Case report: hikikomori syndrome in Italy and its link with autistic traits and internet gaming disorder.

During the last few decades, a growing field of literature is focusing on hikikomori, a phenomenon described as a form of pathological social withdrawal or social isolation that lasts for more than 6 months leading to significant functional impairment and/or distress. Despite initially considered a culture-bound syndrome, hikikomori syndrome later gained a wider recognition in different countries, ranging from an attempt to take refuge in an idealistic world, when society success' standards are not reached, to a maladaptive coping strategy complicating several psychiatric illnesses such as anxiety disorders, major depression, internet addiction, internet gaming disorder (IGD) and autism spectrum disorder (ASD). In this framework, difficulties in social interaction, in problem solving strategies and socio-emotional reciprocity, may lead to social withdrawal and hikikomori-like behaviors. In this work, we described two cases of patients where the presence of underlying autism spectrum may have represented a sign of vulnerability towards the development of a possible full-blown case of hikikomori with IGD.

The Association between Autism Spectrum Disorder and Precocious Puberty: Considering Effect Modification by Sex and Neuropsychiatric Comorbidities.

Limited knowledge is available about the association between autistic spectrum disorder (ASD) and precocious puberty. Our study examined the association between the two medical conditions and effect modification by sex and neuropsychiatric comorbidities in a nationwide population. To compare the risk of precocious puberty between ASD and non-ASD cases, we conducted a Cox regression analysis using ASD as the exposure and time to precocious puberty as the outcome. We adjusted for sex, attention-deficit/hyperactivity disorder (ADHD), tic disorder, obsessive-compulsive disorder (OCD), anxiety disorder, intellectual disability, and epilepsy. We performed a moderation analysis to examine the potential moderating effects of sex and comorbidities. Patients with ASD were prone to have precocious puberty, with an adjusted hazard ratio (aHR) of 1.80 (95% CI: 1.61-2.01). For effect modification, sex, specifically females, moderated the association between ASD and precocious puberty, with a relative excess risk due to interaction (RERI) of 7.35 (95% CI 4.90-9.80). No significant effect modification was found for any of the comorbidities within the scope of additive effect modification. We found that patients with ASD were prone to precocious puberty, regardless of sex or comorbid neuropsychiatric disorders. Girls with ASD are at a particularly higher risk of developing precocious puberty.

Molecular diagnostic yield of whole-exome sequencing in Saudi autistic children with epilepsy.

Objectives: Autism spectrum disorder (ASD) is a neurological condition that affects social communication and causes repetitive behavior. Autistic children often have comorbidities such as epilepsy. Although the co-occurrence of epilepsy and ASD is frequent, the genetic basis for this association is not fully understood. Many cases of ASD and epilepsy remain unresolved without a molecular diagnosis. The purpose of this study was to determine the molecular diagnostic yield in two Saudi families with a single affected offspring with both ASD and epilepsy using whole-exome sequencing (WES). Methods: Pediatric patients were diagnosed by a pediatric psychiatrist and neurologist, and diagnosed according to the diagnostic and statistical manual of mental disorders (DSM-V) criteria. WES was used to analyze the coding region of DNA from the two trios. Enrichment analysis was performed on the final list of genes. Results: De novo variations were detected in eleven genes (two in ZBTB17 and FRG, and one each in CAD, CTNNA3, GILGA8J, CCZ1, CASKIN1, growth differentiation factor (GDF7), NBPF10, DUX4L4, and ZNF681). Variations in CTNNA3, GOLGA8J, CASKIN1, CCZ1, and NBPF10 genes were correlated to autism. In addition, similar studies found that CAD, CASKIN1, and GOLGA8J were candidate genes for epilepsy. FRG1 and DUX4 variations were associated with facioscapulohumeral muscular dystrophy. The expression of ZBTB17 and GDF was high in nervous system, and variations in these genes might be correlated to autism and epilepsy. Conclusion: Not all the genes presumed to cause ASD and epilepsy in this study were previously identified, suggesting that more genes were suspected of being involved in ASD and epilepsy co-occurrence.

A comparison of visual attention to pictures in the Autism Diagnostic Observation Schedule in children and adolescents with ADHD and/or autism.

