Exploring the Acquisition of Social Communication Skills in Children with Autism: Preliminary Findings from Applied Behavior Analysis (ABA), Parent Training, and Video Modeling.

Social communication skills, especially eye contact and joint attention, are frequently impaired in autism spectrum disorder (ASD) and predict functional outcomes. Applied behavior analysis is one of the most common evidence-based treatments for ASD, but it is not accessible to most families in low- and middle-income countries (LMICs) as it is an expensive and intensive treatment and needs to be delivered by highly specialized professionals. Parental training has emerged as an effective alternative. This is an exploratory study to assess a parental intervention group via video modeling to acquire eye contact and joint attention. Four graded measures of eye contact and joint attention (full physical prompt, partial physical prompt, gestural prompt, and independent) were assessed in 34 children with ASD and intellectual disability (ID). There was a progressive reduction in the level of prompting required over time to acquire eye contact and joint attention, as well as a positive correlation between the time of exposure to the intervention and the acquisition of abilities. This kind of parent training using video modeling to teach eye contact and joint attention skills to children with ASD and ID is a low-cost intervention that can be applied in low-resource settings.

Brief report: Evaluation of an adapted youth version of Parents Taking Action for parents of pre/adolescents with autism spectrum disorder in Colombia.

LAY ABSTRACT: We evaluated the efficacy of the youth version of the program Parents Taking Action in Bogota, Colombia. This program aims to provide information, resources, and strategies about topics of puberty, sexuality, and adolescence for parents of preadolescents with autism spectrum disorder. We examined whether parents in the treatment groups would improve in levels of knowledge, empowerment, self-efficacy, and use of strategies compared to the control group. We recruited two groups of Colombian parents of pre/adolescent with autism spectrum disorder between the ages of 10 and 17 in the city of Bogota, Colombia, through a community-based organization. One of the groups received the intervention and the other served as a control group. Parents in the control group received the intervention after the 4-month follow-up. The intervention included four 3-h weekly sessions in which the curriculum with nine topic areas was delivered providing parents with a space to practice strategies, learn from others, and set goals. Parents in the intervention group reported significantly greater knowledge, self-efficacy, use of strategies, and empowerment compared to the control/waitlist group. Parents were also highly satisfied with the content, materials, and peer connections that the program offered. The program has potential for high impact as information is scarce and parents do not have resources related to the complicated developmental stages of pre/adolescence. The program shows promise as an efficacious tool for community organizations and health providers to provide extra support to families of youth with autism spectrum disorder.

Utilization of dental services by children with autism spectrum conditions: The role of primary health care.

AIM: Children with autism spectrum conditions (ASC) face many barriers to access dental health services, despite having a greater need for care. The aim of the study was to evaluate the use of dental health services by children with ASC and the individual factors related to the demand for primary care services. METHODS: A cross-sectional study was carried out with 100 caregivers of children with ASC aged 6-12 years in a city in Brazil. After the descriptive analysis, logistic regression analyses were carried out to estimate the odds ratio and 95% confidence intervals. RESULTS: The caregivers reported that 25% of the children had never been to the dentist and 57% had an appointment over the past 12 months. Seeking primary care for dental treatment and frequent toothbrushing were positively associated with both outcomes and participating in oral health preventive activities decreased the chance of never having been to the dentist. Having male caregivers and activity limitations due to autism decreased the chance of having been to the dentist over the past year. CONCLUSION: The findings suggest that reorganizing care of children with ASC can contribute to reducing access barriers to dental health services.

Oral Health and Behavioral Management of Children with Autistic Spectrum Disorder: A 30-year Retrospective Study.

