Raija Vanhala

TL;DR: The identification of a novel 421 kb de novo SHANK2 deletion in a patient with autism strengthens the role of synaptic gene dysfunction in ASD but also highlights the presence of putative modifier genes, in keeping with the “multiple hit model” for ASD.

TL;DR: The results demonstrate that, first, auditory orienting deficits in autism cannot be explained by sensory deficits and, second, that orienting deficit in autism might be speech–sound specific.

TL;DR: In this article, auditory event-related potentials (ERP) were studied in 15 children with autism and their controls, and their responses were recorded for pitch, duration, and vowel changes in speech stimuli, and for corresponding changes in the non-speech counterparts of the stimuli, while the children watched silent videos and ignored the stimuli.

TL;DR: The most significant evidence for linkage was found on chromosome 3q25-27, with a maximum two-point LOD score of 4.31 (Z max dom ) for D3S3037, using infantile autism and Asperger syndrome (AS) as an affection status as discussed by the authors.

TL;DR: The allelic diversity of the DISC1, DISC2 and TRAX genes, clustered in 1q42, in Finnish families ascertained for infantile autism and Asperger syndrome and the strongest associations were obtained with broad diagnostic categories for both disorders and with affected males only.