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We present the Spanish validation of the "Movie for the Assessment of Social Cognition" instrument (MASC-SP). We recruited 22 adolescents and young adults with Asperger syndrome and 26 participants with typical development. The MASC-SP and three other social cognition instruments (Ekman Pictures of Facial Affect test, Reading the Mind in the Eyes Test, and Happé's Strange Stories) were administered to both groups. Individuals with Asperger syndrome had significantly lower scores in all measures of social cognition. The MASC-SP showed strong correlations with all three measures and relative independence of general cognitive functions. Internal consistency was optimal (0.86) and the test-retest was good. The MASC-SP is an ecologically valid and useful tool for assessing social cognition in the Spanish population.

We present the Spanish validation of the 'Movie for the Assessment of Social Cognition' instrument (MASC-SP). We recruited 22 adolescents and young adults with Asperger syndrome and 26 participants with typical development. The MASC-SP and three other social cognition instruments (Ekman Pictures of Facial Affect test, Reading the Mind in the Eyes Test, and Happé's Strange Stories) were administered to both groups. Individuals with Asperger syndrome had significantly lower scores in all measures of social cognition. The MASC-SP showed strong correlations with all three measures and relative independence of general cognitive functions. Internal consistency was optimal (0.86) and the test-retest was good. The MASC-SP is an ecologically valid and useful tool for assessing social cognition in the Spanish population. [ABSTRACT FROM AUTHOR]

Gene editing constitutes a novel approach for precisely correcting disease-causing gene mutations. Frameshift mutations in COL7A1 causing recessive dystrophic epidermolysis bullosa are amenable to open reading frame restoration by non-homologous end joining repair-based approaches. Efficient targeted deletion of faulty COL7A1 exons in polyclonal patient keratinocytes would enable the translation of this therapeutic strategy to the clinic. In this study, using a dual single-guide RNA (sgRNA)-guided Cas9 nuclease delivered as a ribonucleoprotein complex through electroporation, we have achieved very efficient targeted deletion of COL7A1 exon 80 in recessive dystrophic epidermolysis bullosa (RDEB) patient keratinocytes carrying a highly prevalent frameshift mutation. This ex vivo non-viral approach rendered a large proportion of corrected cells producing a functional collagen VII variant. The effective targeting of the epidermal stem cell population enabled long-term regeneration of a properly adhesive skin upon grafting onto immunodeficient mice. A safety assessment by next-generation sequencing (NGS) analysis of potential off-target sites did not reveal any unintended nuclease activity. Our strategy could potentially be extended to a large number of COL7A1 mutation-bearing exons within the long collagenous domain of this gene, opening the way to precision medicine for RDEB., (Copyright © 2019 The Author(s). Published by Elsevier Inc. All rights reserved.)