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:

DSM-5 and Rett syndrome
The proposed revisions to the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) guidelines, to be released in May 2013, are currently in a feedback period until April 20th. During this period, clinicians, researchers, and affected individuals and families can provide comments. For this reason, it is important to clarify how the proposed changes will affect Rett syndrome:

The current guidelines (DSM-IV) list Rett syndrome as one of four specific Pervasive Developmental Disorders, a term that refers to autistic disorders.
Under the new guidelines (DSM-5), Rett syndrome will not be a specific autistic disorder. An individual with Rett syndrome and autistic disorder will be diagnosed as "Autism Spectrum Disorder associated with MECP2 mutations (or associated with Rett syndrome)".
These changes were based on an exhaustive review of the literature and the consideration that Rett syndrome is not different from fragile X syndrome or other genetic disorders, in terms of its relationship with autism.
Thus, an individual with Rett syndrome who does not meet criteria for Autism Spectrum Disorder will not receive a DSM diagnosis unless other mental health disorders are present (e.g., anxiety, depression).
The DSM guidelines are primarily for psychiatric disorders; therefore, any DSM change will not affect neurologic diagnoses or guidelines. Neurologists tend to predominantly use ICD (WHO) codes, which will only be modified in the psychiatric domain to be aligned with DSM-5.
The RettSearch membership was consulted regarding the DSM changes and the vast majority agreed on them. However, Rett clinicians also realized that it is critical to obtain a unique ICD code for Rett syndrome (currently, generic codes as those for Cerebral Degeneration are mainly used). RettSearch will pursue such a code through a formal application process.
The RettSearch membership thinks that the proposed DSM changes will not affect delivery of services, since any individual with Rett syndrome who needs autism-related services will be able to obtain them through the primary diagnostic label of Autism Spectrum Disorder. RettSearch members also think that a unique ICD code will be greatly beneficial for affected individuals, differentiating them from others with different developmental disorders.

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:

Epilepsy Res. 2010. Specchio N, Balestri M, Striano P, Cilio MR, Nardello R, Patanè S, Margiotta ML, D'Orsi G, Striano S, Russo S, Specchio LM, Cusmai R, Fusco L, Vigevano F. Efficacy of levetiracetam in the treatment of drug-resistant Rett syndrome.

This publication by Specchio and colleagues examines the efficacy of levetiracetam in RTT patients with medically refractory epilepsy. Their prospective, pragmatic, open-label study consisted of an 8-week baseline period and a 6-month evaluation period. Efficacy was measured by the mean frequency of monthly seizures before and after 3 and 6 months of treatment. Eight female patients, all with MeCP2 mutation, participated in the study. Patients had been treated with a mean 3.4 AEDs (2-7) before the levetiracetam treatment. Mild sleepiness occurred in two subjects and one subject reported intermittent agitation. All individuals reported a reduction in seizure frequency, and, as such, a better quality of life. 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)