The Broad Autism Phenotype Questionnaire: mothers versus fathers of children with an autism spectrum disorder.

Parents of individuals with autism were examined using the Broad Autism Phenotype Questionnaire (BAPQ; Hurley et al. in J Autism Dev Disord 37:1679-1690, 2007) assessing BAP-related personality and language characteristics. The BAPQ was administered to parents as a self-report and as an informant (spouse)-based measure.

Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression.

Recent work has led to the identification of several susceptibility genes for autism spectrum disorder (ASD) and an increased appreciation of the importance of rare and de novo mutations. Some of the mutations may be very hard to detect using current strategies, especially if they are located in regulatory regions. We present a new approach to identify functional mutations that exploit the fact that many rare mutations disrupt the expression of genes from a single parental chromosome.

All-trans retinoic acid upregulates reduced CD38 transcription in lymphoblastoid cell lines from Autism spectrum disorder.

Deficits in social behavior in mice lacking the CD38 gene have been attributed to impaired secretion of oxytocin. In humans, similar deficits in social behavior are associated with autistic spectrum disorder (ASD), for which genetic variants of CD38 have been pinpointed as provisional risk factors. We sought to explore, in an in vitro model, the feasibility of the theory that restoring the level of CD38 in ASD patients could be of potential clinical benefit.

Low CD38 expression in lymphoblastoid cells and haplotypes are both associated with autism in a family-based study.

Background: Impairments in social processes characterize one of the core deficits in autism spectrum disorders (ASD) and accumulating evidence suggests that oxytocin neurotransmission is implicated in mediating social adaptation in ASD. Using a mouse model, CD38, a transmembrane protein expressed in immune cells but also in brain, was found to be critical for social behavior via regulation of oxytocin secretion. This prompted us to both examine CD38 expression in human lymphoblastoid cell lines (LBC) as well as to test association between SNPs across the CD38 gene and ASD.

Resolution of the diagnosis among parents of children with autism spectrum disorder: associations with child and parent characteristics.

Resolution with the diagnosis of one's child involves coming to terms with and accepting the diagnosis and its implications. Parental resolution with the diagnosis was examined among 61 mothers and 60 fathers of 61 children with autism spectrum disorders aged 2-17 years. We investigated resolution rates and subtypes, and associations between resolution status and child characteristics (CA, gender, MA, adaptive behavior, diagnosis type, time elapsed since diagnosis) and parent characteristics (age, gender, IQ, broad autism phenotype index, special needs' impact on family).