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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).

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...

Cerebral dominance for language function in adults with specific language impairment or autism

A link between developmental language disorders and atypical cerebral lateralization has been postulated since the 1920s, but evidence has been indirect and...

Do children with autism 'switch off' to speech sounds? An investigation using event-related potentials

Autism is a disorder characterized by a core impairment in social behaviour. A prominent component of this social deficit is poor orienting to speech.

Autism and diagnostic substitution: Evidence from a study of adults with a history of developmental language disorder

Rates of diagnosis of autism have risen since 1980, raising the question of whether some children who previously had other diagnoses are now being diagnosed...

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...

Feeding experiences and growth status in a Rett syndrome population

Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the...

Evidence against poor semantic encoding in individuals with autism

This article tests the hypothesis that individuals with autism poorly encode verbal information to the semantic level of processing, instead paying greater...

Correlation between clinical severity in patients with Rett syndrome

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.

News you can use – How you can support your child while you wait for a diagnosis

The Kids Research Institute Australia's Professor Andrew Whitehouse and Sarah Pillar share four things families can do to support their child while waiting to receive an ADHD or autism diagnostic assessment.