Miodrag N, Peters S
Department of Child and Adolescent Development, California State University, Northridge, California, USA.
Department of Pediatrics, Vanderbilt University, Nashville, Tennessee, USA.
J Intellect Disabil Res. 2015 Sep;59(9):816-26. doi: 10.1111/jir.12195. Epub 2015 Apr 1.
Parenting stress has been consistently reported among parents of children with developmental disabilities. However, to date, no studies have investigated the impact of a molecular subtype of Angelman syndrome (AS) on parent stress, despite distinct phenotypic differences among subtypes.
Data for 124 families of children with three subtypes of AS: class I and II deletions (n = 99), imprinting centre defects (IC defects; n = 11) and paternal uniparental disomy (UPD; n = 14) were drawn from the AS Rare Diseases Clinical Research Network (RDCRN) database and collected from five research sites across the Unites States. The AS study at the RDCRN gathered health information to understand how the syndrome develops and how to treat it. Parents completed questionnaires on their perceived psychological stress, the severity of children's aberrant behaviour and children's sleep patterns. Children's adaptive functioning and developmental levels were clinically evaluated.
Child-related stress reached clinical levels for 40% of parents of children with deletions, 100% for IC defects and 64.3% for UPD. Sleep difficulties were similar and elevated across subtypes. There were no differences between molecular subtypes for overall child and parent-related stress. However, results showed greater isolation and lack of perceived parenting skills for parents of children with UPD compared with deletions. Better overall cognition for children with deletions was significantly related to more child-related stress while their poorer adaptive functioning was associated with more child-related stress. For all three groups, the severity of children's inappropriate behaviour was positively related to different aspects of stress.
How parents react to stress depends, in part, on children's AS molecular subtype. Despite falling under the larger umbrella term of AS, it is important to acknowledge the unique aspects associated with children's molecular subtype. Identifying these factors can lead to tailored interventions that fit the particular needs of families of children with different AS subtypes.
发育障碍儿童的父母一直承受着养育压力。然而，迄今为止，尽管安吉尔曼综合征（AS）的分子亚型之间存在明显的表型差异，但尚无研究调查其对父母压力的影响。
从美国五个研究地点收集了来自安吉尔曼综合征罕见病临床研究网络（RDCRN）数据库的124个家庭的数据，这些家庭的孩子患有三种AS分子亚型：I类和II类缺失（n = 99）、印记中心缺陷（IC缺陷；n = 11）和父源单亲二体（UPD；n = 14）。RDCRN的AS研究收集了健康信息，以了解该综合征的发展过程和治疗方法。父母完成了关于他们感知到的心理压力、孩子异常行为的严重程度以及孩子睡眠模式的问卷调查。对孩子的适应性功能和发育水平进行了临床评估。
与孩子相关的压力在缺失型孩子的父母中达到临床水平的比例为40%，IC缺陷型孩子的父母为100%，UPD型孩子的父母为64.3%。各亚型的睡眠困难情况相似且有所增加。在总体与孩子及父母相关的压力方面，分子亚型之间没有差异。然而，结果显示，与缺失型孩子的父母相比，UPD型孩子的父母感到更加孤立，且缺乏养育技能。缺失型孩子较好的总体认知能力与更多与孩子相关的压力显著相关，而他们较差的适应性功能则与更多与孩子相关的压力相关。对于所有三组，孩子不当行为的严重程度与压力的不同方面呈正相关。
父母对压力的反应部分取决于孩子的AS分子亚型。尽管都属于AS这个大范畴，但认识到与孩子分子亚型相关的独特方面很重要。识别这些因素可以导致针对不同AS亚型孩子家庭的特定需求进行量身定制的干预措施。
