Introduction The trinomial relationship between physicians/children/guardians is essential in the process of communicating a disease and its prognosis. Objective Analyzing the exercise of autonomy by this trinomial relationship in communicating the diagnosis of spinal muscular atrophy (SMA).   Methodology Caregivers of SMA patients answered a questionnaire containing a structured interview and the Event Impact Scale – Revised. Results The sample comprised 50 volunteers, 94% of whom were female caregivers. Psychological trauma was predominantly reported when caregivers communicated the diagnosis to children. 22% have a high risk of post-traumatic stress, relating the feeling of unpreparedness in communicating this to the child. Conclusions It was identified that the failure in communication is the main factor for negative repercussions on the autonomy of children and their guardians, with self-reported psychological trauma, besides the high risk for post-traumatic stress syndrome.

Introduction: Neuromuscular diseases comprise a heterogeneous group of genetic syndromes that lead to progressive muscle weakness, resulting in functional limitation. There is a gap in the literature regarding the communication of the diagnosis of such diseases, compromising the autonomy of patients and families, besides causing stress on the assistant physician. Objectives: Developing a guide to reduce communication barriers in the diagnosis of neuromuscular diseases. Methodology: Systematic review, after searching the descriptors (“Muscular Diseases” OR “Neuromuscular Diseases”) AND (“Truth Disclosure” OR “Bad news communication” OR “Breaking bad News”) in the Pubmed, Bireme, and Scopus websites, and these results were analyzed through narrative textual synthesis. Results: 16 articles were submitted to the final analysis, giving rise to seven steps to support the communication process. These are Empathy, Message, Prognosis, Reception, Time, Individualization, and Autonomy. Discussion and conclusion: The empathic transmission of the message and the prognosis must accommodate the feelings of the interlocutors with different information needs. In this way, communication planning optimizes the time and individualizes each context, respecting the autonomy of those involved. EMPATIA reflects the bioethical and interdisciplinary analysis of the literature and comes to fill the gap related to the communication of bad news in neuromuscular diseases.

A revolução biotecnológica proporcionou várias melhorias para a vida da humanidade, mas ao mesmo tempo criou problemas éticos que ameaçam a própria existência conforme conhecemos. A ciência deve encontrar como o principal limite a dignidade da pessoa humana, já que é inadmissível que o homem seja utilizado como um mero meio para a evolução científica. O artigo visa delinear quais desafios o princípio da dignidade encontra na atualidade para garantir a sua eficácia social perante o mundo biotecnológico. Foi utilizado o método de estudo qualitativo e método indutivo-dedutivo para confrontar os avanços da revolução biotecnológica com a preservação da dignidade.

Introduction: Communicating the diagnosis of a genetic and neurodegenerative disease, such as spinal muscular atrophy (SMA), requires a transmission centered on the patient and/or the family caregiver, ensuring autonomy to those involved and strengthening the doctor–patient relationship. Objective: Analyzing the communication of the SMA diagnosis from the perspective of patients and family members. Methods: This qualitative study was developed through semi-structured interviews, via teleconsultation. The analysis was developed by systematically condensing the answers and synthesizing them into four thematic axes (clarification of the diagnosis, communication of the prognosis, affective memory related to the event, and advice to physicians). Results and discussion: Twenty-nine patients with SMA and 28 family caregivers of people with this condition, from all regions of Brazil, reported that individualized, clear, honest, and welcoming communication, emphasizing positive aspects, in the presence of family members and with the possibility of continuous monitoring, was important to meeting their communication needs. A lack of empathy, monitoring and guidance, and estimating life expectancy resulted in negative experiences. Conclusions: The communication needs of patients and family members described during the clarification of the diagnosis and prognosis of SMA predominantly involve empathic factors related to the attitude of the attending physician throughout the evolution of the disease. Future research evaluating other neurodegenerative diseases and the development of research protocols are important to improving communication between physicians, patients, and family members.