Features Of Autism Spectrum Disorder Research Articles

Atypical Impact of Action Effect Delay on Motor Performance in Autism.

Atypical sensory perception and motor impairments are primary features of autism spectrum disorder (ASD) that indicate atypical development and predict social and non-social challenges. However, their link is poorly understood. Sensory perception is often integrated with motor processes when a sensory effect is temporally contiguous with the motor response. Such sensory-motor coupling further improves motor behavior. Previous studies indicate alterations in sensory perception of action-effect temporal contiguity in ASD, which bares the question of how it may impact motor performance.People diagnosed with ASD and typically developed (TD) participants performed a speeded reaction-time task previously established to capture the facilitating impact of action's perceptual effect on motor response selection. The sensitivity of this mechanism to delays in the effect was measured, manipulating the action-effect temporal contiguity in a within-subject design.An immediate action effect (compared to a No-effect condition) facilitated response selection in the TD group. This facilitation effect was evident in the ASD group but did not show the typical sensitivity to the effect delay. While in the TD group, RT was shorter in the short (225ms) compared to the long (675ms) action effect delay condition, this distinguished pattern was absent in the ASD group.The findings provide supporting evidence that atypical motor performance in ASD results, at least in part, from an altered sensory perception of action effect temporal contiguity. We discuss the results in light of the reduced perceptual specialization account in ASD and its potential for undermining adaptive sensorimotor processes.

Internet Gaming Disorder in Children and Adolescents with Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder.

Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) have been related to an increased risk for behavioral addictions including online gaming. However, the relationship between these two conditions and Internet gaming disorder (IGD) is still debated. The aim of this study is to address this topic by exploring the prevalence of IGD in a consecutive sample of ASD youth and ADHD youth, compared with a normal control group, and by assessing selected psychopathological and neuropsychological features in ASD and ADHD patients with and without IGD. This study included 77 ASD patients (67 males, mean age 13.58 ± 2.75 years), 94 ADHD patients (79 males, mean age 11.46 ± 2.47 years), and 147 normal controls (NC) (mean age 13.9 ± 3.0 years, 114 males) that received structured measures for IGD (IAT, IGDS9-SF, and UADI). In the ADHD group, 72.34% of the sample were above the IGD cut-off, compared with 45.45% in the ASD group and 9.5% in the NC group. ASD patients with IGD presented with greater severity and more severe attention problems, with no difference in the ASD core symptoms between patients with and without IGD. In the comparison between the ASD and ADHD groups according to the presence of IGD, ASD patients with IGD were the most severe group according to the CGI (Clinical Global Impression) scale. The follow-up, conducted on 45 patients affected by ASD, showed an improvement in CGI and CGAS (Children's Global Assessment Scale) scores, but not in the IGD symptoms. These findings could place the diagnosis of ASD as a negative prognostic factor in the follow-up of aspects of video game addiction compared with ADHD.

Neuroimmune mechanisms in autism etiology - untangling a complex problem using human cellular models.

Autism spectrum disorder (ASD) affects 1 in 36 people and is more often diagnosed in males than in females. Core features of ASD are impaired social interactions, repetitive behaviors and deficits in verbal communication. ASD is a highly heterogeneous and heritable disorder, yet its underlying genetic causes account only for up to 80% of the cases. Hence, a subset of ASD cases could be influenced by environmental risk factors. Maternal immune activation (MIA) is a response to inflammation during pregnancy, which can lead to increased inflammatory signals to the fetus. Inflammatory signals can cross the placenta and blood brain barriers affecting fetal brain development. Epidemiological and animal studies suggest that MIA could contribute to ASD etiology. However, human mechanistic studies have been hindered by a lack of experimental systems that could replicate the impact of MIA during fetal development. Therefore, mechanisms altered by inflammation during human pre-natal brain development, and that could underlie ASD pathogenesis have been largely understudied. The advent of human cellular models with induced pluripotent stem cell (iPSC) and organoid technology is closing this gap in knowledge by providing both access to molecular manipulations and culturing capability of tissue that would be otherwise inaccessible. We present an overview of multiple levels of evidence from clinical, epidemiological, and cellular studies that provide a potential link between higher ASD risk and inflammation. More importantly, we discuss how stem cell-derived models may constitute an ideal experimental system to mechanistically interrogate the effect of inflammation during the early stages of brain development.

