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.

NIH/NINDS now accepting NeuroNEXT applications from investigators considering Phase II trials in neurology/neurosurgery

RettSearch members who might be considering a Phase II trial in neurology and/or neurosurgery are invited to apply to NeuroNEXT. The first receipt date is December 2, 2011. There are three mechanisms available for potential applicants

Academic investigators may apply for cooperative agreement grants: NeuroNEXT Clinical Trials (U01)
Small businesses may apply for cooperative agreement grants NeuroNEXT Clinical Trials (U01) or through our Small Business program NeuroNEXT Small Business Innovation in Clinical Trials (U44)
Industry may apply for cooperative agreement grants NeuroNEXT Clinical Trials (U01) or apply for expedited access to the NeuroNEXT expertise and infrastructure through NeuroNEXT Infrastructure Resource Access (X01)

Please contact Elizabeth McNeil (mcneilde@ninds.nih.gov) to discuss your proposals or answer any questions about the program.

NIH Sponsors Upcoming Workshop: Setting Priorities for Therapy Development in Rett Syndrome

Sponsored by NIH (NINDS and NICHD) and private U.S. organizations supporting Rett syndrome research (IRSF and RSRT), this workshop will bring together investigators with expertise in the clinical features of Rett syndrome, Rett mouse models, and/or therapy development in other neurological disorders. With the recent steps toward translational and clinical research in Rett syndrome, the workshop addresses a critical need in the field to develop standards for preclinical (animal) testing of therapeutic candidates and to establish criteria for moving promising candidates into a drug development program.

Currently scheduled for September 25th through 27th, 2011, this workshop builds upon funding opportunities at NIH, IRSF, and RSRT to support translational research. The opportunities include two recently released NIH funding announcements to develop outcome measures for clinical and preclinical trials in disorders associated with intellectual and developmental disabilities including Rett syndrome. A white paper of the workshop outcomes and recommendations will be published and posted on relevant Web sites to be used as a guide for promoting future translational research in Rett syndrome. For more information, click here.

IRSF’s 12th Annual Rett Syndrome Symposium

The International Rett Syndrome Foundation (IRSF) has announced that they will host the 12th Annual Rett Syndrome Symposium from Sunday, June 26th through Tuesday, June 28th at the Lansdowne Resort and Spa, Leesburg, Virginia. This year the symposium will be chaired by Yi Eve Sun, Ph.D. (University of California – Los Angeles) and James H. Eubanks, Ph.D. (University Health Network, Toronto Western Research Institute). For more information visit http://www.rettsyndrome.org/index.php?option=com_content&task=view&id=536&Itemid=944.

Natural History Study

RettSearch would like to announce that Annals of Neurology has published "Rett syndrome diagnostic criteria: Lessons from the Natural History Study" online. RettSearch members can access the article itself by navigating to the literature library.

Revised Diagnostic Criteria

RettSearch would like to announce that Annals of Neurology has published "Rett Syndrome: Revised Diagnostic Criteria and Nomenclature" online. RettSearch members can access the article itself by navigating to the literature library. The criteria have also been organized into two tables, which can be accessed by clicking on the links below. Please click here, or go to the "Revised Diagnostic Criteria 2010" link on the "Info for Clinicians" page, for more information about this article.

Revised Diagnostic Criteria for Rett Syndrome (RTT)

Specific variant forms of RTT

New RettSearch Library

RettSearch's library has been improved, and it is available to all members. Here you will find PDF's of scholarly articles related to Rett syndrome in a fully searchable database. We are continuing to update this library.

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 ìfor 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 HIGHLIGHTED ARTICLES AND PUBLICATIONS:

Highlighted Articles

Res Dev Disabil. 2011. Marschik PB, Einspieler C, Sigafoos J. Contributing to the early detection of Rett syndrome: The potential role of auditory Gestalt perception.

To assess whether there are qualitatively deviant characteristics in the early vocalizations of children with Rett syndrome, we had 400 native Austrian-German speakers listen to audio recordings of vocalizations from typically developing girls and girls with Rett syndrome. The audio recordings were rated as (a) inconspicuous, (b) conspicuous or (c) not able to decide between (a) and (b). The results showed that participants were accurate in differentiating the vocalizations of typically developing children compared to children with Rett syndrome. However, the accuracy for rating verbal behaviors was dependent on the type of vocalization with greater accuracy for canonical babbling compared to cooing vocalizations. The results suggest a potential role for the use of rating child vocalizations for early detection of Rett syndrome. This is important because clinical criteria related to speech and language development remain important for early identification of Rett syndrome.
J Child Neurol. 2011. Sanmann JN, Schaefer GB, Buehler BA, Sanger WG. Algorithmic Approach for Methyl-CpG Binding Protein 2 (MECP2) Gene Testing in Patients With Neurodevelopmental Disabilities.

Methyl-CpG binding protein 2 gene (MECP2) testing is indicated for patients with numerous clinical presentations, including Rett syndrome (classic and atypical), unexplained neonatal encephalopathy, Angelman syndrome, nonspecific mental retardation, autism (females), and an X-linked family history of developmental delay. Because of this complexity, a gender-specific approach for comprehensive MECP2 gene testing is described. Briefly, sequencing of exons 1 to 4 of MECP2 is recommended for patients with a Rett syndrome phenotype, unexplained neonatal encephalopathy, an Angelman syndrome phenotype (with negative 15q11-13 analysis), nonspecific mental retardation, or autism (females). Additional testing for large-scale MECP2 deletions is recommended for patients with Rett syndrome or Angelman syndrome phenotypes (with negative 15q11-13 analysis) following negative sequencing. Alternatively, testing for large-scale MECP2 duplications is recommended for males presenting with mental retardation, an X-linked family history of developmental delay, and a significant proportion of previously described clinical features (particularly a history of recurrent respiratory infections).

RETTSEARCH LIBRARY:

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)

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