Spatial Frequency Thresholds for Detecting Latent Facial Signals of Threat.

This study examined whether latent facial signals of threat can be detected at more extreme ranges of spatial frequencies (SFs), and thus with fewer frequencies from an optimal middle band for face identification, compared with latent nonthreatening facial signals. Using an adaptive staircase procedure and a two-interval forced-choice same-different task, SF thresholds from the lower and higher ends of the SF spectrum were obtained for nonexpressive threatening and nonthreatening faces. Threatening faces were discriminated from neutral faces more quickly and accurately, and engendered more extreme SF thresholds, compared with nonthreatening faces.

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.

Studies of genomic copy number variants (CNVs) have identified genes associated with autism spectrum disorder (ASD) and intellectual disability (ID) such as NRXN1, SHANK2, SHANK3 and PTCHD1. Deletions have been reported in PTCHD1 however there has been little information available regarding the clinical presentation of these individuals. Herein we present 23 individuals with PTCHD1 deletions or truncating mutations with detailed phenotypic descriptions.

Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes.

Genome-wide single nucleotide polymorphism (SNP) data from 936 bipolar disorder (BD) individuals and 940 psychiatrically healthy comparison individuals of North European descent were analyzed for copy number variation (CNV). Using multiple CNV calling algorithms, and validating using in vitro molecular analyses, we identified CNVs implicating several candidate genes that encode synaptic proteins, such as DLG1, DLG2, DPP6, NRXN1, NRXN2, NRXN3, SHANK2, and EPHA5, as well as the neuronal splicing regulator RBFOX1 (A2BP1), and neuronal cell adhesion molecule CHL1. We have also identified recurrent CNVs on 15q13.