Differential DNA Methylation from Autistic Children Enriches Evidence for Genes Associated with ASD and New Candidate Genes.

The etiology of Autism Spectrum Disorders (ASD) is a result of the interaction between genes and the environment. The study of epigenetic factors that affect gene expression, such as DNA methylation, has become an important area of research in ASD. In recent years, there has been an increasing body of evidence pointing to epigenetic mechanisms that influence brain development, as in the case of ASD, when gene methylation dysregulation is present. Our analysis revealed 853 differentially methylated CpG in ASD patients, affecting 509 genes across the genome. Enrichment analysis showed five related diseases, including autistic disorder and mental disorders, which are particularly significant. In this work, we identified 64 genes that were previously reported in the SFARI gene database, classified according to their impact index. Additionally, we identified new genes that have not been previously reported as candidates with differences in the methylation patterns of Mexican children with ASD.

Epigenome-Wide Analysis Reveals DNA Methylation Alteration in ZFP57 and Its Target RASGFR2 in a Mexican Population Cohort with Autism.

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.

Eficacia de la terapia de juego virtual durante la pandemia de COVID-19 para el acompañamiento de niños con TEA / Eficàcia de la teràpia de joc virtual durant la pandèmia de COVID-19 per a l'acompanyament de nens amb TEA / Efficacy of virtual play therapy during the COVID-19 pandemic for accompanying children with ASD

Las personas con Trastornos del Espectro Autista (TEA) representan una población heterogénea connecesidades diversas que han sido desatendidas durante la crisis provocada por el COVID-19. En este trabajose describe la intervención virtual realizada durante el confinamiento con un niño de cuatro años diagnosticadocon TEA y se hace una crítica de las carencias que el sistema sanitario tiene para proteger a este colectivo en situaciones de emergencia.(AU)

Peoplewith Autism Spectrum Disorders (ASD) represent a heterogeneous population with diverse needs that havebeen neglected during the COVID-19 crisis. This paper describes the virtual intervention carried out during theconfinement of a four-year-old boy diagnosed with ASD and criticises the shortcomings of the health system inprotecting this group in emergencies.(AU)

Les persones amb trastorns de l'espectre autista (TEA) representen una població heterogènia amb neces-sitats diverses que han estat desateses durant la crisi provocada per la COVID-19. En aquest treball es descriula intervenció virtual realitzada durant el confinament amb un nen de quatre anys diagnosticat amb TEA i es fauna crítica de les mancances que el sistema sanitari té per protegir aquest col·lectiu en situacions d'emergència.(AU)

Integrative DNA Methylation and Gene Expression Analysis in the Prefrontal Cortex of Mexicans Who Died by Suicide.

BACKGROUND: Suicide represents a major health concern, especially in developing countries. While many demographic risk factors have been proposed, the underlying molecular pathology of suicide remains poorly understood. A body of evidence suggests that aberrant DNA methylation and expression is involved. In this study, we examined DNA methylation profiles and concordant gene expression changes in the prefrontal cortex of Mexicans who died by suicide. METHODS: In collaboration with the coroner's office in Mexico City, brain samples of males who died by suicide (n = 35) and age-matched sudden death controls (n = 13) were collected. DNA and RNA were extracted from prefrontal cortex tissue and analyzed with the Infinium Methylation480k and the HumanHT-12 v4 Expression Beadchips, respectively. RESULTS: We report evidence of altered DNA methylation profiles at 4430 genomic regions together with 622 genes characterized by differential expression in cases vs controls. Seventy genes were found to have concordant methylation and expression changes. Metacore-enriched analysis identified 10 genes with biological relevance to psychiatric phenotypes and suicide (ADCY9, CRH, NFATC4, ABCC8, HMGA1, KAT2A, EPHA2, TRRAP, CD22, and CBLN1) and highlighted the association that ADCY9 has with various pathways, including signal transduction regulated by the cAMP-responsive element modulator, neurophysiological process regulated by the corticotrophin-releasing hormone, and synaptic plasticity. We therefore went on to validate the observed hypomethylation of ADCY9 in cases vs control through targeted bisulfite sequencing. CONCLUSION: Our study represents the first, to our knowledge, analysis of DNA methylation and gene expression associated with suicide in a Mexican population using postmortem brain, providing novel insights for convergent molecular alterations associated with suicide.

