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Rett Syndrome: Revised diagnostic criteria and nomenclature

The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.

Clinical associations and prevalence of Scedosporium spp. in Australian cystic fibrosis patients: identification of novel risk factors

Risk factors for the association of Scedosporium in cases of cystic fibrosis (CF) and its clinical implications are poorly understood

Detection of occult Scedosporium species in respiratory tract specimens in cystic fibrosis (CF) by use of selective media

Respiratory samples from cystic fibrosis outpatients were cultured on Sabouraud's dextrose agar (SABD) containing antibiotics, Mycosel, and Scedosporium-sel...

Hemispheric division of function is the result of independent probabilistic biases

Causal theories propose that functional asymmetry is an obligatory pattern of organisation, while statistical theories maintain this is a reflection...

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...