Walinga Margreet, Jesse Sarah, Alhambra Norma, Van Buggenhout Griet
University of Groningen, University Medical Center Groningen, Dept. Genetics, Groningen, the Netherlands.
University of Ulm, Department of Neurology, Ulm, Germany.
Eur J Med Genet. 2023 May;66(5):104726. doi: 10.1016/j.ejmg.2023.104726. Epub 2023 Feb 14.
Altered sensory functioning is often observed in individuals with SHANK3 related Phelan-McDermid syndrome (PMS). Compared to typically developing individuals and individuals with an autism spectrum disorder, it has been suggested that there are distinctive features of sensory functioning in PMS. More hyporeactivity symptoms and less hyperreactivity and sensory seeking behaviour are seen, particularly in the auditory domain. Hypersensitivity to touch, possible overheating or turning red easily and reduced pain response are often seen. In this paper the current literature on sensory functioning in PMS is reviewed and recommendations for caregivers, based on consensus within the European PMS consortium, are given.
在患有与SHANK3相关的费兰-麦克德米德综合征（PMS）的个体中，经常观察到感觉功能改变。与正常发育的个体以及患有自闭症谱系障碍的个体相比，有人提出PMS在感觉功能方面具有独特特征。尤其是在听觉领域，出现更多的反应减退症状，而反应过度和感觉寻求行为较少。经常可见对触摸过敏、可能容易过热或变红以及疼痛反应减弱的情况。本文回顾了目前关于PMS感觉功能的文献，并根据欧洲PMS联盟的共识，为护理人员提供了建议。
