ABSTRACT
Autism Spectrum Disorders (ASD) comprise a group of heterogeneous and complex neurodevelopmental disorders. Genetic and environmental factors contribute to ASD etiology. DNA methylation is particularly relevant for ASD due to its mediating role in the complex interaction between genotype and environment and has been implicated in ASD pathophysiology. The lack of diversity in DNA methylation studies in ASD individuals is remarkable. Since genetic and environmental factors are likely to vary across populations, the study of underrepresented populations is necessary to understand the molecular alterations involved in ASD and the risk factors underlying these changes. This study explored genome-wide differences in DNA methylation patterns in buccal epithelium cells between Mexican ASD patients (n = 27) and age-matched typically developing (TD: n = 15) children. DNA methylation profiles were evaluated with the Illumina 450k array. We evaluated the interaction between sex and ASD and found a differentially methylated region (DMR) over the 5'UTR region of ZFP57 and one of its targets, RASGRF2. These results match previous findings in brain tissue, which may indicate that ZFP57 could be used as a proxy for DNA methylation in different tissues. This is the first study performed in a Mexican, and subsequently, Latin American, population that evaluates DNA methylation in ASD patients.
ABSTRACT
Individuals with autism spectrum disorder (ASD) exhibit impaired adult facial processing, as shown by the N170 event-related potential. However, few studies explore such processing in mothers of children with ASD, and none has assessed the early processing of infant faces in these women. Moreover, whether processing of infant facial expressions in mothers of children with ASD is related to their response to their child's needs (maternal sensitivity [MS]) remains unknown. This study explored the N170 related to infant faces in a group of mothers of children with ASD (MA) and a reference group of mothers of children without ASD. For both emotional (crying, smiling) and neutral expressions, the MA group exhibited larger amplitudes of N170 in the right hemisphere, while the reference group showed similar interhemispheric amplitudes. This lateralization effect within the MA group was not present for nonfaces and was stronger in the mothers with higher MS. We propose that mothers of ASD children use specialized perceptual resources to process infant faces, and this specialization is mediated by MS. Our findings suggest that having an ASD child modulates mothers' early neurophysiological responsiveness to infant cues. Whether this modulation represents a biological marker or a response given by experience remains to be explored. Autism Research 2019, 12: 744-758. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: When mothers of children with autism spectrum disorder (ASD) see baby faces expressing emotions, they show a right-sided electrical response in the brain. This lateralization was stronger in mothers who were more sensitive to their children's needs. We conclude that having a child with ASD and being more attuned to their behavior generates a specialized pattern of brain activity when processing infant faces. Whether this pattern is biological or given by experience remains to be explored.
Subject(s)
Autism Spectrum Disorder/psychology , Brain/physiology , Evoked Potentials/physiology , Facial Expression , Maternal Behavior/psychology , Mothers/psychology , Adult , Child , Child, Preschool , Cues , Female , Humans , Male , Middle Aged , Photic Stimulation/methodsABSTRACT
Abstract: Introduction: The study of autistic spectrum disorders (ASD) at the genetic level is extremely important to understand their origin. In Mexico, there are few works addressed from this perspective. Objective: We investigated the role of the Brain Derived Neurotrophic Factor (BDNF) gene variant rs6265 G/A for single nucleotide polymorphism analysis in Mexican children with ASD using a case-control association design. Method: We made a pilot study by case-control analysis adjusting by gender, age, and ancestry. Results: Our study found no association between the BDNF rs6265 gene polymorphism and ASD [p = .419, OR = 1.597 (.514, 4.967)] Discussion and conclusion: Worldwide, the results of case-control association studies with the rs6265 of BDNF are controversial and do not always replicate. This may be due to the ethnicity of our population and additional factors not studied in the present work. Our study suggests that the SNP rs6265 is not contributing for ASD susceptibility in Mexican population.
Resumen: Introducción: El estudio de los trastornos del espectro autista a nivel genético es de suma importancia para entender su origen. En México existen pocos trabajos abordados desde esta perspectiva. Objetivo: Investigamos el papel de la variante del gen rs6265 G/A del factor neurotrófico derivado del cerebro (BDNF) para el análisis del polimorfismo de un solo nucleótido en niños mexicanos con TEA por medio de un diseño de asociación de casos y controles. Método: Realizamos un estudio piloto mediante un análisis de casos y controles ajustando por género, edad y ancestría. Resultados: Nuestro estudio no encontró asociación entre el polimorfismo del gen BDNF rs6265 y TEA [p = .419, OR = 1.597 (.514, 4.967)]. Discusión y conclusión: A nivel mundial, los resultados de estudios de asociación caso-control con el rs6265 de BDNF son controvertidos y no siempre se replican. Esto puede deberse a la etnicidad de nuestra población y a otros factores no estudiados en el presente trabajo. El estudio sugiere que el SNP rs6265 no contribuye a la susceptibilidad al TEA en población mexicana.
ABSTRACT
BACKGROUND: Delirium is common among the critically ill. Nonpharmacologic interventions are reportedly effective in reducing incident delirium, but limited data specific to this population exist. OBJECTIVES: To assess the efficacy and describe the implementation strategy of a multicomponent intervention to prevent delirium in an intensive care unit. METHODS: A before-and-after study was conducted in an intensive care unit between May 2014 through August 2015. Adult participants were enrolled consecutively, excluding only those who refused to participate. Tailored interventions took available evidence into consideration. Components included early mobilization, physical therapy, reorientation, cognitive stimulation, drug reviews, environmental stimulation, avoidance of sensory deprivation, pain control, restraint use avoidance, and family participation. Incident delirium was assessed twice daily using the Confusion Assessment Method for the Intensive Care Unit. Multivariate logistic regression was used to control for confounders. RESULTS: The study included 227 patients (54.7% male; mean [SD] age, 63.3 [18.3] years). Our strategy significantly reduced delirium (from 38% to 24%; relative risk, 0.62; 95% CI, 0.40-0.94; P = .02), an association that remained significant after adjusting for confounders. Adherence rates were more than 85% in all intervention domains (except daily reorientation) that were overseen by health care providers. CONCLUSIONS: The strategy was successful in reducing delirium. Self-removals of invasive implements decreased, an observation that has not been previously described. No difference in mortality rate was seen, as has been reported in other studies. Early participation of the whole team, shared leadership, and the provision of concrete tasks were key to the success of this multicomponent intervention.
Subject(s)
Critical Care Nursing/standards , Critical Illness/nursing , Delirium/nursing , Delirium/prevention & control , Practice Guidelines as Topic , Adult , Aged , Aged, 80 and over , Female , Humans , Intensive Care Units , Male , Middle AgedABSTRACT
We describe the first case of Leishmania/HIV co-infection reported in Bolivia. Initially hospitalized with a diagnosis of pneumonia and bronchitis, the patient had numerous cutaneous and mucosal lesions caused by Leishmania (Viannia) braziliensis. The patient was also diagnosed as severely immunocompromised because of HIV infection.
