Réaliser une revue semi-systématique de la littérature sur la communication de l’annonce diagnostique des maladies neuromusculaires se déclarant à l’âge adulte.

La lecture de 211 résumés a permis d’isoler 29 articles constituant le corpus de littérature. À partir de la définition de Snyder nous avons analysé les thématiques sous lesquelles le sujet est abordé dans la littérature.

Le faible nombre d’articles (n=8) recueillis pour notre recherche en neuromyologie nous a conduits à élargir la recherche aux maladies neurologiques. Au total, n=29 articles (8 en neuromusculaire et 21 en neurologie) ont été retenus à partir de l’inclusion de revues de la littérature, d’études quantitatives, qualitatives et mixtes portant sur une population de patients adultes et de médecins. Nous avons également intégré les articles portant sur des recueils d’expérience des neurologues ainsi que ceux parus dans des revues professionnelles. Les études existantes sont essentiellement menées auprès des patients et toujours de manière rétrospective.

Les invariants retrouvés sont : (1) l’effet pharmakon de l’annonce, (2) le setting de l’annonce comme condition nécessaire à l’appropriation de l’information par les patients, (3) la temporalité de l’annonce comme un ajustement des temps Chronos, Kairos et Scholè, enfin (4) l’annonce comme un processus.

Il apparaît nécessaire d’enrichir la compréhension du processus d’annonce diagnostique dans le champ spécifique de la neuromyologie en intégrant des données naturalistes et en croisant le vécu des médecins et des patients. Ceci, afin de mieux accompagner les patients et contribuer à la formation des médecins. Les résultats pourraient être transférables à d’autres maladies chroniques, évolutives incluant une dimension génétique.

The diagnosis of a neuromuscular disease constitutes a key moment in the relationship between patients and physicians. It is a determining factor in the patient's commitment to the treatment and in the process of experiencing disease as illness. In this perspective, receiving the diagnosis may induce confusion, long-term distress, resentment, anxiety, and a depressive syndrome in patients. From the physician's point of view, announcing a serious disease is also an emotionally burdensome and difficult act. The literature has shown that this practice may be a source of significant stress for professionals, which can lead to feelings of guilt, anger, fear of death, fear of disapproval, fear of not being good enough, and fear of their own emotional reactions as well as those of the patient. The announcement of a neuromuscular disease corresponds more specifically to the announcement of a chronic, progressive disease, often with no curative treatment, and is related to the announcement of a severe handicap. Often of genetic origin, these diseases also involve the risk of family transmission. In this sense, these pathologies have a significant impact on the quality of life of patients and their families. Thus, announcing and receiving a diagnosis of a neuromuscular disease characterized by the chronicity of its evolution and the absence of curative treatment represents a real challenge and a communication issue: How to announce the disease and accompany the patient over the course of their illness? In light of this observation, the aim of this essay is to carry out a semi-systematic review of the literature on the communication of diagnosis of neuromuscular disorders appearing in adulthood.

Our research consisted in two steps. First of all, we conducted research on the scientific databases Psyinfo, Pubmed, and Sciencedirect. Secondly, we completed this research with the Myobase database, specific to neuromuscular diseases. Given the small number of existing articles in the field of neuromuscular disorders (one of the specialties within neurology), we extended our research to the field of neurology on the scientific databases. Coming from Snyder's definition, we have analyzed the themes in which this subject is dealt with in literature.

Our first search for neuromuscular diseases in the scientific databases didn’t lead to any results (n=0). The extension of this research to the Myobase database led to a very low number of articles collected (n=8). Finally, extended our search to the field of neurology led us to 21 articles. In total, n=29 articles (8 in the field of neuromuscular diseases and 21 in neurology) were used, including literature reviews, and quantitative, qualitative, and mixed method studies from adult patients and doctors. We also included articles such as doctors’ testimonies as well as the ones published in professional or specialized reviews. First of all, our results show that little is known about the specific process of the announcement in the field of neuromuscular disease. Less than 1/3 (8/29) of the present articles come from the field of neuromuscular disorders, of which only 3 correspond to research papers. Existing studies have essentially been carried out alongside patients and always retrospectively. This finding reveals a lack of understanding of the diagnostic process that takes place between the protagonists. Secondly, our thematic analysis shows: (1) the paradoxical lived experiences for patients; (2) the importance of the setting: the notion of temporality, the location, and the accompaniment of patients, which recall important aspects of patients’ perspectives that are not systematically taken into account by physicians; (3) “good” information emerges as a balance between qualitative and quantitative dimensions and needs to be tailored to the individuality and to the needs of each patient; (4) finally, the relationship between doctor and patient seems a support factor which unfortunately could also lead to misunderstandings.

These results suggest that we consider: (1) the pharmakon effect of the announcement; (2) the setting of the announcement as a fundamental condition for the appropriation of the information by the patients; (3) the temporality of the announcement as an adjustment of the Chronos, Kairos, and Scholè times; and finally (4) the announcement as a process.

Further researches need to be done in order to better understand the communication process occurring during the diagnostic consultation in the specific field of neuromuscular disease: first, by integrating naturalistic data of announcement consultations; secondly, by exploring the relationship process occurring between neurologists and patients; and thirdly, by taking into account both doctors’ and patients’ experiences. This in order to better understand the source of misunderstanding and to contribute to the training of doctors to better support patients.