Audiological profile of individuals with Cornelia de Lange syndrome: an integrative review

ABSTRACT Purpose: to describe the audiological profile of patients with Cornelia de Lange syndrome (CdLS) in an integrative review of the literature. Methods: after developing the research question, articles were searched in six databases (EMBASE, ISI of Knowledge, LILACS, MEDLINE/PubMed, SciELO, and Scopus) and in sources of information (Google Scholar, OpenGrey, and ProQuest), with the following descriptors: audiology, hearing loss, deafness, hearing disorders, and Cornelia de Lange syndrome. This review was registered in Prospero under number CRD42020191481. National and international studies were considered for analysis, using the PECO acronym. The risk of bias in the studies was analyzed with Joanna Briggs Institute protocols. Then, the studies were described and analyzed. Results: of the 1,080 articles found, 12 met the inclusion criteria. Audiological results showed that individuals with CdLS can have hearing loss - conductive hearing losses were the most frequent impairments, corresponding to 49.20% of individuals with CdLS assessed, followed by sensorineural hearing losses (13.49%). The degrees of hearing loss ranged from mild to profound. Conclusion: individuals presented with CdLS often have hearing loss, mainly due to middle ear changes, with degrees ranging from mild to profound.摘要 目的：本研究旨在通过文献综合回顾，描述科妮莉亚·德·朗格综合征（Cornelia de Lange Syndrome, CdLS）患者的听力学特征。 方法：确立研究问题后，本研究于6个数据库（EMBASE、ISI知识数据库、LILACS、MEDLINE/PubMed、SciELO及Scopus）及谷歌学术（Google Scholar）、OpenGrey、ProQuest等信息源中检索文献，检索词包括：听力学（audiology）、听力损失（hearing loss）、耳聋（deafness）、听力障碍（hearing disorders）及科妮莉亚·德·朗格综合征（Cornelia de Lange Syndrome, CdLS）。本综述已在国际系统评价前瞻注册平台Prospero注册，注册编号为CRD42020191481。本研究纳入国内外相关研究进行分析，采用PECO准则（Population、Exposure、Comparison、Outcome四大要素框架）进行文献筛选。采用乔安娜·布里格斯研究所（Joanna Briggs Institute）的偏倚风险评估方案对纳入研究的偏倚风险进行分析，随后对纳入文献进行描述与综合分析。 结果：初检共获取1080篇文献，其中12篇符合纳入标准。听力学分析结果显示，科妮莉亚·德·朗格综合征患者可出现听力损失：传导性听力损失为最常见的听力损害类型，占评估患者的49.20%；其次为感音神经性听力损失（13.49%）。听力损失程度涵盖轻度至极重度。 结论：科妮莉亚·德·朗格综合征患者常出现听力损失，其主要病因多为中耳病变，听力损失程度从轻度至极重度不等。