Autism Spectrum Disorder Symptoms Research Articles

A network meta-analysis of the effect of physical exercise on core symptoms in patients with autism spectrum disorders

ObjectiveTo compare the effects of various sports exercise programs on the core symptoms of patients with autism spectrum disorder (ASD).MethodsWe searched the China National Knowledge Infrastructure, VIP databases, Wanfang databases, Cochrane Library, PubMed, EMBASE, and Web of Science databases from their inception to February 2023 for randomized controlled trial that investigated the effect of sports exercise on the core symptoms of ASD. The overall risk of bias in the included literature was summarized using the revised Cochrane Randomized Trial Risk of Bias Tool (ROB2), and network meta-analysis was used to compare the intervention effects.ResultsA total of 30 studies involving 1,375 participants were included. The results showed that sports exercise programs, including 8–12 weeks of ball sports (SMD = −5.35, 95%CI: −7.57, −3.23), horse riding (SMD = −3.71, 95%CI: −6.18, −1.13), 8–12 weeks of comprehensive sports exercise (SMD = −2.17, 95%CI: −3.99, −0.44), and more than 12 weeks of comprehensive sports exercise (SMD = −3.75, 95%CI: −6.33, −1.24), significantly improved social interaction disorders. Furthermore, 8–12 weeks of ball sports (SMD = −4.36, 95%CI: 2.04, 6.73) and more than 12 weeks of comprehensive sports exercise (SMD = 3.65, 95%CI: 1.40, 6.08) significantly improved repetitive behaviors and restricted interests.ConclusionSports exercise can improve the core symptoms of ASD patients, and different symptoms show a selective response to different exercise elements.Systematic review registrationhttps://www.crd.york.ac.uk/prospero/, identifier CRD42023455806.

Art therapy for children and adolescents with autism: a systematic review

ABSTRACT Background Children and adolescents with autism spectrum disorder (ASD) experience a variety of social, behavioural and motor symptoms that impact their daily life. The benefits of art therapy (AT) have been demonstrated with other populations. Aims: This review aimed to investigate the effectiveness of AT for children and adolescents with ASD. Methods Following best practice standards in the conduct of systematic reviews, a comprehensive search of MEDLINE, Emcare, Embase, Cochrane Library, PsycINFO, OTseeker and Education Resources Information Center databases and grey literature was conducted in February 2023. Two reviewers independently undertook a two-stage literature screening process. The McMaster critical appraisal tool was utilised to determine the methodological quality of the included studies. A narrative synthesis was used to synthesise the results. Results Seven studies of varying methodological quality were included in this review. The modality and parameters of AT varied between studies, as did measures of outcomes. However, improvements in social skills (communication, interpersonal relationships and social behaviour), behavioural skills (hyperactivity/inattention and assertion) and motor skills (fine motor skills, balance and flexibility) were reported in the literature. Conclusions While AT may offer positive improvements of ASD symptoms for children and adolescents, further methodologically rigorous research is required to substantiate these findings. Implications The use of AT in clinical practice should be underpinned by sound clinical reasoning and use of robust outcome measures to evaluate the impact of such interventions.

Attention-deficit/hyperactivity disorder: clinical phenotypes, polymorphism of life-course manifestations, and therapeutic strategies