Background: Attention-Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) are neurodevelopmental conditions which frequently co-occur. The Autism Diagnostic Observation Schedule (ADOS) is commonly used to aid with diagnostic assessment of ASD but was not originally designed for use in those with comorbid ADHD. Visual attention to social stimuli has been often studied in ASD using eye-tracking, to obtain quantitative indices of how attention is deployed to different parts of a social image/scene. As the ADOS includes tasks that rely on attending to and processing images of social scenes, these measures of visual attention could provide useful additional objective measurement alongside ADOS scores to enhance the characterisation of autistic symptoms in those with ADHD. Methods: Children with ASD, comorbid ASD and ADHD, ADHD and Neurotypical (NT) controls were recruited (n=84). Visual attention was measured using eye-tracking during free viewing of social scenes selected from the ADOS. The full ADOS was then administered. Stimulant medication was temporarily withdrawn during this assessment. Research diagnoses were based on the Development and Wellbeing Assessment (DAWBA), ADOS, Social Communication Questionnaire (SCQ, a measure of ASD severity) and Conners' Rating Scales (CRS-3, a measure of ADHD severity) following clinical consensus. Results: Using factorial ANOVAs to model ADHD, Autism and their interaction, we found that fixation duration to faces was reduced in those with ASD (ASD and ASD+ADHD) compared to those without ASD (ADHD and NT). Reduced visual attention to faces in the whole sample was associated with Autism symptom severity (SCQ subscale scores) but not ADHD symptom severity (CRS-3 scores). Discussion: Our findings provide preliminary evidence in support of implementing visual attention measurement during assessment of ASD in the context of comorbidity with ADHD. For example, if a child with ADHD was found to reduce attention to faces in ADOS pictures this may suggest additive difficulties on the autism spectrum. Replication across a larger sample would be informative. This work has future potential in the clinic to help with complex cases, including those with co-occurring ADHD and ASD.

Transtorno do Espectro Autista e Transtorno Desafiante de Oposição: Dificuldades no diagnostico / Transtorno del Espectro Autista y Trastorno Negativista Desafiante: Dificultades en el diagnóstico / Autism Spectrum Disorder and Oppositional Defiant Disorder: Difficulties in diagnosis

Introdução: O Transtorno do Espectro Autista e Transtorno Desafiante de Oposição, são desordens comumente diagnosticadas em indivíduos ainda na infância. Objetivo: Identificar possíveis fatores dificultadores no diagnóstico diferencial dos referidos transtornos. Metodologia: Foi realizada uma revisão integrativa da literatura, a qual selecionou artigos nas bases de dados Biblioteca Virtual de Saúde, periódico Coordenação de Aperfeiçoamento de Pessoal de Nível Superior e Periódicos Eletrônicos de Psicologia entre os meses de setembro e outubro de 2021. Para tanto, foram utilizadas as palavras chaves Transtorno do Espectro Autista, autismo, Transtorno Desafiante de Oposição, Transtorno Opositor Desafiador, diagnóstico, comorbidades, comportamentos disruptivos e dificuldades diagnósticas. Resultados: Oito artigos foram selecionados para extração de dados. O diagnóstico correto desses transtornos pode ser desafiador devido à sobreposição de sinais com outros transtornos e comorbidades, bem como à diversidade presente no espectro autista e à variedade de manifestações dos transtornos disruptivos. Além disso, a maioria dos estudos destacam os prejuízos na área da comunicação, o comprometimento na área social e os graus de severidade, como sendo características semelhantes entre os dois transtornos, podendo serem possíveis fatores que podem dificultar no diagnóstico do Transtorno do Espectro Autista e Transtorno Desafiante de Oposição, de maneira diferencial ou concomitante. Conclusões: O número de pesquisas relacionadas aos transtornos citados acima é inferior ao que se faz necessário para melhor conhecimento sobre o tema. No que diz respeito as pesquisas de materiais científicos, foram encontradas dificuldades para obtenção de estudos que estivessem de acordo com a nossa pesquisa. Com isso, faz-se necessário mais pesquisas que tentem investigar e compreender o porquê da escassez de material que estudem tais diagnósticos de maneira concomitante (AU).

Introduction: Autism Spectrum Disorder and Oppositional Defiant Disorderare disorders commonly diagnosed in individuals in childhood. Objective:Identify possible factors that hinder the differential diagnosis of these disorders. Methodology:An integrative review of the literature was carried out, which selected articles from the Virtual Health Library databases, Coordination for the Improvement of Higher Education Personnel journal and Electronic Psychology Journalsdatabases between the months of September and October 2021. To this end, the keywords Autistic Spectrum Disorder, autism, Disorder Defiant Disorder, Opposition, Oppositional Defiant Disorder, diagnosis, comorbidities, disruptive behaviors and diagnostic difficulties.Results:Eight articles were selected for data extraction. Correctly diagnosing these disorders can be challenging due to overlapping signs with other disorders and comorbidities, as well as the diversity present in the autism spectrum and the variety of manifestations of disruptive disorders. Furthermore, most studies highlight losses in the area of communication, impairment in the social area and degrees of severity, as being similar characteristics between the two disorders, and may be possible factors that can make it difficult to diagnose Autism Spectrum Disorder and Oppositional Defiant Disorder, differentially or concomitantly. Conclusions:The number of studies related to the disorders mentioned above is lower than what is needed for a better understanding of the subject. With regard to research on scientific materials, difficulties were encountered in obtaining studies that were in accordance with our research. With this, more research is needed to try to investigate and understand the reason for the scarcity of material that studies such diagnoses concomitantly (AU).

