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Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people

The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered.

Patterns of sensory modulation by age and sex in young people on the autism spectrum

Sensory modulation symptoms form a diagnostic criterion for autism spectrum disorder and are associated with significant daily functional limitations. Utilizing caregiver report on Short Sensory Profile-2 (SSP-2) for 919 autistic children (3–14.11 years), we examined the expression of sensory modulation symptoms by age and sex and investigated the existence of specific sensory modulation subtypes.

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.

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...