Italian survey on evolving SMA care with disease-modifying therapies: a consensus workshop on nutrition, swallowing, respiratory and rehabilitation care.

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Tác giả: Ilaria Bitetti, Noemi Brolatti, Giorgia Coratti, Stefania Corti, Giulio Gadaleta, Eugenio Mercuri, Agata Katia Patanella, Valeria Sansone

Ngôn ngữ: eng

Ký hiệu phân loại: 809.008 History and description with respect to kinds of persons

Thông tin xuất bản: England : Neuromuscular disorders : NMD , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 716757

The landscape of spinal muscular atrophy care is evolving with the emergence of disease-modifying therapies and newborn screening programs, leading to new phenotypes and changing patient needs. This necessitates a reevaluation of existing care recommendations to address new challenges and opportunities in spinal muscular atrophy management. To better evaluate how different areas of care have evolved since the advent of disease-modifying therapies, we focused on highlighting areas where existing practices remain valid, those in which changes are needed and supported by evidence, and those in which further research or experience is required. The initiative brought together experts from the Italian spinal muscular atrophy community, initially involving a survey of care practices and a two-day event with workshops on specific topics. The results of the survey and focus groups provide the experts' opinions of the changing aspects of care for key domains: nutrition and bone health, swallowing, respiratory function, and rehabilitation and management of spine deformities. Suggestions were provided, identifying immediate actionable changes and areas requiring further investigation. This framework represents an initial step towards updating care recommendations in the era of novel therapies. It offers a critical view of the evolving care landscape, balancing established practices with emerging evidence and identifying key areas for future research.
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