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The Rett syndrome behaviour questionnaire (RSBQ) : refining the behavioural phenotype of Rett syndrome

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Mount, Rebecca H., Charman, Tony, Hastings, Richard P., Reilly, Sheena and Cass, Hilary (2002) The Rett syndrome behaviour questionnaire (RSBQ) : refining the behavioural phenotype of Rett syndrome. Journal of Child Psychology and Psychiatry, Volume 43 (Number 8). pp. 1099-1110. doi:10.1111/1469-7610.00236

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Official URL: http://dx.doi.org/10.1111/1469-7610.00236

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Abstract

Background: Although physical features, including loss of hand skills, deceleration of head growth, spasticity and scoliosis, are cardinal features of Rett syndrome (RS), a number of behavioural features are also associated with the disorder, including hand stereotypies, hyperventilation and breath holding. No study has tested the specificity of these behavioural features to individuals with RS, compared to individuals with severe to profound mental retardation (SMR).

Method: A novel checklist of characteristic RS behavioural and emotional features, the Rett Syndrome Behaviour Questionnaire (RSBQ), was developed to test the type and specificity of behavioural features of RS against those found in girls with SMR.

Results: After controlling for the effects of RS-related physical disabilities, the RSBQ discriminated between the groups. Some aspects of the behaviours found to be specific to RS are included in the necessary or supportive RS diagnostic criteria, notably hand behaviours and breathing problems. Additional behavioural features were also more frequently reported in the RS than the SMR group, including mood fluctuations and signs of fear/anxiety, inconsolable crying and screaming at night, and repetitive mouth and tongue movements and grimacing.

Conclusions: Full validation of the scale requires confirmation of its discriminatory power and reliability with independent samples of individuals with RS and SMR. Further delineation of the specific profile of behaviours seen in RS may help in identification of the function of the MECP2 gene and in improved differential diagnosis and management of individuals with RS.

Item Type: Journal Article
Divisions: Faculty of Social Sciences > Centre for Educational Development, Appraisal and Research (CEDAR)
Journal or Publication Title: Journal of Child Psychology and Psychiatry
Publisher: Wiley-Blackwell Publishing Ltd.
ISSN: 0021-9630
Official Date: November 2002
Dates:
DateEvent
November 2002Published
Volume: Volume 43
Number: Number 8
Page Range: pp. 1099-1110
DOI: 10.1111/1469-7610.00236
Status: Peer Reviewed
Publication Status: Published
Access rights to Published version: Restricted or Subscription Access

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