Communicating the Spinal Muscular Atrophy diagnosis to children and the principle of autonomy

Abstract

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.

EMPATIA: A Guide for Communicating the Diagnosis of Neuromuscular Diseases

“…One article obtained during the search in the references approaches the perspective of communication of the diagnosis between family members and people with genetic diseases, linked to the X chromosome, which, despite not directly addressing neuromuscular diseases, was selected for the final analysis because of the similarity related to rarity, genetic origin, functional impairment, absence of curative treatment, and need for continued rehabilitation [ 22 ]. The article on communication in the SMA was approved for publication and is under review [ 23 ].…”

“…Empathy is the essence of this communication guide. Despite being considered a basic skill [ 5 ], several studies have described the absence of empathy during the diagnosis of neurodegenerative diseases [ 6 , 11 , 14 , 23 , 25 , 26 , 27 , 28 ]. Communicating the diagnosis of a neuromuscular disease to a patient and/or their family members requires empathy for the others and understanding on what, where, how, and in the presence of whom this should happen.…”

“…The needs of the doctor/child/legal guardian trinomial must be individualized, with guidance to parents and family members who must have their doubts clarified to feel prepared to talk about the diagnosis in the different stages of maturity of their children [ 10 , 22 , 23 , 31 ]. The absence of this support causes psychological stress and increased predisposition to post-traumatic stress disorder in family caregivers [ 23 ]. In addition, the psychological vulnerability of parents associated with poor understanding of the various aspects related to the disease may generate inadequate decision-making [ 36 ].…”

“…The authors intend to analyze the impact of EMPATIA on several aspects, such as the communication of the diagnosis of neuromuscular diseases, the physician–patient relationship, the stress related to the doctor during this moment [ 6 , 12 , 26 , 27 ], the psychological sequelae and post-traumatic stress disorder in family members, and, consequently, on the autonomy of those involved during the decision-making [ 23 ].…”

Communication of the Diagnosis of Spinal Muscular Atrophy in the Views of Patients and Family Members, a Qualitative Analysis

“…Thus, the diagnosis must be communicated by a doctor in an appropriate environment, using clear vocabulary, without ambiguities and jargon, while giving some time for patients and families to clarify doubts [ 12 , 17 , 18 , 24 ] to avoid the “feeling of abandonment” and dissatisfaction [ 10 , 20 ] from causing “psychological trauma” [ 8 , 12 ] or post-traumatic stress syndrome [ 25 ].…”