Programme Leader Track and Honorary Consultant in Clinical Genetics, MRC Cognition and Brain Sciences Unit, University of Cambridge, UK.
Lecturer in Developmental Psychology, School of Psychology, University of Birmingham, UK.
Br J Psychiatry. 2021 Jun;218(6):315-322. doi: 10.1192/bjp.2020.38.
Intellectual disability has a complex effect on the well-being of affected individuals and their families. Previous research has identified multiple risk and protective factors for parental mental health, including socioeconomic circumstances and child behaviour.
This study explored whether genetic cause of childhood intellectual disability contributes to parental well-being.
Children from across the UK with intellectual disability due to diverse genetic causes were recruited to the IMAGINE-ID study. Primary carers completed the Development and Well-being Assessment, including a measure of parental distress (Everyday Feeling Questionnaire). Genetic diagnoses were broadly categorised into aneuploidy, chromosomal rearrangements, copy number variants (CNVs) and single nucleotide variants.
Compared with the UK general population, IMAGINE-ID parents (n = 888) reported significantly elevated emotional distress (Cohen's d = 0.546). Within-sample variation was related to recent life events and the perceived impact of children's difficulties. Impact was predicted by child age, physical disability, autistic characteristics and other behavioural difficulties. Genetic diagnosis also predicted impact, indirectly influencing parental well-being. Specifically, CNVs were associated with higher impact, not explained by CNV inheritance, neighbourhood deprivation or family structure.
The mental health of parents caring for a child with intellectual disability is influenced by child and family factors, converging on parental appraisal of impact. We found that genetic aetiologies, broadly categorised, also influence impact and thereby family risks. Recognition of these risk factors could improve access to support for parents, reduce their long-term mental health needs and improve well-being of individuals with intellectual disability.
智力障碍对患者及其家庭的福祉有复杂的影响。先前的研究已经确定了多个与父母心理健康相关的风险和保护因素，包括社会经济状况和儿童行为。
本研究探讨儿童智力障碍的遗传原因是否会影响父母的幸福感。
从英国各地招募了患有多种遗传原因导致智力障碍的儿童参加 IMAGINE-ID 研究。主要照顾者完成了发展和幸福感评估，包括父母痛苦的衡量标准（日常感觉问卷）。遗传诊断大致分为非整倍体、染色体重排、拷贝数变异 (CNV) 和单核苷酸变异。
与英国一般人群相比，IMAGINE-ID 父母（n=888）报告的情绪困扰明显更高（Cohen's d=0.546）。样本内的变化与近期生活事件和儿童困难的感知影响有关。影响由儿童年龄、身体残疾、自闭症特征和其他行为困难预测。遗传诊断也预测了影响，间接影响了父母的幸福感。具体来说，CNV 与更高的影响相关，无法用 CNV 遗传、邻里剥夺或家庭结构来解释。
照顾智力障碍儿童的父母的心理健康受到儿童和家庭因素的影响，这些因素都集中在父母对影响的评估上。我们发现，广义分类的遗传病因也会影响影响，从而影响家庭风险。认识到这些风险因素可以改善父母获得支持的机会，减少他们的长期心理健康需求，并提高智力障碍个体的幸福感。
