Department of Pediatrics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands; Prinsenstichting, Kwadijkerpark 8, 1444 JE Purmerend, the Netherlands.
Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, Laan Corpus Den Hoorn 102, 9728 JR Groningen, the Netherlands.
Neurosci Biobehav Rev. 2018 Jan;84:483-491. doi: 10.1016/j.neubiorev.2017.02.027. Epub 2017 Jul 8.
Self-injurious behavior (SIB) is a relatively common behavior in individuals with intellectual disabilities (ID). Severe SIB can be devastating and potentially life-threatening. There is increasing attention for somatic substrates of behavior in genetic syndromes, and growing evidence of an association between pain and discomfort with SIB in people with ID and genetic syndromes. In this review on SIB phenomenology in people with ID in general and in twelve genetic syndromes, we summarize different SIB characteristics across these etiologically distinct entities and identify influencing factors. We demonstrate that the prevalence of SIB in several well-known genetic intellectual disability syndromes is noticeably higher than in individuals with ID in general, and that characteristics such as age of onset and topographies differ widely across syndromes. Each syndrome is caused by a mutation in a different gene, and this allows detection of several pathways that lead to SIB. Studying these with the behavioral consequences as specific aim will be an important step toward targeted early interventions and prevention.
自伤行为(SIB)是智力障碍(ID)个体中较为常见的行为。严重的 SIB 可能具有破坏性,甚至可能危及生命。人们越来越关注遗传综合征中行为的躯体基础,并且越来越多的证据表明,在 ID 和遗传综合征患者中,疼痛和不适与 SIB 之间存在关联。在这篇关于 ID 一般人群和 12 种遗传综合征中 SIB 现象学的综述中,我们总结了这些病因不同的实体中不同的 SIB 特征,并确定了影响因素。我们证明,在一些众所周知的遗传性智力障碍综合征中,SIB 的患病率明显高于 ID 一般人群,而且发病年龄和类型在各综合征之间差异很大。每个综合征都是由不同基因的突变引起的,这使得我们可以检测到导致 SIB 的几种途径。将这些行为的后果作为特定目标进行研究,将是朝着有针对性的早期干预和预防迈出的重要一步。