Shearer A Eliot
Department of Otolaryngology Head and Neck Surgery, Harvard Medical School.
Boston Children's Hospital, Department of Otolaryngology & Communication Enhancement, Boston, Massachusetts, USA.
Curr Opin Otolaryngol Head Neck Surg. 2024 Oct 1;32(5):352-356. doi: 10.1097/MOO.0000000000001005. Epub 2024 Aug 6.
To summarize indications, methods, and diagnostic yields for genetic testing for pediatric hearing loss.
Genetic testing has become a cornerstone of clinical care for children with sensorineural hearing loss. Recent studies have shown the efficacy of gene panels and exome sequencing for any child with sensorineural hearing loss. Recent findings have underscored the importance of a diagnosis in clinical care. Clinical trials for gene therapy for hearing loss have begun.
Genetic testing has become critical for personalized care for children with hearing loss. Recent studies have shown a 43% overall diagnostic yield for genetic testing for pediatric hearing loss, though the diagnostic yield may range from 10 to 60% depending on clinical features. Syndromic diagnoses comprise 25% of positive genetic tests for pediatric sensorineural hearing loss. While diagnostic yield is lower for children with unilateral or asymmetric sensorineural hearing loss, the likelihood of syndromic hearing loss finding is higher. An early and accurate genetic diagnosis is required for participating in clinical trials for gene therapy for hearing loss.
总结儿童听力损失基因检测的适应症、方法及诊断率。
基因检测已成为感音神经性听力损失儿童临床护理的基石。近期研究表明，基因组合和外显子组测序对任何感音神经性听力损失儿童均有效。最新发现强调了诊断在临床护理中的重要性。听力损失基因治疗的临床试验已经开始。
基因检测对听力损失儿童的个性化护理至关重要。近期研究表明，儿童听力损失基因检测的总体诊断率为43%，不过根据临床特征，诊断率可能在10%至60%之间。综合征性诊断占儿童感音神经性听力损失基因检测阳性结果的25%。虽然单侧或不对称感音神经性听力损失儿童的诊断率较低，但发现综合征性听力损失的可能性较高。参与听力损失基因治疗的临床试验需要早期准确的基因诊断。