Attention-deficit/hyperactivity disorder (ADHD) is a common neurobehavioral disorder that manifests in childhood and persists into adulthood. The prevalence of ADHD (USA/worldwide) in children and adolescents is 9.5/5.29 %, in adults — 4.4/2.5 %. The disorder has strong genetic correlations with numerous mental disorders and neurological diseases, in particular with post-traumatic stress disorder, addiction to cannabis, cocaine, recurrent and bipolar affective disorders, behavioral disorders, which is the biological basis of its clinical polymorbidity. Symptoms of ADHD overlap with other clinical manifestations of neurodevelopmental disorders (symptoms of autistic spectrum disorders, speech disorders, movement disorders, dyslexia, cognitive impairment), forming a polymorphic spectrum of pervasive developmental variants. Psychostimulants have been the standard of ADHD treatment for over 50 years. In 2002, atomoxetine became the first nonstimulant medication approved by the Food and Drug Administration for the treatment of ADHD, first in children and later in adult patients. Stimulant and nonstimulant medications have been shown to be effective in different phenotypes of ADHD (comorbidity with other mental and neurological disorders). In case of comorbidity of ADHD with anxiety, tics, atomoxetine has an advantage over stimulants and, together with alpha-2-adrenergic receptor agonists, can be recommended as the first drug. The presence of comorbid anxiety disorder or recurrent depression does not impact the efficacy and side effects of atomoxetine. Thus, atomoxetine is an effective drug and not only improves the symptoms of ADHD, but also plays a certain role in the treatment of patients with comorbid depression and anxiety.

The Role of Everyday Executive Function in Observed Social Symptoms of Autism Spectrum Disorder.

Recent research suggests there may be differences in the social presentations of autistic males and females. Camouflaging is believed to account for some of these differences and executive function (EF) may support compensatory social behaviors. As few studies have explored the role of sex and everyday EF when evaluating specific social difficulties among autistic youth, the present study seeks to address this. The Social Responsiveness Scale-2 (SRS-2) was used to measure types of social difficulties and the Behavioral Rating Inventory of Executive Function-2 (BRIEF-2) served as a measure of everyday EF. Four three-step hierarchical multiple regressions were conducted with SRS-2 social subscales as dependent variables. Autism symptom severity, BRIEF-2 EF Indices (i.e., behavioral, emotional, and cognitive regulation), and sex served as independent variables. Types of EF impairment significantly predicted social symptoms of autism. Behavioral dysregulation predicted all social symptoms assessed, cognitive dysregulation predicted social awareness and communication challenges, and emotion dysregulation predicted social motivation and communication difficulties. Sex significantly predicted social communication and cognition challenges, beyond the contributions of age, IQ, autism severity, and EF impairment. Findings from this study provide evidence for the contribution of EF to observed social symptoms of autism. Results suggest there may be sex-based differences in the relationship between EF and social problems for autistic youth. Implications and future directions are discussed.

Transcranial photobiomodulation in children aged 2-6 years: a randomized sham-controlled clinical trial assessing safety, efficacy, and impact on autism spectrum disorder symptoms and brain electrophysiology.

Small pilot studies have suggested that transcranial photobiomodulation (tPBM) could help reduce symptoms of neurological conditions, such as depression, traumatic brain injury, and autism spectrum disorder (ASD). To examine the impact of tPBM on the symptoms of ASD in children aged two to six years. We conducted a randomized, sham-controlled clinical trial involving thirty children aged two to six years with a prior diagnosis of ASD. We delivered pulses of near-infrared light (40 Hz, 850 nm) noninvasively to selected brain areas twice a week for eight weeks, using an investigational medical device designed for this purpose (Cognilum™, JelikaLite Corp., New York, United States). We used the Childhood Autism Rating Scale (CARS, 2nd Edition) to assess and compare the ASD symptoms of participants before and after the treatment course. We collected electroencephalogram (EEG) data during each session from those participants who tolerated wearing the EEG cap. The difference in the change in CARS scores between the two groups was 7.23 (95% CI 2.357 to 12.107, p = 0.011). Seventeen of the thirty participants completed at least two EEGs and time-dependent trends were detected. In addition, an interaction between Active versus Sham and Scaled Time was observed in delta power (Coefficient = 7.521, 95% CI -0.517 to 15.559, p = 0.07) and theta power (Coefficient = -8.287, 95% CI -17.199 to 0.626, p = 0.07), indicating a potential trend towards a greater reduction in delta power and an increase in theta power over time with treatment in the Active group, compared to the Sham group. Furthermore, there was a significant difference in the condition (Treatment vs. Sham) in the power of theta waves (net_theta) (Coefficient = 9.547, 95% CI 0.027 to 19.067, p = 0.049). No moderate or severe side effects or adverse effects were reported or observed during the trial. These results indicate that tPBM may be a safe and effective treatment for ASD and should be studied in more depth in larger studies.Clinical trial registration: https://clinicaltrials.gov/ct2/show/NCT04660552, identifier NCT04660552.

