Donaldson Andrew, Guntrum Debra, Ciafaloni Emma, Statland Jeffrey
University of Kansas Medical Center (AD, JS); and University of Rochester Medical Center (DG, EC), NY.
Neurol Clin Pract. 2021 Aug;11(4):311-317. doi: 10.1212/CPJ.0000000000000970.
To understand the milestones achieved in the transition from childhood to adulthood for patients with Duchenne and Becker muscular dystrophies (DMD/BMD).
We performed a retrospective chart review on patients aged 15 years or older with a clinical diagnosis of DMD/BMD who received care from January 1, 2008, to January 1, 2018 at the University of Kansas Medical Center and the University of Rochester Medical Center. Participants were identified using local Muscular Dystrophy Asssociation-funded clinic lists, neuromuscular research databases, and electronic medical record review. Data were abstracted using a uniform template on education, employment, community resources, relationships, and end-of-life discussions and is presented as mean, median, or frequency with associated 95% confidence interval (CI).
A total of 109 patients were identified: patients ranged in age from 15 to 56 years with a median of 24, and covered a 5-state region and Ontario, Canada. Seventy-eight percent of patients had DMD and were, on average, 8.5 years younger than patients with BMD. Over half (56.9%, 95% CI 47.6-66.2) were high school graduates or beyond. Sixteen percent did not have their highest level of education documented. Only 20.0% had an occupation (95% CI 12.7-27.7), most frequently in education and administrative support (34%). The majority were still living with parents (80.7%, 95% CI 73.3-88.1). A minority reported having end-of-life discussions (17.4%, 95% CI 10.3-24.6).
Psychosocial elements reflecting the transition to adulthood are inconsistently reported in clinical documentation. A prospective study will further elucidate this transition.
了解杜氏和贝克肌营养不良症（DMD/BMD）患者从儿童期到成年期过渡过程中所取得的里程碑式进展。
我们对2008年1月1日至2018年1月1日期间在堪萨斯大学医学中心和罗切斯特大学医学中心接受治疗、临床诊断为DMD/BMD且年龄在15岁及以上的患者进行了回顾性病历审查。通过当地肌肉萎缩症协会资助的诊所名单、神经肌肉研究数据库和电子病历审查来确定参与者。使用统一模板提取有关教育、就业、社区资源、人际关系和临终讨论的数据，并以均值、中位数或频率以及相关的95%置信区间（CI）呈现。
共确定了109名患者：年龄在15至56岁之间，中位数为24岁，覆盖5个州的地区以及加拿大安大略省。78%的患者患有DMD，平均比患BMD的患者年轻8.5岁。超过一半（56.9%，95%CI 47.6 - 66.2）为高中毕业生或更高学历。16%的患者未记录其最高学历。只有20.0%有职业（95%CI 12.7 - 27.7），最常见的是教育和行政支持领域（34%）。大多数人仍与父母同住（80.7%，95%CI 73.3 - 88.1）。少数人报告进行过临终讨论（17.4%，95%CI 10.3 - 24.6）。
临床记录中关于向成年期过渡的社会心理因素报告不一致。一项前瞻性研究将进一步阐明这一过渡情况。
