Abnormalities In Social Interaction Research Articles

Autism's Impact on Cochlear Implantation Surgery Outcomes in Deaf Children.

Cochlear implants (CI) provide a hearing sense for severe to profound hearing-impaired patients, both adults and children, and they are a broadly effective and accepted therapeutic method for those patients. Also, Deaf children with comorbidities, including autism spectrum disorders (ASDs), undergo cochlear implantation. ASDs are a group of developing disorders characterized by abnormalities in social interaction and communication with limited repetitive patterns of behavior. This study aimed to assess the effect of Autism on CI surgery outcomes in Deaf Children. We followed 12 autistic patients with cochlear implantation and 12 non-autistic cochlear-implanted patients for two years. The Categories of Auditory Performance (CAP) and Speech Intelligibility Rating (SIR) scores were used to assess 6, 12, and 24 months after cochlear implantation surgery. During the 24-month follow-up, the CAP means scores increased in both groups, and SIR and CAP progresses were considerably greater in non-ASD children (P<0.001). However, in ASD children, the progress of CAP and SIR variables were significant, with 99% and 95% confidence, respectively, at 24 months after surgery. Although the CIs could improve hearing performance in autistic patients, speech development after CIs in autistic children could affected by several factors, including the severity of autism, and this can be effective in providing pre-implant counseling to parents. The application of the alternative communication methods could be taken into account as a potential rehab technique.

Cadmium exposure exacerbates immunological abnormalities in a BTBR T+ Itpr3tf/J autistic mouse model by upregulating inflammatory mediators in CD45R-expressing cells

Autism spectrum disorder (ASD) is a neurodevelopmental illness characterized by behavior, learning, communication, and social interaction abnormalities in various situations. Individuals with impairments usually exhibit restricted and repetitive actions. The actual cause of ASD is yet unknown. It is believed, however, that a mix of genetic and environmental factors may play a role in its development. Certain metals have been linked to the development of neurological diseases, and the prevalence of ASD has shown a positive association with industrialization. Cadmium chloride (Cd) is a neurotoxic chemical linked to cognitive impairment, tremors, and neurodegenerative diseases. The BTBR T+ Itpr3tf/J (BTBR) inbred mice are generally used as a model for ASD and display a range of autistic phenotypes. We looked at how Cd exposure affected the signaling of inflammatory mediators in CD45R-expressing cells in the BTBR mouse model of ASD. In this study, we looked at how Cd affected the expression of numerous markers in the spleen, including IFN-γ, IL-6, NF-κB p65, GM-CSF, iNOS, MCP-1, and Notch1. Furthermore, we investigated the effect of Cd exposure on the expression levels of numerous mRNA molecules in brain tissue, including IFN-γ, IL-6, NF-κB p65, GM-CSF, iNOS, MCP-1, and Notch1. The RT-PCR technique was used for this analysis. Cd exposure increased the number of CD45R+IFN-γ+, CD45R+IL-6+, CD45R+NF-κB p65+, CD45R+GM-CSF+, CD45R+GM-CSF+, CD45R+iNOS+, and CD45R+Notch1+ cells in the spleen of BTBR mice. Cd treatment also enhanced mRNA expression in brain tissue for IFN-γ, IL-6, NF-κB, GM-CSF, iNOS, MCP-1, and Notch1. In general, Cd increases the signaling of inflammatory mediators in BTBR mice. This study is the first to show that Cd exposure causes immune function dysregulation in the BTBR ASD mouse model. As a result, our study supports the role of Cd exposure in the development of ASD.

Metaverse-based social skills training programme for children with autism spectrum disorder to improve social interaction ability: an open-label, single-centre, randomised controlled pilot trial.