Awareness of Autism Spectrum Disorder Among Population of Kazakhstan.

In recent years, an abundance of research has substantiated the escalating prevalence of Autism Spectrum Disorder (ASD) on a global scale. The aim to assess the level of awareness regarding ASD among the Kazakhstan population, as well as their readiness to offer help to individuals affected by ASD. A cross-sectional study was conducted encompassing individuals aged 18 years and above, using both the Russian and Kazakh languages. The survey was administered through Google Forms during April to June 2023. The link to survey was disseminated through WhatsApp chats of different social groups, including primary care specialists (general practitioners and nurses), and educators from primary and secondary schools from all 17 regions of Kazakhstan, spanning urban and rural areas. 410 participants took part in the survey in total. Statistical significance will be defined as p-values < 0.05. Individuals aged 25 and above, who are both educated and employed, exhibit a greater awareness of ASD compared to other demographic groups. A low proportion of respondents (18.3%) demonstrated familiarity with the key symptoms of ASD as well as on its causes. Furthermore, it's noteworthy that the primary resource for acquiring information about ASD was the internet for both of these regions. Low awareness on ASD symptoms and treatment methods was identified in both areas. There is a need to develop activities to increase the public awareness on ASD, including knowledge on early symptoms of ASD and facilities that address the needs of people on the ASD and their families.

Effects of mini-basketball training program on social communication impairments and regional homogeneity of brain functions in preschool children with autism spectrum disorder

BackgroundSocial communication impairments (SCI) is a core symptom of autism spectrum disorder (ASD) and is marked by challenges in social interaction. Although physical exercise has been shown to improve SCI, this finding has not been supported by comprehensive scientific evidence. Existing research has established a strong link between the SCI in children with ASD and abnormalities in regional homogeneity (ReHo). Therefore, investigating the effects of physical exercise on SCI and Reho in patients with ASD may help to elucidate the neurological mechanisms involved.MethodsThe present study included 30 preschool children diagnosed with ASD, with 15 participants in each group (experimental and control). The experimental group underwent a 12-week mini-basketball training program (MBTP) based on routine behavioral rehabilitation, while the control group only received routine behavioral rehabilitation. The Social Responsiveness Scale-Second Edition (SRS-2) was employed to assess SCI in both groups. Resting-state functional magnetic resonance imaging technology was used to evaluate ReHo in both groups.ResultsAfter 12-week of MBTP, significant group × time interactions were observed between the experimental and control groups in total SRS-2 scores (F = 14.514, p < 0.001, ηp2 = 0.341), as well as in the domains of social cognition (F = 15.620, p < 0.001, ηp2 = 0.358), social communication (F = 12.460, p < 0.01, ηp2 = 0.308), and autistic mannerisms (F = 9.970, p < 0.01, ηp2 = 0.263). No statistical difference was found in the scores for the social awareness subscale and social motivation subscale in the group × time interaction (all p > 0.05). The experimental group exhibited increased ReHo in the right Cerebellum_Crus1 and right parahippocampal gyrus, coupled with decreased ReHo in the left middle frontal gyrus (orbital part), left superior frontal gyrus (dorsolateral), left postcentral gyrus, and right superior parietal gyrus. Furthermore, a decrease in ReHo in the left postcentral gyrus positively correlated with changes in social communication scores in SCI behaviors (p < 0.05).ConclusionsOur study underscores the effectiveness of a 12-week MBTP in ameliorating SCI and abnormalities in ReHo among preschool children with ASD.Trial registrationThe trial is retrospectively registered on the Chinese Clinical Trial Registry (ChiCTR1900024973; August 5, 2019).

