Communicating the diagnosis of spinal muscular atrophy in endogamous vs. non-endogamous regions.

Introduction: The high prevalence of endogamy, or inbreeding, in northeastern Brazil, is due to historical and cultural factors, with large families living in cities far from the coast and subject to low socioeconomic and infrastructure levels. This breeding practice results in low genetic variability with an increased prevalence of rare autosomal recessive and neurodegenerative diseases, such as spinal muscular atrophy (SMA).

Objective: Understanding the impact of communicating the diagnosis of SMA on the mental health of patients and their families and the differences between the Northeast (endogamous region) and the other regions of Brazil (non-endogamous ones).

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

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.

EMPATIA: A Guide for Communicating the Diagnosis of Neuromuscular Diseases.

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.

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

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.