The behavioral phenotype of Rubinstein-Taybi syndrome: A scoping review of the literature

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.

Keywords: Rubinstein-Taybi syndrome; behavioral phenotype; cognition; mental health; socio-communication.

Publication types

  • Review
  • Systematic Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genotype
  • Humans
  • Intellectual Disability* / complications
  • Intellectual Disability* / genetics
  • Phenotype
  • Rubinstein-Taybi Syndrome* / complications
  • Rubinstein-Taybi Syndrome* / genetics