Salience network connectivity is altered in 6-week-old infants at heightened likelihood for developing autism

Converging evidence implicates disrupted brain connectivity in autism spectrum disorder (ASD); however, the mechanisms linking altered connectivity early in development to the emergence of ASD symptomatology remain poorly understood. Here we examined whether atypicalities in the Salience Network – an early-emerging neural network involved in orienting attention to the most salient aspects of one’s internal and external environment – may predict the development of ASD symptoms such as reduced social attention and atypical sensory processing. Six-week-old infants at high likelihood of developing ASD based on family history exhibited stronger Salience Network connectivity with sensorimotor regions; infants at typical likelihood of developing ASD demonstrated stronger Salience Network connectivity with prefrontal regions involved in social attention. Infants with higher connectivity with sensorimotor regions had lower connectivity with prefrontal regions, suggesting a direct tradeoff between attention to basic sensory versus socially-relevant information. Early alterations in Salience Network connectivity predicted subsequent ASD symptomatology, providing a plausible mechanistic account for the unfolding of atypical developmental trajectories associated with vulnerability to ASD.

Cluster analysis of teachers report for identifying symptoms of autism spectrum and/or attention deficit hyperactivity in school population: EPINED study.

An early detection of Neurodevelopmental Disorders (NDDs) is crucial for their prognosis; however, the clinical heterogeneity of some disorders, such as autism spectrum disorder (ASD) or attention-deficit hyperactivity disorder (ADHD) is an obstacle to accurate diagnoses in children. In order to facilitate the screening process, the current study aimed to identify symptom-based clusters among a community-based sample of preschool and school-aged children, using behavioral characteristics reported by teachers. A total of 6894 children were assessed on four key variables: social communication differences, restricted behavior patterns, restless-impulsiveness, and emotional lability (pre-schoolers) or inattention and hyperactivity-impulsivity (school-aged). From these behavioral profiles, four clusters were identified for each age group. A cluster of ASD + ADHD and others including children with no pathology was clearly identified, whereas two other clusters were characterized by subthreshold ASD and/or ADHD symptoms. In the school-age children, the presence of ADHD was consistently observed with ASD patterns. In pre-schoolers, teachers were more proficient at identifying children who received a diagnosis for either ASD and/or ADHD from an early stage. Considering the significance of early detection and intervention of NDDs, teachers' insights are important. Therefore, promptly identifying subthreshold symptoms in children can help to minimize consequences in social and academic functioning.

Clinical and neuropsychological correlates of theta-band functional excitation-inhibition ratio in autism: An EEG study

ObjectiveHow abnormal brain signaling impacts cognition in autism spectrum disorder (ASD) remained elusive. This study aimed to investigate the local and global brain signaling in ASD indicated by theta-band functional excitation-inhibition (fE/I) ratio and explored psychophysiological relationships between fE/I, cognitive deficits, and ASD symptomatology. MethodsA total of 83 ASD and typically developing (TD) individuals participated in this study. Participants’ interference control and set-shifting abilities were assessed. Resting-state electroencephalography (EEG) was used for estimating theta-band fE/I ratio. ResultsASD individuals (n = 31 without visual EEG abnormality; n = 22 with visual EEG abnormality) generally performed slower in a cognitive task tapping interference control and set-maintenance abilities, but only ASD individuals with visually abnormal EEG performed significantly slower than their TD counterparts (Bonferroni-corrected ps < .001). Heightened theta-band fE/I ratios at the whole-head level, left and right hemispheres were observed in the ASD subgroup without visual EEG abnormality only (Bonferroni-corrected ps < .001), which remained highly significant when only data from medication-naïve participants were analyzed. In addition, higher left hemispheric fE/I ratios in ASD individuals without visual EEG abnormality were significantly correlated with faster interference control task performance, in turn faster reaction time was significantly associated with less severe restricted, repetitive behavior (Bonferroni-corrected ps ≤ .0017). ConclusionsDifferential theta-band fE/I within the ASD population. Heightened theta-band fE/I in ASD without visual EEG abnormality may be associated with more efficient filtering of distractors and a less severe ASD symptom manifestation. SignificanceBrain signaling, indicated by theta-band fE/I, was different in ASD subgroups. Only ASD with visually-normal EEG showed heightened theta-band fE/I, which was associated with faster processing of visual distractors during a cognitive task. More efficient distractor filtering was associated with less restricted, repetitive behaviors.

