Raspa Melissa, Wylie Amanda, Wheeler Anne C, Kolacz Jacek, Edwards Anne, Heilman Keri, Porges Stephen W
RTI International, Durham, NC, United States.
Traumatic Stress Research Consortium, Kinsey Institute, Indiana University Bloomington, Bloomington, IN, United States.
Front Genet. 2018 Aug 28;9:351. doi: 10.3389/fgene.2018.00351. eCollection 2018.
Abnormal sensory processing is one of the core characteristics of the fragile X phenotype. Studies of young children with fragile X syndrome (FXS) and the FMR1 premutation have shown sensory challenges as early as infancy and into early childhood. This study sought to examine differences in sensory difficulties in children with an FMR1 premutation compared with children with FXS and typically developing children. We conducted an online survey of 176 parents of affected children (FXS or FMR1 premutation). Most respondents were mothers who are Caucasian (86%), have a 4-year college or graduate degree (68%), and are married (92%). Children ranged in age from 5 to 18, with a mean age of 13.0 years (3.3 SD). Participants completed the BBC Sensory Scales, a 50-item Likert-type scale (1 = Almost Always, 4 = Almost Never) comprised of 8 subscales that assessed auditory processing, visual processing, tactile processing, and eating and feeding behaviors. Mean scores were calculated for the items and each of the subscales. Non-parametric tests examined differences in child and family-level variables. Across all BBCSS subscales, children with an FMR1 premutation displayed more sensory challenges than typically developing children. For six out of the eight subscales, children with the full mutation had the lowest scores indicating more sensory challenges, but this was closely followed by children with an FMR1 premutation. Fragile X status was associated with seven of the eight subscales; children with an FMR1 premutation did not differ from children with FXS on any of the subscales but had more digestive problems than children with no fragile X. Gender, autism status, and family income were also related to sensory sensitivities. In conclusion, these data provide further evidence that some children with an FMR1 premutation experience sensory difficulties that are similar to children with FXS but different than typically developing children.
异常的感觉处理是脆性X综合征表型的核心特征之一。对脆性X综合征（FXS）和FMR1前突变幼儿的研究表明，早在婴儿期和幼儿期就存在感觉方面的挑战。本研究旨在探讨与FXS患儿和发育正常儿童相比，FMR1前突变儿童在感觉困难方面的差异。我们对176名受影响儿童（FXS或FMR1前突变）的父母进行了在线调查。大多数受访者是白人母亲（86%），拥有四年制大学或研究生学位（68%），且已婚（92%）。儿童年龄在5至18岁之间，平均年龄为13.0岁（标准差3.3）。参与者完成了BBC感觉量表，这是一个由50个项目组成的李克特式量表（1 = 几乎总是，4 = 几乎从不），由8个分量表组成，评估听觉处理、视觉处理、触觉处理以及进食和喂养行为。计算了各项目和每个分量表的平均分。非参数检验用于检验儿童和家庭层面变量的差异。在所有BBCSS分量表中，FMR1前突变儿童比发育正常儿童表现出更多的感觉挑战。在八个分量表中的六个中，完全突变的儿童得分最低，表明感觉挑战更多，但紧随其后的是FMR1前突变儿童。脆性X状态与八个分量表中的七个相关；FMR1前突变儿童在任何一个分量表上与FXS儿童没有差异，但比无脆性X儿童有更多的消化问题。性别、自闭症状态和家庭收入也与感觉敏感性有关。总之，这些数据提供了进一步的证据，表明一些FMR1前突变儿童经历的感觉困难与FXS儿童相似，但与发育正常儿童不同。
