Health, wellbeing and lived experiences of adults with SMA: a scoping systematic review

Abstract

Background: Spinal muscular atrophy (SMA) is a neurodegenerative disease that has a substantial and multifaceted burden on affected adults. While advances in supportive care and therapies are rapidly reshaping the therapeutic environment, these efforts have largely centered on pediatric populations. Understanding the natural history, care pathways, and patient-reported outcomes associated with SMA in adulthood is critical to advancing health policy, practice and research across the disease spectrum. The aim of this study was to systematically review research investigating the healthcare, well-being and lived experiences of adults with SMA. Methods: In accordance with the Preferred Reported Items for Systematic Reviews and Meta-Analysis guidelines, seven electronic databases were systematically searched until January 2020 for studies examining clinical (physical health, natural history, treatment) and patient-reported (symptoms, physical function, mental health, quality of life, lived experiences) outcomes in adults with SMA. Study risk of bias and the level of evidence were assessed using validated tools. Results: Ninety-five articles met eligibility criteria with clinical and methodological diversity observed across studies. A heterogeneous clinical spectrum with variability in natural history was evident in adults, yet slow declines in motor function were reported when observational periods extended beyond 2 years. There remains no high quality evidence of an efficacious drug treatment for adults. Limitations in mobility and daily activities associated with deteriorating physical health were commonly reported, alongside emotional difficulties, fatigue and a perceived lack of societal support, however there was no evidence regarding effective interventions. Conclusions: This systematic review identifies the many uncertainties regarding best clinical practice, treatment response, and long-term outcomes for adults with SMA. This comprehensive identification of the current gaps in knowledge is essential to guide future clinical research, best practice care, and advance health policy with the ultimate aim of reducing the burden associated with adult SMA.

“I have SMA, SMA doesn’t have me”- A Qualitative Snapshot Into the Challenges, Successes, and Quality of Life of Sma Adolescents and Young Adults

“…Additionally, in a poll conducted among caretakers and individuals with SMA, during the SMA Patient Focused Drug Development Meeting with FDA, 105 adults with SMA reported having experienced anxiety (79%), depression (61%), and social isolation (63.8%) as a result of coping with SMA and SMA symptoms (Cruz et al, 2018). Furthermore, in a series of 25 interviews conducted with SMA-affected young adults and adults in Australia, mental health was highlighted as a major unmet need, particularly in stressful times related to SMA symptoms including loss of function, social isolation, stigma and questions of self-worth (Wan et al, 2020). While this impact was not found as profound in our studies, those who were affected described being impacted severely, from withdrawing from mainstream school to ongoing battles with depression.…”

“…When breaking our population into cohorts of adolescents (ages 12-18) and young adults (ages [19][20][21][22][23][24][25], it is evident that certain themes are most relevant to certain age groups versus others (see Supplemental Tables II, IV, VI, and VIII). Statistically signi cant results were found in Questions 1, 2 and 4 with respect to differing priorities.…”

“…Although mental health was not the most frequent factor in any supplement category, the impact of SMA on mental health can be severe (Rounault et al, 2017; Cruz et al, 2018, Wan et al, 2019, Wan et al, 2020. Across the four supplement questions, mental health was discussed by twelve different participants.…”

“…To our knowledge, this study is the rst to capture quality-of-life information among adolescents and young adults, directly from the affected individuals via these means. In our target population of individuals ages 12-25, the adolescent perspective (ages 12-18) is typically captured via caregiver proxy in studies along with that of young children, while the young adult perspective is captured along with that of adults at very different time points in life (Qian et al, 2015;Mongiovi et al, 2018;Renault, 2017;Cruz et al, 2018;Wan et al, 2019;Wan et al, 2020). It is therefore necessary to further understand the needs of this community and better de ne what this population considers to be factors of most importance in improving their quality-of-life.…”

“I have SMA, SMA doesn’t have me”- A Qualitative Snapshot into the Challenges, Successes, and Quality of Life of Adolescents and Young Adults with SMA

“…When breaking our population into cohorts of adolescents (ages 12-18) and young adults (ages [19][20][21][22][23][24][25], it is evident that certain themes are most relevant to certain age groups versus others. Statistically signi cant results were found in Questions 1, 2 and 4 with respect to differing priorities.…”