Autism spectrum disorder (ASD) is characterised by abnormalities in social interactions and restricted and repetitive behaviors. Children with high-functioning ASD (HFASD), lack social communication skills, do not interact with others, and lack peer relationships. We aimed to develop, and evaluate the feasibility of, a metaverse-based programme to enhance the social skills of children with HFASD. This open-label, single-centre, pilot parallel randomised controlled trial (RCT) was conducted on boys aged 7-12 years with HFASD. Children were recruited from a treatment centre for children with HFASD in Korea or by self-referral through online community webpages for the parents of children with HFASD. Participants were randomly assigned (1:1) by a blinded researcher to receive either four weeks of a metaverse-based social skills training programme or a control group. Randomisation was stratified by age (children aged 7-9 and 10-12 years) using permuted blocks (block size 4). The metaverse-based social skills training programme was delivered via the metaverse platforms (Roblox) and Zoom. Children in the intervention group completed the metaverse-based social skills training programme at home for four weeks. The intervention consisted of four sessions, one session per week, for 60min each. The control group did not receive any interventions. The primary outcome measure was the median change in the Social Responsiveness Scale-2 (SRS-2) scores from pre-to post-intervention. SRS-2 is an assessment tool used to confirm the effectiveness of social interactions. Higher scores indicate lower social functioning. The trial is registered with CRIS Registration Number; KCT0006859. Between February 14, 2022, and March 31, 2022, 20 participants were enrolled. Overall, 15 children (median [Interquartile range (IQR)] age, intervention group: 9.0 [8.0-10.0]; control group: 8.5 [8.0-10.0]) participated in the programme. The intervention group included nine participants (60%), and the control group included six participants (40%). The SRS-2 total scores for the intervention group decreased from baseline 96.0 (IQR: 74.0-112.0) to post-intervention 85.0 (IQR: 84.0-103.0). The group median difference in SRS-2 scores between the intervention and control groups was 11.5 (95% CI: 8.5-14.0), with a further reduction in the intervention group. Similar trends were seen for social cognition (group median difference, 95% CI: 2.0, 1.0-4.0), social communication (group median difference, 95% CI: 2.0, 1.0-4.0), and autistic mannerism (group median difference, 95% CI: 4.0, 1.0-5.0). There were no adverse events related to study participation. The findings of this feasibility study suggest that children with HFASD can potentially be familiarised, through metaverse-based programmes, with real-life social situations to improve sociality and reduce emotional and behavioural problems. Such interventions could be delivered at home and possibly be extended to target groups that have difficulty in interacting with peers offline. The Institute of Information & Communications Technology Planning & Evaluation grant, via the Ministry of Science and ICT of the South Korean Government.

Effects of chronic social defeat on social interaction and partner preference in mandarin voles

Abstract Different types of stress produce different effects on social relationships between partners. Chronic social defeat has been found to alter the emotional and social behaviours, whether it affects partner preference remains unclear. Using monogamous mandarin voles (Microtus mandarinus), the present study found that 14 days of social defeat to male vole could increase social avoidance in sociality test, and reduced attacking, intimate, sniffing and exploratory behaviours, but increased avoidance defensive, immobile behaviours in social interaction test. In addition, this treatment significantly reduced side-by-side contact with partner throughout cohabitation period, and reduced the attacking behaviour to strangers after 11 days’ cohabitation. Furthermore, in mandarin vole with chronic social defeat, partner preference was abolished on 5 and 7 days’ cohabitation indicating that pair bonding stability was impaired by chronic social defeat. Moreover, although mandarin voles spent longer time rescuing partner than stranger in both groups, chronic social defeat did not affect rescuing significantly. Impairment of pair bonding may be due to abnormalities in social interaction induced by chronic social defeat. This finding provides some insights into mechanisms underlying effects of prolong social stress on social relationships between partners.

Review of Progress in Diagnostic Studies of Autism Spectrum Disorder Using Neuroimaging.

This review article summarizes the recent advances in the diagnostic studies of autism spectrum disorders (ASDs) considering some of the most influential research articles from the last two decades. ASD is a heterogeneous neurodevelopmental disorder characterized by abnormalities in social interaction, communication, and behavioral patterns as well as some unique strengths and differences. The current diagnosis systems are based on autism diagnostic observation schedule (ADOS) or autism diagnostic interview-revised (ADI-R), but biological markers are also important for an effective diagnosis of ASDs. The amalgamation of neuroimaging techniques, such as structural and functional magnetic resonance imaging (sMRI and fMRI), with machine-learning and deep-learning approaches helps throw new light on typical biological markers of ASDs at the early stage of life. To assess the performance of a deep neural network, we develop a light-weighted CNN model for ASD classification. The overall accuracy, precision, and F1-score of the proposed model are 99.92%, 99.93% and 99.92%, respectively. All the neuroimaging studies we have reviewed can be divided into 3 categories, viz. thickness, volume and functional connectivity-based studies. We conclude with a discussion of the major findings of considered studies and promising directions for future research in this field.

