Borrelli Melissa, Terrone Gaetano, Evangelisti Roberto, Fedele Flora, Corcione Adele, Santamaria Francesca
Department of Translational Medical Sciences, Pediatric Pulmonology, Italy.
Department of Translational Medical Sciences, Child Neuropsychiatry Units, Federico II University, Naples, Italy.
Pediatr Neonatol. 2023 Mar;64(2):109-118. doi: 10.1016/j.pedneo.2022.09.016. Epub 2023 Jan 3.
Neuromuscular disease (NMDs) encompass a heterogeneous group of genetic disorders, with respiratory problems of variable intensity and progression described at any pediatric age, from infancy to adolescence, and they are largely associated with significant lifelong morbidity and high mortality. Restriction of breathing, impaired gas exchange, decline of lung function and sleep disordered breathing progressively develop because of muscular weakness and culminate in respiratory failure. Depending on the disease progression, airways manifestations can take weeks to months or even years to evolve, thus depicting two major respiratory phenotypes, characterized by rapid or slow progression to respiratory failure. Assessing type and age at onset of airways problems and their evolution over time can support pediatricians in the diagnostic assessment of NMD. In addition, knowing the characteristics of patients' respiratory phenotype can increase the level of awareness among neonatologists, geneticists, neurologists, pulmonologists, nutritionists, and chest therapists, supporting them in the challenging task of the multidisciplinary medical care of patients. In this review we examine the issues related to the pediatric respiratory phenotypes of NMD and present a novel algorithm that can act as a guide for the diagnostic agenda and the key preventive or therapeutic interventions of airways manifestations. With prolonged survival of children with NMD, the advent of neuromuscular respiratory medicine, including accurate assessment of the respiratory phenotype, will help physicians to determine patients' prognoses and to design studies for the evaluation of new therapies.
神经肌肉疾病（NMDs）是一组异质性的遗传性疾病，在从婴儿期到青春期的任何儿童年龄段均有不同程度和进展的呼吸问题描述，并且它们在很大程度上与严重的终身发病和高死亡率相关。由于肌肉无力，呼吸受限、气体交换受损、肺功能下降和睡眠呼吸障碍会逐渐发展，并最终导致呼吸衰竭。根据疾病进展情况，气道表现可能需要数周、数月甚至数年才会显现，从而呈现出两种主要的呼吸表型，其特征为呼吸衰竭进展迅速或缓慢。评估气道问题的类型、发病年龄及其随时间的演变可以帮助儿科医生对NMD进行诊断评估。此外，了解患者呼吸表型的特征可以提高新生儿科医生、遗传学家、神经科医生、肺科医生、营养师和胸部治疗师的认知水平，支持他们完成对患者进行多学科医疗护理这一具有挑战性的任务。在本综述中，我们研究了与NMD的儿科呼吸表型相关的问题，并提出了一种新颖的算法，该算法可作为诊断议程以及气道表现的关键预防或治疗干预措施的指南。随着NMD患儿生存期的延长，神经肌肉呼吸医学的出现，包括对呼吸表型的准确评估，将有助于医生确定患者的预后，并设计评估新疗法的研究。
