Qian Ying, McGraw Sarah, Henne Jeff, Jarecki Jill, Hobby Kenneth, Yeh Wei-Shi
SMA Foundation, 888 7th Ave #400, New York, NY, 10106, USA.
The Henne Group, 116 New Montgomery Street, Suite 812, San Francisco, California, 94105, USA.
BMC Neurol. 2015 Oct 24;15:217. doi: 10.1186/s12883-015-0473-3.
The 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.
We 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.
The 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.
The 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.
脊髓性肌萎缩症（SMA）的临床特征严重程度不一，已有相对充分的描述。相比之下，关于SMA患者及其家庭如何体验这种疾病的文献却很有限。为填补这一空白，我们对I型、II型和III型SMA患者、患者父母以及临床医生进行了一项定性研究。
我们在美国完成了16次焦点小组讨论和37次访谈，共有96名参与者，包括21名SMA患者、64名SMA患者的父母以及11名专门护理SMA患者的临床医生。
诊断历程：家庭报告称，由于以下原因，诊断出现了严重延误：1）对SMA缺乏认识和了解；2）难以区分正常发育与异常发育；3）鉴别诊断面临挑战。临床医生传达这一潜在毁灭性诊断时缺乏敏感度，加重了父母的负面印象。新生儿筛查：父母普遍对将SMA纳入新生儿筛查项目持积极态度。例如，这将：1）使患者能更早获得治疗；2）缩短诊断历程；3）让家庭有更多时间为照料残疾儿童做准备。一些人指出了负面结果，比如在症状明显之前过早影响父母与孩子的关系。与SMA共存的心理社会影响：有十个主题领域描述了这种影响：1）直面过早死亡；2）做出艰难的治疗选择；3）担心失去功能能力；4）接受期望的丧失；5）睡眠不足和压力；6）耻辱感；7）社交活动受限；8）独立性；9）不确定性和无助感；10）家庭经济状况。
本研究结果表明，SMA患者及其家庭负担沉重。与SMA共存的困难始于为孩子寻找诊断的漫长且往往艰巨的过程。SMA新生儿筛查被视为缩短这一历程的重要一步。应对SMA的心理社会影响对患者本人及其家庭成员来说都很大且广泛。
