Italian Dominantly Inherited Alzheimer’s and Frontotemporal Network (IT-DIAfN) dataset

Aim: To evaluate the psychological impact of predictive genetic testing in individuals at-risk for inherited dementia who underwent a structured counselling and testing protocol.
Methods: Participants were healthy at-risk relatives from families with at least one affected patient, in whom a disease-associated genetic variant had been ascertained. A comprehensive psychological assessment (personality, anxiety and depression, quality of life, coping strategies, resilience and health-related beliefs) was administered at baseline, at six- and 12-months follow-up.
Results: Twenty-four participants from 13 families with were included. Sixteen participants underwent blood sampling and genetic analysis, while 8 withdrew. Six resulted carriers of the pathogenic variant (2 for Alzheimer’s disease, 4 for frontotemporal dementia). They had higher score on the Resilience Scale for Adults (RSA) - social competence, and on Multidimensional Health Locus of Control – internal, than non-carriers (p=0.03 for both). Ten at-risk relatives who completed the follow-up showed improvement in RSA - planned future (p=0.01) with respect to baseline.
Discussion: Our clinical series showed that at-risk individuals undergoing predictive testing showed benefit on personal life and no detrimental impact on a broad range of psychological outcomes. Higher social skills and lower internal health locus of control in carriers may be an early psychological correlate of preclinical dementia.

研究目的：评估接受结构化咨询与检测方案（structured counselling and testing protocol）的遗传性痴呆（inherited dementia）高危个体，接受预测性基因检测（predictive genetic testing）后的心理影响。
研究方法：研究对象为来自至少1名确诊患者家庭的健康高危亲属，该类家庭已明确存在疾病相关遗传变异（disease-associated genetic variant）。分别在基线、6个月及12个月随访时，对受试者开展综合心理评估（comprehensive psychological assessment），涵盖人格、焦虑与抑郁、生活质量、应对策略、心理韧性（resilience）及健康相关信念等维度。
研究结果：本研究共纳入来自13个家庭的24名参与者。其中16名受试者完成血液采样与基因分析（blood sampling and genetic analysis），8名受试者中途退出。6名受试者检出致病性变异（pathogenic variant），其中2例对应阿尔茨海默病（Alzheimer’s disease），4例对应额颞叶痴呆（frontotemporal dementia）。与非携带者相比，该6名携带者在成人心理韧性量表（Resilience Scale for Adults, RSA）的社交能力维度，以及多维健康控制点量表（Multidimensional Health Locus of Control）的内控性维度得分更高（两者p值均为0.03）。完成随访的10名高危亲属，其RSA量表未来规划维度得分较基线有所提升（p=0.01）。
讨论：本临床队列显示，接受预测性基因检测的高危个体，其个人生活获益且未在广泛的心理结局指标上出现不良影响。携带者更高的社交能力与更低的内控性健康控制点，或为临床前痴呆（preclinical dementia）的早期心理相关特征。