Introducción: El Trastorno del Espectro Autista y el Trastorno Negativista Desafiante son trastornos comúnmente diagnosticados en individuos en la infancia. Objetivo: Identificar posibles factores que puedan dificultar el diagnóstico diferencial de los trastornos antes mencionados.Metodología:Se realizó una revisión integrativa de la literatura, que seleccionó artículos en las bases de datos Biblioteca Virtual en Salud, revista Coordinación para el Perfeccionamiento del Personal de Educación Superior y Revistas Electrónicas de Psicología entre septiembre y octubre de 2021. Para ello, se utilizaron las palabras clave Trastorno del espectro autista, autismo, Trastorno negativista desafiante, Trastorno negativista desafiante, diagnóstico, comorbilidades, conductas disruptivas y dificultades diagnósticas. Resultados: Se seleccionaron ocho artículos para la extracción de datos. El diagnóstico correcto de estos trastornos puede ser un desafío debido a la superposición de síntomas con otros trastornos y comorbilidades, así como a la diversidad presente en el espectro del autismo y la variedad de manifestaciones de los trastornos disruptivos. Además, la mayoría de los estudios destacan las deficiencias en el área de la comunicación, la deficiencia en el área social y los grados de gravedad, como características similares entre ambos trastornos, que pueden ser posibles factores que dificulten el diagnóstico del Trastorno del Espectro Autista y Trastorno de Oposición Desafiante, ya sea de forma diferencial o concomitante. Conclusiones: El número de estudios relacionados con los trastornos antes mencionados es inferior al necesario para una mejor comprensión del tema. En cuanto a la investigación sobre materiales científicos, se encontraron dificultades para obtener estudios que estuvieran de acuerdo con nuestra investigación. Con esto, se necesita más investigación para tratar de investigar y comprender la razón de la escasez de material que estudie dichos diagnósticos de forma concomitante (AU).

Air pollution and neurological diseases, current state highlights.

This paper delves into the increasingly recognized yet complex relationship between air pollution and Neurological Diseases. Although the detrimental effects of air pollution on respiratory and cardiovascular health are well-documented, its impact on neurological and cognitive disorders is an emerging area of concern. In this mini review, we explore the intricate mechanisms by which various air pollutants, such as particulate matter, nitrogen oxides, and polycyclic aromatic hydrocarbons, contribute to neurological pathologies. The focus lies on the role of oxidative stress and inflammation in exacerbating conditions like Alzheimer's disease and Parkinson's disease. By unraveling these connections, the paper sheds light on the broader implications of environmental factors on neurological health and underscores the urgent need for policy interventions to mitigate air pollution's impact on the nervous system.

Postural Control and Sensory Processing in Preschool Children with Autistic Spectrum Disorder: A Cross-Sectional Study.

The role of sensory processing in maintaining postural control (PC) among preschool-aged children with autism spectrum disorder (ASD) remains underexplored despite its potential implications for their developmental trajectory. This study aimed to assess the utilization of sensory information for PC maintenance while standing in preschool-aged children with ASD and to examine its correlation with PC during functional tasks using a standardized tool. The cross-sectional study recruited 27 children, aged between 3 and 6 years, diagnosed with ASD. Participation indexes for somatosensory, vestibular, visual, and visual preference were computed during a modified Clinical Test of Sensory Integration and Balance (m-CTSIB), based on sagittal plane body sway analyzed via video with Kinovea® software (version 0.9.4). Additionally, scores from the Pediatric Balance Scale (PBS) were analyzed. Statistical analysis of data derived from lateral malleolus and mastoid process sway using the Friedman test revealed significant differences in the utilization of various sensory systems involved in PC during the m-CTSIB (p < 0.001). There was a pronounced reliance on somatosensory information, coupled with increased instability in the absence or with the variability of visual information. The mean PBS score was 50.44 ± 2.74, exhibiting a significant negative correlation with the vestibular index (p < 0.05). Preschool-aged children with ASD demonstrated challenges in maintaining PC while standing under different sensory conditions, indicating a heightened dependence on somatosensory cues, particularly in the absence or with the variability of visual stimuli. While these challenges were not reflected in PBS scores, they were negatively correlated with the vestibular index.

