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The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database

journal contribution
posted on 06.12.2017, 00:00 by L Robertson, Sonja HallSonja Hall, P Jacoby, C Ellaway, N de Klerk, H Leonard
This study compared the behaviour profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome Behaviour Questionnaire (RSBQ) then examined behavioural patterns as measured by the RSBQ by genetic status. There were 145 Australian cases meeting the criteria for the first arm of the study and 135 for the second arm. Comparison of the scores obtained from the British and Australian cohorts indicated that the RSBQ was a satisfactory measure for describing behaviours in Rett syndrome (RS). Overall, there were some differences amongst the behaviour patterns of cases with the well-known common mutations. Fear/anxiety was more commonly reported in those with R133C and R306C. Those with the R294X mutation were more likely to have mood difficulties and body rocking but less likely to have hand behaviours and to display repetitive face movements. In contrast, hand behaviours were more commonly reported in those with R270X or R255X. We found the RSBQ is an appropriate instrument for measuring behaviour in girls with RS. Some behaviours differ according to genetic mutation but there is both inter and intra mutation variation in behaviour and there is a need for larger studies involving international collaboration to improve statistical power.

Funding

Category 1 - Australian Competitive Grants (this includes ARC, NHMRC)

History

Volume

141B

Issue

2

Start Page

177

End Page

183

Number of Pages

7

eISSN

1552-485X

ISSN

1552-4841

Location

United States

Publisher

Wiley

Language

en-aus

Peer Reviewed

Yes

Open Access

No

External Author Affiliations

Children's Hospital at Westmead; Telethon Institute for Child Health Research; University of Western Australia;

Era Eligible

No

Journal

American journal of medical genetics. Part B, Neuropsychiatric genetics.

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