Psychomotor, cognitive, and socio-emotional developmental profiles of children with Rubinstein-Taybi Syndrome and a severe intellectual disability

ABSTRACT

Background: Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterised by several typical somatic characteristics and by developmental disabilities with various degrees of severity. Focusing on children with RSTS, the aim of this study was to describe their psychomotor, cognitive, and socio-emotional developmental profiles.

Method: Twenty-three children with RSTS (12 boys; 11 girls; mean chronological age: 4 years and 10 months) with severe intellectual disability (mean developmental quotient = 32.39) were recruited from an Expert Department of Medical Genetics. Developmental assessments were carried out with the Brunet-Lézine-Revised scale and the Social Cognitive Evaluation Battery.

Results: The participants’ developmental profiles were characterised by heterogeneous psychomotor development, homogeneous cognitive and socio-emotional development, by more severe delays in expressive language, vocal imitation, and symbolic play skills, and by better developmental levels in socio-emotional abilities.

Conclusions: Based on these atypical developmental profiles, early interventions should target the three most delayed abilities.

KEYWORDS:

• Severe intellectual disability
• Rubinstein-Taybi syndrome
• expressive language delay
• symbolic play delay
• atypical developmental profile
• intervention targets

Acknowledgements

We would like to thank the patients and their families for their participation in the study, as well as the French Rubinstein-Taybi Syndrome Association. Developmental and quantitative diagnostic data collection: EmT, DL. Study design: EmT, JLA, ET, DL, GM. Data analysis: ET, JLA, EmT; Writing: JLA, EmT, ET, DL, JVG, PF, GM. All authors have read and approved this final manuscript.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Availability of data and materials

The data used and analysed during this study are available from the first three authors and the final author on request.

Additional information

Funding

Grants were obtained from the French Ministry of Health (APN/PHRC national 2011 Rubival), and the French Rubinstein-Taybi Syndrome Foundation (Under the aegis of the Foundation of France).