METHODS: A Google form with 24 questions in English covering the ANSD clinical pathway was developed with clinicians involved in the diagnosis and management ANSD. The survey was disseminated via email to all Lead clinicians of NHS Tertiary Paediatric Audiology and Cochlear Implant Services within the UK.
RESULTS: Data was received from 27 (34 %) NHS Tertiary Paediatric Audiology Services and 8 (n = 57 %) Paediatric Cochlear Implant Services. Services follow existing national guidance and provide multidisciplinary care with structured patient pathways for referral, diagnosis, and management of children with ANSD and multidisciplinary input throughout. Clinicians are aware of the genetic causes of ANSD and new processes for genetic testing, but do not uniformly refer children with ANSD for testing for OTOF pathogenic variants. As such, they had difficulty estimating numbers of children with OTOF pathogenic variants under their care.
CONCLUSIONS: Those results highlight the urgency of implementing hearing gene panel sequencing for all children with ANSD to provide opportunities for early diagnosis and candidacy for OTOF gene therapy trials.
方法:由参与ANSD诊断和管理的临床医生开发了包含24个英文问题的Google表格。该调查通过电子邮件分发给英国NHS三级儿科听力学和耳蜗植入服务的所有首席临床医生。
结果:数据来自27(34%)NHS三级儿科听力学服务和8(n=57%)儿科耳蜗植入服务。服务遵循现有的国家指南,并通过结构化的患者转诊路径提供多学科护理,诊断,以及对患有ANSD和多学科投入的儿童的管理。临床医生意识到ANSD的遗传原因和基因检测的新过程,但不要统一推荐患有ANSD的儿童进行OTOF致病变异的检测.因此,他们很难估计在他们护理下患有OTOF致病变异的儿童的数量.
结论:这些结果强调了对所有ANSD儿童实施听力基因小组测序的紧迫性,为OTOF基因治疗试验的早期诊断和候选提供机会。