School of Life Sciences and Education, Staffordshire University, Stoke-on-Trent, UK.
School of Psychology, College of Health and Life Sciences, Aston University, Birmingham, UK.
Am J Med Genet A. 2022 Sep;188(9):2536-2554. doi: 10.1002/ajmg.a.62867. Epub 2022 Jun 21.
Rubinstein-Taybi syndrome (RTS) is a rare genetic syndrome associated with growth delay, phenotypic facial characteristics, microcephaly, developmental delay, broad thumbs, and big toes. Most research on RTS has focused on the genotype and physical phenotype; however, several studies have described behavioral, cognitive, social, and emotional characteristics, elucidating the behavioral phenotype of RTS. The reporting of this review was informed by PRISMA guidelines. A systematic search of CINAHL, Medline, and PsychINFO was carried out in March 2021 to identify group studies describing behavioral, cognitive, emotional, psychiatric, and social characteristics in RTS. The studies were quality appraised. Characteristics reported include repetitive behavior, behaviors that challenge, intellectual disability, mental health difficulties, autism characteristics, and heightened sociability. Findings were largely consistent across studies, indicating that many characteristics are likely to form part of the behavioral phenotype of RTS. However, methodological limitations, such as a lack of appropriate comparison groups and inconsistency in measurement weaken these conclusions. There is a need for multi-disciplinary studies, combining genetic and psychological measurement expertise within single research studies. Recommendations are made for future research studies in RTS.
鲁宾斯坦-泰比综合征（RTS）是一种罕见的遗传综合征，与生长迟缓、面部特征异常、小头畸形、发育迟缓、拇指和大脚趾宽大有关。大多数关于 RTS 的研究都集中在基因型和身体表型上；然而，有几项研究描述了行为、认知、社会和情感特征，阐明了 RTS 的行为表型。本综述的报告遵循 PRISMA 指南。2021 年 3 月，对 CINAHL、Medline 和 PsychINFO 进行了系统检索，以确定描述 RTS 行为、认知、情感、精神和社会特征的群组研究。对研究进行了质量评估。报告的特征包括重复行为、挑战性行为、智力障碍、心理健康困难、自闭症特征和社交能力增强。研究结果基本一致，表明许多特征可能构成 RTS 行为表型的一部分。然而，方法学上的限制，如缺乏适当的对照组和测量的不一致性，削弱了这些结论。需要进行多学科研究，在单个研究中结合遗传和心理测量专业知识。对 RTS 的未来研究提出了建议。
