An imbalance between excitation and inhibition in the cerebral cortex has been suggested as a possible etiology of autism. The DLX genes encode homeodomain-containing transcription factors controlling the generation of GABAergic cortical interneurons. The DLX1 and DLX2 genes lie head-to-head in 2q32, a region associated with autism susceptibility. We investigated 6 Tag SNPs within the DLX1/2 genes in two cohorts of multiplex (MPX) and one of simplex (SPX) families for association with autism. Family-based association tests showed strong association with five of the SNPs. The common alleles of rs743605 and rs4519482 were significantly associated with autism (Po0.012) in the first sample of 138 MPX families, with the latter remaining significant after correction for multiple testing (P cor ¼ 0.0046). Findings in a second sample of 169 MPX families not only confirmed the association at rs4519482 (P ¼ 0.034) but also showed strong allelic association of the common alleles at rs788172, rs788173 and rs813720 (P cor ¼ 0.0003 -0.04). In the combined MPX families, the common alleles were all significantly associated with autism (P cor ¼ 0.0005-0.016). The GGGTG haplotype was over transmitted in the two MPX cohorts and the combined samples [P cor o0.05: P cor ¼ 0.00007 for the combined MPX families, Odds Ratio: 1.75 (95% CI: 1.33 -2.30)]. Further testing in 306 SPX families replicated the association at rs4519482 (P ¼ 0.033) and the over transmission of the haplotype GGGTG (P ¼ 0.012) although P-values were not significant after correction for multiple testing. The findings support the presence of two functional polymorphisms, one in or near each of the DLX genes that increase susceptibility to, or cause, autism in MPX families where there is a greater genetic component for these conditions.

Death and dying in hospital is inadequately documented and often described using unclear and vague language. PC involvement is associated with clearer language to describe this process.

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Background: Over 50% of Canadians die in hospital, with limited information on the quality of their endof-life (EOL) care. It is also unclear whether non-malignant deaths (NMD) are anticipated, and therefore provided with appropriate EOL care, compared to malignant deaths (MD).Methods: We reviewed 300 deaths on an internal medicine unit in a tertiary care hospital from 2011-2012. Data collected included length of stay (LS), palliative care (PC) referral, cause of death, and classification of death by the attending physician (1-Anticipated death due to terminal illness, 2-Expected death, despite preventative measures, 3-Unexpected death, which was not preventable, 4-Preventable death, where steps may not have been taken to prevent it, 5-Unexpected death, resulting from a medical intervention). Charts of 150 of these deaths were reviewed to determine quality and timing of EOL care.

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