In vivo translocator protein in females with autism spectrum disorder: a pilot study.

Sex-based differences in the prevalence of autism spectrum disorder (ASD) are well-documented, with a male-to-female ratio of approximately 4:1. The clinical presentation of the core symptoms of ASD can also vary between sexes. Previously, positron emission tomography (PET) studies have identified alterations in the in vivo levels of translocator protein (TSPO)-a mitochondrial protein-in primarily or only male adults with ASD, with our group reporting lower TSPO relative to whole brain mean in males with ASD. However, whether in vivo TSPO levels are altered in females with ASD, specifically, is unknown. This is the first pilot study to measure in vivo TSPO in the brain in adult females with ASD using [11C]PBR28 PET-magnetic resonance imaging (MRI). Twelve adult females with ASD and 10 age- and TSPO genotype-matched controls (CON) completed one or two [11C]PBR28 PET-MRI scans. Females with ASD exhibited elevated [11C]PBR28 standardized uptake value ratio (SUVR) in the midcingulate cortex and splenium of the corpus callosum compared to CON. No brain area showed lower [11C]PBR28 SUVR in females with ASD compared to CON. Test-retest over several months showed stable [11C]PBR28 SUVR across time in both groups. Elevated regional [11C]PBR28 SUVR in females with ASD stand in stark contrast to our previous findings of lower regional [11C]PBR28 SUVR in males with ASD. Preliminary evidence of regionally elevated mitochondrial protein TSPO relative to whole brain mean in ASD females may reflect neuroimmuno-metabolic alterations specific to females with ASD.

Antipsychotic prescribing: national findings of children and adolescents attending mental health services in Ireland.

Antipsychotic prescribing trends vary internationally, albeit off-label use remains high (i.e., target symptoms). We aim to describe antipsychotic use, target conditions, target symptoms and dosing regimens in children and adolescents in Ireland. We used a sampled cohort from a national audit of children and adolescents attending mental health services with predefined inclusion and exclusion criteria from Jul-2021 to Dec-2021 who were prescribed at least one psychotropic medication and up to and including 17-years of age (n = 3528). Each service provided anonymised data. We described the frequency of antipsychotic medication, medication type, target condition, target symptom and medication doses. We used multivariable logistic regression, adjusted with available co-variates to assess the association of being prescribed an antipsychotic medication. Twelve percentage (n = 437) were prescribed an antipsychotic and 16-17-years (n = 211, 48.3%) was the most common age category. The commonest reason for prescribing an antipsychotic was target symptoms (i.e., off-label use) (n = 329; 75.%) and of these symptoms, agitation (n = 77/329; 25%) and irritability (56/239; 25%) were the most common. Quetiapine (n = 127; 29%) was the most common antipsychotic, followed by risperidone (n = 125; 28.6%), aripiprazole (n = 107; 24.5%), and olanzapine (n = 66; 15.1%). In adjusted analysis, having a psychotic disorder ((adjusted-odds-ratio) aOR: 39.63, CI 95%, 13.40-117.22), bipolar disorder (aOR: 16.96, CI 95%, 3.60-80.00), autism spectrum disorder (aOR: 3.24, CI 95%, 2.45-4.28) or aggression symptoms (aOR: 16.75, CI 95%, 7.22-38.89) was associated with prescribing an antipsychotic medication. This is the first study in children and adolescents that describes the target conditions and target symptoms for antipsychotic use in Ireland. Our results show a high proportion of antipsychotic prescribing based on target symptoms rather than target condition or diagnosis.