Disparity in the dental care of children and adolescents with autism spectrum disorder in Korea: a national population-based cross-sectional study.

Individuals with autism spectrum disorders (ASD) have difficulty accessing dental care. We aim to verify whether individuals with ASD are properly managed by checking the frequency of dental visits, cost and severity of dental treatment compared with those without ASD. This cross-sectional study used the Korean Health Insurance Database to analyze the frequency, cost and severity of dental treatment in 209,780 people under the age of 19 with or without ASD in 2020. The average frequency of dental visits for individuals without ASD was 2.98 times, which was significantly higher (p < 0.001) than the 2.89 times for those with ASD. However, the average dental cost for individuals with ASD was USD 132.63, which was significantly higher (p < 0.001) than USD 116.57 for those without ASD. Additionally, the average number of times that individuals without ASD received severe dental treatment was 1.23 times, significantly higher than the 1.15 times for those with ASD. Further, per 10,000 people, we found that trauma treatment was recorded for an average of 21.90 individuals with ASD, significantly higher than the 7.75 recorded for those without ASD (p < 0.001). Individuals with ASD encounter significant disparities in accessing dental care, as evidenced by their relatively infrequent dental visits. This discrepancy can be attributed to various barriers including the financial burden compared with those without ASD.

Teoría de la mente en trastornos del neurodesarrollo: más allá del trastorno del espectro autista / Theory of mind in neurodevelopmental disorders: Beyond autistic spectrum disorder

Introducción La teoría de la mente (ToM) es la capacidad humana de percibir, interpretar y atribuir los estados mentales de las otras personas y la alteración de esta función cognitiva es un síntoma nuclear del trastorno del espectro autista (TEA). Hay otros trastornos del neurodesarrollo como el trastorno obsesivo-compulsivo de inicio en la infancia (TOC) y el síndrome de Tourette (ST), que pueden presentarse con disfunciones cognitivas, y en los que la ToM ha sido menos estudiada, especialmente en población juvenil. El objetivo de este estudio fue comparar la ToM avanzada entre grupos de jóvenes con diagnóstico de TOC, ST o TEA y un grupo de controles sanos. Métodos Se entrevistaron clínicamente a varones de entre 11 y 17 años con diagnóstico principal de TOC (n = 19), ST (n = 14), TEA (n = 18), y un grupo control de sujetos sanos (n = 20). Se les administró instrumentos de estimación de cociente intelectual, severidad de los síntomas psiquiátricos y las pruebas para evaluar la ToM: la tarea Historias de la vida cotidiana y el Test de la mirada. Resultados Los jóvenes con ST presentan dificultades similares para resolver tareas de ToM avanzada al nivel de los pacientes con TEA, a diferencia de los pacientes con TOC de inicio en la infancia que presentan resultados similares a los controles sanos. Conclusiones La ToM está alterada en otros trastornos del neurodesarrollo más allá del TEA, como en el ST. (AU)

Introduction Theory of mind (ToM) is the human ability to perceive, interpret, and attribute the mental states of other people, and the alteration of this cognitive function is a core symptom of autistic spectrum disorder (ASD). In such other neurodevelopmental disorders as childhood-onset obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) that can present with cognitive dysfunctions, ToM has been less extensively studied, especially in the young population. The aim of the study was to compare advanced ToM between groups of young people diagnosed with OCD, TS, or ASD and a control group. Methods Clinical interviews were conducted with male patients aged between 11 and 17 years with a main diagnosis of OCD (n = 19), TS (n = 14), or ASD (n = 18), and a control group (n = 20). We administered instruments for estimating intelligence quotient and severity of psychiatric symptoms, and tasks to evaluate ToM (the “Stories from everyday life” task and the “Reading the mind in the eyes” test). Results Young people with TS and with ASD present similar difficulties in solving advanced ToM tasks, whereas patients with childhood-onset OCD present similar results to controls. Conclusions ToM is altered in other neurodevelopmental disorders beyond ASD, such as TS. (AU)

Molecular insights into enriched environments and behavioral improvements in autism: a systematic review and meta-analysis.

