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Linking MECP2 and pain sensitivity: the example of Rett syndrome

This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.

Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database

Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically.

Unpacking the complex nature of the autism epidemic

This paper discusses changes in diagnostic criteria, decreasing age at diagnosis, improved case ascertainment, diagnostic substitution, and social influences.

Overview of health issues in school-aged children with Down Syndrome

Overview of Health Issues in School-aged Children with Down Syndrome

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).

Impact of scoliosis surgery on activities of daily living in females with Rett syndrome

Scoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis.

InterRett, a model for international data collection in a rare genetic disorder

This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian...

Siblings of children with disabilities: challenges and opportunities

Physical and mental health in mothers of children with Down syndrome.

Investigating genotype-phenotype relationships in Rett syndrome using an international data set

This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...