Exploring key genes and pathways associated with sex differences in autism spectrum disorder: integrated bioinformatic analysis.

Autism spectrum disorder (ASD) is a heterogenous neurodevelopmental disorder marked by functional abnormalities in brain that causes social and linguistic difficulties. The incidence of ASD is more prevalent in males compared to females, but the underlying mechanism, as well as molecular indications for identifying sex-specific differences in ASD symptoms remain unknown. Thus, impacting the development of personalized strategy towards pharmacotherapy of ASD. The current study employs an integrated bioinformatic approach to investigate the genes and pathways uniquely associated with sex specific differences in autistic individuals. Based on microarray dataset (GSE6575) extracted from the gene expression omnibus, the dysregulated genes between the autistic and the neurotypical individuals for both sexes were identified. Gene set enrichment analysis was performed to ascertain biological activities linked to the dysregulated genes. Protein-protein interaction network analysis was carried out to identify hub genes. The identified hub genes were examined to determine their functions and involvement in the associated pathways using Enrichr. Additionally, hub genes were validated from autism-associated databases and the potential small molecules targeting the hub genes were identified. The present study utilized whole blood transcriptomic gene expression analysis data and identified 2211 and 958 differentially expressed unique genes in males and females respectively. The functional enrichment analysis revealed that male hub genes were functionally associated with RNA polymerase II mediated transcriptional regulation whereas female hub genes were involved in intracellular signal transduction and cell migration. The top male hub genes exhibited functional enrichment in tyrosine kinase signalling pathway. The pathway enrichment analysis of male hub genes indicates the enrichment of papillomavirus infection. Female hub genes were enriched in androgen receptor signalling pathway and functionally enriched in focal adhesion specific excision repair. Identified drug like candidates targeting these genes may serve as a potential sex specific therapeutics. Wortmannin for males, 5-Fluorouracil for females had the highest scores. Targeted and sex-specific pharmacotherapies may be created for the management of ASD. The current investigation identifies sex-specific molecular signatures derived from whole blood which may serve as a potential peripheral sex-specific biomarkers for ASD. The study also uncovers the possible pharmacological interventions against the selected genes/pathway, providing support in development of therapeutic strategies to mitigate ASD. However, experimental proofs on biological systems are warranted.

Global pharmaceutical care approaches to autism spectrum disorder: a scoping review protocol.

The aim of the review is to map the literary evidence on pharmaceutical care approaches and trends being seen globally in the treatment of the signs and symptoms of autism spectrum disorder (ASD). ASD is a neurodevelopmental condition synonymous with sliding-scale behavioral, communication, and social problems. Causes include genetic and environmental factors. Pharmaceuticals are prescribed to treat the behavioral patterns of ASD. This review will incorporate studies that report on the pharmaceutical care approaches used to treat the signs and symptoms of ASD as well as to identify the global trends related to their use. Studies not falling under the ASD umbrella will be excluded. All primary, secondary, and gray literature will be included. No language restrictions will be applied. Studies from January 1, 1984 will be included. This review will be conducted in line with the JBI methodology for scoping reviews and reported using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews. A preliminary search of MEDLINE will be followed by searches of Emcare (Ovid), Nursing and Allied Health Premium (ProQuest), and Google Scholar. Two independent reviewers will screen titles and abstracts and extract data from selected sources. A third reviewer will adjudicate any conflicts until consensus is reached. The findings will be presented in a narrative summary with accompanying gap maps, figures, and tables. Open Science Framework https://doi.org/10.17605/OSF.IO/C234M.

An Update on Psychopharmacological Treatment of Autism Spectrum Disorder.

