Sherlock Clara, Clarke Kim, Jordan Norah
National Centre for Inherited Metabolic Disorders, Children's Health Dublin Ireland.
JIMD Rep. 2025 Feb 25;66(2):e70000. doi: 10.1002/jmd2.70000. eCollection 2025 Mar.
Recent advancements in new-born screening have reduced the risk of life-threatening complications associated with inherited metabolic disorders. However, the risk of negative psychosocial effects on families persists. The aim of the present study was to systematically review the literature concerning the psychosocial challenges experienced by young people with metabolic conditions and their families, to inform the development of supports that meet the needs of those linked with metabolic services. The electronic databases MEDLINE, CINAHL, PsychInfo, and Psychology and Behavioural Sciences Collection were searched for studies examining psychosocial challenges reported by families with inherited metabolic conditions, over the last two decades. Five-thousand sixty-seven articles were screened for relevance. Twenty-nine studies met the inclusion criteria. Study quality and reliability were independently assessed by two reviewers. Results highlighted the myriad of physical, social, psychological and practical challenges experienced by young people with metabolic conditions and their families. These challenges included social isolation, burden of care, and learning and emotional difficulties. Findings reiterate the importance of developing peer support groups and delivering psychoeducation to families, as well as the central role psychology and social work should play in metabolic MDTs, to improve families' experiences and outcomes.
新生儿筛查方面的最新进展降低了与遗传性代谢紊乱相关的危及生命并发症的风险。然而,对家庭产生负面心理社会影响的风险依然存在。本研究的目的是系统回顾有关患有代谢疾病的年轻人及其家庭所经历的心理社会挑战的文献,为制定满足与代谢服务相关人群需求的支持措施提供依据。在电子数据库MEDLINE、CINAHL、PsychInfo以及心理学与行为科学文集里搜索了过去二十年中有关遗传性代谢疾病家庭所报告的心理社会挑战的研究。筛选了5067篇文章以确定其相关性。29项研究符合纳入标准。两名评审员独立评估研究质量和可靠性。结果突出了患有代谢疾病的年轻人及其家庭所经历的众多身体、社会、心理和实际挑战。这些挑战包括社会隔离、护理负担以及学习和情感困难。研究结果重申了建立同伴支持小组和为家庭提供心理教育的重要性,以及心理学和社会工作在代谢多学科团队中应发挥的核心作用,以改善家庭的体验和结果。