Rovira-Moreno Eulàlia, Abulí Anna, Muñoz-Cabello Patricia, Codina-Solà Marta, Baillès Eva, de Lemus Mencía, Darras Basil T, Tizzano Eduardo F
Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, University Hospital Vall d'Hebron, Barcelona, Spain.
Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516].
Genet Med Open. 2023 Jul 5;1(1):100825. doi: 10.1016/j.gimo.2023.100825. eCollection 2023.
Spinal muscular atrophy (SMA) is a prevalent severe genetic condition that follows an autosomal recessive inheritance pattern. Over the last decade, advances in innovative therapies have improved the course of the disease for many patients. There is evidence that early diagnosis and therapeutic intervention contribute toward better outcomes for these patients. The implementation of SMA newborn screening allows presymptomatic diagnosis leading to new communication scenarios, which poses opportunities and challenges when discussing possible treatment and evolution with families. Communication skills are essential to transmit accurate and comprehensive information to promote better coping and facilitate shared treatment decisions considering patient, family, and physicians' points of view. The role of professionals is increasing as patients live longer and present evolving phenotypes. Therefore, multidisciplinary follow-up has emerged as an essential component of the standard of care protocol for patients with SMA. On the other hand, issues regarding communication of the diagnosis to a new patient still deserve a thorough discussion to better accommodate the complexity of the different situations. We present this review as a cross-cutting perspective involving health care practitioners, genetic counselors, psychologists, and caregivers to further elaborate and guide the communication process of an SMA diagnosis under several settings.
脊髓性肌萎缩症（SMA）是一种常见的严重遗传性疾病，遵循常染色体隐性遗传模式。在过去十年中，创新疗法的进展改善了许多患者的疾病进程。有证据表明，早期诊断和治疗干预有助于这些患者获得更好的治疗结果。SMA新生儿筛查的实施使得能够进行症状前诊断，从而带来了新的沟通场景，在与家庭讨论可能的治疗和病情发展时，这既带来了机遇，也带来了挑战。沟通技巧对于传递准确和全面的信息至关重要，以便促进更好的应对，并从患者、家庭和医生的角度促进共同的治疗决策。随着患者寿命延长且出现不断演变的表型，专业人员的作用日益重要。因此，多学科随访已成为SMA患者护理标准方案的重要组成部分。另一方面，关于向新患者传达诊断结果的问题仍值得深入讨论，以便更好地应对不同情况的复杂性。我们作为一个跨领域的视角呈现这篇综述，涉及医疗保健从业者、遗传咨询师、心理学家和护理人员，以进一步阐述并指导在多种情况下SMA诊断的沟通流程。