While behavioral interventions remain the mainstay of treatment of autism spectrum disorder (ASD), several potential targeted treatments addressing the underlying neurophysiology of ASD have emerged in the last few years. These are promising for the potential to, in future, become part of the mainstay treatment in addressing the core symptoms of ASD. Although it is likely that the development of future targeted treatments will be influenced by the underlying heterogeneity in etiology, associated genetic mechanisms influencing ASD are likely to be the first targets of treatments and even gene therapy in the future for ASD. In this article, we provide a review of current psychopharmacological treatment in ASD including those used to address common comorbidities of the condition and upcoming new targeted approaches in autism management. Medications including metformin, arbaclofen, cannabidiol, oxytocin, bumetanide, lovastatin, trofinetide, and dietary supplements including sulforophane and N-acetylcysteine are discussed. Commonly used medications to address the comorbidities associated with ASD including atypical antipsychotics, serotoninergic agents, alpha-2 agonists, and stimulant medications are also reviewed. Targeted treatments in Fragile X syndrome (FXS), the most common genetic disorder leading to ASD, provide a model for new treatments that may be helpful for other forms of ASD. Appeared originally in Neurotherapeutics 2022; 19:248-262.

Sex-differential gene expression in developing human cortex and its intersection with autism risk pathways

BackgroundSex-differential biology may contribute to the consistently male-biased prevalence of autism spectrum disorder (ASD). Gene expression differences between males and females in the brain can indicate possible molecular and cellular mechanisms involved, though transcriptomic sex differences during human prenatal cortical development have been incompletely characterized, primarily due to small sample sizes. MethodsWe performed a meta-analysis of sex-differential expression and co-expression network analysis in two independent bulk RNA-seq data sets generated from cortex of 273 prenatal donors without known neuropsychiatric disorders. To assess intersection between neurotypical sex differences and neuropsychiatric disorder biology, we tested for enrichment of ASD-associated risk genes and expression changes, neuropsychiatric disorder risk genes, and cell type markers within identified sex-differentially expressed genes (sex-DEGs) and sex-differential co-expression modules. ResultsWe identify 101 significant sex-DEGs, including Y chromosome genes, genes impacted by X chromosome inactivation, and autosomal genes. Known ASD risk genes, implicated by either common or rare variants, do not preferentially overlap with sex-DEGs. We identify one male-specific co-expression module enriched for immune signaling that is unique to one input data set. ConclusionsSex-differential gene expression is limited in prenatal human cortex tissue, though meta-analysis of large data sets allows for identification of sex-DEGs, including autosomal genes that encode proteins involved in neural development. Lack of sex-DEG overlap with ASD risk genes in prenatal cortex suggests that sex-differential modulation of ASD symptoms may occur in other brain regions, developmental stages, in specific cell types, or may involve mechanisms acting downstream from mutation-carrying genes.

Autism spectrum disorder profiles in RASopathies: Asystematic review.

RASopathies are associated with an increased risk of autism spectrum disorder (ASD). For neurofibromatosis type 1 (NF1) there is ample evidence for this increased risk, while for other RASopathies this association has been studied less. No specific ASD profile has been delineated so far for RASopathies or a specific RASopathy individually. We conducted a systematic review to investigate whether a specific RASopathy is associated with a specific ASD profile, or if RASopathies altogether have a distinct ASD profile compared to idiopathic ASD (iASD). We searched PubMed, Web of Science, and Open Grey for data about ASD features in RASopathies and potential modifiers. We included 41 articles on ASD features in NF1, Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). Individuals with NF1, NS, CS, and CFC on average have higher ASD symptomatology than healthy controls and unaffected siblings, though less than people with iASD. There is insufficient evidence for a distinct ASD phenotype in RASopathies compared to iASD or when RASopathies are compared with each other. We identified several potentially modifying factors of ASD symptoms in RASopathies. Our systematic review found no convincing evidence for a specific ASD profile in RASopathies compared to iASD, or in a specific RASopathy compared to other RASopathies. However, we identified important limitations in the research literature which may also account for this result. These limitations are discussed and recommendations for future research are formulated.

