1. Ishihara MK, Tamanaha AC, Perissinoto J. {{Comprehension of ambiguity for children with Specific Language Impairment and Autism Spectrum Disorder}}. {Codas};2016 (Dec 12):0.
Purpose: To verify and compare the performance of children and adolescents with Specific Language Impairment (SLI) and Autism Spectrum Disorder (ASD) using a formal, standardized test that assesses language competence, more specifically comprehension of ambiguity. Methods: The sample comprised 19 individuals aged 6 to 14 years, of both genders, divided into two groups: ASD Group (9) and SLI Group (10). Participants were assessed using the Test of Language Competence – TLC; Ambiguous Sentences subtest (Wiig, Secord, 1989). Analysis included the comparison of the total scores in both groups. Results: We found significant difference between the groups, with better performance of the SLI Group compared with that of the ASD Group. Conclusion: It was possible to analyze and compare the performance of both groups in a metalinguistic activity. We observed better performance of the SLI group compared with that of the ASD Group in the interpretation of ambiguous information.
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2. Ji X, Kember RL, Brown CD, Bucan M. {{Increased burden of deleterious variants in essential genes in autism spectrum disorder}}. {Proc Natl Acad Sci U S A};2016 (Dec 12)
Autism spectrum disorder (ASD) is a heterogeneous, highly heritable neurodevelopmental syndrome characterized by impaired social interaction, communication, and repetitive behavior. It is estimated that hundreds of genes contribute to ASD. We asked if genes with a strong effect on survival and fitness contribute to ASD risk. Human orthologs of genes with an essential role in pre- and postnatal development in the mouse [essential genes (EGs)] are enriched for disease genes and under strong purifying selection relative to human orthologs of mouse genes with a known nonlethal phenotype [nonessential genes (NEGs)]. This intolerance to deleterious mutations, commonly observed haploinsufficiency, and the importance of EGs in development suggest a possible cumulative effect of deleterious variants in EGs on complex neurodevelopmental disorders. With a comprehensive catalog of 3,915 mammalian EGs, we provide compelling evidence for a stronger contribution of EGs to ASD risk compared with NEGs. By examining the exonic de novo and inherited variants from 1,781 ASD quartet families, we show a significantly higher burden of damaging mutations in EGs in ASD probands compared with their non-ASD siblings. The analysis of EGs in the developing brain identified clusters of coexpressed EGs implicated in ASD. Finally, we suggest a high-priority list of 29 EGs with potential ASD risk as targets for future functional and behavioral studies. Overall, we show that large-scale studies of gene function in model organisms provide a powerful approach for prioritization of genes and pathogenic variants identified by sequencing studies of human disease.