Diagnosis of Autism Disorder Based on Deep Network Trained by Augmented EEG Signals.

Autism spectrum disorder is a neurodevelopmental disorder typically characterized by abnormalities in social interaction and stereotyped and repetitive behaviors. Diagnosis of autism is mainly based on behavioral tests and interviews. In recent years, studies involving the diagnosis of autism based on analysis of EEG signals have increased. In this paper, recorded signals from people suffering from autism and healthy individuals are divided to without overlap windows considered as images and these images are classified using a two-dimensional Deep Convolution Neural Network (2D-DCNN). Deep learning models require a lot of data to extract the appropriate features and automate data classification. But, in most neurological studies, preparing a large number of measurements is difficult (a few 1000s as compared to million natural images), due to the cost, time, and difficulty of recording these signals. Therefore, to make the appropriate number of data, in our proposed method, some of the data augmentation methods are used. These data augmentation methods are mainly introduced for image databases and should be generalized for EEG-as-an-image database. In this paper, one of the nonlinear image mixing methods is used that mixes the rows of two images. According to the fact that any row in our image is one channel of EEG signal, this method is named channel combination. The result is that in the best case, i.e., augmentation according to channel combination, the average accuracy of 88.29% is achieved in the classification of short signals of healthy people and ASD ones and 100% for ASD and epilepsy ones, using 2D-DCNN. After the decision on joined windows related to each subject, we could achieve 100% accuracy in detecting ASD subjects, according to long EEG signals.

Transcriptomic analysis in the striatum reveals the involvement of Nurr1 in the social behavior of prenatally valproic acid-exposed male mice

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that exhibits neurobehavioral deficits characterized by abnormalities in social interactions, deficits in communication as well as restricted interests, and repetitive behaviors. The basal ganglia is one of the brain regions implicated as dysfunctional in ASD. In particular, the defects in corticostriatal function have been reported to be involved in the pathogenesis of ASD. Surface deformation of the striatum in the brains of patients with ASD and their correlation with behavioral symptoms was reported in magnetic resonance imaging (MRI) studies. We demonstrated that prenatal valproic acid (VPA) exposure induced synaptic and molecular changes and decreased neuronal activity in the striatum. Using RNA sequencing (RNA-Seq), we analyzed transcriptome alterations in striatal tissues from 10-week-old prenatally VPA-exposed BALB/c male mice. Among the upregulated genes, Nurr1 was significantly upregulated in striatal tissues from prenatally VPA-exposed mice. Viral knockdown of Nurr1 by shRNA significantly rescued the reduction in dendritic spine density and the number of mature dendritic spines in the striatum and markedly improved social deficits in prenatally VPA-exposed mice. In addition, treatment with amodiaquine, which is a known ligand for Nurr1, mimicked the social deficits and synaptic abnormalities in saline-exposed mice as observed in prenatally VPA-exposed mice. Furthermore, PatDp+/− mice, a commonly used ASD genetic mouse model, also showed increased levels of Nurr1 in the striatum. Taken together, these results suggest that the increase in Nurr1 expression in the striatum is a mechanism related to the changes in synaptic deficits and behavioral phenotypes of the VPA-induced ASD mouse model.

Diagnosis of Autism Spectrum Disorder

NIMH [1] had described autism to be the foremost notable childhood developmental disorder. Ozonoff et al. [2] had stated a Greek word called autos as being self. According to Brasic [3], Landa [4], and National Human Genome Research Institute (NHGRI) [5], ASD had been recognised in early childhood and characterized by qualitative abnormalities in social interactions, such as in communication, and repetitive behaviours, interests, and activities (RRBs). In 1943, Ozonoff et al. [2] had referred Leo Kanner at the John Hopkins University in Baltimore had reported autism as a specific set of behaviors contributing to different spectrums. Ozonoff et al. [2] had also found that he had diagnosed 11 children who had less interest in people, held on to their daily routines, and had shown unusual movements. They faced difficulties in learning and interacting with other people.

