Reisinger Debra L, Shaffer Rebecca C, Tartaglia Nicole, Berry-Kravis Elizabeth, Erickson Craig A
Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA.
Brain Sci. 2020 Apr 17;10(4):239. doi: 10.3390/brainsci10040239.
Restricted repetitive behaviors (RRBs) are a core area of impairment in autism spectrum disorder (ASD), but also affect several other neurodevelopmental disorders including fragile X syndrome (FXS). Current literature has begun to describe the RRB profile in FXS up through adolescence; however, little is known about the subtypes of RRBs in adolescents and adults. Further, literature on the RRB profile of females with FXS is limited. The present study examines the RRB profile across subtypes and specific items in both males and females with FXS while assessing for differences based on age, ASD diagnosis and the impact of IQ. Participants included 154 individuals with FXS (ages 2 to 50 years old). Results revealed a peak in RRB severity in FXS between 7-12 years for the majority of RRB subscales with the exception of Sensory-Motor behaviors peaking between 2 and 12 years before declining. Distinct RRB profiles in males and females with FXS emerged in addition to significant overlap among the item and subscale levels of RRBs across gender. Further, an added diagnosis of ASD significantly increased rates of RRBs across all subscale levels, but not necessarily across all items. Lastly, IQ did not solely account for the presence of RRBs in FXS, with Sensory-Motor behaviors being driven by comorbid ASD in males with FXS, and Restricted Interest behaviors being driven by comorbid ASD regardless of gender. These findings build on the current understanding of RRBs in FXS based on gender and comorbid ASD and lay important groundwork for the development of targeted behavioral and pharmacological treatments.
受限重复行为（RRBs）是自闭症谱系障碍（ASD）损害的一个核心领域，但也影响包括脆性X综合征（FXS）在内的其他几种神经发育障碍。当前文献已开始描述FXS患者直至青春期的RRB概况；然而，对于青少年和成人RRBs的亚型知之甚少。此外，关于FXS女性患者RRB概况的文献有限。本研究调查了患有FXS的男性和女性患者各亚型和特定项目的RRB概况，同时评估基于年龄、ASD诊断以及智商影响的差异。参与者包括154名FXS患者（年龄在2至50岁之间）。结果显示，除感觉运动行为在2至12岁达到峰值后下降外，大多数RRB子量表中，FXS患者的RRB严重程度在7至12岁达到峰值。除了RRBs的项目和子量表水平在性别之间存在显著重叠外，FXS男性和女性患者还出现了不同的RRB概况。此外，额外诊断为ASD显著增加了所有子量表水平的RRBs发生率，但不一定是所有项目。最后，智商并不能完全解释FXS患者中RRBs的存在，感觉运动行为在患有FXS的男性中由共病的ASD驱动，而受限兴趣行为无论性别均由共病的ASD驱动。这些发现基于当前对FXS患者中RRBs基于性别和共病ASD的理解，为针对性行为和药物治疗的发展奠定了重要基础。
