Department of Human Genetics, Emory University School of Medicine, Atlanta GA; Ms. Glassford is now with the Department of Pediatric Genetics, University of Michigan, Ann Arbor, MI; Ms. Pass is now with the Anderson Cancer Center, University of Texas, Houston, TX.
Department of Cell Biology, Emory University School of Medicine, Atlanta, GA.
J Dev Behav Pediatr. 2022;43(2):e94-e102. doi: 10.1097/DBP.0000000000000977.
Genetic diagnoses are increasingly common in cases of intellectual disability and developmental delay. Although ascertainment of a relatively common, well-studied variant may provide guidance related to treatments and developmental expectations, it is less clear how the diagnosis of a rare variant affects caregivers, especially when the phenotype may include later-onset manifestations such as psychosis. In this study, we sought to identify caregiver concerns in the first qualitative study to assess the psychosocial impact of diagnosis on caregivers of individuals with 3q29 deletion syndrome (3q29Del), which is associated with a 40-fold increase in risk for psychosis.
Participants were recruited from the national 3q29Del registry housed at Emory University (3q29deletion.org). Fifteen participants completed a semistructured phone interview during which they were asked about their experiences before, during, and after their child received a diagnosis of 3q29Del. Interview responses were analyzed using the general inductive approach, and overarching themes were identified.
We identified the following overarching themes: difficult "diagnostic odyssey," mixed feelings about diagnosis, frustration with degree of uncertainty, and importance of resources. Importantly, our data suggest that future risk for psychosis is often not disclosed by medical professionals, consistent with the experience of individuals with 22q11.2 deletion syndrome.
These results highlight potential gaps in how caregivers are informed of risk for adult-onset conditions and indicate key caregiver concerns for consideration in the diagnosis of 3q29Del.
在智力障碍和发育迟缓的病例中，基因诊断越来越常见。虽然相对常见且研究充分的变异的确定可能为治疗和发育预期提供指导，但罕见变异的诊断如何影响护理人员尚不清楚，特别是当表型可能包括精神病等后期发病表现时。在这项研究中，我们试图确定照料者的关注点，这是第一项评估诊断对携带 3q29 缺失综合征（3q29Del）个体的照料者的心理社会影响的定性研究，3q29Del 与精神病风险增加 40 倍相关。
参与者是从位于埃默里大学（3q29deletion.org）的全国 3q29Del 登记处招募的。15 名参与者完成了半结构化电话访谈，在访谈中，他们被问及孩子被诊断为 3q29Del 之前、期间和之后的经历。使用一般归纳方法对访谈回复进行分析，并确定了总体主题。
我们确定了以下总体主题：艰难的“诊断探索”、对诊断的复杂感受、对不确定性程度的沮丧、以及资源的重要性。重要的是，我们的数据表明，未来发生精神病的风险通常不会被医疗专业人员透露，这与 22q11.2 缺失综合征患者的经历一致。
这些结果突出了护理人员了解成人发病情况风险的方式可能存在差距，并表明在诊断 3q29Del 时需要考虑关键的护理人员关注点。
