The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era

Abstract

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.

Keywords: Communication of diagnosis; Genetic counseling; Psychological impact; Spinal muscular atrophy; Treatment decision making.

Figure 1

Present and future scenarios of communication of the diagnosis in SMA, follow-up, and therapeutic considerations. The possible communication scenarios are classified regarding the different levels of prevention. Preconception screening and prenatal testing allow decision making regarding reproductive options. At birth, because of newborn screening, most cases are expected to be pre-symptomatic or paucisymptomatic. In infancy, we should contemplate babies that become symptomatic either because there was no newborn screening or they were not detected via newborn screening (ie, a false negative with point pathogenic variants). Adolescence is marked by becoming symptomatic or confirmation of the diagnosis after a long diagnostic odyssey. Transition optimization should be implemented in already-known cases. In adults, manifestations may appear or be the result of a final diagnosis after a long odyssey for the patient. SMA, spinal muscular atrophy; NBS, newborn screening.

Figure 2

Facing a new patient with SMA. The center of the triangle represents the biopsychosocial model, which considers the 3 main aspects of an individual: the organism itself, psyche, and social environment. The organism refers to biological elements such as age, gender, phenotype or genetics; the psyche refers to mental and emotional health, beliefs, and expectations. Social environment refers to relationships, social support, and socioeconomic elements. The three factors of the biopsychosocial model should be considered during the diagnostic process, which includes communication of the diagnosis, integral follow-up, and treatment decision making. Further explanation in the text. Based on Tizzano et al, Serra-Juhe et al, and Gliedt et al.^,,

Figure 3

The processes to be covered by health professionals facing a new SMA patient. New patients may be detected by genetic confirmation via newborn screening or because of clinical manifestations. Adequate communication of the diagnosis to the patient should be performed according to age or family caregivers. Genetic counseling and integral follow-up protocols should also be provided. In the end, the process merges into a shared assessment of treatment decision making and managing expectations, always considering the bio-psycho-social integral approach (see Figure 2 for further explanation). Psychological support is always required.

Figure 4

Issues and concerns arising when communicating the SMA diagnosis. The left section compiles possible adaptive reactions and attitudes of the patient and their family, organized according to the different stages of grief, which usually starts as denial and ends as hope. However, depending on the personality of the patients/families, coping styles and strategies may vary for each case, with different adaptive reactions (ie, starting with acceptance). To help patients/families face and resolve the different stages of grief, the health care professionals responsible for the communication process may consider the alternative approaches outlined in the right-hand section.