Rubinstein-Taybi综合征(RTS)是一种与生长延迟相关的罕见遗传综合征,表型面部特征,小头畸形,发育迟缓,宽阔的拇指,和大脚趾。大多数关于RTS的研究都集中在基因型和身体表型上;然而,一些研究描述了行为,认知,社会,和情感特征,阐明RTS的行为表型。本审查的报告由PRISMA指南提供信息。CINAHL的系统搜索,Medline,和PsychINFO于2021年3月进行,以确定描述行为的小组研究,认知,情感,精神病学,和RTS中的社会特征。对这些研究进行了质量评价。报告的特征包括重复行为,挑战的行为,智力残疾,心理健康困难,自闭症的特点,和提高社交能力。研究结果在各研究中基本一致,表明许多特征可能构成RTS行为表型的一部分。然而,方法上的局限性,例如缺乏适当的比较组和测量不一致会削弱这些结论。需要多学科研究,在单一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。
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.