A case study on the ayurvedic management of Autism spectrum disorder (ASD - Vatapaitika unmada) using medhogulika and bhunana taila

Autism spectrum disorder (ASD) is a complex developmental condition characterized by qualitative abnormalities in social interactions, reduced communication skills, and restricted repetitive behaviors and activities. There is no direct reference to ASD in Samhitas and it can be considered as an Anukta vyadhi. Unmada, a disease that afflicts manovaha srothas, is characterized by the perversion of intellect, mind, and memory.ASD can be correlated to Vatika unmada. The treatment of unmada involves various Ayurvedic formulations. Medha gulika is a polyherbal formulation indicated in anxiety and mental depression, dementia and it improves memory, concentration, and brain functioning (medhya). Bhunaga Talia is an anubhootayoga indicated in treatment of apasmara, bhootonmada, vaksanga etc.Nasya and shiroshirodhara are effective in treating manovaha srothovikaras. Bhunaga taila and Medha gulika can be combined to develop an effective treatment protocol for ASD. The main aim of this study is to develop a protocol of treatment for a patient suffering from ASD, which helps manage the symptoms and make behavioral improvement. A 5-year-old female child who was brought to the OPD with the diagnosis of ASD was treated with both these medicines and the changes before and after the treatment was noted based on the Trivandrum Autism Behavioral Checklist (TABC). Minimal improvement was noted in the behavior of the child following treatment of 90 days.

Anandamide Hydrolysis Inhibition Reverses the Long-Term Behavioral and Gene Expression Alterations Induced by MK-801 in Male Rats: Differential CB1 and CB2 Receptor-Mediated Effects.

NMDA receptor blockade in rodents is commonly used to induce schizophrenia-like behavioral abnormalities, including cognitive deficits and social dysfunction. Aberrant glutamate and GABA transmission, particularly in adolescence, is implicated in these behavioral abnormalities. The endocannabinoid system modulates glutamate and GABA transmission, but the impact of endocannabinoid modulation on cognitive and social dysfunction is unclear. Here, we asked whether late-adolescence administration of the anandamide hydrolysis inhibitor URB597 can reverse behavioral deficits induced by early-adolescence administration of the NMDA receptor blocker MK-801. In parallel, we assessed the impact of MK-801 and URB597 on mRNA expression of glutamate and GABA markers. We found that URB597 prevented MK-801-induced novel object recognition deficits and social interaction abnormalities in adult rats, and reversed glutamate and GABA aberrations in the prelimbic PFC. URB597-mediated reversal of MK-801-induced social interaction deficits was mediated by the CB1 receptor, whereas the reversal of cognitive deficits was mediated by the CB2 receptor. This was paralleled by the reversal of CB1 and CB2 receptor expression abnormalities in the basolateral amygdala and prelimbic PFC, respectively. Together, our findings show that interfering with NMDA receptor function in early adolescence has a lasting impact on phenotypes resembling the negative symptoms and cognitive deficits of schizophrenia and on glutamate and GABA marker expression in the PFC. Prevention of behavioral and molecular abnormalities by late-adolescence URB597 via CB1 and CB2 receptors suggests that endocannabinoid stimulation may have therapeutic potential in addressing treatment-resistant symptoms.

Analisis Penatalaksanaan Interaksi Sosial pada Anak Autis dengan Menggunakan Metode Social Story di Klinik Shally Autis Center Palembang Tahun 2020

Autism is a condition caused by internal disorders. A development characterized by abnormalities in social interactions, communication and very rigid behavior and repetition of behavior, while social interactions are needed in the daily life of children with autism in order to live like everyone else. The purpose of this study was to determine the relationship between eye contact, understanding, emotions, and speech on the social interactions of children with autism. This research is an analytic survey with a Cross sectional design. The population in this study were all 60 patients diagnosed with autism at the Shally Autis Center palembang. the sample in this study was the total of population, namely 60 children. The results of the study found that there was a relationship between eye contact, understanding, emotions, and speech with the social interaction of children with autism at the Shally Autis Center Palembang clinic in 2020. At the end of the study it is suggested that therapists in increasing social interaction of children with autism should pay attention to aye contact, understanding, emotion, and speech to be promoted for better development.

