Perfil cognitivo y social en niños y niñas con Trastorno del Espectro Autista / Cognitive and social profile in children with autism spectrum disorder

El Trastorno del Espectro Autista (TEA) es una condición que se caracteriza por presentar fallas en la conducta social y comportamientos repetitivos. Su perfil neuropsicológico muestra hallaz-gos heterogéneos que dependen de la severidad del trastorno. El objetivo del presente trabajo es describir el funcionamiento neuropsicológico de una muestra de niños y niñas con TEA que asisten al Instituto para el Desarrollo Integral del Niño en condición de Autismo (DINA). La muestra estuvo conformada por 78 participantes, 15.4% de género femenino y 84.6% de géne-ro masculino, con edades entre los 6 y los 16 años. Los instrumentos utilizados fueron protocolo neuropsicológico adaptado de la ENI, prorrateo de inteligencia del WISC-IV, Test de Sally y Ann, Test de Expresiones faciales adaptadopor Paul Ekman y el Test de la Mirada para niños, El Test de Metidas de Pata, e Historias Extrañas de Happé. Los resultados se discuten a la luz de la li-teratura científica sobre el tema.

Autism Spectrum Disorder (ASD) is a condition that is characterized by failures in social behav-ior and repetitive behaviors. The neuropsychological profile shows heterogeneous findings that depends on the severity of the disorder. The objective of this paper is to describe the neuropsychological functioning of a sample of children with ASD who attend the Institute for the Integral Development of Children with Autism (DINA). The sample consisted of 78 partici-pants, 15.4% female and 84.6% male, aged between6 and 16 years. The instruments used were the neuropsychological protocol adapted from the ENI, intelligence apportionment from the WISC-IV, Sally and Ann Test, Facial Expressions Test adapted by Paul Ekman and Reading the Mind in the Eye for children, Faux Pas Test, and The Happé’s Strange Stories test. The re-sults are discussed considering the scientific literature on the subject. (AU)

Inflammatory gene expression profiling in peripheral blood from patients with Alzheimer's disease reveals key pathways and hub genes with potential diagnostic utility: a preliminary study.

BACKGROUND: Alzheimer's disease (AD) is an age-related neurodegenerative disease caused by central nervous system disorders. Late-onset Alzheimer disease (LOAD) is the most common neurodegenerative disorder worldwide. Differences at the expression level of certain genes, resulting from either genetic variations or environmental interactions, might be one of the mechanisms underlying differential risks for developing AD. Peripheral blood genome transcriptional profiling may provide a powerful and minimally invasive tool for the identification of novel targets beyond Aß and tau for AD research. METHODS: This preliminary study explores molecular pathogenesis of LOAD-related inflammation through next generation sequencing, to assess RNA expression profiles in peripheral blood from five patients with LOAD and 10 healthy controls. RESULTS: The analysis of RNA expression profiles revealed 94 genes up-regulated and 147 down-regulated. Gene function analysis, including Gene Ontology (GO) and KOBAS-Kyoto Encyclopedia of DEGs and Genomes (KEGG) pathways indicated upregulation of interferon family (INF) signaling, while the down-regulated genes were mainly associated with the cell cycle process. KEGG metabolic pathways mapping showed gene expression alterations in the signaling pathways of JAK/STAT, chemokines, MAP kinases and Alzheimer disease. The results of this preliminary study provided not only a comprehensive picture of gene expression, but also the key processes associated with pathology for the regulation of neuroinflammation, to improve the current mechanisms to treat LOAD.