Sexualidad fluida y conflictos de identidad en la adolescencia: una mirada desde el psicoanálisis / Fluid sexuality and identity conflicts in adolescence: a view from psychoanalysis / Sexualitat fluida I conflictes d'identitat a l'adolescència: una mirada des de la psicoanàlisi

En este tra­bajo se describe el caso de una adolescente de 13 años que experimentaba conflictos relativos a la identidad de género y la orientación sexual. Desde la perspectiva psicoanalítica se exploran las variables biográficas que pudieron haber influido en la aparición de este malestar y se profundiza en la relación entre este tipo de conflic­tos durante la adolescencia y el auge de identidades que se desmarcan del binarismo heteronormativo

This paper describes the case of a 13-year-old adolescent girl who experienced conflicts related to gender identity and sexual orientation. From a psychoanalytic perspective, we explore the biographical variables that may have influenced the appea­rance of this discomfort; we examine the relationship between this type of conflict during adolescence and the rise of identities that break away from the heteronormative binarism

En aquest treball, es descriu el cas d'una adolescent de 13 anys que experimentava conflictes relatius a la identitat de gènere I l'orientació sexual. Des de la perspectiva psicoanalítica, s'exploren les variables biogràfiques que podrien ha­ver influït en l'aparició d'aquest malestar I s'aprofundeix en la relació entre aquest tipus de conflicte durant l'adolescència I l'auge d'identitats que es desmarquen del binarisme heteronormatiu

Impacto de la pandemia por COVID-19 en la salud mental de los adolescentes y las adicciones digitales / Impact of the COVID-19 pandemic on adolescent mental health and digital addictions / Impacte de la pandèmia per COVID-19 en la salut mental dels adolescents i les addiccions digitals

La pandemia de COVID-19 ha provocado un cambio dramático en las rutinas de los adolescentes, un colectivo especialmente vulnerable a estresores como el aislamiento social y el sedentarismo. En este trabajo se describe el caso de un adolescente de 13 años que durante el confinamiento desarrolló dependencia al uso del móvil. Se hace una revisión de las implicaciones que la contingencia sanitaria podría tener en la salud mental de los ado­lescentes

The COVID-19 pan­demic has caused a dramatic change in the routines of adolescents, a particularly vulnerable group to stres­sors such as social isolation and sedentariness. This paper describes the case of a 13-year-old adolescent who developed dependence on mobile phone use during the confinement. We review the implications that health contingency could have on adolescents' mental health

La pandèmia de la COVID-19 ha provocat un canvi dramàtic en les rutines dels adolescents, un col·lectiu especialment vulnerable a estressors com l'aïllament social I el sedentarisme. En aquest treball, es descriu el cas d'un adolescent de 13 anys que durant el confinament va desenvolupar dependència a l'ús del mòbil. Es fa una revisió de les implicacions que la contingència sanitària podria tenir en la salut mental dels adolescents

Terapia de juego breve como tratamiento de la ansiedad generalizada infantil / Brief play therapy as an alternative treatment for generalized childhood anxiety disorder / Teràpia de joc breu com a tractament de l’ansietat generalitzada infantil

El trastorno de ansiedad generalizada (TAG) se considera una manifestación crónica de ansiedad predominantemente cognitiva y afecta aproximadamente al 2,9 % de los infantes. En este trabajo, se describe el tratamiento psicológico de un niño de siete años diagnosticado con TAG. El caso se abordó a través de un programa de psicoterapia de juego breve con enfoque psicodinámico, el cual consistió en un total de ocho sesiones de 60 minutos de duración en las que se emplearon un conjunto de técnicas que tenían como objetivo principal la expresión de los conflictos emocionales del menor a través de diferentes actividades de juego libre. Este caso clínico aporta evidencia de la efectividad clínica y las ventajas que ofrecen los tratamientos psicoterapéuticos de duración breve en población infantil

Generalized Anxiety Disorder (GAD) is considered to be a chronic manifestation of anxiety, mainly cognitive in type, and it affects approximately 2.9 % of children. The present paper describes the psychological treatment of a 7 year-old child who was diagnosed with GAD. The case was treated through a program of brief play therapy with a psychodynamic focus, carried out over a total of 8 sessions, each with a duration of 60 minutes. In these sessions, a series of techniques were employed with the aim of allowing the patient to express emotional conflicts through free play activities. This case study provides evidence of the clinical effectiveness of the method and of the advantages of brief psychotherapeutic treatments in children

El trastorn d'ansietat generalitzada (TAG) es considera una manifestació crònica d'ansietat predominantment cognitiva I afecta aproximadament el 2,9 % dels infants. En aquest treball es descriu el tractament psicològic d'un nen de set anys diagnosticat de TAG. El cas s'abordà mitjançant un programa de psicoteràpia de joc breu amb enfocament psicodinàmic, el qual va consistir en un total de vuit sessions de 60 minuts de durada en les quals s'empraren un conjunt de tècniques que tenien com a objectiu principal l'expressió dels conflictes emocionals del menor mitjançant diferents activitats de joc lliure. Aquest cas clínic aporta evidència de l'efectivitat clínica I els avantatges que ofereixen els tractaments psicoterapéutics de durada breu en la població infantil