Bimbingan Dan Layanan Terapi Pada Anak Autis

Autistic disorder is the presence of developmental disorders or abnormalities in social interaction and communication and is characterized by limited activity and interest. The appearance of this disorder largely depends on the stage of development and chronological age of the individual. Children with autism is one of the developmental disorders of pervasive brain function that includes cognitive impairment, language, behavior, communication, and social interaction disorders, so that it has its own world. The main goal in tackling autism is to reduce the symptoms associated with autism and reduce the pressure that occurs in the family. Children with autism can be trained through therapy in accordance with the condition and needs of children, among others through speech therapy, occupational therapy, play therapy, medical therapy / drugs ( drugs ), sensory integration therapy, auditory integration therapy, biomedical treatment / therapy, hydro therapy and music therapy. Education services for autistic children are also very diverse such as transition classes, inclusion education programs, integrated education programs, home school programs, autistic rehabilitation centers. This form of service aims to make the autistic child more independent and develop the potential that exists in him.

Systems Biology Reveals S-Nitrosylation-Dependent Regulation of Mitochondrial Functions in Mice with Shank3 Mutation Associated with Autism Spectrum Disorder.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder manifested in repetitive behavior, abnormalities in social interactions, and communication. The pathogenesis of this disorder is not clear, and no effective treatment is currently available. Protein S-nitrosylation (SNO), the nitric oxide (NO)-mediated posttranslational modification, targets key proteins implicated in synaptic and neuronal functions. Previously, we have shown that NO and SNO are involved in the ASD mouse model based on the Shank3 mutation. The energy supply to the brain mostly relies on oxidative phosphorylation in the mitochondria. Recent studies show that mitochondrial dysfunction and oxidative stress are involved in ASD pathology. In this work, we performed SNO proteomics analysis of cortical tissues of the Shank3 mouse model of ASD with the focus on mitochondrial proteins and processes. The study was based on the SNOTRAP technology followed by systems biology analysis. This work revealed that 63 mitochondrial proteins were S-nitrosylated and that several mitochondria-related processes, including those associated with oxidative phosphorylation, oxidative stress, and apoptosis, were enriched. This study implies that aberrant SNO signaling induced by the Shank3 mutation can target a wide range of mitochondria-related proteins and processes that may contribute to the ASD pathology. It is the first study to investigate the role of NO-dependent mitochondrial functions in ASD.

Free Dyadic Social Interaction Test in Mice.

Psychiatric disorders affect approximately one quarter of people worldwide at some point in their lifetime. This chapter provides a step-by-step guide to conduct behavioral tests in adult mice for investigations of social behavior, without the need for specific equipment. This test should allow the identification of key abnormalities in social interactions that can be followed up by targeted, more complex, behavioral analysis aimed at identification of new biomarkers and potential drug targets.

Heterogeneity of Cell Surface Glutamate and GABA Receptor Expression in Shank and CNTN4 Autism Mouse Models.

Autism spectrum disorder (ASD) refers to a large set of neurodevelopmental disorders, which have in common both repetitive behavior and abnormalities in social interactions and communication. Interestingly, most forms of ASD have a strong genetic contribution. However, the molecular underpinnings of this disorder remain elusive. The SHANK3 gene (and to a lesser degree SHANK2) which encode for the postsynaptic density (PSD) proteins SHANK3/SHANK2 and the CONTACTIN 4 gene which encodes for the neuronal glycoprotein CONTACTIN4 (CNTN4) exhibit mutated variants which are associated with ASD. Like many of the other genes associated with ASD, both SHANKs and CNTN4 affect synapse formation and function and are therefore related to the proper development and signaling capability of excitatory and inhibitory neuronal networks in the adult mammal brain. In this study, we used mutant/knock-out mice of Shank2 (Shank2−/−), Shank3 (Shank3αβ−/−), and Cntn4 (Cntn4−/−) as ASD-models to explore whether these mice share a molecular signature in glutamatergic and GABAergic synaptic transmission in ASD-related brain regions. Using a biotinylation assay and subsequent western blotting we focused our analysis on cell surface expression of several ionotropic glutamate and GABA receptor subunits: GluA1, GluA2, and GluN1 were analyzed for excitatory synaptic transmission, and the α1 subunit of the GABAA receptor was analyzed for inhibitory synaptic transmission. We found that both Shank2−/− and Shank3αβ−/− mice exhibit reduced levels of several cell surface glutamate receptors in the analyzed brain regions—especially in the striatum and thalamus—when compared to wildtype controls. Interestingly, even though Cntn4−/− mice also show reduced levels of some cell surface glutamate receptors in the cortex and hippocampus, increased levels of cell surface glutamate receptors were found in the striatum. Moreover, Cntn4−/− mice do not only show brain region-specific alterations in cell surface glutamate receptors but also a downregulation of cell surface GABA receptors in several of the analyzed brain regions. The results of this study suggest that even though mutations in defined genes can be associated with ASD this does not necessarily result in a common molecular phenotype in surface expression of glutamatergic and GABAergic receptor subunits in defined brain regions.