Aims: Autism is a multifaceted developmental disorder of the nervous system, that necessitates novel therapeutic approaches beyond traditional medications and psychosomatic therapy, such as appropriate sensory integration training. This systematic mapping review aims to synthesize existing knowledge on enriching environmental interventions as an alternative avenue for improving autism, guiding future research and practice. Method: A comprehensive search using the terms ASD and Enriched Environment was conducted across PubMed, EMBASE, ISI, Cochrane, and OVID databases. Most of the literature included in this review was derived from animal model experiments, with a particular focus on assessing the effect of EE on autism-like behavior, along with related pathways and molecular mechanisms. Following extensive group discussion and screening, a total of 19 studies were included for analysis. Results: Enriched environmental interventions exhibited the potential to induce both behavioral and biochemical changes, ameliorating autism-like behaviors in animal models. These improvements were attributed to the targeting of BDNF-related pathways, enhanced neurogenesis, and the regulation of glial inflammation. Conclusion: This paper underscores the positive impact of enriched environmental interventions on autism through a review of existing literature. The findings contribute to a deeper understanding of the underlying brain mechanisms associated with this intervention.

Bilingüismo y lenguaje en niños con trastorno del espectro autista: una revisión sistemática / Bilingualism and language in children with autistic spectrum disorder: a systematic review

Introducción La comunicación y el lenguaje de las personas con trastorno del espectro autista (TEA) son algunos de los aspectos que más frecuentemente se ven alterados en este trastorno del neurodesarrollo. Cuando un niño que recibe el diagnóstico de TEA vive en un entorno bilingüe, los padres con frecuencia manifiestan su preocupación sobre si sus hijos deberían aprender dos idiomas simultáneamente y acuden a especialistas para ser aconsejados al respecto. A pesar de que no exista evidencia de sus efectos negativos, algunos profesionales se han mostrado en desacuerdo. Este trabajo pretende conocer si el bilingüismo afecta al lenguaje de niños con TEA. Desarrollo Se ha realizado una revisión de la literatura científica publicada en cuatro bases de datos y siguiendo una serie de criterios se han seleccionado 12 artículos publicados en revistas científicas. Participaron 328 niños diagnosticados con TEA (169 bilingües y 159 monolingües) con edades entre los 3 y 12 años, evaluados con diferentes pruebas de lenguaje receptivo y expresivo que abarcan áreas diversas. La evaluación se realizó de modo directo a los niños, aunque también se evaluaron indirectamente a los padres en algunos trabajos. Conclusiones Se ha comprobado en esta revisión que existe acuerdo sobre que el bilingüismo no supone ninguna dificultad adicional para el desarrollo del lenguaje de niños con TEA a partir de los 3 años. (AU)

Introduction Communication and language skills are among the most severely affected domains in individuals with autistic spectrum disorder (ASD). When a child diagnosed with ASD lives in a bilingual environment, the parents often express concerns about whether their child should learn both languages simultaneously, turning to specialists for advice. Despite the lack of evidence of any negative effect, some professionals disagree on this subject. In this systematic review we study whether bilingualism affects language development in children with ASD. Methods We reviewed the literature published in 4 different databases. After applying a series of selection criteria, we selected 12 scientific articles, including a total of 328 children diagnosed with ASD (169 bilingual and 159 monolingual), with ages ranging from 3 to 12 years. These patients were evaluated with different receptive and expressive language assessment instruments covering several areas. The assessments were performed directly on the children, although indirect assessment of parents was also performed in some studies. Conclusions There seems to be consensus regarding the assertion that bilingualism does not entail any additional difficulty for language development in children with ASD from the age of 3. (AU)

Bilingüismo y lenguaje en niños con trastorno del espectro autista: una revisión sistemática / Bilingualism and language in children with autistic spectrum disorder: a systematic review

Introducción La comunicación y el lenguaje de las personas con trastorno del espectro autista (TEA) son algunos de los aspectos que más frecuentemente se ven alterados en este trastorno del neurodesarrollo. Cuando un niño que recibe el diagnóstico de TEA vive en un entorno bilingüe, los padres con frecuencia manifiestan su preocupación sobre si sus hijos deberían aprender dos idiomas simultáneamente y acuden a especialistas para ser aconsejados al respecto. A pesar de que no exista evidencia de sus efectos negativos, algunos profesionales se han mostrado en desacuerdo. Este trabajo pretende conocer si el bilingüismo afecta al lenguaje de niños con TEA. Desarrollo Se ha realizado una revisión de la literatura científica publicada en cuatro bases de datos y siguiendo una serie de criterios se han seleccionado 12 artículos publicados en revistas científicas. Participaron 328 niños diagnosticados con TEA (169 bilingües y 159 monolingües) con edades entre los 3 y 12 años, evaluados con diferentes pruebas de lenguaje receptivo y expresivo que abarcan áreas diversas. La evaluación se realizó de modo directo a los niños, aunque también se evaluaron indirectamente a los padres en algunos trabajos. Conclusiones Se ha comprobado en esta revisión que existe acuerdo sobre que el bilingüismo no supone ninguna dificultad adicional para el desarrollo del lenguaje de niños con TEA a partir de los 3 años. (AU)

