Division of Psychology and Mental Health, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Greater Manchester Mental Health NHS Foundation Trust, Manchester, UK.
J Inherit Metab Dis. 2022 May;45(3):406-416. doi: 10.1002/jimd.12482. Epub 2022 Feb 24.
Lysosomal storage disorders are rare multiorgan, degenerative conditions requiring invasive treatment. Rare disorders pose unique challenges; therefore, exploring their impact is crucial for understanding family needs. This novel review aimed to understand the psychosocial outcomes for parents of children with lysosomal storage disorders. Five electronic databases were systematically searched. Thirty-eight (23 qualitative, 10 qualitative and 5 mixed methods) studies were included, analysed using a sequential explanatory narrative synthesis and appraised for their methodological quality. Quantitative data revealed the multifaceted impact on parents' psychological and social wellbeing. Qualitative data informed the challenges that these parents faced which were expressed within three main themes: (a) Uncertainty and the unknown, (b) All-encompassing impact and (c) Finding a way forward. The synthesis demonstrated that factors associated with the condition (symptoms, behaviour and severity) had a substantial negative impact on parental outcomes, upheld by concurrent loss (deterioration and poor prognosis) and uncertainty. This substantive integrated review revealed considerable unmet parental psychosocial needs.
溶酶体贮积症是一种罕见的多器官退行性疾病，需要进行侵入性治疗。罕见疾病带来了独特的挑战；因此，探索它们的影响对于了解家庭需求至关重要。本综述旨在了解溶酶体贮积症患儿父母的心理社会结局。系统检索了 5 个电子数据库。纳入了 38 项研究（23 项定性研究、10 项定性和混合方法研究），使用序贯解释性叙事综合方法进行分析，并对其方法学质量进行了评估。定量数据显示了对父母心理和社会健康的多方面影响。定性数据告知了这些父母所面临的挑战，这些挑战在三个主题中得到了体现：(a) 不确定性和未知，(b) 全面影响，(c) 寻找前进的道路。综合分析表明，与疾病相关的因素（症状、行为和严重程度）对父母的结果有实质性的负面影响，这与并发的丧失（恶化和预后不良）和不确定性有关。这项实质性的综合综述揭示了父母心理社会需求的巨大未满足。
