Speech is inextricably multisensory: both auditory and visual components provide critical information for all aspects of speech processing, including speech segmentation, the visual components of which have been the target of a growing number of studies. In particular, a recent study (Mitchel and Weiss, 2014) established that adults can utilize facial cues (i.e., visual prosody) to identify word boundaries in fluent speech. The current study expanded upon these results, using an eye tracker to identify highly attended facial features of the audiovisual display used in Mitchel and Weiss (2014). Subjects spent the most time watching the eyes and mouth. A significant trend in gaze durations was found with the longest gaze duration on the mouth, followed by the eyes and then the nose. In addition, eye-gaze patterns changed across familiarization as subjects learned the word boundaries, showing decreased attention to the mouth in later blocks while attention on other facial features remained consistent. These findings highlight the importance of the visual component of speech processing and suggest that the mouth may play a critical role in visual speech segmentation.

Objective: Restricted and repetitive behaviors (RRBs) are a heterogeneous set of behaviors common across a wide range of neurodevelopmental (NDD) and neuropsychiatric disorders (NPD) that extend well into the general population. We introduce two dimensional measures of RRBs for use in both typical and clinical populations from infancy to adulthood. Method:The Childhood Routines Inventory-Revised (CRI-R) and the Adult Routines Inventory (ARI) were created and administered online to a nationality representative cohort of 3,108 parents with 3,032 children (range 12 months -17 years; 11 months). Twenty-six percent of children and thirty six percent of adults had one or more NDDs/NPDs. Results:Principal axis factoring exploratory analysis revealed a two-factor structure for both properties, and will be useful for developmental, clinical, and family genetic studies, as well as for the identification of prodromal conditions involving RRB.

Recent research has provided evidence of a link between behavioral measures of social cognition (SC) and neural and genetic correlates. Differences in face processing and variations in the oxytocin receptor (OXTR) gene have been associated with SC deficits and autism spectrum disorder (ASD) traits. Much work has examined the qualitative differences between those with ASD and typically developing (TD) individuals, but very little has been done to quantify the natural variation in ASD-like traits in the typical population. The present study examines this variation in TD children using a multidimensional perspective involving behavior assessment, neural electroencephalogram (EEG) testing, and OXTR genotyping. Children completed a series of neurocognitive assessments, provided saliva samples for sequencing, and completed a face processing task while connected to an EEG. No clear pattern emerged for EEG covariates or genotypes for individual OXTR single nucleotide polymorphisms (SNPs). However, SNPs rs2254298 and rs53576 consistently interacted such that the AG/GG allele combination of these SNPs was associated with poorer performance on neurocognitive measures. These results suggest that neither SNP in isolation is risk-conferring, but rather that the combination of rs2254298(A/G) and rs53576(G/G) confers a deleterious effect on SC across several neurocognitive measures.

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Like the original O-LIFE, the O-LIFE-US and the CO-LIFE are valid and reliable tools that reflect the spectrum of psychiatric and schizotypal traits in the general population. Such scales are necessary for conducting family studies that aim to examine a range of psychological and behavioral traits in both children and adults and are well-suited for the Research Domain Criteria (RDoC) initiative of the NIMH.

BackgroundWFS1 was initially described as causative agent of autosomal recessive (AR) Wolfram syndrome, a childhood-onset disorder involving diabetes, optic atrophy, hearing loss and neurodegenerative features. However, the discovery of autosomal dominant (AD) disorders caused by this gene has resulted in clinical counselling and result interpretation challenges.ObjectiveWe seek to report a family that appears to segregate dominant and recessive forms of WFS1-related disease.Methods/resultsA 19-year-old woman presented with progressive childhood sensorineural hearing loss and recent optic atrophy, with biallelic mutations in WFS1: c.2486T>C (likely pathogenic) and c.2470G>A (uncertain significance). Her A1C was normal. Her sister carried the same variants and had a similar phenotype. Their father carried c.2486T>C and was found to have mild–moderate hearing loss but no optic atrophy or neurological symptoms. The mother carried c.2470G>A and had a normal audiogram and ophthalmological exam. Providing anticipatory guidance for this family was difficult given the phenotypic variability of WFS1-related disorders and the uncertainty surrounding whether the inheritance pattern was AR or AD.ConclusionThe clinical correlation of the variants identified in this family suggests an AR Wolfram-like syndrome, without the typical diabetes mellitus or diabetes insipidus nor neurological decline. To our knowledge, this is a novel WFS1-related phenotype.

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