Accelerating the genetic diagnosis of neurological disorders presenting with episodic apnoea in infancy
Accelerating the genetic diagnosis of neurological disorders presenting with episodic apnoea in infancy
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DOI：
10.1016/s2352-4642(22)00091-8
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发表时间：
2022-06-15
影响因子：
36.4
通讯作者：
Matthews，Emma
中科院分区：
文献类型：
--
作者：
Silksmith，Bryony;Munot，Pinki;Matthews，Emma
婴儿（年龄≤1岁）的不明原因的阵发性呼吸暂停，包括反复发作的短暂（<1分钟）已消退的不明原因事件（称为BRUE），可能是诊断的挑战。反复发作的不明原因的呼吸暂停可能提示一种持续的、使人衰弱的和潜在致命的疾病。遗传性疾病在这一群体中普遍存在，特别是在那些出现阵发性或偶发性神经系统症状的人中。这些疾病是个别罕见的，对普通儿科医生来说很难识别，而且往往会延迟甚至是死后诊断（有时只有在第二个兄弟姐妹生病时才能回顾）。如果不治疗，这些疾病可能会使人衰弱，但绝大多数人都可以使用药物治疗。任何儿童在没有得到诊断或治疗的情况下患上不必要的疾病或死于这些疾病之一，这是一个悲剧;因此，迫切需要简化和加快诊断过程。我们建议为医院的专家提供一个呼吸暂停基因小组，以照顾任何没有明显原因的反复呼吸暂停的婴儿。这种方法可以消除识别个体罕见疾病的需要，加快诊断速度，并改善治疗的可及性，最终目标是降低发病率和死亡率。
Unexplained episodic apnoea in infants (aged ≤1 year), including recurrent brief (<1 min) resolved unexplained events (known as BRUE), can be a diagnostic challenge. Recurrent unexplained apnoea might suggest a persistent, debilitating, and potentially fatal disorder. Genetic diseases are prevalent among this group, particularly in those who present with paroxysmal or episodic neurological symptoms. These disorders are individually rare and challenging for a general paediatrician to recognise, and there is often a delayed or even posthumous diagnosis (sometimes only made in retrospect when a second sibling becomes unwell). The disorders can be debilitating if untreated but pharmacotherapies are available for the vast majority. That any child should suffer from unnecessary morbidity or die from one of these disorders without a diagnosis or treatment having been offered is a tragedy; therefore, there is an urgent need to simplify and expedite the diagnostic journey. We propose an apnoea gene panel for hospital specialists caring for any infant who has recurrent apnoea without an obvious cause. This approach could remove the need to identify individual rare conditions, speed up diagnosis, and improve access to therapy, with the ultimate aim of reducing morbidity and mortality.