Atypical alpha band microstates produced during eyes-closed resting state EEG in autism

Electroencephalogram (EEG) microstates, which represent quasi-stable patterns of scalp topography, are a promising tool that has the temporal resolution to study atypical spatial and temporal networks in autism spectrum disorder (ASD). While current literature suggests microstates are atypical in ASD, their clinical utility, i.e., relationship with the core behavioural characteristics of ASD, is not fully understood. The aim of this study was to examine microstate parameters in ASD, and examine the relationship between these parameters and core behavioural characteristics in ASD. We compared duration, occurrence, coverage, global explained variance percentage, global field power and spatial correlation of EEG microstates between autistic and neurotypical (NT) adults. Modified k-means cluster analysis was used on eyes-closed, resting state EEG from 30 ASD (10 females, 28.97 ± 9.34 years) and 30 age-equated NT (13 females, 29.33 ± 8.88 years) adults. Five optimal microstates, A to E, were selected to best represent the data. Five microstate maps explaining 80.44% of the NT and 78.44% of the ASD data were found. The ASD group was found to have atypical parameters of microstate A, C, D, and E. Of note, all parameters of microstate C in the ASD group were found to be significantly less than NT. While parameters of microstate D, and E were also found to significantly correlate with subscales of the Ritvo Autism Asperger Diagnostic Scale – Revised (RAADS-R), these findings did not survive a Bonferroni Correction. These findings, in combination with previous findings, highlight the potential clinical utility of EEG microstates and indicate their potential value as a neurophysiologic marker that can be further studied.

Clinical impact and in vitro characterization of ADNP variants in pediatric patients.

Helsmoortel-Van der Aa syndrome (HVDAS) is a rare genetic disorder caused by variants in the activity-dependent neuroprotector homeobox (ADNP) gene; hence, it is also called ADNP syndrome. ADNP is a multitasking protein with the function as a transcription factor, playing a critical role in brain development. Furthermore, ADNP variants have been identified as one of the most common single-gene causes of autism spectrum disorder (ASD) and intellectual disability. We assembled a cohort of 15 Chinese pediatric patients, identified 13 variants in the coding region of ADNP gene, and evaluated their clinical phenotypes. Additionally, we constructed the corresponding ADNP variants and performed western blotting and immunofluorescence analysis to examine their protein expression and subcellular localization in human HEK293T and SH-SY5Y cells. Our study conducted a thorough characterization of the clinical manifestations in 15 children with ADNP variants, and revealed a broad spectrum of symptoms including global developmental delay, intellectual disability, ASD, facial abnormalities, and other features. In vitro studies were carried out to check the expression of ADNP with identified variants. Two cases presented missense variants, while the remainder exhibited nonsense or frameshift variants, leading to truncated mutants in in vitro overexpression systems. Both overexpressed wildtype ADNP and all the different mutants were found to be confined to the nuclei in HEK293T cells; however, the distinctive pattern of nuclear bodies formed by the wildtype ADNP was either partially or entirely disrupted by the mutant proteins. Moreover, two variants of p.Y719* on the nuclear localization signal (NLS) of ADNP disrupted the nuclear expression pattern, predominantly manifesting in the cytoplasm in SH-SY5Y cells. Our study was limited by a relatively small sample size and the absence of a longitudinal framework to monitor the progression of patient conditions over time. Additionally, we lacked in vivo evidence to further indicate the causal implications of the identified ADNP variants. Our study reported the first cohort of HVDAS patients in the Chinese population and provided systematic clinical presentations and laboratory examinations. Furthermore, we identified multiple genetic variants and validated them in vitro. Our findings offered valuable insights into the diverse genetic variants associated with HVDAS.

