Children's Health Queensland Hospital and Health Service, South Brisbane, Australia.
School of Health and Rehabilitation Sciences, The University of Queensland, Brisbane, Australia.
J Speech Lang Hear Res. 2021 Sep 14;64(9):3594-3602. doi: 10.1044/2021_JSLHR-20-00699. Epub 2021 Aug 17.
Purpose The current Joint Committee on Infant Hearing guidelines recommend that infants with syndromes or craniofacial abnormalities (CFAs) who pass the universal newborn hearing screening (UNHS) undergo audiological assessment by 9 months of age. However, emerging research suggests that children with these risk factors are at increased risk of early hearing loss despite passing UNHS. To establish whether earlier diagnostic audiological assessment is warranted for all infants with a syndrome or CFA, regardless of screening outcome, this study compared audiological outcomes of those who passed UNHS and those who referred. Method A retrospective analysis was performed on infants with a syndrome or CFA born between July 1, 2012, and June 30, 2017 who participated in Queensland, Australia's state-wide UNHS program. Results Permanent childhood hearing loss (PCHL) yield was higher among infants who referred on newborn hearing screening (51.20%) than in those who passed. Nonetheless, 27.47% of infants who passed were subsequently diagnosed with hearing loss (4.45% PCHL, 23.02% transient conductive), but PCHL was generally milder in this cohort. After microtia/atresia, the most common PCHL etiologies were Trisomy 21, other syndromes, and cleft palate. Of the other syndromes, Pierre Robin sequence featured prominently among infants who passed the hearing screen and were subsequently diagnosed with PCHL, whereas there was a broader mix of other syndromes that caused PCHL in infants who referred on screening. Conclusion Children identified with a syndrome or CFA benefit from early diagnostic audiological assessment, regardless of their newborn hearing screening outcome.
目前，婴儿听力联合委员会的指南建议，通过普遍新生儿听力筛查（UNHS）的综合征或颅面畸形（CFAs）婴儿应在 9 个月大时进行听力评估。然而，新的研究表明，尽管通过了 UNHS，具有这些危险因素的儿童仍有早期听力损失的风险增加。为了确定所有患有综合征或 CFA 的婴儿是否需要更早地进行诊断性听力评估，而不论筛查结果如何，本研究比较了通过 UNHS 和转诊的婴儿的听力结果。
对 2012 年 7 月 1 日至 2017 年 6 月 30 日期间在澳大利亚昆士兰州参加全州性 UNHS 计划的患有综合征或 CFA 的婴儿进行了回顾性分析。
在新生儿听力筛查时转诊的婴儿中，永久性儿童听力损失（PCHL）的发生率（51.20%）高于通过的婴儿。尽管如此，仍有 27.47%通过的婴儿随后被诊断出听力损失（4.45% PCHL，23.02% 为传导性听力损失），但在该队列中 PCHL 通常较轻。在小耳/无耳畸形之后，最常见的 PCHL 病因是 21 三体、其他综合征和腭裂。在其他综合征中，Pierre Robin 序列在通过听力筛查且随后被诊断为 PCHL 的婴儿中更为突出，而在因筛查而转诊的婴儿中导致 PCHL 的其他综合征种类更为广泛。
患有综合征或 CFA 的儿童无论新生儿听力筛查结果如何，均受益于早期诊断性听力评估。
