Abstract：
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.
摘要：
22q11.2缺失综合征是一种罕见的多系统遗传性疾病，具有200多个相关特征，以各种组合和严重程度发生。对22q11.2缺失综合征进行了广泛的生物医学研究，然而,有一个缺乏研究的家庭\'管理家庭成员与这种情况下的经验。综合征的复杂且有时严重的表型表现可能使家庭难以管理病情。这种混合方法的解释性序贯研究的目的是从父母的角度研究22q11.2缺失综合征儿童家庭的家庭韧性作为适应的弹性因素。我们发现，家庭坚韧不拔得分每增加1分，适应得分就会增加0.57分（95％CI：0.19-0.94）。定性结果表明，接受儿童的诊断和支持对耐力有积极影响，而对未来的恐惧和他们的损失经历对耐力有负面影响。
