20 research outputs found
Opportunities for Optimizing Pantoprazole Therapy in Patients with Acute Upper Gastrointestinal Bleeding
Temperament, parenting, and depressive symptoms in a population sample of preadolescents
Auditory gist perception: an alternative to attentional selection of auditory streams?
Abstract. The idea that the gist of a visual scene is perceived before attention is focused on the details of a particular object is becoming increasingly popular. In the auditory system, on the other hand, it is typically assumed that the sensory signal is first broken down into streams and then attention is applied to select one of the streams. We consider evidence for an alternative: that, in close analogy with the visual system, the gist of an auditory scene is perceived and only afterwards attention is paid to relevant constituents. We find that much experimental evidence is consistent with such a proposal, and we suggest some possibilities for gist representations. Key words: Attention, gist perception, auditory scene analysis
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
Contains fulltext :
218267.pdf (Publisher’s version ) (Closed access)PURPOSE: Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous neurodevelopmental disorders. We sought to delineate the clinical, molecular, and neuroimaging spectrum of a novel neurodevelopmental disorder caused by variants in the zinc finger protein 292 gene (ZNF292). METHODS: We ascertained a cohort of 28 families with ID due to putatively pathogenic ZNF292 variants that were identified via targeted and exome sequencing. Available data were analyzed to characterize the canonical phenotype and examine genotype-phenotype relationships. RESULTS: Probands presented with ID as well as a spectrum of neurodevelopmental features including ASD, among others. All ZNF292 variants were de novo, except in one family with dominant inheritance. ZNF292 encodes a highly conserved zinc finger protein that acts as a transcription factor and is highly expressed in the developing human brain supporting its critical role in neurodevelopment. CONCLUSION: De novo and dominantly inherited variants in ZNF292 are associated with a range of neurodevelopmental features including ID and ASD. The clinical spectrum is broad, and most individuals present with mild to moderate ID with or without other syndromic features. Our results suggest that variants in ZNF292 are likely a recurrent cause of a neurodevelopmental disorder manifesting as ID with or without ASD