Caregiver Perspectives on a Child's Diagnosis of 3q29 Deletion: "We Can't Just Wish This Thing Away".
Caregiver Perspectives on a Child's Diagnosis of 3q29 Deletion: "We Can't Just Wish This Thing Away".
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DOI：
10.1097/dbp.0000000000000977
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发表时间：
2022-02-01
期刊：
影响因子：
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通讯作者：
Emory 3q29 Project,*
中科院分区：
文献类型：
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作者：
Glassford MR;Purcell RH;Pass S;Murphy MM;Bassell GJ;Mulle JG;Emory 3q29 Project,*
在智力残疾和发育迟缓的病例中，基因诊断越来越常见。虽然确定一个相对常见的，经过充分研究的变异可能会提供与治疗和发展预期相关的指导，但尚不清楚罕见变异的诊断如何影响护理人员，特别是当表型可能包括晚发型表现，如精神病时。在目前的研究中，我们试图确定照顾者关注的第一个定性研究，以评估诊断的心理社会影响的照顾者的个人与3q29缺失综合征（3q29Del），这是与40倍的风险增加精神病。参与者从埃默里大学的国家3q29Del登记处招募（3q29deletion.org）。15名参与者完成了一个半结构化的电话采访，在此期间，他们被问及他们的经验之前，期间和之后，他们的孩子收到了3q29Del的诊断。访谈的反应进行了分析，使用一般归纳法，并确定了总体主题。我们确定了以下总体主题：困难的“诊断奥德赛”，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，医疗专业人员通常不会透露未来患精神病的风险，这与22 q11.2缺失综合征患者的经历一致。这些结果突出了潜在的差距，如何照顾者被告知成人发病的疾病的风险，并指出关键照顾者的问题，考虑在诊断3q29Del。
Genetic diagnoses are increasingly common in cases of intellectual disability and developmental delay. While 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 impacts caregivers, especially when the phenotype may include later onset manifestations such as psychosis. In the current 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 semi-structured 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 point to key caregiver concerns for consideration in diagnosis of 3q29Del.