Wray Jo, Abrines Jaume Neus, Oulton Kate, Sell Debbie
Centre for Outcomes and Experience Research in Children's Health, Illness and Disability (ORCHID), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Healios, London, UK.
Child Care Health Dev. 2023 Jan;49(1):90-105. doi: 10.1111/cch.13013. Epub 2022 Apr 22.
22q11DS11.2 deletion syndrome (22q11DS) is a complex multisystem syndrome characterized by physical abnormalities, psychiatric comorbidities and cognitive deficits. The views of children and young people (CYP) about the challenges associated with their mental health, behaviour, learning and communication difficulties have not been reported. The aim of this study was to address this gap and to understand whether they had help and support with these and their views of this.
A three-phase mixed-methods study was undertaken, involving interviews with CYP with 22q11DS, a follow-up survey for those aged 11-25 years and a stakeholder workshop at which CYP presented their views of living with 22q11DS to health professionals and parents. Interview transcripts were thematically analysed, and non-parametric statistics were used to analyse survey data.
The interviews (n = 13) and survey (n = 32) indicated a mixed picture, with some CYP not reporting ongoing problems; others who had problems received help but a sizeable proportion had unmet needs and wanted to receive help. Two-thirds reported often experiencing negative feelings, and almost half had difficulties with social interactions. Family members were the main sources of support, with teaching assistants identified as an important support at school.
The emotional impact of 22q11DS on CYP can be significant: They often do not understand the consequences of having 22q11DS and are frequently not given strategies to understand and manage their feelings, behaviour or problems. This leads to a range of emotions that manifest in different ways at home and at school. CYP are able to talk about the impact of different aspects of 22q11DS on them, facilitated by the use of creative methods, but they differ in how the condition affects them and their perceptions about that. It is imperative that CYP themselves are asked about their experiences, feelings and needs to ensure tailoring of interventions to their individual requirements.
22q11.2缺失综合征（22q11DS）是一种复杂的多系统综合征，其特征为身体异常、精神共病和认知缺陷。儿童和青少年（CYP）对与其心理健康、行为、学习和沟通困难相关挑战的看法尚未见报道。本研究的目的是填补这一空白，并了解他们在这些方面是否得到帮助和支持以及他们对此的看法。
开展了一项三阶段混合方法研究，包括对患有22q11DS的CYP进行访谈、对11至25岁的人群进行后续调查以及举办利益相关者研讨会，会上CYP向健康专业人员和家长讲述了他们患有22q11DS的生活感受。对访谈记录进行主题分析，并使用非参数统计分析调查数据。
访谈（n = 13）和调查（n = 32）显示情况不一，一些CYP未报告持续存在的问题；其他有问题的人得到了帮助，但相当一部分人有未满足的需求且希望得到帮助。三分之二的人报告经常有负面情绪，近一半的人在社交互动方面有困难。家庭成员是主要的支持来源，教学助理被认为是学校的重要支持力量。
22q11DS对CYP的情感影响可能很大：他们通常不理解患有22q11DS的后果，也常常没有得到理解和管理自己情绪、行为或问题的策略。这导致一系列情绪在家庭和学校以不同方式表现出来。通过使用创造性方法，CYP能够谈论22q11DS不同方面对他们的影响，但该病对他们的影响方式以及他们对此的认知存在差异。必须询问CYP自身的经历、感受和需求，以确保干预措施能根据他们的个人需求进行调整。
