Fitzgerald Jacqueline, Gallagher Louise
8809Trinity College Dublin, Ireland.
8809Trinity College Dublin, Ireland; Children Health Ireland at Tallaght Hospital, Ireland; Cherry Orchard Hospital, Ireland.
J Intellect Disabil. 2021 Apr 19;26(2):1744629521995378. doi: 10.1177/1744629521995378.
Chromosomal abnormalities are now considered a common cause of intellectual disability. With increased genetic testing, phenotyping and technological advancements, many new syndromes have been identified. This review sought to explore parental stress and adjustment in the context of rare genetic syndromes to evaluate their clinical impact. A systematic review of English peer-reviewed literature across three databases (PsycINFO, Medline, CINAHL) was completed and 69 articles were included. Parents of children with rare genetic syndromes experienced greater distress relative to other disabilities. Differences in parental wellbeing were syndrome-specific relative to ASD thus demonstrating the need to consider the contribution of syndrome-specific phenotypes. Child emotional and behavioural difficulties were the most consistent predictor of parental distress. Research reflecting other factors such as physical health, syndrome-specific behaviours, benefit finding and, parental appraisal in the context of a rare genetic aetiology is required in order to support parental adjustment in these conditions.
染色体异常现在被认为是智力残疾的常见原因。随着基因检测、表型分析和技术进步的增加，许多新的综合征已被识别。本综述旨在探讨罕见遗传综合征背景下的父母压力和适应情况，以评估其临床影响。对三个数据库（PsycINFO、Medline、CINAHL）中的英文同行评审文献进行了系统综述，共纳入69篇文章。与其他残疾相比，患有罕见遗传综合征儿童的父母经历了更大的痛苦。相对于自闭症谱系障碍（ASD），父母幸福感的差异具有综合征特异性，因此表明需要考虑综合征特异性表型的影响。儿童的情绪和行为困难是父母痛苦最一致的预测因素。为了支持父母在这些情况下的适应，需要开展反映其他因素的研究，如身体健康、综合征特异性行为、益处发现以及罕见遗传病因背景下的父母评估。