Augmented Reality Mobile Application for Autism Spectrum Disorder Rehabilitation

Autism Spectrum Disorder (ASD) is a neurological disorder in which a diagnosed child may have difficulty communicating socially or may have a repeated or limited set of behaviors. Recently, ASD cases have increased dramatically. This makes scientists interested in finding various drugs or therapies that can be used for children with autism. Social behavior therapy is one of therapy that has shown effectiveness in improving fundamental symptoms of ASD. With the rapid development of technology, social behavior therapy was then expanded by utilizing some of the latest technologies that can be beneficial for children with autism.  One of the therapies using the latest technology that can be utilized is making a quiz-based game by utilizing Augmented Reality (AR) to create 3D objects virtually. Spectrum Quiz is an example of an AR-based therapy game. This game is expected to improve the ability of children with autism to communicate socially. In the development of the Spectrum Quiz AR application, several tools are needed such as Adobe Illustrator, Unity, and Blender 3D.

Parents' perceptions of the impact of the novel coronavirus (COVID-19) on the eating behaviors and routines of children with autism spectrum disorders (ASD).

Restricted interests and repetitive behavior are characteristics of autism spectrum disorder (ASD). The likelihood that persons with ASD will respond adversely to unfamiliar situations is great. The novel coronavirus outbreak has resulted in disruptions to all aspects of routine and behavior. Hence, this study proposed to investigate the impact of the outbreak on the eating behavior and routines of children with ASD in Saudi Arabia through the perceptions of their parents. A cross-sectional study with a quantitative approach was utilized to obtain data from 150 parents of children with ASD aged ≤18 years in Saudi Arabia. The data collected included demographic data of the parents, the ASD status of the family, impact of COVID-19 to the family, eating behavior of the children with ASD, and daily routines of the children with ASD. Moreover, parents were able to provide comments regarding their children's eating behavior or daily routines. The study found that changes in the eating behavior of children with ASD were found to differ significantly (p<0.05) based on the number of children with ASD, the age of the children with ASD, the gender of the children with ASD, and the severity of their ASD symptoms. Moreover, changes to dinner-time routines were found to differ significantly (p<0.05) based on the age of the children with ASD. Also, changes to morning routines were found to differ significantly (p<0.05) based on the age of the children with ASD, their gender, and the severity of their ASD symptoms. Additionally, impact of COVID-19 to the family had a significant impact to eating behavior and daily routines of the children with ASD. This study found that the eating behavior and daily routines of children with ASD in Saudi Arabia have been considerably worsened and changed. The study recommends the collaboration of multidisciplinary teams and parents to modify or design interventions that help to change their eating behavior and routine can be implemented in the home. It also recommends the provision of virtual helplines to aid parents of children with ASD in such cases.

Dysfunction of striatal parvalbumin interneurons drives motor stereotypies in Cntnap2-/- mouse model of autism spectrum disorders.

The involvement of parvalbumin (PV) interneurons in autism spectrum disorders (ASD) pathophysiology has been widely described without clearly elucidating how their dysfunctions could lead to ASD symptoms. The Cntnap2-/- mice, an ASD mouse model deficient for a major ASD susceptibility gene, display core ASD symptoms including motor stereotypies, which are directly linked to striatal dysfunction. This study reveals that striatal PV interneurons display hyperexcitability and hyperactivity in Cntnap2-/- mice, along with a reduced response in medium spiny neurons. We also provide evidence for a crucial role of striatal PV interneurons in motor stereotypies by demonstrating that their selective inhibition rescued a wild type-like phenotype. Our study identifies how PV interneuron dysfunctions disrupt striatal circuitry and drive the motor stereotypies in ASD.