PURPOSE: This article aims to determine the oral health status, the dental treatment, the behavioral management techniques, and the follow-up of pediatric autistic spectrum disorder (ASD) patients treated at the Clinic for Pediatric Patients with Disabilities (CPPD) at a public university in Brazil. METHODS: The medical records of all the patients seen between 1990 and 2020 were evaluated. Data were collected on the autistic patients' medical and dental conditions, treatments, behavior during dental visits, behavioral management techniques used, and the entire follow-up period at the clinic. The Student's t-test and chi-square tests were used to perform the statistical analysis (α = 0.05%). RESULTS: Sixty-six records of ASD children were analyzed from a total of 656 dental records. The majority were male (80.3%). The mean age was 7.39 ± 2.75 years. All the children had a cognitive deficit, and 62.5% used medication. Most of the children arrived with caries lesions (56.1%), and the mean number of decayed, missed and filled teeth in both the deciduous (dmft-d) and permanent dentition (DMFT) was 2.45 ± 3.13 and 0.87 ± 1.51, respectively. The restorative technique was the most commonly used procedure (54.5%), and protective stabilization was the most frequently used behavioral management technique (18.2%). Of the children who sought treatment, 86.4% were discharged, and 15.2% abandoned the procedure. The majority (those discharged) continued to undergo regular follow-up at the clinic (86%), and the incidence of new caries lesions observed was 33.33% Conclusions: Although our ASD patients had a high frequency of caries and dental treatment needs, we observed good adherence to the treatment, with a low dropout rate, and high discharge rate.

Individually tailored dosage regimen of full-spectrum Cannabis extracts for autistic core and comorbid symptoms: a real-life report of multi-symptomatic benefits.

Autism Spectrum Disorders (ASD) may significantly impact the well-being of patients and their families. The therapeutic use of cannabis for ASD has gained interest due to its promising results and low side effects, but a consensus on treatment guidelines is lacking. In this study, we conducted a retrospective analysis of 20 patients with autistic symptoms who were treated with full-spectrum cannabis extracts (FCEs) in a response-based, individually-tailored dosage regimen. The daily dosage and relative proportions of cannabidiol (CBD) and tetrahydrocannabinol (THC) were adjusted based on treatment results following periodic clinical evaluation. Most patients (80%) were treated for a minimum of 6 months. We have used a novel, detailed online patient- or caregiver-reported outcome survey that inquired about core and comorbid symptoms, and quality of life. We also reviewed patients' clinical files, and no individual condition within the autistic spectrum was excluded. This real-life approach enabled us to gain a clearer appraisal of the ample scope of benefits that FCEs can provide for ASD patients and their families. Eighteen patients started with a CBD-rich FCE titrating protocol, and in three of them, the CBD-rich (CBD-dominant) FCE was gradually complemented with low doses of a THC-rich (THC-dominant) FCE based on observed effects. Two other patients have used throughout treatment a blend of two FCEs, one CBD-rich and the other THC-rich. The outcomes were mainly positive for most symptoms, and only one patient from each of the two above-mentioned situations displayed important side effects one who has used only CBD-rich FCE throughout the treatment, and another who has used a blend of CBD-Rich and THC-rich FCEs. Therefore, after FCE treatment, 18 out of 20 patients showed improvement in most core and comorbid symptoms of autism, and in quality of life for patients and their families. For them, side effects were mild and infrequent. Additionally, we show, for the first time, that allotriophagy (Pica) can be treated by FCEs. Other medications were reduced or completely discontinued in most cases. Based on our findings, we propose guidelines for individually tailored dosage regimens that may be adapted to locally available qualified FCEs and guide further clinical trials.

Social deficits in mice prenatally exposed to valproic acid are intergenerationally inherited and rescued by social enrichment.

Intergenerational transmission of the effects of environmental factors on brain function and behavior can occur through epigenetic mechanisms. Valproic acid (VPA) is an anticonvulsant drug that, when administered during pregnancy, causes various birth defects. The mechanisms of action are largely unclear: VPA can reduce neuronal excitability, but it also inhibits the histone deacetylases, affecting gene expression. Here we evaluated whether the effects of valproic acid prenatal exposure on autism spectrum disorder (ASD)-related behavioral phenotypes can be transmitted to the second generation (F2) through the paternal or the maternal lineage. Indeed, we found that F2 males of the VPA pedigree show reduced sociability, which can be rescued by exposing the animals to social enrichment. Moreover, as is the case for F1 males, F2 VPA males show increased c-Fos expression in the piriform cortex. However, F3 males show normal sociability, indicating that VPA's effects on this behavior are not transgenerationally inherited. Female behavior is not affected by VPA exposure, and we found no evidence of maternal transmission of the consequences of this pharmacological treatment. Finally, all animals exposed to VPA and their descendants show reduced body weight, highlighting an intriguing effect of this compound on metabolism. We propose the VPA model of ASD as a valuable mouse model to study the role of epigenetic inheritance and its underlying mechanisms affecting behavior and neuronal function.