Similar Gap-Overlap Profiles in Children with Fragile X Syndrome and IQ-Matched Autism.

Fragile X syndrome (FXS) is a single-gene disorder characterized by moderate to severe cognitive impairment and a high association with autism spectrum disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD). Atypical visual attention is a feature of FXS, ASD, and ADHD. Thus, studying early attentional patterns in young children with FXS can offer insight into early emerging neurocognitive processes underlying challenges and contribute to our understanding of common and unique features of ASD and ADHD in FXS. The present study examined visual attention indexed by the gap-overlap paradigm in children with FXS (n = 39) compared to children with ASD matched on intellectual ability and age (n = 40) and age-matched neurotypical controls (n = 34). The relationship between gap-overlap performance and intellectual ability, ASD, and ADHD across groups was characterized. Saccadic reaction times (RT) were collected across baseline, gap, and overlap conditions. Results indicate no group differences in RT for any conditions. However, RT of the ASD and NT groups became slower throughout the experiment whereas RT of the FXS group did not change, suggesting difficulties in habituation for the FXS group. There was no relationship between RT and intellectual ability, ADHD, or ASD symptoms in the FXS and ASD groups. In the NT group, slower RT was related to elevated ADHD symptoms only. Taken together, findings suggest that the social attention differences documented in FXS and ASD may be due to other cognitive factors, such as reward or motivation, rather than oculomotor control of visual attention.

Knowledge and awareness of autism spectrum disorder among Libyans

Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by the presence of delayed or defective development before the age of three years, as well as behavioral difficulties in social communication and interaction. Objective: To evaluate ASD knowledge and awareness, as well as ASD information sources in a sample of the Libyan general population, and to explore factors that could be associated with the knowledge and awareness. Methods: A cross-sectional study was carried out between 22 March and 13 August 2022 using a self-administered questionnaire. Results: Out of 2195 participants, 48.9% were females and 51.1% were males. Three-quarters of the participants (74.8%) presented a low level of knowledge. Of those whose source of knowledge of autism was social media, 78.9% had a low level of knowledge. However, 57.9% of the participants showed a good level of awareness of autism symptoms and signs. Conclusion: The participants had a limited understanding of the causes and characteristics of ASD. Raising community awareness of the causes and characteristics of ASD is a priority.

Lockdown Drills and Young Children with Autism Spectrum Disorder: Practitioner Confidence, Experiences, and Perceptions.

Lockdown drill practice is part of the "new normal" in schools for young children with autism spectrum disorder (ASD) and educational practitioners in K-12 schools across the United States. These drills place a tremendous amount of responsibility on practitioners (i.e., teachers, paraprofessionals) that is beyond the scope of their training and typical requirements of their position in the classroom. Lockdown drills also require young children with ASD to engage in actions that are inherently hard for most young children but could be especially difficult for children with ASD who need individualized support to develop the executive function and self-regulation skills to participate in drills successfully. This study investigates practitioners' training experiences and perceptions of perceived confidence in teaching young children with ASD lockdown drills. Practitioner's self-efficacy was measured through survey analysis and their perceptions and experiences were investigated through individual interviews. Results indicated low rates of confidence to teach lockdown drills to young children with ASD and higher rates of confidence were correlated with more drill practice. Themes gleaned from interview data revealed varied training and practice experiences for children and practitioners, general characteristics of ASD that help or hinder children's participation, connections between these characteristics and aspects of lockdown drills that make them difficult to teach, and identification of practitioner responsibilities beyond following protocols.

Bumetanide to treat autism spectrum disorders: are complex administrative regulations fit to treat heterogeneous disorders?

Introduction: Extensive experimental observations suggest that the regulation of ion fluxes and, notably, chloride are impacted in autism spectrum disorders (ASD) and other neurodevelopmental disorders. The specific NKCC1 cotransporter inhibitor Bumetanide has been shown to attenuate electrophysiological and behavioral features of ASD in experimental models. Both pilot and phase 2 double-blind randomized independent trials have validated these effects with thousands of children treated successfully. Both brain imaging and eye tracking observations also validate these observations. However, final large phase 3 trials failed, with no significant differences between placebo and treated children. Methods: Here, I discuss the possible reasons for these failures and discuss the exclusive reliance on complex patent cooperation Treaty (PCT) regulations. Indeed, available data suggest that bumetanide responders could be identified by relying notably on EEG measures, suggesting that biological sub-populations of patients might benefit from the treatment. Results: These observations raise important debates on whether treating only a % of children with ASD is acceptable. Discussion: It is likely that in many disorders, the heterogeneity of the pathological event precludes a single general treatment for all, suggesting that trials centered on selective populations of responders might be essential for large clinical trials to succeed.

Causes, Symptoms and Treatments for Autism: Literature Review

In the past few years, there has been critical advance in understanding the causes, symptoms, and medications for autism spectrum disorder (ASD). This literature review aims to summarize the current understanding of autism spectrum disorder (ASD) by examining various studies and research conducted in recent years. This review will focus on the causes, effects, different symptoms, and solutions for individuals that suffer from autism spectrum disorder (ASD). The patients often experience a wide range of effects that impact their social communication, behavior, and sensory processing. Difficulties in social interaction, communication challenges, repetitive behaviors, and sensory sensitivities are common characteristics of ASD. These effects can vary in severity and manifestation from person to person, highlighting the heterogeneous nature of the disorder.Genetic factors play a significant part, with certain gene mutations and varieties contributing to the development of ASD. Moreover, natural components and pre-birth complications are also related with higher risks of ASD.The paper discusses the implications of these findings in refining our understanding of autism and ultimately developing improved interventions and support mechanisms for individuals with autism spectrum disorder.

Evaluating Parents' Concerns, Needs, and Levels of Satisfaction with the Services Provided for ASD Children in Saudi Arabia.

Supporting children with autism spectrum disorder (ASD) and their parents is vital in improving their children's abilities and their parents' ability to care for them. Thus, parents' perceptions of and levels of satisfaction with the services provided for their children must be assessed. This study aimed to understand parents' perceptions of and satisfaction with the speech-language services (SLS) provided for ASD children in different health facilities in Saudi Arabia. This cross-sectional study included 109 parents of ASD children. The survey included five sections dealing with (1) general information about the child; (2) assessment of the child's ASD characteristics (including their age when diagnosed, when they first noticed symptoms, and their speech, language, and communication abilities); (3) the reasons for enrollment in SLS sessions; (4) questions about SLS; and (5) parents' perceptions of SLS, satisfaction with the service, descriptions of their children's progress, and the respect and support they received. Parents' satisfaction levels were significantly higher when they had easy access to SLS, sufficient information and support, proper training in applying therapy exercises at home, and perceived respect and support from speech and language pathologists (SLPs). The reasons for discontinuing SLS included high session costs, the need for initial behavioral sessions, the lack of qualified SLPs, the end of the sessions, the lack of improvement, the nonavailability of specialized centers, and parents' dependence on home training only. They also sought opportunities for work and education, continuous and intensive SLS sessions, reduced costs, centers for adults with ASD, and accessible schools. Parents' main concerns were their children's poor speech and language skills, independence, and social acceptance. The study highlighted the importance of understanding parents' experiences with SLS, identifying the factors that enhance SLS use by ASD children, and improving parents' satisfaction with such services.

