Kaipa Ramesh, Tether Hannah
Department of Communication Sciences and Disorders, Oklahoma State University, United States.
J Otol. 2017 Jun;12(2):86-96. doi: 10.1016/j.joto.2017.03.001. Epub 2017 Mar 21.
Alport syndrome is an X-linked syndrome that results in nephritis, renal failure, sensorineural hearing loss, and eye deficits. As a result of sensorineural hearing loss, these individuals are likely to experience difficulties in the area of speech and language. While studies in the past have examined the speech and language characteristics of children with syndromic sensorineural hearing loss, to our knowledge there are no previous studies to have documented the speech and language characteristics of these children on a long-term basis. The current study addresses this limitation by reporting speech, language, hearing, and function of twin brothers with X-linked Alport syndrome across a seven-year period. Information was collected by examining the medical records of the participants as well as through a verbal interview with the participants' guardian. Results revealed that the participants' hearing abilities gradually deteriorated over the seven-year period which affected their speech and language development as well. The kidney function tests revealed significant presence of hematuria (blood in the urine) as well as proteinuria (protein in the urine) suggesting chronic kidney dysfunction. This longitudinal study demonstrates the functional relationship between the kidneys and the cochlea, although they appear to be independent of one another. As individuals with Alport syndrome exhibit systemic complications, interdisciplinary collaboration is essential among health care providers including audiologists, speech-language pathologists, nephrologists, and ophthalmologist to promote evidence-based practice.
奥尔波特综合征是一种X连锁综合征，可导致肾炎、肾衰竭、感音神经性听力损失和眼部缺陷。由于感音神经性听力损失，这些个体可能在言语和语言方面遇到困难。虽然过去的研究已经考察了患有综合征性感音神经性听力损失儿童的言语和语言特征，但据我们所知，以前没有研究长期记录这些儿童的言语和语言特征。本研究通过报告一对患有X连锁奥尔波特综合征的双胞胎兄弟在七年期间的言语、语言、听力和功能情况，解决了这一局限性。通过检查参与者的病历以及与参与者监护人进行口头访谈来收集信息。结果显示，参与者的听力能力在七年期间逐渐恶化，这也影响了他们的言语和语言发展。肾功能测试显示存在明显的血尿（尿液中的血液）以及蛋白尿（尿液中的蛋白质），提示慢性肾功能障碍。这项纵向研究证明了肾脏和耳蜗之间的功能关系，尽管它们似乎彼此独立。由于患有奥尔波特综合征的个体表现出全身性并发症，包括听力学家、言语语言病理学家、肾病学家和眼科医生在内的医疗保健提供者之间的跨学科合作对于促进循证实践至关重要。
