Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.

Comparative analyses have identified genomic regions potentially involved in human evolution but do not directly assess function. Human accelerated regions (HARs) represent conserved genomic loci with elevated divergence in humans. If some HARs regulate human-specific social and behavioral traits, then mutations would likely impact cognitive and social disorders.

Using whole-exome sequencing to identify inherited causes of autism.

Despite significant heritability of autism spectrum disorders (ASDs), their extreme genetic heterogeneity has proven challenging for gene discovery. Studies of primarily simplex families have implicated de novo copy number changes and point mutations, but are not optimally designed to identify inherited risk alleles. We apply whole-exome sequencing (WES) to ASD families enriched for inherited causes due to consanguinity and find familial ASD associated with biallelic mutations in disease genes (AMT, PEX7, SYNE1, VPS13B, PAH, and POMGNT1).

Olanzapine in the treatment of behavioral problems associated with autism: an open-label trial in Kuwait.

Objectives: To study the efficacy and safety of olanzapine for the treatment of children with autism associated with disruptive behavior problems.

Subjects And Methods: A prospective open-label trial was conducted on 40 male children (mean age 12.2 +/- 2.

Identifying autism loci and genes by tracing recent shared ancestry.

To find inherited causes of autism-spectrum disorders, we studied families in which parents share ancestors, enhancing the role of inherited factors. We mapped several loci, some containing large, inherited, homozygous deletions that are likely mutations. The largest deletions implicated genes, including PCDH10 (protocadherin 10) and DIA1 (deleted in autism1, or c3orf58), whose level of expression changes in response to neuronal activity, a marker of genes involved in synaptic changes that underlie learning.

Toxic trace elements in the hair of children with autism.

Excess or deficiency of natural trace elements has been implicated in the etiology of autism. This study explores whether concentration levels of toxic metals in the hair of children with autism significantly differ from those of age- and sex-matched healthy controls. In-hair concentration levels of antimony, uranium, arsenic, beryllium, mercury, cadmium, lead and aluminum from 40 boys with autism and 40 healthy boys were determined by Perkin-Elmer mass spectrometry.