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

Neelam Awan, Effie Pearson, Lauren Shelley, Joanne Tarver, Courtney Greenhill, Jane Waite*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review


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.
Original languageEnglish
Pages (from-to)2536-2554
Number of pages19
JournalAmerican Journal of Medical Genetics Part A
Issue number9
Early online date21 Jun 2022
Publication statusPublished - Sept 2022

Bibliographical note

© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.

This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.


  • Rubinstein–Taybi syndrome
  • behavioral phenotype
  • cognition
  • mental health
  • socio-communication


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