Jildou N. Dijkstra , Nathaniël B. Rasing , Helena T.M. Boon , Sandra Altena-Rensen , Edith H.C. Cup , Anke Lanser , Ietske J. Siemann , Baziel G. van Engelen , Corrie E. Erasmus , Nicol C. Voermans
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引用次数: 0
Abstract
Background and objectives
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.
Discussion
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.
背景和目的面腓骨肌营养不良症（FSHD）儿童的生活质量（QoL）似乎有可能下降。但人们对影响面岬-肱骨营养不良症儿童生活质量的因素知之甚少。我们的目标是探索影响患有前额、面颊和腕部肌营养不良症的儿童、青少年和年轻人的 QoL 的因素，描述他们如何体验患有前额、面颊和腕部肌营养不良症的生活，并报告他们的支持需求。为了描述样本的特征，我们收集了有关 QoL、疼痛、疲劳和参与度的定量数据。结果14名患者（年龄在9至26岁之间，8男6女）参加了调查。FSHD评分所显示的FSHD严重程度与QoL没有相关性。年长儿童的 QoL 值低于年幼儿童。无论身体是否不适，儿童和青少年都力求保持正常。前列腺增生症的表型特征导致不安全感，而他人的伤害性评论又加剧了这种不安全感。疾病发展的不可预测性及其对职业和养育子女选择的影响导致了对未来的普遍不确定感。家人和朋友给予了支持。讨论儿童前列腺肥大症患者的生活质量因身体受限、外貌改变、害怕被社会排斥以及对未来疾病进展的不确定性而下降。害怕被社会排斥的心理很可能导致他们不顾身体不适，努力追求正常生活。支持的重点应放在接受和应对伤人的评论上。这种支持最好是个性化的、容易获得的，并且不是作为治疗提供的，而是作为对儿童的辅导提供的。
期刊介绍：
The European Journal of Paediatric Neurology is the Official Journal of the European Paediatric Neurology Society, successor to the long-established European Federation of Child Neurology Societies.
Under the guidance of a prestigious International editorial board, this multi-disciplinary journal publishes exciting clinical and experimental research in this rapidly expanding field. High quality papers written by leading experts encompass all the major diseases including epilepsy, movement disorders, neuromuscular disorders, neurodegenerative disorders and intellectual disability.
Other exciting highlights include articles on brain imaging and neonatal neurology, and the publication of regularly updated tables relating to the main groups of disorders.
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