University College Cork, Ireland.
J Intellect Disabil. 2024 Sep;28(3):738-758. doi: 10.1177/17446295231186851. Epub 2023 Jul 4.
22q11.2 deletion syndrome is a rare multisystem genetic disorder with over 200 associated characteristics, occurring in various combinations and severity. Extensive biomedical research has been undertaken on 22q11.2 deletion syndrome, however, there is a dearth of research on families' experiences of managing a family member with this condition. The complex and at times serious phenotypical presentation of the syndrome can make the management of the condition difficult for families. The aim of this mixed method explanatory sequential study was to investigate family hardiness as a resilience factor for adaptation in families of children with 22q11.2 deletion syndrome from parents' perspectives. We found that adaptation scores increased by 0.57 points (95% CI: 0.19-0.94) for every one-point increase in family hardiness score. Qualitative results indicated that acceptance of the child's diagnosis and support positively influenced hardiness whereas fears about the future and their experiences of loss negatively influenced hardiness.
22q11.2 缺失综合征是一种罕见的多系统遗传性疾病,具有 200 多种相关特征,以各种组合和严重程度出现。对 22q11.2 缺失综合征进行了广泛的生物医学研究,但对家庭管理该疾病患者的经验研究却很少。该综合征复杂且有时严重的表型表现可能使家庭难以管理该疾病。本混合方法解释性序贯研究的目的是从父母的角度探讨家庭坚韧作为适应 22q11.2 缺失综合征儿童家庭的适应力因素。我们发现,家庭坚韧度每增加 1 分,适应度评分就会增加 0.57 分(95%CI:0.19-0.94)。定性结果表明,对孩子诊断的接受和支持积极影响了坚韧度,而对未来的恐惧和他们的失落经历则对坚韧度产生了负面影响。