Understanding the experiences and needs of individuals with Spinal Muscular Atrophy and their parents: a qualitative study

Abstract

BackgroundThe clinical features of SMA, which range along a spectrum of severity, are relatively well described. In contrast, the literature on how individuals with SMA and their families experience this condition is limited. To address this gap, we undertook a qualitative study with individuals affected by SMA Types I, II and III, parents of those affected, and clinicians.MethodsWe completed 16 focus group sessions and 37 interviews in the US with 96 participants including: 21 with individuals with SMA; 64 parents of individuals affected by SMA; and 11 clinicians who specialize in the care of SMA patients.ResultsThe Diagnostic Journey: Families reported substantial diagnostic delays owing to: 1) lack of awareness and knowledge about SMA; 2) the difficulty of distinguishing normal from abnormal development; and 3) the challenge of differential diagnosis. Lack of sensitivity in how clinicians communicated this potentially devastating diagnosis compounded parents’ negative impressions.Newborn Screening: Parents generally held positive views about adding SMA to newborn screening panels. For example, it would: 1) enable earlier access to care; 2) shorten the diagnostic journey; and 3) give families more time to prepare to care for a disabled child. Some noted negative outcomes such as prematurely affecting a parent’s relationship with a child before symptoms are evident.The Psychosocial Impact of Living with SMA: Ten thematic areas characterized the impact: 1) confronting premature death; 2) making difficult treatment choices; 3) fearing the loss of functional ability; 4) coming to terms with lost expectations; 5) loss of sleep and stress; 6) stigma; 7) limitations on social activities; 8) independence; 9) uncertainty and helplessness; and 10) family finances.ConclusionsThe results of this study suggest high levels of burden experienced by individuals with SMA and their families. The difficulties of living with SMA begin with the long and often arduous process of finding a diagnosis for their child. Newborn screening for SMA is seen as an important step toward shortening this journey. The psychosocial effects of coping with SMA are substantial and wide ranging both for the individual living with this condition and family members of affected individuals.

Psychological well-being in adults with spinal muscular atrophy: the contribution of participation and psychological needs

“…social development, stigma) and competence (e.g. self-control, self-confidence, being a productive member of society) on their psychological wellbeing [47][48][49].…”

Quality of life data for individuals affected by Spinal Muscular Atrophy: A baseline dataset from the Cure SMA Community Update Survey

“…Patients with juvenile SMA (type III) can walk at some point and have a normal life expectancy, although they develop muscle weakness over time and often eventually lose ambulation. In rare cases, patients' symptoms rst appear in adulthood (type IV) (6)(7)(8).…”

“…What we have learned through qualitative research conducted prior to approval of new treatment options, is that the burden of SMA is multifaceted and extremely challenging for patients and their families. Often this odyssey begins with a prolonged and traumatic process to con rm diagnosis and a life-long journey of overwhelming physical, emotional, psychosocial, and nancial strains associated with managing and living with a progressive, debilitating, and incurable disease (7,(12)(13)(14)(15)).…”

“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

“…Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease categorized by progressive muscle weakness often resulting in loss of movement, signi cant disability, and premature death (Lefebvre et al, 1995;Arnold et al, 2015;Kolb and Kissel, 2015). Although it is considered a rare disease, SMA is one of the most common genetic causes of death in infants, with a prevalence of 1 in 10,000 to 11,000 infants (McGraw et al, 2017;Qian et al, 2015;Verhaart et al, 2017;Prior, 2008). SMA is estimated to affect between 8,500 and 10,300 children and adults in the US (Lally et al, 2017;Belter et al, 2018).…”

“…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.…”