Age‐specific autistic‐like behaviors in heterozygous Fmr1‐KO female mice

Fragile X syndrome (FXS) is a major developmental disorder and the most frequent monogenic cause of autism. Surprisingly, most existing studies on the Fmr1-KO mouse model for FXS have focused on males, although FX women, who are mostly heterozygous for the Fmr1 mutation, are known to exhibit several behavioral deficits, including autistic-like features. Furthermore, most animal research has been carried out on adults only; so that little is known about the age progression of the behavioral phenotype of Fmr1 mutants, which is a crucial issue to optimize the impact of therapeutic interventions. Here, we performed an extensive analysis of autistic-like social behaviors in heterozygous (HET) Fmr1-KO females and their WT littermates at different ages. No behavioral difference between HET and WT mice was observed at infancy, but some abnormalities in social interaction and communication were first detected at juvenile age. At adulthood some of these alterations disappeared, but avoidance of social novelty appeared, together with other FXS-relevant behavioral deficits, such as hyperactivity and reduced contextual fear response. Our data provide for the first time evidence for the presence of autistic-relevant behavioral abnormalities in Fmr1-HET female mice, demonstrating the utility of this mouse line to model autistic-like behaviors in both sexes. These results also highlight the importance of taking into account age differences when using the Fmr1-KO mouse model, suggesting that the early post-natal phases are the most promising target for preventive interventions and the adult age is the most appropriate to investigate the behavioral impact of potential therapies. Autism Res 2017. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2017, 10: 1067-1078. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

Regional Volume Decreases in the Brain of Pax6 Heterozygous Mutant Rats: MRI Deformation-Based Morphometry.

Pax6 is a transcription factor that pleiotropically regulates various developmental processes in the central nervous system. In a previous study, we revealed that Pax6 heterozygous mutant (rSey2/+) adult rats exhibit abnormalities in social interaction. However, the brain malformations underlying the behavioral abnormality are unknown. To elucidate the brain malformations in rSey2/+ rats, we morphometrically analyzed brains of rSey2/+ and wild type rats using small-animal magnetic resonance imaging (MRI). Sixty 10-week-old rats underwent brain MRI (29 rSey2/+ rats and 31 wild type rats). SPM8 software was used for image preprocessing and statistical image analysis. Normalized maps of the Jacobian determinant, a parameter for the expansion and/or contraction of brain regions, were obtained for each rat. rSey2/+ rats showed significant volume decreases in various brain regions including the neocortex, corpus callosum, olfactory structures, hippocampal formation, diencephalon, and midbrain compared to wild type rats. Among brain regions, the anterior commissure showed significant interaction between genotype and sex, indicating the effect of genotype difference on the anterior commissure volume was more robust in females than in males. The rSey2/+ rats exhibited decreased volume in various gray and white matter regions of the brain, which may contribute to manifestation of abnormal social behaviors.

Autism-Like Behavior and Epigenetic Changes Associated with Autism as Consequences of In Utero Exposure to Environmental Pollutants in a Mouse Model.

We tested the hypothesis that in utero exposure to heavy metals increases autism-like behavioral phenotypes in adult animals and induces epigenetic changes in genes that have roles in the etiology of autism. Mouse dams were treated with cadmium, lead, arsenate, manganese, and mercury via drinking water from gestational days (E) 1–10. Valproic acid (VPA) injected intraperitoneally once on (E) 8.5 served as a positive control. Young male offspring were tested for behavioral deficits using four standardized behavioral assays. In this study, in utero exposure to heavy metals resulted in multiple behavioral abnormalities that persisted into adulthood. VPA and manganese induced changes in perseverative/impulsive behavior and social dominance behavior, arsenic caused changes only in perseverative/impulsive behavior, and lead induced abnormalities in social interaction in comparison to the control animals. Brain samples from Mn, Pb, and VPA treated and control animals were evaluated for changes in CpG island methylation in promoter regions and associated changes in gene expression. The Chd7 gene, essential for neural crest cell migration and patterning, was found to be hypomethylated in each experimental animal tested compared to water-treated controls. Furthermore, distinct patterns of CpG island methylation yielded novel candidate genes for further investigation.