Social cognition in individuals with schizophrenia, autism spectrum disorder and controls / Cognição social em indivíduos saudáveis, com esquizofrenia e com transtorno do espectro do autismo

ABSTRACT Objective: The aim of this study was to compare the social cognition profiles of male adults with ASD (n = 15), SCHZ (n = 16) and controls (n = 20). Change the second sentence of the abstract. Methods: A cross-sectional assessment of social cognition domains with emotional face perception with eye tracking was performed, and two IQ measures (Verbal IQ and Performance IQ) (Wechsler Adult Intelligence Scale), and the DSM-IV Structured Clinical Interview were applied. Results: There were no significant differences in terms of average performance in social cognition tests or eye tracking tasks between the ASD and SCHZ groups. However, both had lower performances in most cases when compared to the control group. In the social cognition tasks, individuals in the control group performed better than both clinical groups. Conclusion: Although differences were identified between individuals with ASD and SCHZ, it was not possible to determine patterns or to differentiate the clinical groups.

RESUMO Objetivo: O objetivo deste estudo foi comparar os perfis de cognição social de adultos do sexo masculino com TEA (n = 15), SCHZ (n = 16) e controles (n = 20). Métodos: Foram aplicadas uma avaliação transversal dos domínios de cognição social com percepção emocional com rastreamento ocular, duas medidas de QI (QI verbal e QI de desempenho) (Escala de Inteligência Adulta de Wechsler) e a Entrevista Clínica Estruturada DSM-IV. Resultados: Não houve diferenças significativas em termos de desempenho médio em testes de cognição social ou tarefas de rastreamento ocular entre os grupos ASD e SCHZ. No entanto, ambos tiveram desempenhos mais baixos na maioria dos casos, quando comparados ao grupo controle. Nas tarefas de cognição social, os indivíduos do grupo controle tiveram melhor desempenho do que ambos os grupos clínicos. Conclusão: Embora tenham sido identificadas diferenças entre indivíduos com TEA e SCHZ, não foi possível determinar padrões ou diferenciar os grupos clínicos.

Emo-mirror: a proposal to support emotion recognition in children with autism spectrum disorders.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined as persistent difficulty in maturing the socialization process. Health professionals have used traditional methods in the therapies performed on patients with the aim of improving the expression of emotions by patients. However, they have not been sufficient to detect the different emotions expressed in the face of people according to different sensations. Therefore, different artificial intelligence techniques have been applied to improve the results obtained in these therapies. In this article, we propose the construction of an intelligent mirror to recognize five basic emotions: angry, scared, sad, happy and neutral. This mirror uses convolutional neural networks to analyze the images that are captured by a camera and compare it with the one that the patient should perform, thus supporting the therapies performed by health professionals in children with ASD. The proposal presents the platform and computer architecture, as well as the evaluation by specialists under the technology acceptance model.

Interacciones sociales, bullying y conducta suicida en niños y adolescentes con trastorno del espectro autista / Social Interactions, Bullying, and Suicidal Behavior in Children and Adolescents with Autism Spectrum Disorder

