Individuals with 22q11.2 deletion syndrome (22qDS) have a 25%–41% risk for a psychotic disorder. Although early intervention for psychiatric conditions leads to the best long-term outcomes, healthcare providers often provide inadequate information about these issues and psychiatric services are underused by this population. We conducted semi-structured interviews with parents of children with 22qDS a month after they received psychiatric genetic counseling (pGC), to evaluate outcomes and perceived value of pGC with respect to parents’ needs. Using grounded theory, we generated a theoretical framework of the process of building parental awareness of psychiatric risks associated with 22qDS and protective and management strategies for mental health (MH). Parents described how after their child's diagnosis with 22qDS, a variety of barriers stalled their building awareness of psychiatric risk and protective/management strategies: dealing with the immediate symptoms of 22qDS; child's young age; parental fear and stigma; and missing MH guidance. These barriers led them to carry the burden of worrying over missing emerging psychiatric symptoms and the stress over advocating for their child's MH. Parents indicated pGC was beneficial in that led them to achieve an ‘awareness to act,’ feeling confident in being alert and equipped to protect and/or manage their child's MH.

中文翻译：

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22q11.2 缺失综合征患儿家长对接受精神遗传咨询的反思：“行动意识”

患有 22q11.2 缺失综合征 (22qDS) 的个体患精神病的风险为 25%–41%。尽管对精神疾病的早期干预可带来最佳的长期结果，但医疗保健提供者通常提供的有关这些问题的信息不足，并且该人群未充分利用精神科服务。我们在接受精神病学遗传咨询 (pGC) 一个月后对 22qDS 儿童的父母进行了半结构化访谈，以评估 pGC 对父母需求的结果和感知价值。使用扎根理论，我们建立了父母对与 22qDS 相关的精神风险意识以及心理健康 (MH) 保护和管理策略的过程的理论框架。父母描述了在他们的孩子被诊断出患有 22qDS 后，各种障碍阻碍了他们对精神病风险和保护/管理策略的认识：处理 22qDS 的直接症状；孩子年纪小；父母的恐惧和耻辱；并且缺少 MH 指导。这些障碍使他们承担了担心错过新出现的精神症状的负担，以及为孩子的 MH 辩护的压力。父母表示 pGC 是有益的，因为这使他们获得了“行动意识”，对保持警觉并有能力保护和/或管理孩子的 MH 充满信心。这些障碍使他们承担了担心错过新出现的精神症状的负担，以及为孩子的 MH 辩护的压力。父母表示 pGC 是有益的，因为这使他们获得了“行动意识”，对保持警觉并有能力保护和/或管理孩子的 MH 充满信心。这些障碍使他们承担了担心错过新出现的精神症状的负担，以及为孩子的 MH 辩护的压力。父母表示 pGC 是有益的，因为这使他们获得了“行动意识”，对保持警觉并有能力保护和/或管理孩子的 MH 充满信心。