Plasma level of transforming growth factor β 1 in children with autism spectrum disorder

BackgroundAutism spectrum disorders (ASDs) are a group of neurodevelopmental disorders characterized by pervasive abnormalities in social interaction and communication, and repetitive and restricted behavioral patterns and interests. ASD include autistic disorder, Asperger’s disorder, pervasive developmental disorder not otherwise specific and childhood disintegrative disorders. ObjectivesTo detect plasma level of transforming growth factor beta 1 (TGFβl) in children with ASD and to find out correlation between the plasma level of TGFβ1 and severity of ASD. Patients and methodsOur study included 30 patients with autistic spectrum disorder (ASD) diagnosed on the basis of criteria of autistic spectrum disorders as defined in Diagnostic and Statistical Manual of Mental Disorders fourth edition text revised (DSM-IV) (TR). They were 26 males and 4 females, their ages ranged from 3years to 13years. Thirty apparently healthy sex and age matched children served as controls (22 males and 8 females). They were subjected to full history taking, clinical examination and severity rating using Child Autistic Rating Scale of Children (CARS) and Diagnostic and Statistical Manual of Mental Disorders fourth edition text revised (DSM-IV) (TR). ResultsOur study revealed: (a) sex distribution among the patient group with male/female ratio 6.5:1; (b) mean value of maternal age was significantly higher among patients than controls; (c) about 50% of patients had a history of prenatal complication; (d) the patient group shows lower plasma level of TGFβ1 compared to the control group. ConclusionThere may be an important role for the immune system in autism spectrum disorders that may have profound implications for diagnosis and treatment of this disorder. A negative correlation was found between severities of ASD and TGFβ1 plasma level.

Intervention pro-sociale chez l’enfant et l’adolescent avec trouble du spectre autistique sans déficit intellectuel : intérêt du support vidéo

The category of pervasive developmental disorders (PDD) without intellectual disability (including Asperger syndrome and high-functioning autism) has increased steadily among individuals since the 1980s. Although some symptoms may decrease with age, functional disability persists and is largely related to abnormalities in social interaction. Within the framework of PDD without intellectual disability, improving social skills appears to be a primary target for intervention programs. Despite a recent increase in the number of studies on this topic, few validated programs are yet available for clinical settings. We have developed an intervention targeting the improvement of social skills from the analysis of video sequences. The goal of this intervention is to promote communication within the group through sharing their interests and emotions, and to enhance the understanding of social situations. In order to assess the efficiency of this intervention, we have conducted a prospective, open, and uncontrolled study. First, it aimed at assessing the immediate effect of our intervention on a single social skill (communication) in an experimental situation (in the group) and in an ecological situations (family and school). Second, this study aimed at assessing the effects of this intervention on the subjects' social adjustment. This study included 16 individuals with high-functioning autism/Asperger syndrome. Participants were evaluated before and after a 6-month video-based training using measures of socio-communicative and adaptive skills. Results revealed a statistically significant increase in the communication skills not only in the group (15.5%), but also at home (13.7%) and at school (8.7%). The evaluation of socio-adaptive behavior indicates a statistically significant increase in communication (12%), family (7%) and social autonomy (8%), and leisure activities (8%). The communication and social adjustment scores obtained upon inclusion were low, despite low autistic intensity scores. However, the improvement at six months was significant for most studied variables. These results are consistent with our clinical findings and seem partly explained by the use of video supports as the mediator of exchanges within the group. However, because of some methodological limitations, the conclusions on the effects of the intervention should be nuanced. This type of intervention seems to be an interesting therapeutic indication for individuals with high-functioning autism/Asperger syndrome. The first results are encouraging, and all participants enjoyed attending the meetings. These conclusion elements encourage us to continue this intervention and to pursue further research by studying the impact on the individuals' quality of life.