Introducción: La evidencia plantea que el trastorno del espectro autista puede asociarse con un aumento, en el pensamiento, del deseo de querer morir; ante esta situación se hace necesario investigar los factores de riesgo que afectan a menores con esta condición. Objetivo: Explorar en la literatura de qué forma las interacciones sociales y el bullying son factores de riesgo en la conducta suicida en niños y adolescentes con trastorno del espectro autista. Métodos: Se realizó una búsqueda que incluyó las principales bases de datos y de gestores de la información (PubMed, SciELO, WoS, Google académico, Scopus, Dialnet), entre marzo y agosto de 2021. Se utilizaron términos como suicidal behavior; trastorno del espectro autista; intimidación; nteracción social. Análisis y síntesis de la información: Se entregan argumentos de cómo el bullying representa un factor de riesgo para la conducta suicida, también de cómo los intercambios comunicativos se encuentran afectados en los menores con trastornos del espectro autista y esto puede aumentar el riesgo suicida. Se describe la escasa literatura vinculada a la evaluación de la conducta suicida en los menores con estos trastornos y de la necesidad de continuar investigando en esta temática. Conclusión: Los niños y adolescentes con necesidades educativas especiales, entre los que se encuentran los niños con trastornos del espectro autista, están expuestos a un mayor número de factores de riesgo para la aparición de conducta suicida. Estos elementos deben considerarse a la hora de programar y planificar protocolos de prevención del suicidio en el contexto sanitario y educativo(AU)

Introduction: Evidence suggests that autism spectrum disorder may be associated with an increase, in thinking of the wish to die; given this situation, it is necessary to investigate the risk factors that affect children with this condition. Objective: To explore in the literature how social interactions and bullying are risk factors for suicidal behavior in children and adolescents with autism spectrum disorder. Methods: A search including the main databases and information managers (PubMed, SciELO, WoS, Google Scholar, Scopus, Dialnet) was carried out between March and August 2021. Terms such as suicidal behavior; autism spectrum disorder; bullying; social interaction were used. Analysis and synthesis of information: Arguments are given on how bullying represents a risk factor for suicidal behavior, also on how communicative exchanges are affected in children with autism spectrum disorders and this may increase suicidal risk. It is described the scarce literature related to the evaluation of suicidal behavior in children with these disorders and the need for further research on this topic. Conclusion: Children and adolescents with special educational needs, including children with autism spectrum disorders, are exposed to a greater number of risk factors for the development of suicidal behavior. These elements should be considered when programming and planning suicide prevention protocols in the health and educational context(AU)

Percepções de familiares sobre as práticas de intervenção precoce na infância em um centro especializado de reabilitação / Family perceptions about early intervention practices in specialized rehabilitation center

Resumo A intervenção precoce centrada na família tem sido considerada entre os pesquisadores como o atual paradigma para o cuidado à infância. Este artigo tem por objetivo apresentar e discutir percepções de familiares sobre as práticas de intervenção precoce e participação ativa da família, realizadas pela equipe de um Centro Especializado de Reabilitação (CER) no atendimento de crianças com Transtorno do Espectro Autista (TEA). Participaram da pesquisa nove familiares de crianças com TEA, de zero a quatro anos e 11 meses, inseridas no serviço. Foram realizadas entrevistas com os participantes para investigar o conhecimento das famílias e suas expectativas sobre a participação nas intervenções, e após a coleta de dados foi feito a análise temática de conteúdo. A prática da equipe desse serviço não está relacionada exclusivamente a um único modelo de apoio às famílias, com a participação família sendo, em sua maioria, alinhada ao modelo de apoio focado na família. Espera-se que este estudo possa contribuir e fomentar discussões sobre a intervenção precoce, dos modelos de apoio à família, e em especial das crianças com TEA.

Abstract Family-centered early intervention has been considered by researchers as the current paradigm for childcare. This article aims to present and discuss perceptions of family members about early intervention practices and active family participation, carried out by the team of a Specialized Rehabilitation Center (CER) in the care of children with Autistic Spectrum Disorder (ASD). Nine family members of children with ASD, from zero to four years and 11 months, included in the service, participated in the research. Interviews were conducted with the participants to investigate the families' knowledge and their expectations about participating in the interventions, and after data collection, thematic content analysis was performed. The practice of the team at this service is not exclusively related to a single model of support for families, with family participation being, for the most part, aligned with the support model focused on the family. It is hoped that this study can contribute and encourage discussions about early intervention, family support models, and especially children with ASD.

Beneficial effects and neurobiological aspects of environmental enrichment associated to major depressive disorder and autism spectrum disorder.

A suitable enriched environment favors development but can also influence behavior and neuronal circuits throughout development. Studies have shown that environmental enrichment (EE) can be used as an essential tool or combined with conventional treatments to improve psychiatric and neurological symptoms, including major depressive disorder (MDD) and autism spectrum disorder (ASD). Both disorders affect a significant percentage of the wofrld's population and have complex pathophysiology. Moreover, the available treatments for MDD and ASD are still inadequate for many affected individuals. Experimental models demonstrate that EE has significant positive effects on behavioral modulation. In addition, EE has effects on neurobiology, including improvement in synaptic connections and neuroplasticity, modulation of neurotransmissions, a decrease in inflammation and oxidative stress, and other neurobiology effects that can be involved in the pathophysiology of MDD and ASD. Thus, this review aims to describe the leading behavioral and neurobiological effects associated with EE in MDD and ASD.

Autism Spectrum Disorder Diagnoses: A Comparison of Countries with Different Income Levels.

Purpose: This study aimed to assess whether high-income countries have a lower mean age at the time of diagnosis of autism spectrum disorder (ASD) than low- and middle-income countries. Method: We reviewed studies related to ASD diagnoses and the time of first concerns in low-, middle-, and high-income countries, published in PubMed, SciELO, Lilacs, and ScienceDirect. Thirty articles were included: 13 from low- and middle-income countries and 17 from high-income countries. Results: The average delay between initial concerns and diagnosis was 32.33 months, with initial concerns averaging 23.64 months and diagnosis at 55.97 months. No statistical differences were found between countries with low-, middle-, and high-income. Conclusions: This review found a considerable delay in ASD diagnosis despite an early presence of recognized signs and symptoms. It highlights the urgent need for standardized tools for early ASD diagnosis.

Capacitação de cuidadores de crianças com autismo em intervenção via SUS / FORMACIÓN DE CUIDADORES DE NIÑOS CON AUTISMO EN INTERVENCIÓN VÍA SUS / TRAINING OF CAREGIVERS OF AUTISTIC CHILDREN IN INTERVENTION VIA SUS

Autism spectrum disorders are characterized by neurodevelopmental alterations with onset of symptoms in childhood. The literature has indicated that the models of intensive behavioral intervention can produce significant improvements in several areas of the development of people with this diagnosis. The offer of this type of therapy in Brazil is still scarce, especially in institutions financed by the Unified Health System. However, the training of caregivers has been pointed out as an alternative to promote access to this type of therapy to more autistic people. The aim of this study was to analyze the effects of caregiver training on the development of autistic children treated at an institution financed by the Unified Health System. Participants were assessed before and after the intervention, using an instrument that measured the children's development. The results indicated improvement in the development of six children out of a group of 17.

Os transtornos do espectro do autismo constituem-se por alterações do neurodesenvolvimento com início dos sintomas na infância. A literatura tem indicado que os modelos de intervenção comportamental in-tensiva podem produzir melhoras significativas em várias áreas do desenvolvimento de pessoas com esse diagnóstico. A oferta desse tipo de terapia no Brasil ainda é escassa, especialmente em instituições finan-ciadas pelo Sistema Único de Saúde. Contudo, a capacitação de cuidadores tem sido apontada como uma alternativa para promover o acesso a esse tipo de terapia a mais pessoas com autismo. O objetivo deste estudo foi analisar os efeitos da capacitação de cuidadores no desenvolvimento de crianças com autismo atendidas em uma instituição financiada pelo Sistema Único de Saúde. Os participantes foram avaliados antes e após a intervenção, por meio de instrumento que mediu o desenvolvimento das crianças. Os resul-tados indicaram melhora no desenvolvimento de seis crianças de um grupo de 17.

Los trastornos del espectro autista se caracterizan por alteraciones del neurodesarrollo con inicio de sín-tomas en la infancia. La literatura ha indicado que los modelos de intervención conductual intensiva pueden producir mejoras significativas en varias áreas del desarrollo de las personas con este diagnóstico. La oferta de este tipo de terapia en Brasil aún es escasa, especialmente en instituciones financiadas por el Sistema Único de Salud. Por otro lado, la formación de cuidadores se ha señalado como una alternativa para promover el acceso a este tipo de terapia a más personas con autismo. El objetivo de este estudio fue analizar los efectos de la formación de cuidadores en el desarrollo de niños con autismo atendidos en una institución financiada por el Sistema Único de Salud. Los participantes fueron evaluados antes y después de la intervención, utilizando un instrumento que midió el desarrollo de los niños. Los resultados indicaron una mejora en el desarrollo de seis niños en un grupo de 17.

The "Primitive Brain Dysfunction" Theory of Autism: The Superior Colliculus Role.

A better understanding of the pathogenesis of autism will help clarify our conception of the complexity of normal brain development. The crucial deficit may lie in the postnatal changes that vision produces in the brainstem nuclei during early life. The superior colliculus is the primary brainstem visual center. Although difficult to examine in humans with present techniques, it is known to support behaviors essential for every vertebrate to survive, such as the ability to pay attention to relevant stimuli and to produce automatic motor responses based on sensory input. From birth to death, it acts as a brain sentinel that influences basic aspects of our behavior. It is the main brainstem hub that lies between the environment and the rest of the higher neural system, making continuous, implicit decisions about where to direct our attention. The conserved cortex-like organization of the superior colliculus in all vertebrates allows the early appearance of primitive emotionally-related behaviors essential for survival. It contains first-line specialized neurons enabling the detection and tracking of faces and movements from birth. During development, it also sends the appropriate impulses to help shape brain areas necessary for social-communicative abilities. These abilities require the analysis of numerous variables, such as the simultaneous evaluation of incoming information sustained by separate brain networks (visual, auditory and sensory-motor, social, emotional, etc.), and predictive capabilities which compare present events to previous experiences and possible responses. These critical aspects of decision-making allow us to evaluate the impact that our response or behavior may provoke in others. The purpose of this review is to show that several enigmas about the complexity of autism might be explained by disruptions of collicular and brainstem functions. The results of two separate lines of investigation: 1. the cognitive, etiologic, and pathogenic aspects of autism on one hand, and two. the functional anatomy of the colliculus on the other, are considered in order to bridge the gap between basic brain science and clinical studies and to promote future research in this unexplored area.

Atención estomatológica integral a niños con trastorno del espectro autista / Comprehensive dental care for children with autism spectrum disorder

RESUMEN Introducción: los trastornos del espectro autista consisten en un grupo de discapacidades del desarrollo nervioso que afecta la interacción social. El niño autista se considera un paciente especial en Estomatología. Objetivo: evaluar la efectividad de una intervención estomatológica en niños autistas, de la escuela especial "Héroes del Moncada" del municipio Camagüey, de septiembre 2018 a junio 2019. Métodos: se realizó un estudio cuasi experimental, antes-después sin grupo control, de septiembre 2018 a junio 2019. El universo y la muestra coincidieron con 26 pacientes, matrícula total de la escuela especial. Se estudiaron variables: tipos de enfermedades bucodentales, factores de riesgo, clasificación epidemiológica, índice COP-D. Se diseñó un protocolo de actuación escalonada, reforzado por técnicas de modificación de la conducta para la familiarización, el acondicionamiento y las posteriores acciones curativas. Resultados: se observó la prevalencia de enfermedad periodontal (80,8 %) y caries dental (57,7 %), cifras que disminuyeron a 15,4 % y 7,7 % después de la intervención. Existió una frecuencia elevada de anomalías dento-maxilo-faciales (61,5 %), tributarias al segundo nivel de atención. El 96,2 % de los pacientes presentaron una mala higiene bucal y presencia de placa dentobacteriana (PDB), lo cual disminuyó notablemente (26,9 % para ambas variables) una vez tratados. Conclusiones: la intervención estomatológica desarrollada fue efectiva y aplicable, con un aporte educativo, preventivo-curativo y social. Desarrolló en los niños con TEA, hábitos correctos y conocimientos básicos de higiene bucal. Se redujeron las afecciones bucales, se garantizó el seguimiento y evolución a través de nexos afectivos que se establecieron.

ABSTRACT Introduction: autism spectrum disorders consist of a group of neuro-developmental disabilities that affect social interaction. The autistic child is considered a special patient in dentistry. Objective: to evaluate the effectiveness of a dentistry intervention in autistic children, from Heroes del Moncada Special School in Camagüey municipality, September 2018 to June 2019. Methods: a quasi-experimental study was conducted, before-after without control group from September 2018 to June 2019.The target group and the sample matched (26 patients), the total registration of the special school. The variables studied were: types of oral diseases, risk factors, epidemiological classification, and DMFT index. A stepwise action protocol was designed, reinforced by behavior modification techniques for familiarization, conditioning and subsequent healing actions. Results: the prevalence of periodontal disease (80,8 %) and dental caries (57,7 %) was observed, figures that decreased to 15,4 % and 7,7 % respectively after the intervention. There was a high frequency of dento-maxillofacial anomalies (61,5 %), responding to the second level of care. The 96,2 % of patients presented poor oral hygiene and presence of dentobacterial plaque (DBP), which decreased significantly (26,9 % for both variables) after treatment. Conclusions: the dentistry intervention developed was effective and applicable, with an educational, preventive-healing and social contribution. It developed correct habits and basic knowledge of oral hygiene in children with ASD. Oral disorders were reduced and follow-up along with evolution were guaranteed all through the affective bonds developed.

Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.

Prediction of pathogenicity of rare copy number variations (CNVs), a genomic alteration known to contribute to the etiology of autism spectrum disorder (ASD), represents a serious limitation to interpreting genetic tests, particularly for genetic counseling purposes. Chromosomal microarray analysis (CMA) was conducted in a unique collection of 144 Brazilian individuals with ASD of strong European and African ancestries. Rare CNVs were detected in 39 patients: 41 of unknown significance (VUS), four pathogenic and one likely pathogenic CNVs (clinical yield of 4.1%; 5/122). Based on gene content and recurrence in three large cohorts [a Brazilian neurodevelopmental disorder cohort, the autism MSSNG cohort, and the Canadian-based Centre for Applied Genomics microarray database], this work strengthened the pathogenicity of 14 genes (FAT1, CAMK4, BIRC6, DPP6, CSMD1, CTNNA3, CDH8/CDH11, CDH13, OR1C1, CNTN6, CNTNAP4, FGF2 and PTPRN2) within 14 CNVs. Notably, enrichment of cell adhesion proteins to ASD etiology was identified (p < 0.05), highlighting the importance of these gene families in the etiology of ASD.

Acetilación N-terminal, acetiltransferasas y mutaciones en subunidad auxiliar NAA15 de N-terminal acetiltransferasa A, asociadas a discapacidad intelectual y trastorno del espectro autista: una revisión bibliográfica / N-terminal acetylation, acetyltransferases and variants in NAA15 auxiliary subunit of the N-terminal acetyltransferase A associated with intellectual disability and autism spectrum disorder: a literature review

Las N-terminal acetiltransferasas (NaT) son fundamentales en el desarrollo, funcionamiento y vida media celular, acetilando gran parte del proteoma humano. Entre las ocho NaT identificadas, N-terminal acetiltransferasa A (NaTA) acetila a un mayor número de sustratos, teniendo además un rol fundamental en el neurodesarrollo. Previamente, estudios han demostrado que mutaciones en la subunidad catalítica de NaTA, NAA10, se asocian con trastornos del neurodesarrollo. Sin embargo, nuevas líneas investigativas sugieren que mutaciones de la subunidad auxiliar, NAA15, también tendrían un rol importante en el desarrollo de estos trastornos. Esta revisión se realiza con el objetivo de recopilar evidencia sobre variantes de NAA15 relacionadas con Discapacidad Intelectual (DI) y Trastorno de Espectro Autista (TEA). Se consultaron fuentes actualizadas sobre acetilación N-terminal, NaT, DI y TEA y mutaciones reportadas de NAA15 y sus expresiones fenotípicas, publicadas entre 2011 y 2022. Se concluye que, aun cuando existe relación entre mutaciones de NAA15, DI y TEA, todavía es necesario esclarecer los mecanismos fisiopatológicos de estos trastornos, el rol de NaTA y el impacto de variantes de sus subunidades en las vías moleculares y el fenotipo, lo que se dificulta por razones que van desde la complejidad de estas vías hasta el elevado costo de análisis genéticos. Se sugiere continuar la investigación en esta área, para comprender las bases moleculares subyacentes a estos trastornos y el rol de las mutaciones en subunidades de NaTA, con el fin último de estudiar potenciales tratamientos que mejoren la calidad de vida de las personas con estos trastornos y sus familias.

Nt-acetyltransferases (NaT) are essential in cell development, function and half-life, catalyzing most of the human proteome. Among the eight NaTs identified, N-terminal acetyltransferase A (NaTA) acetylates a greater number of substrates, also having a fundamental role in neurodevelopment. Previously, studies have shown that mutations in the catalytic subunit of NaTA, NAA10, are associated with neurodevelopmental disorders. However, new research lines suggest that mutations of the NAA15 helper subunit also plays an important role in the development of these disorders. This review is carried out with the objective of gathering evidence on NAA15 variants related to Intellectual Disability (ID) and Autism Spectrum Disorder (ASD). Updated sources on N-terminal acetylation, N-acetyltransferases, DI and TEA and reported mutations of NAA15 and their phenotypic expressions, published between 2011 and 2022 were consulted. It is concluded that even though there is a relationship between mutations of NAA15, ID and ASD exists, it is still necessary to clarify the pathophysiological mechanisms of these disorders, the role of NaTA and the impact of variants of its subunits in the molecular pathways and in the phenotype, for reasons ranging from the complexity of these pathways to the high cost of genetic testing. It is suggested to continue research in this area, to understand the molecular bases underlying these disorders and the role of mutations in NatA subunits, with the ultimate aim of studying potential treatments that improve the quality of life of people with these disorders and their families.

Wnt/ß-Catenin-Dependent Transcription in Autism Spectrum Disorders.

Autism spectrum disorders (ASD) is a heterogeneous group of neurodevelopmental disorders characterized by synaptic dysfunction and defects in dendritic spine morphology. In the past decade, an extensive list of genes associated with ASD has been identified by genome-wide sequencing initiatives. Several of these genes functionally converge in the regulation of the Wnt/ß-catenin signaling pathway, a conserved cascade essential for stem cell pluripotency and cell fate decisions during development. Here, we review current information regarding the transcriptional program of Wnt/ß-catenin signaling in ASD. First, we discuss that Wnt/ß-catenin gain and loss of function studies recapitulate brain developmental abnormalities associated with ASD. Second, transcriptomic approaches using patient-derived induced pluripotent stem cells (iPSC) cells, featuring mutations in high confidence ASD genes, reveal a significant dysregulation in the expression of Wnt signaling components. Finally, we focus on the activity of chromatin-remodeling proteins and transcription factors considered high confidence ASD genes, including CHD8, ARID1B, ADNP, and TBR1, that regulate Wnt/ß-catenin-dependent transcriptional activity in multiple cell types, including pyramidal neurons, interneurons and oligodendrocytes, cells which are becoming increasingly relevant in the study of ASD. We conclude that the level of Wnt/ß-catenin signaling activation could explain the high phenotypical heterogeneity of ASD and be instrumental in the development of new diagnostics tools and therapies.

Affective Communication for Socially Assistive Robots (SARs) for Children with Autism Spectrum Disorder: A Systematic Review.

Research on affective communication for socially assistive robots has been conducted to enable physical robots to perceive, express, and respond emotionally. However, the use of affective computing in social robots has been limited, especially when social robots are designed for children, and especially those with autism spectrum disorder (ASD). Social robots are based on cognitive-affective models, which allow them to communicate with people following social behaviors and rules. However, interactions between a child and a robot may change or be different compared to those with an adult or when the child has an emotional deficit. In this study, we systematically reviewed studies related to computational models of emotions for children with ASD. We used the Scopus, WoS, Springer, and IEEE-Xplore databases to answer different research questions related to the definition, interaction, and design of computational models supported by theoretical psychology approaches from 1997 to 2021. Our review found 46 articles; not all the studies considered children or those with ASD.