Introduction Communication and language skills are among the most severely affected domains in individuals with autistic spectrum disorder (ASD). When a child diagnosed with ASD lives in a bilingual environment, the parents often express concerns about whether their child should learn both languages simultaneously, turning to specialists for advice. Despite the lack of evidence of any negative effect, some professionals disagree on this subject. In this systematic review we study whether bilingualism affects language development in children with ASD. Methods We reviewed the literature published in 4 different databases. After applying a series of selection criteria, we selected 12 scientific articles, including a total of 328 children diagnosed with ASD (169 bilingual and 159 monolingual), with ages ranging from 3 to 12 years. These patients were evaluated with different receptive and expressive language assessment instruments covering several areas. The assessments were performed directly on the children, although indirect assessment of parents was also performed in some studies. Conclusions There seems to be consensus regarding the assertion that bilingualism does not entail any additional difficulty for language development in children with ASD from the age of 3. (AU)

Theory of mind in neurodevelopmental disorders: beyond autistic spectrum disorder.

INTRODUCTION: Theory of mind (ToM) is the human ability to perceive, interpret, and attribute the mental states of other people, and the alteration of this cognitive function is a core symptom of autistic spectrum disorder (ASD). In such other neurodevelopmental disorders as childhood-onset obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) that can present with cognitive dysfunctions, ToM has been less extensively studied, especially in the young population. The aim of the study was to compare advanced ToM between groups of young people diagnosed with OCD, TS, or ASD and a control group. METHODS: Clinical interviews were conducted with male patients aged between 11 and 17 years with a main diagnosis of OCD (n = 19), TS (n = 14), or ASD (n = 18), and a control group (n = 20). We administered instruments for estimating intelligence quotient and severity of psychiatric symptoms, and tasks to evaluate ToM (the "Stories from everyday life" task and the "Reading the mind in the eyes" test). RESULTS: Young people with TS and with ASD present similar difficulties in solving advanced ToM tasks, whereas patients with childhood-onset OCD present similar results to controls. CONCLUSIONS: ToM is altered in other neurodevelopmental disorders beyond ASD, such as TS.

Bilingualism and language in children with autistic spectrum disorder: a systematic review.

INTRODUCTION: Communication and language skills are among the most severely affected domains in individuals with autistic spectrum disorder (ASD). When a child diagnosed with ASD lives in a bilingual environment, the parents often express concerns about whether their child should learn both languages simultaneously, turning to specialists for advice. Despite the lack of evidence of any negative effect, some professionals disagree on this subject. In this systematic review we study whether bilingualism affects language development in children with ASD. METHODS: We reviewed the literature published in 4 different databases. After applying a series of selection criteria, we selected 12 scientific articles, including a total of 328 children diagnosed with ASD (169 bilingual and 159 monolingual), with ages ranging from 3 to 12 years. These patients were evaluated with different receptive and expressive language assessment instruments covering several areas. The assessments were performed directly on the children, although indirect assessment of parents was also performed in some studies. CONCLUSIONS: There seems to be consensus regarding the assertion that bilingualism does not entail any additional difficulty for language development in children with ASD from the age of 3.

Mothers' satisfaction with emergency care when their child has an autism spectrum disorder.

PURPOSE: This study aimed to examine factors identified by mothers as affecting their satisfaction with the care provided to their children in the Emergency Department (ED), among mothers of children with autistic spectrum disorder (ASD) in comparison to mothers of children without ASD. DESIGN AND METHODS: In this correlational quantitative study, 128 Israeli mothers - 59 (46%) mothers of children with ASD and 69 (54%) of children without ASD - completed an online survey based on a Ministry of Health national survey of patient experience. RESULTS: Mothers of children with ASD expressed lower satisfaction with the care provided. The difference was particularly evident concerning waiting times for examination of the child by nurses and physicians in the ED, whether the nurses were attentive and responsive to the mother's questions and concerns, whether the ED staff demonstrated coordination and cooperation with regard to medical care of the child, and whether work in the ED was conducted in an orderly and organized manner. The presence of communication difficulties in children predicted mothers' satisfaction with care. CONCLUSIONS: These findings suggest that certain needs of mothers and/or their children with ASD do not receive an appropriate response in the ED. PRACTICE IMPLICATIONS: It is important to raise the awareness of healthcare providers in EDs regarding the needs of children with ASD and their parents, especially children with communication difficulties. Strategies should be implemented to improve the experience of children with ASD and their parents in the ED.

