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We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.
This study provides the first clear evidence of a reduction over time in the behavioral severity of individuals diagnosed with Autistic Disorder during a period of stability in diagnostic criteria
We investigated the factors that may affect the age at diagnosis for girls and woman with Rett syndrome.
Investigate whether impairments in the ability to execute flexible goal-directed actions may be an underlying feature in ASD contributing to these symptoms
For this study, we examined how Rett syndrome characteristics can be affected by X-inactivation for 2 of the common types of mutation - p.R168X and p.T158M.
We used multiplex ligation-dependent probe amplification to examine the MECP2 gene sequences in 149 girls and 1 boy.
This commentary highlights inconsistent findings that undermine the extreme male brain theory autism but data may not present an adequate test of the hypothesis
Novel findings in relation to genotype
Prevalence of overweight/obesity in children and youth with autism spectrum disorder, and associations between weight status and range of factors
We reviewed literature and RettNet to explore firsthand perspectives of gastrointestinal issues in Rett Syndrome, then developed recommendations with experts.
We wanted to describe the range and variability in the expression of symptoms in girls and women with Rett syndrome.
This trial will determine the effectiveness of the TOBY App as a therapeutic complement to other early interventions children with ASD receive
We set out to describe the feeding difficulties and nutrition of girls with Rett syndrome and to examine what factors may be influencing their nutrition.
The rate of transition to psychotic disorder in ultra high risk (UHR) patients has declined in recent cohorts. The reasons for this are unclear, but may...
Using information from the Australian Rett Syndrome study, we examined the frequency of a range of sleep issues and variation by agegroup or gene abnormalities.
Delayed or impaired language development is a common developmental concern, yet there is little agreement about the criteria used to identify and classify...
We compared the symptoms and genetic characteristics of girls with Rett syndrome and both with and without initial diagnosis of autism.
Restricted and repetitive behaviours constitute a core symptom domain of autism spectrum disorder
We examine the level of comorbidity found between Autism spectrum disorder and Schizophrenia spectrum disorders at a clinical and trait level
Existing quality of life scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome