Cases Of Autism Research Articles

Ayurvedic management of Autism - A Case Report

Ayurveda, an ancient system of medicine in India, offers a holistic approach to health and wellness. When applied to Autism, Ayurveda emphasizes individualized treatment plans that balance the body's Doshas (Vata, Pitta, and Kapha) through diet, herbal remedies, lifestyle modifications, and therapies like Panchakarma. This approach aims to address both physical and mental imbalances, which are believed to contribute to Autism spectrum disorders (ASD). In this article, presentation of an interesting case of autism, not responding to the conventional protocol in modern medicine, managed with Ayurvedic treatment. The present case report demonstrates clinical and ISAA score changes with Ayurvedic medicinal interventions.

Stress Assessment in Parents of Children With Autism Spectrum Disorder: A Prospective Case-Control Study.

Autism spectrum disorder (ASD) is a disorder that is manageable but has no cure. Therefore, it is associated with parental stress, which is often not given importance. Early identification and holistic management of children with ASD are needed. This prospective case-control study, conducted over 18 months, included 111 newly diagnosed autism cases (ages 2-9) from the Child Development Clinic at Shri Mahant Indiresh Hospital, Dehradun, India, diagnosed as per the International Clinical Epidemiology Network (INCLEN) criteria (DSM-V). Controls were 99 typically developing children from a well-baby clinic. Data collection involved administering the Autism Parenting Stress Scale and a predesigned questionnaire to both cases and controls. Parents with psychiatric or mental health issues were excluded. Parents of children with autism exhibited significantly higher stress scores compared to parents of typically developing children. In our study, out of a total of 210 subjects, 52.9% were diagnosed with autism, while 47.1% were controls.Cases were analyzed based on household and socioeconomic background. It was found that 94.6% of the cases showed significant stress levels. ASDsignificantly impacts parental stress, particularly among families from higher socioeconomic backgrounds and metropolitan areas. This study emphasizes the need for targeted support and interventions to address elevated stress levels and improve family dynamics, especially for parents of higher-functioning children.

Non-COVID Respiratory Infections Related Emergency Room Visits Among Autistic Adults in the United States

IntroductionThis is a retrospective study to examine the risk of non-COVID-19 respiratory infection (RI) related emergency department (ED) visits and hospitalizations among autistic adults compared to non-autistic adults using the 2018 Healthcare Cost and Utilization Project Nationwide Emergency Department Sample (HCUP-NEDS). MethodsThe data were analyzed in 2022 using the ICD-10-CM codes to extract about 46,996 autistic case records that were matched by age and sex with non-autistic records (140,997) in a 1:3 case-control ratio. Respiratory infections were also identified using the ICD-10-CM codes and classified by type. Logistic regression models were conducted for the likelihood of presenting with RI infections to the ED and subsequent hospitalization. All models were adjusted for covariates. ResultsAutistics were more likely to present with any type of respiratory infection at the emergency department (AOR = 1.83: CI= 1.69-2.42), lower respiratory infections (AOR=1.37: CI=1.09-1.50), and pneumonia (AOR=2.42: CI=1.98-2.47) compared to non-autistics. They are also more likely to be hospitalized from RIs during ED visits (AOR=3.87: CI=3.21-4.30), including upper and lower RIs, pneumonia, and bronchitis. ConclusionsAutistic individuals were more likely to experience emergency department visits and hospitalizations due to respiratory infections compared to non-autistic individuals. Amid growing evidence of the disproportionate impact of COVID-19 on the autistic population, our findings highlight a broader, pre-existing burden of respiratory infections among autistic adults in the US that extends beyond the recent pandemic.

Sex-biasing influence of autism-associated Ube3a gene overdosage at connectomic, behavioral, and transcriptomic levels.

Genomic mechanisms enhancing risk in males may contribute to sex bias in autism. The ubiquitin protein ligase E3A gene (Ube3a) affects cellular homeostasis via control of protein turnover and by acting as transcriptional coactivator with steroid hormone receptors. Overdosage of Ube3a via duplication or triplication of chromosomal region 15q11-13 causes 1 to 2% of autistic cases. Here, we test the hypothesis that increased dosage of Ube3a may influence autism-relevant phenotypes in a sex-biased manner. We show that mice with extra copies of Ube3a exhibit sex-biasing effects on brain connectomics and autism-relevant behaviors. These effects are associated with transcriptional dysregulation of autism-associated genes, as well as genes differentially expressed in 15q duplication and in autistic people. Increased Ube3a dosage also affects expression of genes on the X chromosome, genes influenced by sex steroid hormone, and genes sex-differentially regulated by transcription factors. These results suggest that Ube3a overdosage can contribute to sex bias in neurodevelopmental conditions via influence on sex-differential mechanisms.

Short tandem repeat expansions in cortical layer-specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder.

Short tandem repeats (STRs) are repetitive DNA sequences and highly mutable in various human disorders. While the involvement of STRs in various genetic disorders has been extensively studied, their role in autism spectrum disorder (ASD) remains largely unexplored. In this study, we aimed to investigate genetic association of STR expansions with ASD using whole genome sequencing (WGS) and identify risk loci associated with ASD phenotypes. We analyzed WGS data of 634 ASD families and performed genome-wide evaluation for 12,929 STR loci. We found rare STR expansions that exceeded normal repeat lengths in autism cases compared to unaffected controls. By integrating single cell RNA and ATAC sequencing datasets of human postmortem brains, we prioritized STR loci in genes specifically expressed in cortical development stages. A deep learning method was used to predict functionality of ASD-associated STR loci. In ASD cases, rare STR expansions predominantly occurred in early cortical layer-specific genes involved in neurodevelopment, highlighting the cellular specificity of STR-associated genes in ASD risk. Leveraging deep learning prediction models, we demonstrated that these STR expansions disrupted the regulatory activity of enhancers and promoters, suggesting a potential mechanism through which they contribute to ASD pathogenesis. We found that individuals with ASD-associated STR expansions exhibited more severe ASD phenotypes and diminished adaptability compared to non-carriers. Short tandem repeat expansions in cortical layer-specific genes are associated with ASD and could potentially be a risk genetic factor for ASD. Our study is the first to show evidence of STR expansion associated with ASD in an under-investigated population.

Relationship between Parenting Educational Styles and Well-Being in Families with Autistic Children: A Systematic Review.

The prevalence of diagnosed cases of autism has increased rapidly, which has raised interest in studying the variables related to the well-being of these families. The purpose of this paper is to review the recent literature on other variables related to family well-being, such as parenting styles. We conducted a systematic review using the PRISMA check list and bias assessment with the aim of analyzing if the concepts of autism, well-being and parenting style are related. We screened 755 references from relevant databases like Scopus, Pubmed, PscyInfo EBSCO, Web of Science and Dialnet, updated on May 2024. Sixteen full text articles and abstracts were read. It was identified that the authoritative parenting style, as well as those based on warmth, establishing relationships and emotional bonding, and low expressed emotion were positively related to family well-being. On the other hand, authoritarian, permissive and overprotective styles, as well as critical, punishing and training-based, were negatively associated with well-being and quality of family life.

Regressive autism with autoimmune encephalitis: case report and literature review of subtype of autism spectrum disorder

About one-third of individuals with autism spectrum disorder (ASD) show a sudden loss of acquired skills between the 2nd or 3rd years of life. The primary areas of loss were grouped into language skills, social interest, adaptive functioning, and motor skills. A 4-year and 2-month-old boy presented to the child and adolescent mental health and disease outpatient clinic with his parents with complaints of decreased eye contact, and regression in speech. His developmental milestones were within the typical range of three years and two months. During the investigation into the organic etiology of regression, serum anti-CASPR2 positivity was detected, and intravenous immunoglobulin administration was initiated. After 6 months of treatment and special education, there was a slight decrease in the CARS score along with improvements in adaptation to change, visual response, and non-verbal communication. This rare case of regressive autism accompanied by autoimmune encephalitis provides further evidence in the field that autoimmune encephalitis may influence the development of the regressive subtype of ASD. Differential diagnosis is crucial because additional immunotherapy may be beneficial in these cases. Further investigation is needed to identify the relationship.

Identity and audiovisual language: the case of autism in film and television in three high-impact products

ABSTRACT Audiovisual representation models in film and television influence the public constitution of people's identity and lifestyles. This is particularly important in minority groups or those with some type of disability, since both representation and learning about said condition are assumed by the majority. For this reason, this article analyses the representation of three high-impact audiovisual products: the film Rain Man (1988), the medical drama The Good Doctor (2017) and the legal series Extraordinary Attorney Woo (2022), which include autistic protagonists, and assume a certain discourse on this condition in view of the general public. In this sense, the analysis of their content and an opinion survey of a sample of viewers in the Peruvian environment are developed. All this, with the purpose of analysing the degree of representativeness that these audiovisual products have regarding autism, its characteristics and/or the construction of stereotypes.

Regional aspects of autism morbidity in the Kabardino-Balkar Republic

The article presents the results of a comprehensive scientific comparative analysis of the results of the study of statistical and epidemiological indicators of autism incidence in the population of the Kabardino-Balkar Republic for 2019–2021, which is of practical importance in describing the diverse manifestations of autism incidence dynamics on the territory of a separate region of the Russian Federation. The results of the study of the probable relationship of age, sex, place of residence and social everyday features with the prevalence of autism in the population of the Kabardino-Balkar Republic showed that autism is more prevalent among the child population of the Kabardino-Balkar Republic. The leading position among the identified cases of autism is in male children under 14 years of age living in urban settings. Any peculiarities in the change of living conditions were not revealed. This suggests a connection between autism and demographic indicators, with no connection with social features of residence in the region.

Shank3 deficiency elicits autistic-like behaviors by activating p38α in hypothalamic AgRP neurons

BackgroundSH3 and multiple ankyrin repeat domains protein 3 (SHANK3) monogenic mutations or deficiency leads to excessive stereotypic behavior and impaired sociability, which frequently occur in autism cases. To date, the underlying mechanisms by which Shank3 mutation or deletion causes autism and the part of the brain in which Shank3 mutation leads to the autistic phenotypes are understudied. The hypothalamus is associated with stereotypic behavior and sociability. p38α, a mediator of inflammatory responses in the brain, has been postulated as a potential gene for certain cases of autism occurrence. However, it is unclear whether hypothalamus and p38α are involved in the development of autism caused by Shank3 mutations or deficiency.MethodsKyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis and immunoblotting were used to assess alternated signaling pathways in the hypothalamus of Shank3 knockout (Shank3−/−) mice. Home-Cage real-time monitoring test was performed to record stereotypic behavior and three-chamber test was used to monitor the sociability of mice. Adeno-associated viruses 9 (AAV9) were used to express p38α in the arcuate nucleus (ARC) or agouti-related peptide (AgRP) neurons. D176A and F327S mutations expressed constitutively active p38α. T180A and Y182F mutations expressed inactive p38α.ResultsWe found that Shank3 controls stereotypic behavior and sociability by regulating p38α activity in AgRP neurons. Phosphorylated p38 level in hypothalamus is significantly enhanced in Shank3−/− mice. Consistently, overexpression of p38α in ARC or AgRP neurons elicits excessive stereotypic behavior and impairs sociability in wild-type (WT) mice. Notably, activated p38α in AgRP neurons increases stereotypic behavior and impairs sociability. Conversely, inactivated p38α in AgRP neurons significantly ameliorates autistic behaviors of Shank3−/− mice. In contrast, activated p38α in pro-opiomelanocortin (POMC) neurons does not affect stereotypic behavior and sociability in mice.LimitationsWe demonstrated that SHANK3 regulates the phosphorylated p38 level in the hypothalamus and inactivated p38α in AgRP neurons significantly ameliorates autistic behaviors of Shank3−/− mice. However, we did not clarify the biochemical mechanism of SHANK3 inhibiting p38α in AgRP neurons.ConclusionsThese results demonstrate that the Shank3 deficiency caused autistic-like behaviors by activating p38α signaling in AgRP neurons, suggesting that p38α signaling in AgRP neurons is a potential therapeutic target for Shank3 mutant-related autism.

Towards control in agents for human behavior change: an autism case

This paper introduces an automated decision-making framework for providing controlled agent behavior in systems dealing with human behavior-change. Controlled behavior in such settings is important in order to reduce unexpected side-effects of a system’s actions. The general structure of the framework is based on a psychological theory, the Theory of Planned Behavior (TPB), capturing causes to human motivational states, which enables reasoning about dynamics of human motivation. The framework consists of two main components: 1) an ontological knowledge-base that models an individual’s behavioral challenges to infer motivation states and 2) a transition system that, in a given motivation state, decides on motivational support, resulting in transitions between motivational states. The system generates plans (sequences of actions) for an agent to facilitate behavior change. A particular use-case is modeled regarding children with Autism Spectrum Conditions (ASC) who commonly experience difficulties in everyday social situations. An evaluation of a proof-of-concept prototype is performed that presents consistencies between ASC experts’ suggestions and plans generated by the system.

Demographic and autism characteristics as predictors of age of autism diagnosis of individuals with autism in Paraguay.

Autism is a lifelong condition characterized by repetitive behaviors and social communication differences. The reported cases of autism increased globally in the past years. Detecting autism early and providing appropriate supports promptly are crucial for better outcomes. Yet, little research focuses on what factors interplay in the diagnostic process of autistic children in Paraguay. We gathered data from 176 caregivers of autistic children under 18 years in Paraguay. Through a detailed analysis, we found that child's age, child's age at the caregiver's first concerns about their development, and the child's verbal skills are key in predicting the age of autism diagnosis in Paraguay. Educating caregivers and professionals about autism and social communication development can help identify autism early and provide timely support.

Pediatric autism spectrum disorder: Role of yoga prana vidya system as complementary medicine in accelerating patient progress

Autism spectrum disorder (ASD) is a complex formative condition, described by tenacious difficulties in social cooperation and correspondence and confined and dreary behavior. There is no solution for Autism and a few treatments are accessible as well as certain drugs to further develop life for impacted youngsters and grown-ups. This paper presents a case of a boy who was treated from the age of 8 years with Yoga Prana Vidya (YPV) healing complementarily to other therapies achieving positive progress. This study uses the case study method by going through the patient’s medical records, the healer’s records, and the patient’s mother’s feedback. YPV healing was applied as a long-term intervention spanning 3 years, complementary to home-based “Son-Rise” program therapy. Within the first 15 days of YPV healing, the boy’s improvements were noticeable, and progress began after a stagnant condition over the previous 2 years. After 3 months of YPV intervention, the boy became more receptive to faster learning. After a year of healing, the boy’s condition improved from Grade 1 to Grade 2 of the “Son-Rise” gradation. At the end of the 3rd year, the boy achieved most of the Grade 3. YPV healing is being continued further. The integrated and holistic system of YPV healing therapy was successfully applied to the autism case as a complementary therapy, achieving the patient’s faster progress, and enabling parents to overcome social stigma. Further research is recommended on the application of YPV healing therapy in the treatment of ASD.

Health got graphic! The role of Graphic Medicine in unpacking autism

The paper brings together Graphic Medicine, namely the use of comics and graphic novels in the healthcare field, and Disability Studies to shed light on the contribution of the graphic medium to the social understanding of disability, focusing on the case of autism. Based on 15 in-depth interviews with healthcare professionals and using graphic novels as a form of knowledge elicitation, the article shows both the strengths and the weaknesses of graphic materials as research and communication tools in the field of Autism scholarship. The two graphic novels considered have been efficient to portray the lived experiences of autistic people and to partially challenge the medical model of autism, even for healthcare professionals. Autism-related comics can contribute to the critical study of autism, by both giving ways of expression to autistic people, caregivers and promoting counter-narratives, like neurodiversity, among healthcare professionals.

A clinical case of autism in combination with epileptic encephalopathy and mental retardation due to SYNGAP1 mutation

A clinical case of autism in combination with epileptic encephalopathy and mental retardation due to SYNGAP1 mutation

Autistic Persons in the Labour Market in the Light of ECtHR Case-law

Abstract The European acquis on the protection of human rights is indisputable. This also applies to the case-law of the European Court of Human Rights. However, this acquis is not extensive enough to cover all the problems Europeans have. The aim of this article is to establish the status quo in the area of anti-discrimination against persons on the autism spectrum in the labour market, taking into account the related Strasbourg jurisprudence in question, as a starting point for potential proceedings (in this area) before the European Court of Human Rights. Currently, the body of doctrine in this area is not extensive, and the increasing number of diagnosed cases of autism may in the future necessitate a deeper reflection on the guarantees provided by international law. The article will generally characterise autism, discuss ECtHR jurisprudence relating to persons with disabilities and (briefly) the right to work, discuss the labour market participation of persons on the autism spectrum in selected countries as a challenge to jurisprudence, and present a conclusion.

A case of drug-resistant epilepsy and autism with de novo SLC6A8 gene variant

A case of drug-resistant epilepsy and autism with de novo SLC6A8 gene variant

Chromosomal aberration detection in Iraqi children with autism

Autism spectrum disorder (ASD) Autism is a significant disease that has spread in recent decades; Autism is a result of a severe disability, evolutionary behavioral syndrome. Recently autism has increased in Iraq, and because of the lack of studies in this field, in the present study In this study, we investigate the genetic defects in the chromosomes of children with autism using specific probes detected by the FISH technique. Seventy biological samples (blood) were collected from children with autism from different areas around Baghdad. Advanced genetic tests will be done, including karyotype and FISH technique. Results showed chromosomal aberrations in specific sites in chromosomes represented by deletion in autistic cases (100%), where it was commonplace in sites 5p15.33-p15.2; 7q31.1-q1.31; 7q31.1-q32.2; 15q11.2-q13.3 for males and 18q21.32-q23; Xp22.33- p22.31 for females. In conclusion, the current study showed the significant value of karyotyping and FISH technique in diagnosing chromosomal deflections in autism patients.

Music for autism: a protocol for an international randomized crossover trial on music therapy for children with autism.

The notion of a connection between autism and music is as old as the first reported cases of autism, and music has been used as a therapeutic tool for many decades. Music therapy holds promise as an intervention for individuals with autism, harnessing their strengths in music processing to enhance communication and expression. While previous randomized controlled trials have demonstrated positive outcomes in terms of global improvement and quality of life, their reliance on psychological outcomes restricts our understanding of underlying mechanisms. This paper introduces the protocol for the Music for Autism study, a randomized crossover trial designed to investigate the effects of a 12-week music therapy intervention on a range of psychometric, neuroimaging, and biological outcomes in school-aged children with autism. The protocol builds upon previous research and aims to both replicate and expand upon findings that demonstrated improvements in social communication and functional brain connectivity following a music intervention. The primary objective of this trial is to determine whether music therapy leads to improvements in social communication and functional brain connectivity as compared to play-based therapy. In addition, secondary aims include exploring various relevant psychometric, neuroimaging, and biological outcomes. To achieve these objectives, we will enroll 80 participants aged 6-12 years in this international, assessor-blinded, crossover randomized controlled trial. Each participant will be randomly assigned to receive either music therapy or play-based therapy for a period of 12 weeks, followed by a 12-week washout period, after which they will receive the alternate intervention. Assessments will be conducted four times, before and after each intervention period. The protocol of the Music for Autism trial provides a comprehensive framework for studying the effects of music therapy on a range of multidimensional outcomes in children with autism. The findings from this trial have the potential to contribute to the development of evidence-based interventions that leverage strengths in music processing to address the complex challenges faced by individuals with autism. Clinical Trial Registration: Clinicaltrials.gov identifier NCT04936048.

Examining the validity of the use of ratio IQs in psychological assessments

Intelligence tests are amongst the most used psychological assessments, both in research and clinical settings. To avoid missing data points, for participants who cannot complete Intelligence tests normed for their age, ratio IQ scores (RIQ) are routinely computed and used as a proxy of IQ. Here, we use the case of autism to examine the validity of this widely used, yet never scientifically validated, practice. We examine the differences between standard full-scale IQ (FSIQ) and RIQ. Data was extracted from four databases in which age, FSIQ scores and subtests raw scores (from which RIQ scores could be calculated) were available for 16,751 autistic participants between 2 and 18 years old. The Intelligence tests included were the MSEL (N = 12,033), DAS-II early years (N = 1270), DAS-II school age (N = 2848), WISC-IV (N = 471) and WISC-V (N = 129). RIQs were computed for each participant as well as the discrepancy (DSC) between RIQ and FSIQ. We performed a multiple linear regression model to assess the effects of age and FSIQ on DSC for each IQ test. Participants at the extremes of the FSIQ distribution tended to have a greater DSC than participants with average FSIQ. Furthermore, age significantly predicted the DSC, with RIQ superior to FSIQ for younger participants while the opposite was found for older participants. Similar results were found in secondary analyses including typically developing children. These results question the validity of the RIQ as an alternative scoring method, especially for individuals at the extremes of the normal distribution, for whom RIQs are most often employed.