Sex-biased single-cell genetic landscape in mice with autism spectrum disorder.

Autistic spectrum disorder (ASD) is a male-biased, heterogeneous neurodevelopmental disorder that affects approximately 1%-2% of the population. Prenatal exposure to valproic acid (VPA) is a recognized risk factor for ASD, but the cellular and molecular basis of VPA-induced ASD at the single-cell resolution is unclear. Here, we aim to compare the cellular and molecular differences in the hippocampus between male and female prenatal mice with ASD at the single-cell transcriptomic level. The transcriptomes of more than 45,000 cells are assigned to 12 major cell types, including neurons, glial cells, vascular cells, and immune cells. Cell type-specific genes with altered expression after prenatal VPA exposure are analyzed, and the largest number of differentially expressed genes (DEGs) are found in neurons, choroid plexus epithelial cells, and microglia. In microglia, several pathways related to inflammation are found in both males and females, including the tumor necrosis factor (TNF), nuclear factor kappa B (NF-κB), toll-like receptor (TLR), and mitogen-activated protein kinase (MAPK) signaling pathways, which are important for the induction of autistic-like behavior. Additionally, we note that several X-linked genes, including Bex1, Bex3, and Gria3, were among the male-specific DEGs of neurons. This pioneering study describes the landscape of the transcriptome in the hippocampus of autistic mice. The elucidation of sexual differences could provide innovative strategies for the prevention and treatment of ASD.

Autism as a Disorder of Affective Empathy.

Since the first description by Leo Kanner, individuals with autism spectrum disorder (ASD) have been attributed a reduced empathy. However, it has not yet been clarified how empathy is specifically impaired in autism. Typically, scholars distinguish between the affective and the cognitive dimensions of empathy. The latter largely overlaps with the concept of the theory of mind (ToM), according to which we need internal inferences or simulations for gaining access to the hidden mental states of others. Since a deficit in ToM is a widely accepted explanation for difficulties of individuals with ASD in social interactions, limitations in cognitive empathy are accordingly assumed. Regarding affective empathy, there are contradictory results using various methods, showing an impaired affective empathy. The main aim of the paper is to present ASD primarily as a disorder of shared interpersonal and interaffective experiences and thus of affective empathy by means of a phenomenological analysis considering empirical studies. In this framework, a deficit of the ToM is accepted but criticized as a central explanatory approach for ASD since (1) it assumes a fundamental inaccessibility of other people, which does not correspond to our everyday social situations, and (2) it manifests developmentally long after the first signs of ASD, which means that its deficit cannot explain the basic autistic difficulties in social interactions.

Reproducibility of an instrument for motor assessment of youth with autism / Reprodutibilidade de instrumento para avaliação motora de jovens com autismo

Abstract Introduction Individuals with autistic spectrum disorder (ASD) have motor impairments that precede communi-cation and socialization disorders. Evaluative instruments compatible with the real possibilities and specificities of patients with ASD, and who quantitatively and qualitatively translate the data in which is wished to intervene with therapeutic actions, are important both in the scope of research and in the clinical evaluation of physiotherapists. Objective To test the interobserver and intraobserver reproducibility of the instrument "Gross Motor Assessment of Children and Adolescents with Autism Spectrum Disorder" (GMA-AUT checklist). Methods The sample consisted of 34 individuals with ASD, aged between 6 and 18 years. The interobserver reproducibility was performed in a blinded manner by two physiotherapists experts in the ASD area of treatment. Intraobserver reproducibility was performed by one of the evaluators on two different days, with a gap of seven days and without access to data from the first evaluation. To verify the reproducibility, percentage of agreement and kappa statistics (k) were used, with the weighted kappa and, for the instrument scores, the intraclass correlation coefficient (ICC). Results The GMA-AUT checklist showed excellent intraobserver agreement, with k ≥ 0.75 and ICC > 0.75. Interobserver reproducibility ranged from good to sufficient agreement with k between 0.40 and 0.75 and ICC > 0.75 for the most part. Conclusion The GMA-AUT checklist had excellent intraobserver reproducibility and, therefore, can be reliably used for assessments of individuals aged between 6 and 18 years with ASD.

