John Cherian Dani, Ta Daniel, Smith Jeremy, Downs Jenny, Leonard Helen
School of Human Sciences, University of Western Australia, Perth 6009, Australia.
Telethon Kids Institute, Centre for Child Health Research, University of Western Australia, Perth 6872, Australia.
Children (Basel). 2023 Jul 11;10(7):1202. doi: 10.3390/children10071202.
duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 () gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents. The data were coded into three categories: (1) complex care needs in the home, (2) highly skilled caregivers, and (3) impact on caregivers and families. Complex 24 h care was required and parents developed complex skillsets to ensure that this was delivered well to their child. The provision of extensive complex medical care in the home had an impact on parent mental and physical health, family dynamics, and finances. This study captures the management of high-burden comorbidities in MDS at home. Investigations into how best to support caregiver wellbeing to reduce their stresses, whilst maintaining optimal child health and wellbeing, are needed.
重复综合征（MDS）是一种罕见的X连锁神经发育障碍，由甲基CpG结合蛋白2（）基因重复引起。MDS的临床特征包括严重智力残疾、全面发育迟缓、癫痫发作、反复呼吸道感染和胃肠道问题。这项定性研究的目的是探讨MDS患儿的父母如何管理孩子的癫痫发作、反复呼吸道感染和胃肠道症状，以及这些对他们作为父母的影响。数据被编码为三类：（1）家庭中的复杂护理需求，（2）高技能护理人员，（3）对护理人员和家庭的影响。需要24小时的复杂护理，父母也培养了复杂的技能，以确保能为孩子提供良好的护理。在家中提供广泛的复杂医疗护理对父母的身心健康、家庭动态和经济状况都有影响。本研究记录了在家中对MDS高负担合并症的管理情况。需要研究如何在维持孩子最佳健康和幸福的同时，最好地支持护理人员的幸福，以减轻他们压力。
