目的:面肩肱骨营养不良(FSHD)患儿的生活质量(QoL)似乎有可能降低。对FSHD儿童QoL的影响因素知之甚少。我们的目标是探索影响儿童生活质量的因素,青少年,和患有FSHD的年轻人,来描述他们如何体验FSHD的生活,并报告他们的支持需求。
方法:我们进行了一项混合方法研究,采用适合年龄的半结构化访谈评估儿童的QoL,青少年,以及患有FSHD的年轻人和他们的父母。为了表征样品,QoL的定量数据,疼痛,疲劳,并收集了参与。使用主题分析对访谈数据进行分析。
结果:14名患者参加(年龄在9至26岁之间,八名男性和六名女性)。FSHD严重程度,如FSHD评分所示,与QoL无关。年龄较大的孩子的QoL低于年龄较小的孩子。无论身体不适,儿童和青少年都在努力恢复正常。FSHD的表型特征导致其他人的有害评论加剧了不安全感。疾病进展的不可预测性及其对职业和父母身份选择的影响导致了对未来的普遍不确定性。得到了家人和朋友的支持。参与者表示需要同伴支持和心理支持,并向其他人推荐。
结论:FSHD儿童的生活质量因身体限制而降低,改变外观,害怕社会排斥,以及未来疾病进展的不确定性。对社会排斥的恐惧很可能有助于追求正常,而不管身体不适。支持应侧重于接受和应对有害的评论。它最好是个性化的,容易获得,不作为治疗,而是作为儿童辅导。
OBJECTIVE: Quality of life (QoL) in children with facioscapulohumeral dystrophy (FSHD) seems plausible decreased. Little is known about factors influencing QoL in children with FSHD. Our objective is to explore factors contributing to the QoL of children, adolescents, and young adults with FSHD, to describe how they experience life with FSHD, and to report their support needs.
METHODS: We performed a mixed-method study with individual age-appropriate semi-structured interviews assessing QoL in children, adolescents, and young adults with FSHD and their parents. To characterize the sample, quantitative data on QoL, pain, fatigue, and participation were collected. Interview data was analyzed using a thematic analysis.
RESULTS: Fourteen patients participated (age between 9 and 26 years old, eight males and six females). The degree of FSHD severity, as indicated by the FSHD-score, did not correlate with QoL. Older children had a lower QoL than younger children. Children and adolescents strived for normality regardless of physical discomfort. Phenotypical features of FSHD led to insecurity aggravated by hurtful comments of others. The unpredictability of disease progression and its implications for career and parenthood choices led to a generalized feeling of uncertainty about the future. Support was found within family and friends. Participants expressed a need for peer support and psychological support as well as recommending it to others.
CONCLUSIONS: Quality of life in childhood FSHD is diminished caused by their physical limitations, altered appearance, fear of social rejection, and uncertainty of the disease progression in the future. A fear of social rejection most likely contributes to striving for normality regardless of physical discomfort. Support should be focused on acceptance and coping with hurtful comments. It should preferably be individualized, easily accessible and not offered as therapy but rather as tutoring for children.