News & Publications

News highlights and publications relevant to RettSearch will continue to be listed here so please keep checking back for the latest news and updates.

RETTSEARCH NEWS:

RettSearch Executive Committee Member Honored
We would like to congratulate Dr. John Christodoulou, who was recently appointed a Member of the Order of Australia on January 26, 2010, Australia Day. The award was granted “for service to human genetics, particularly the metabolic disorders of children as a researcher and clinician."
Management of Scoliosis in Rett Syndrome Project
To increase awareness of scoliosis in Rett Syndrome, we have written a booklet and a leaflet addressing this important issue. The booklet was published with financial support from the Rett Syndrome Association of Australia and the International Rett Syndrome Foundation. You can also access a pdf of the booklet and leaflet at https://interrett.ichr.uwa.edu.au.

We have published our guidelines in Spine! The published paper is available to members only, and can be found at ./Outcome/files/Guidelines_Management_Scoliosis_Spine_34_607.pdf

Downs J, Bergman A, Carter P, Anderson A, Palmer GM, Roye D, van Bosse H, Bebbington A, Larsson EL, Smith BG, Baikie G, Fyfe S, Leonard H. Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence. Spine (Phila Pa 1976). 2009 Aug 1;34(17):E607-17.

RETT RESEARCH ARTICLES AND PUBLICATIONS:

Neurology. 2009. Zeev BB, Bebbington A, Ho G, Leonard H, de Klerk N, Gak E, Vecksler M, Christodoulou J. The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome.

This publication by Zeev and colleagues examines the association between the disease severity score and BDNF polymorphism. The authors found that those who were heterozygous (Val/Met) had slightly more severe disease than those who were homozygous for the wild-type (Val/Val) BDNF polymorphism (increased severity score 2.1, p = 0.09). They also found that in those with p.R168X, a commonly occurring MECP2 mutation in RTT, there was a 6-point increase in severity score for those who were heterozygous for the BDNF polymorphism, both unadjusted (p = 0.02) and adjusted for age (p = 0.03). Individuals with the p.R168X mutation and heterozygous for the BDNF polymorphism were also at an increased risk of seizure onset (hazard ratio 5.3, 95% confidence interval 1.6-17.7) compared with those homozygous for the wild-type BDNF allele. Read the full article... (This article is available to members only)
RettSearch's library is available to all members (only). Here you will find PDF's of scholarly articles related to Rett syndrome organized by topic. We are continuing to update this library.
(This section is available to members only)