Wednesday 2 December 2009

ABSTRACT XLI

Results-25 boys with XLI were assessed for autism and ADHD, 40% fulfilled DSM-IV criteria for a diagnosis of ADHD, 80% of which were inattentive subtype.
ADHD diagnoses were present in those with both deletions and presumed point mutations of STS.
Additionally,five boys,from three unrelated families, fulfilled criteria for an autistic spectrum disorder or related language/communication difficulty, (we are one of the three famlies) and all had an unusually large deletion of the STS gene with loss of the neuroligin 4 (NLGN4) gene.
None of the boys with the typical deletion or presumed point mutations of STS demonstrated autistic difficulties.

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