Resumo Introdução Indivíduos com transtorno do espectro autista (TEA) apresentam comprometimentos motores que precedem os distúrbios de comunicação e socialização. Instrumentos avaliativos compatíveis com as reais possibilidades e especi-ficidades dos pacientes com TEA, e que traduzam quantitativa e qualitativamente os dados nos quais se deseja intervir com ações terapêuticas, são importantes tanto no âmbito da pesquisa quanto na avaliação clínica do fisioterapeuta. Objetivo Testar a reprodutibilidade interobservador e intraobservador do instrumento "Avaliação Motora Grossa de Crianças e Adolescentes com Transtorno do Espectro Autista" (checklist GMA-AUT). Métodos A amostra foi composta por 34 indivíduos com TEA, com idade entre 6 e 18 anos. A repro-dutibilidade interobservador foi realizada de forma cega por dois fisioterapeutas especialistas na área de tratamento do TEA. A reprodutibilidade intraobservador foi realizada por um dos avaliadores em dois dias distintos, com intervalo de sete dias e sem acesso aos dados da primeira avaliação. Para verificar a reprodutibilidade foram utilizadas a porcentagem de concordância e a estatística kappa (k), com kappa ponderado e, para os escores do instrumento, coeficiente de correlação intraclasse (CCI). Resultados O checklist GMA-AUT apresentou excelente concordância intraobservador, com k ≥ 0,75 e ICC > 0,75. A reprodutibilidade interobservador variou de boa a suficiente concordância, com k entre 0,40 e 0,75 e ICC > 0,75 na maior parte. Conclusão O checklist GMA-AUT apresentou excelente reprodutibilidade intraobservador e, portanto, pode ser utilizado de forma confiável para avaliações de indivíduos com idade entre 6 e 18 anos com TEA.

Ensino de Comportamentos Pré-Requisito do Empatizar para Crianças Autistas: uma Revisão de Escopo / Teaching Pre-Requisite Behaviors of Empathizing for Autistic Children: a Scope Review

RESUMO: Este estudo objetivou identificar, sistematizar e avaliar quais estratégias têm sido utilizadas na Análise do Comportamento para o ensino de comportamentos pré-requisito do empatizar a crianças diagnosticadas com autismo. Para isso, realizaram-se as seguintes etapas: definição das palavras-chave e das bases de dados; estabelecimento dos critérios de inclusão e exclusão dos artigos; busca e seleção de artigos; e análise de dados que consistiu na análise da qualidade individual e geral dos artigos e na sistematização e análise de dados dos artigos (e.g., ano de publicação, procedimento empregado etc.). Foram selecionados 11 artigos para análise. Em todos os artigos, houve o ensino de uma ou mais respostas empáticas, mas apenas dois deles utilizaram a terminologia "empatia" na descrição do objetivo. A falta de consenso na definição do termo dificulta que textos sobre empatia sejam encontrados. Quanto à qualidade dos artigos recuperados, ela foi avaliada como alta. Diante da importância do tema, sugere-se que estudos futuros realizem buscas mais abrangentes sobre o ensino do empatizar para crianças com Transtorno do Espectro Autista (TEA).

ABSTRACT: This study aimed to identify, systematize and evaluate which strategies have been used in Behavior Analysis to teach pre-requisite behaviors for empathizing in children with autism. For this, the following steps were performed: definition of keywords and databases; establishment of inclusion and exclusion criteria for the articles; search and selection of articles; and data analysis, which consisted of analyzing the individual and general quality of the articles and systematizing and analyzing the data of the articles (e.g., year of publication, procedure used, etc.). Eleven articles were selected for analysis. All articles taught one or more empathetic responses, but only two of them used the terminology "empathy" in the objective description. The lack of consensus on the definition of the term makes it difficult to find texts on empathy. As for the quality of the retrieved articles, it was evaluated as high. Given the importance of the topic, it is suggested that future studies develop more embracing searches on teaching empathy for children with Autism Spectrum Disorder (ASD).

Perinatal Exposure to Trace Elements: The Dubious Culprit of Autistic Spectrum Disorder in Children.

There is evidence that few trace elements in the environment work as hazardous materials in terms of their exposure in the perinatal period, causing autistic spectrum disorder (ASD) in children, and avoiding these exposures in the environment can reduce the number of new cases. This perspective study provides preliminary evidence to consider a few trace elements as culprits for ASD. More studies with larger cohorts are needed, but meanwhile, as per available evidence, exposure to these hazardous materials must be warranted during pregnancy and early stages of life.