Clinical study on the efficacy of Kalyanaka Leha Churna (Poly-herbal Ayurveda Powder) and Yapana Basti (Medicated Enema) in Language and Communication Disorders secondary to Autism Spectrum Disorder (ASD)– Study Protocol

Background: Autism Spectrum Disorder (ASD), in children is characterised by neuro-developmental challenges, which lack pharmaceutical solutions, making behavioural interventions the primary treatment in the contemporary system. Ayurveda offers a holistic approach to treating the condition with a combination of herbs-mineral medicines and Panchakarma therapies. This clinical study investigates the efficacy of Ayurveda interventions, specifically Kalyanaka Leha Churna, a poly-herbal powder commonly used in speech disorders of children and Yapana Basti, a poly-herbal decoction enema in addressing language and communication disorders secondary to ASD. Objectives of the Study: The primary objectives include assessing the effectiveness of Ayurveda intervention with the standard control therapies on the clinical features of ASD concerning speech. Materials and methods: The present trial has been approved by the IEC (JSSAMC/1106/2022-23) and duly registered in the clinical trial registry of India (CTRI/2023/07/055877). Twenty subjects in each group, aged 3-6 years, diagnosed with language and communication disorders secondary to ASD, will be recruited from various centres in and around Mysuru, Karnataka. Assessments will utilise the Indian Scale for Assessment of Autism (ISAA), Receptive and Expressive Emergent Language Scale (REELS), and Communication Deall Developmental (COMDEALL). Statistical analyses, including the Wilcoxon sign rank test, will be employed to evaluate the results. Conclusion: Language and Communication Disorders secondary to ASD are not an uncommon condition in children in the current day. Ayurveda classifies such a clinical condition under the ambit of ‘Unmada’. The difficulty to communicate has many negative consequences in children including poor academic performance, quality of life and behavioural problems. A significant result of therapy can be just supplementing speech as such or by any other means. This study aims to provide insights into the potential role of Ayurveda in this condition which will help in enhancing the quality of life for children with ASD and their families, presenting a holistic approach.

Social Behavior in Animal Models of Autism Spectrum Disorder.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by social deficits and stereotyped, repetitive patterns of behaviors, limited interests, and cognitive impairment. Especially, social deficit has been considered a core feature of ASD. Because of the limitations of the experimental approach in humans, valid animal models are essential in an effort to identify novel therapeutics for social deficits in ASD. The genetic and environmental factors are clinically relevant to the pathophysiology of ASD. Epidemiological studies demonstrate environmental interventions such as prenatal exposure to valproic acid (VPA). Prenatal exposure to VPA represents a robust model of ASD exhibiting face, construct, and predictive validity. Here, we introduce protocols of the social interaction test and the three-chamber test for evaluating social deficits in mice prenatally exposed to VPA.

Autistic spectrum disorder in women : how does gender operate?

Autism spectrum disorder (ASD) is a common neurodevelopmental disorder, that affects both pediatric and adult populations and presents heterogeneously. The understanding of the clinical characteristics of ASD has expanded, in parallel with societal developments, including the integration of the notion of gender in medicine. It appears that individuals affected by this disorder, regardless of their age, are neither detected, diagnosed, nor followed or treated in the same manner depending on their gender. This article proposes to review current knowledge on ASD, its expression based on gender, factors influencing care, and the consequences for patients of exposure to gender bias.

Binding Folate Receptor Alpha Autoantibody Is a Biomarker for Leucovorin Treatment Response in Autism Spectrum Disorder.

Autism spectrum disorder (ASD) affects up to 1 in 36 children in the United States. It is a heterogeneous neurodevelopmental disorder with life-long consequences. Patients with ASD and folate pathway abnormalities have demonstrated improved symptoms after treatment with leucovorin (folinic acid), a reduced form of folate. However, biomarkers for treatment response have not been well investigated and clinical trials are lacking. In this retrospective analysis, a cohort of prospectively collected data from 110 consecutive ASD clinic patients [mean (SD) age: 10.5 (6.2) years; 74% male] was examined. These patients all underwent testing for folate receptor alpha autoantibodies (FRAAs) and soluble folate binding proteins (sFBPs) biomarkers and were treated with leucovorin, if appropriate. Analyses examined whether these biomarkers could predict response to leucovorin treatment as well as the severity of ASD characteristics at baseline. The social responsiveness scale (SRS), a measure of core ASD symptoms, and the aberrant behavior checklist (ABC), a measure of disruptive behavior, were collected at each clinic visit. Those positive for sFBPs had more severe ASD symptoms, and higher binding FRAA titers were associated with greater ABC irritability. Treatment with leucovorin improved most SRS subscales with higher binding FRAA titers associated with greater response. Leucovorin treatment also improved ABC irritability. These results confirm and expand on previous studies, underscore the need for biomarkers to guide treatment of folate pathways in ASD, and suggest that leucovorin may be effective for children with ASD.

Autism Spectrum Disorder with Epilepsy: A Research Protocol for a Clinical and Genetic Study.

Autism spectrum disorder (ASD) is a common neurodevelopmental condition affecting ~1% of people worldwide. Core ASD features present with impaired social communication abilities, repetitive and stereotyped behaviors, and atypical sensory responses and are often associated with a series of comorbidities. Among these, epilepsy is frequently observed. The co-occurrence of ASD and epilepsy is currently thought to result from common abnormal neurodevelopmental pathways, including an imbalanced excitation/inhibition ratio. However, the pathological mechanisms involved in ASD-epilepsy co-morbidity are still largely unknown. Here, we propose a research protocol aiming to investigate electrophysiological and genetic features in subjects with ASD and epilepsy. This study will include a detailed electroencephalographic (EEG) and blood transcriptomic characterization of subjects with ASD with and without epilepsy. The combined approach of EEG and transcriptomic studies in the same subjects will contribute to a novel stratification paradigm of the heterogeneous ASD population based on quantitative gene expression and neurophysiological biomarkers. In addition, our protocol has the potential to indicate new therapeutic options, thus amending the current condition of absence of data and guidelines for the treatment of ASD with epilepsy.

Neuropathological insights from SHANK3 mutant animal models

SHANK3 is a protein primarily found in the postsynaptic density (PSD) of excitatory synapses in the brain. Heterozygous mutations in the shank3 gene have been linked to autism spectrum disorder (ASD) and intellectual disability. There are various animal models carrying mutant SHANK3 that have provided valuable insights into the pathogenesis of ASD. In this review, we will discuss these animal models, with a specific focus on the neuropathology observed in shank3 mouse and monkey models. These models are particularly important as they share closer similarities to humans and are capable of more accurately recapitulating the neuropathological features observed in individuals with ASD. Mice with mutations in the shank3 gene exhibit deficits in social behavior, communication, and repetitive behaviors, which are core features of ASD and support the link between SHANK3 and ASD. However, studies of monkey models with SHANK3 targeting by CRISPR/Cas9 have demonstrated that, unlike mice with completely knocked-out shank3 genes, the monkey model with complete deletion of SHANK3 displays a reduction in the number of neuronal cells. This review discusses the species-specific neuropathology in SHANK3/shank3 knockout mice and monkeys. The differences in neuropathology in SHANK3/shank3 mutant mouse and monkey models suggest that non-human primate models are highly valuable for investigating the mechanism of neurodegeneration that may selectively occur in primate brains.

Knowledge and awareness of autism spectrum disorder among Libyans.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by the presence of delayed or defective development before the age of three years, as well as behavioral difficulties in social communication and interaction. To evaluate ASD knowledge and awareness, as well as ASD information sources in a sample of the Libyan general population, and to explore factors that could be associated with the knowledge and awareness. A cross-sectional study was carried out between 22 March and 13 August, 2022 using a self-administered questionnaire. The study included 2350 individual aged 18 and up from households living in different regions in Libya (eastern, southern, central, and western). Out of 2195 participants, 48.9% were females and 51.1% were males. Three-quarters of the participants (74.8%) presented a low level of knowledge about autism causes. Of those whose source of knowledge of autism was social media, 78.9% had a low level of knowledge. However, 57.9% of the participants showed a good level of awareness of autism symptoms and signs. The participants had a limited understanding of the causes and characteristics of ASD. Raising community awareness of the causes and characteristics of ASD is a priority.

