Department of Pathology and Laboratory Medicine, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.
Al Jalila Genomics Center, Al Jalila Children's Specialty Hospital, Mohammed Bin Rashid University, Dubai, United Arab Emirates.
Genet Med. 2022 Jul;24(7):1392-1406. doi: 10.1016/j.gim.2022.03.018. Epub 2022 May 10.
Hearing loss is a common and complex condition that can occur at any age, can be inherited or acquired, and is associated with a remarkably wide array of etiologies. The diverse causes of hearing loss, combined with the highly variable and often overlapping presentations of different forms of hearing loss, challenge the ability of traditional clinical evaluations to arrive at an etiologic diagnosis for many deaf and hard-of-hearing individuals. However, identifying the etiology of hearing loss may affect clinical management, improve prognostic accuracy, and refine genetic counseling and assessment of the likelihood of recurrence for relatives of deaf and hard-of-hearing individuals. Linguistic and cultural identities associated with being deaf or hard-of-hearing can complicate access to and the effectiveness of clinical care. These concerns can be minimized when genetic and other health care services are provided in a linguistically and culturally sensitive manner. This clinical practice resource offers information about the frequency, causes, and presentations of hearing loss and suggests approaches to the clinical and genetic evaluation of deaf and hard-of-hearing individuals aimed at identifying an etiologic diagnosis and providing informative and effective patient education and genetic counseling.
听力损失是一种常见且复杂的病症，可发生于任何年龄，可遗传或获得，与多种病因相关。听力损失的病因多种多样，不同类型的听力损失表现也高度可变且常常重叠，这给传统的临床评估能否为许多聋人和重听人士确定病因诊断带来了挑战。然而，确定听力损失的病因可能会影响临床管理，提高预后准确性，并细化遗传咨询和聋人和重听人士亲属复发可能性的评估。与聋或重听相关的语言和文化身份可能会影响获得和接受临床护理的机会。当以语言和文化敏感的方式提供遗传和其他医疗保健服务时，这些问题可以最小化。本临床实践资源提供了有关听力损失的频率、病因和表现的信息，并提出了针对聋人和重听人士的临床和遗传评估方法，旨在确定病因诊断，并提供有信息和有效的患者教育和遗传咨询。
