Respiratory phenotypes of neuromuscular diseases: A challenging issue for pediatricians
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. Rest...
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Elsevier
2023-03-01
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| Series: | Pediatrics and Neonatology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1875957222002728 |
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| author | Melissa Borrelli Gaetano Terrone Roberto Evangelisti Flora Fedele Adele Corcione Francesca Santamaria |
| author_facet | Melissa Borrelli Gaetano Terrone Roberto Evangelisti Flora Fedele Adele Corcione Francesca Santamaria |
| author_sort | Melissa Borrelli |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-f4bdfea8bf7840e3a60f5a7f4e9ae9f1 |
| institution | OA Journals |
| issn | 1875-9572 |
| language | English |
| publishDate | 2023-03-01 |
| publisher | Elsevier |
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| series | Pediatrics and Neonatology |
| spelling | doaj-art-f4bdfea8bf7840e3a60f5a7f4e9ae9f12025-08-20T02:22:10ZengElsevierPediatrics and Neonatology1875-95722023-03-0164210911810.1016/j.pedneo.2022.09.016Respiratory phenotypes of neuromuscular diseases: A challenging issue for pediatriciansMelissa Borrelli0Gaetano Terrone1Roberto Evangelisti2Flora Fedele3Adele Corcione4Francesca Santamaria5Department of Translational Medical Sciences, Pediatric Pulmonology, ItalyDepartment of Translational Medical Sciences, Child Neuropsychiatry Units, Federico II University, Naples, ItalyDepartment of Translational Medical Sciences, Pediatric Pulmonology, ItalyDepartment of Translational Medical Sciences, Pediatric Pulmonology, ItalyDepartment of Translational Medical Sciences, Pediatric Pulmonology, ItalyDepartment of Translational Medical Sciences, Pediatric Pulmonology, Italy; Corresponding author. Federico II University, Naples, Italy.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.http://www.sciencedirect.com/science/article/pii/S1875957222002728neuromuscular diseasesrespiratory failurerespiratory muscles weaknessrespiratory phenotypesleepdisordered breathing |
| spellingShingle | Melissa Borrelli Gaetano Terrone Roberto Evangelisti Flora Fedele Adele Corcione Francesca Santamaria Respiratory phenotypes of neuromuscular diseases: A challenging issue for pediatricians Pediatrics and Neonatology neuromuscular diseases respiratory failure respiratory muscles weakness respiratory phenotype sleepdisordered breathing |
| title | Respiratory phenotypes of neuromuscular diseases: A challenging issue for pediatricians |
| title_full | Respiratory phenotypes of neuromuscular diseases: A challenging issue for pediatricians |
| title_fullStr | Respiratory phenotypes of neuromuscular diseases: A challenging issue for pediatricians |
| title_full_unstemmed | Respiratory phenotypes of neuromuscular diseases: A challenging issue for pediatricians |
| title_short | Respiratory phenotypes of neuromuscular diseases: A challenging issue for pediatricians |
| title_sort | respiratory phenotypes of neuromuscular diseases a challenging issue for pediatricians |
| topic | neuromuscular diseases respiratory failure respiratory muscles weakness respiratory phenotype sleepdisordered breathing |
| url | http://www.sciencedirect.com/science/article/pii/S1875957222002728 |
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