half of the cases of hearing loss, most of them being the result of non-syndromic genetic changes resulting from autosomal recessive inheritance. Parental consanguinity might be an indicator to consider in the diagnosis of these cases. The aim of this study was to assess its importance as a risk factor for childhood hearing loss.Material and Methods: A retrospective cohort study conducted in a district hospital, between 2014 and 2018. We included all live births born during this period and excluded those with risk factors for childhood hearing loss other than parental consanguinity and those without hearing screening. We formed two study groups: newborns with parental consanguinity and newborns without risk factors. All the participants underwent hearing screening with the primary outcome of this study being the result of the screening. Those with a not normal result or with parental consanguinity also underwent diagnostic audiological evaluation.Results: Among 8513 live births, we studied 96 newborns with first-degree parental consanguinity and 96 newborns without risk factors. We found a statistically significant difference (p = 0.007) between the groups, with a \u2018refer\u2019 screening result rate of 24% in the group with parental consanguinity and 9.4% in the group without risk factors. We diagnosed one case of sensorineural hearing loss and another of mixed hearing loss in the first group andnone of these cases in the second.Conclusion: Parental consanguinity was associated with a higher risk of a refer screening result in newborns, which suggests the need to consider this as a risk factor for childhood hearing loss.<\/jats:p>","DOI":"10.20344\/amp.18607","type":"journal-article","created":{"date-parts":[[2023,2,17]],"date-time":"2023-02-17T13:33:38Z","timestamp":1676640818000},"page":"336-342","source":"Crossref","is-referenced-by-count":3,"title":["Parental Consanguinity and Risk for Childhood Hearing Loss: A Retrospective Cohort Study"],"prefix":"10.20344","volume":"36","author":[{"given":"B\u00e1rbara","family":"Leal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Cristina","family":"Lopes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Peixoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Correia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Miguel","family":"Almiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00e3o","family":"Vilar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Lu\u00edsa","family":"Azevedo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Adelaide","family":"Bicho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"8464","published-online":{"date-parts":[[2023,2,17]]},"reference":[{"key":"2360","unstructured":"Flint PW, Francis HW, Haughey BH, Lesperance MM, Lund VJ, Robbins HT, et al. Cummings otolaryngology head and neck surgery. 7th ed. Amsterdam:Elsevier; 2010."},{"key":"2361","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215108002235"},{"key":"2362","doi-asserted-by":"publisher","DOI":"10.5144\/0256-4947.2020.456"},{"key":"2363","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2004.10.004"},{"key":"2364","doi-asserted-by":"publisher","DOI":"10.1258\/00222150260293628"},{"key":"2365","unstructured":"Mendes M, Magano O, Candeias P. Estudo Nacional sobre as Comunidades Ciganas. Lisboa: Alto Comissariado para as Migra\u00e7\u00f5es; 2014."},{"key":"2366","unstructured":"Grupo de Rastreio e Interven\u00e7\u00e3o da Surdez Infantil. Recomenda\u00e7\u00f5es para o Rastreio Auditivo Neonatal Universal (RANU). Acta Pediatr Port. 2007;38:209-14."},{"key":"2367","unstructured":"The Joint Committee on Infant Hearing. Year 2019 position statement: principles and guidelines for early hearing detection and intervention programs. J Early Hear Detect Interv. 2019;4:1\u201344."},{"key":"2368","unstructured":"Dire\u00e7\u00e3o-Geral da Sa\u00fade. Rastreio e tratamento da surdez com implantes cocleares em idade pedi\u00e1trica. Lisboa: DGS; 2017."},{"key":"2369","doi-asserted-by":"publisher","DOI":"10.1007\/s12070-017-1230-2"},{"key":"2370","doi-asserted-by":"publisher","DOI":"10.1080\/14992020701703539"},{"key":"2371","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-4486.2009.01888.x"},{"key":"2372","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-015-0479-4"},{"key":"2373","doi-asserted-by":"publisher","DOI":"10.7860\/JCDR\/2017\/25837.10238"},{"key":"2374","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2011-3179"},{"key":"2375","doi-asserted-by":"publisher","DOI":"10.5152\/tao.2019.3940"},{"key":"2376","doi-asserted-by":"publisher","DOI":"10.5812\/ircmj.22038"}],"container-title":["Acta M\u00e9dica Portuguesa"],"original-title":[],"link":[{"URL":"https:\/\/www.actamedicaportuguesa.com\/revista\/index.php\/amp\/article\/download\/18607\/15046","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.actamedicaportuguesa.com\/revista\/index.php\/amp\/article\/download\/18607\/15046","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,17]],"date-time":"2025-04-17T14:28:58Z","timestamp":1744900138000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.actamedicaportuguesa.com\/revista\/index.php\/amp\/article\/view\/18607"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,17]]},"references-count":17,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2023,5,2]]}},"URL":"https:\/\/doi.org\/10.20344\/amp.18607","relation":{},"ISSN":["1646-0758","0870-399X"],"issn-type":[{"value":"1646-0758","type":"electronic"},{"value":"0870-399X","type":"print"}],"subject":[],"published":{"date-parts":[[2023,2,17]]}}}