Objective assessment of autism spectrum disorder based on performance in structured interpersonal acting-out tasks with prosodic stability and variability.

In this study, we sought to objectively and quantitatively characterize the prosodic features of autism spectrum disorder (ASD) via the characteristics of prosody in a newly developed structured speech experiment. Male adults with high-functioning ASD and age/intelligence-matched men with typical development (TD) were asked to read 29 brief scripts aloud in response to preceding auditory stimuli. To investigate whether (1) highly structured acting-out tasks can uncover the prosodic of difference between those with ASD and TD, and (2) the prosodic stableness and flexibleness can be used for objective automatic assessment of ASD, we compared prosodic features such as fundamental frequency, intensity, and mora duration. The results indicate that individuals with ASD exhibit stable pitch registers or volume levels in some affective vocal-expression scenarios, such as those involving anger or sadness, compared with TD and those with TD. However, unstable prosody was observed in some timing control or emphasis tasks in the participants with ASD. Automatic classification of the ASD and TD groups using a support vector machine (SVM) with speech features exhibited an accuracy of 90.4%. A machine learning-based assessment of the degree of ASD core symptoms using support vector regression (SVR) also had good performance. These results may inform the development of a new easy-to-use assessment tool for ASD core symptoms using recorded audio signals.

UBE3A: The Role in Autism Spectrum Disorders (ASDs) and a Potential Candidate for Biomarker Studies and Designing Therapeutic Strategies.

Published reports from the CDC's Autism and Development Disabilities Monitoring Networks have shown that an average of 1 in every 44 (2.3%) 8-year-old children were estimated to have ASD in 2018. Many of the ASDs exhibiting varying degrees of autism-like phenotypes have chromosomal anomalies in the Chr15q11-q13 region. Numerous potential candidate genes linked with ASD reside in this chromosomal segment. However, several clinical, in vivo, and in vitro studies selected one gene more frequently than others randomly and unbiasedly. This gene codes for UBE3A or Ubiquitin protein ligase E3A [also known as E6AP ubiquitin-protein ligase (E6AP)], an enzyme involved in the cellular degradation of proteins. This gene has been listed as one of the several genes with a high potential of causing ASD in the Autism Database. The gain of function mutations, triplication, or duplication in the UBE3A gene is also associated with ASDs like Angelman Syndrome (AS) and Dup15q Syndrome. The genetic imprinting of UBE3A in the brain and a preference for neuronal maternal-specific expression are the key features of various ASDs. Since the UBE3A gene is involved in two main important diseases associated with autism-like symptoms, there has been widespread research going on in understanding the link between this gene and autism. Additionally, since no universal methodology or mechanism exists for identifying UBE3A-mediated ASD, it continues to be challenging for neurobiologists, neuroscientists, and clinicians to design therapies or diagnostic tools. In this review, we focus on the structure and functional aspects of the UBE3A protein, discuss the primary relevance of the 15q11-q13 region in the cause of ASDs, and highlight the link between UBE3A and ASD. We try to broaden the knowledge of our readers by elaborating on the possible mechanisms underlying UBE3A-mediated ASDs, emphasizing the usage of UBE3A as a prospective biomarker in the preclinical diagnosis of ASDs and discuss the positive outcomes, advanced developments, and the hurdles in the field of therapeutic strategies against UBE3A-mediated ASDs. This review is novel as it lays a very detailed and comprehensive platform for one of the most important genes associated with diseases showing autistic-like symptoms. Additionally, this review also attempts to lay optimistic feedback on the possible steps for the diagnosis, prevention, and therapy of these UBE3A-mediated ASDs in the upcoming years.