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Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome

Cédric Galéra1, Emmanuelle Taupiac, Sonia Fraisse

  • 1Child Psychiatry Department, Centre Hospitalier Charles-Perrens, University Victor Segalen, Bordeaux 2, France. cedric.galera@u-bordeaux2.fr

Journal of Autism and Developmental Disorders
|April 8, 2009
PubMed

Insights

Children with Rubinstein-Taybi syndrome (RTS) do not show increased internalizing or externalizing behaviors. However, they exhibit specific traits like short attention span and motor stereotypies, potentially linked to CREBBP gene abnormalities.

Area of Science:

  • Neurodevelopmental Disorders
  • Genetics
  • Child Psychology

Background:

  • Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder associated with developmental delays and distinctive physical features.
  • Previous research suggested potential behavioral patterns, including autistic features, in children with RTS.
  • Understanding the specific behavioral profile of RTS is crucial for targeted interventions.

Purpose of the Study:

  • To investigate the behavioral characteristics of children with Rubinstein-Taybi syndrome.
  • To compare behavioral problems in children with RTS to a matched control group.
  • To explore potential correlations between CREBBP gene abnormalities and specific behaviors in RTS.

Main Methods:

  • A cohort of 39 children with RTS and 39 age, gender, and developmental level-matched controls participated.
  • Caregiver-administered assessments included the Child Behavior Checklist and the Children's Social Behavior Questionnaire.
  • Genetic analysis identified CREBBP gene abnormalities in 49% of the RTS cohort.

Main Results:

  • Children with RTS did not exhibit significantly higher rates of internalizing (affective, anxiety) or externalizing (disruptive) behavioral problems than expected.
  • Specific behavioral patterns observed in RTS included short attention span, motor stereotypies, poor coordination, and overweight.
  • A potential association was found between CREBBP gene abnormality and motor difficulties, possibly due to impaired motor skill learning.

Conclusions:

  • Children with Rubinstein-Taybi syndrome do not present with generalized behavioral issues but rather specific behavioral and motor challenges.
  • The findings suggest that motor difficulties in RTS may be linked to genetic factors, specifically CREBBP gene abnormalities.
  • Further research is warranted to elucidate the neurobiological underpinnings of these specific behaviors in RTS.

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