Prevalence Of Autism Spectrum Disorder Research Articles

Disruption of Circadian Sleep/Wake Rhythms in Infants May Herald Future Development of Autism Spectrum Disorder.

We investigated whether the abnormal rhythms in infants are related to the future development of autism spectrum disorder (ASD), using a questionnaire from September to October 2016. The parents of 160 children with ASD (male, n = 123; female, n = 37) were recruited from two hospitals in K and H cities, and as a control group, 145 children (male, n = 75; female, n = 70) were recruited from four nursery schools in T city. The associations between ASD and bedtime and waking time on weekdays and weekends in infancy (<1 years of age), at 1-3 years, and at 3-5 years of ages were studied using a multivariable logistic regression analysis. In particular, at <3 years of age, the following factors were associated with an increased prevalence of ASD in the future: (1) short sleep periods (<8 h); (2) taking a long time to fall asleep (>60 min); (3) sleep beginning after 22:00; (4) a wake-up time after 08:00; and (5) frequent (>3 times) and long-term awakening periods (>60 min). The misalignment and/or shift of the circadian rhythm in infants may be one of the precursors and/or risk factors for the future development of ASD.

Exposure to Environmental Pesticides and the Risk of Autism Spectrum Disorders: A Population-Based Case-Control Study.

Background and Objectives: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by challenges in communication, social interactions, and repetitive behaviors. Although the factors that influence the development of this condition are unknown, certain chemical compounds such as pesticides have been proposed as possible contributors. Due to the lack of an established causal link between pesticide exposure and ASD, this study aimed to evaluate this potential association. Materials and Methods: A case-control study was carried out to ascertain the prevalence and risk associated with ASD in relation to pesticide exposure over a 21-year study period (2000-2021). Results: We included 2821 individuals diagnosed with ASD residing in areas of both high and low pesticide exposure in southern Spain. There was a rise in the ASD prevalence rate in regions with elevated pesticide use when compared to regions with low use [odds ratio (OR): 1.34, 95% confidence interval (CI), (1.24-1.44)]. Notably, men had the highest likelihood, with an OR: 1.42, 95% CI, (1.30-1.55). Furthermore, after performing multiple binary logistic regression adjusted for age, sex, and geographical area, males exhibited a higher likelihood compared to females [OR: 2.41, 95% CI, (2.21-2.62)]. Conclusions: Overall, this research suggests a connection between heightened environmental pesticide exposure due to increased agricultural use and autism.

Paradigm Shift: New Approaches to Understanding Autism Spectrum Disorders

A significant increase in the prevalence of autism spectrum disorders (ASD), both worldwide and in our country, dictates the need to search for modern and effective methods of prevention, diagnosis and medical care for such patients. At the same time, the results of numerous biomedical research in the field of autism are not reflected in practical healthcare. Aims of this work — substantiation of new approaches to the organization of medical care for people with ASD. The results of promising areas of autism research in the field of genetics, epigenetics, metabolomics, microbiome and multimorbidity, which marked a paradigm shift in the understanding of autism spectrum disorders, and requiring implementation in practice, are analyzed. Based on the concept of 7-p pediatrics (programming child development and health, preventive, predictive, personalized, participatory, multiprofessional, progressive), the necessity and possibility of implementing the results of scientific research into real clinical practice of managing children with autism are substantiated. The results of fundamental scientific research in the field of ASD, revealing their complex and multifaceted nature, allow us to talk about a paradigm shift in understanding this disorder Based on a new concept of medical care — 7P-pediatrics — the results of scientific research can be translated into real clinical practice, including diagnostic, therapeutic, preventive and rehabilitative effects on autism, as well ase programming of the optimal trajectory of the cognitive-behavioral phenotype of children with neurodevelopmental features, including ASD.

Extended Reality-Based Mobile App Solutions for the Therapy of Children With Autism Spectrum Disorders: Systematic Literature Review.

The increasing prevalence of autism spectrum disorder (ASD) has driven research interest on the therapy of individuals with autism, especially children, as early diagnosis and appropriate treatment can lead to improvement in the condition. With the widespread availability of virtual reality, augmented reality (AR), and mixed reality technologies to the public and the increasing popularity of mobile devices, the interest in the use of applications and technologies to provide support for the therapy of children with autism is growing. This study aims to describe the literature on the potential of virtual reality, AR, and mixed reality technologies in the context of therapy for children with ASD. We propose to investigate and analyze the temporal distribution of relevant papers, identify the target audience for studies related to extended reality apps in ASD therapy, examine the technologies used in the development of these apps, assess the skills targeted for improvement in primary studies, explore the purposes of the proposed solutions, and summarize the results obtained from their application. For the systematic literature review, 6 research questions were defined in the first phase, after which 5 international databases (Web of Science, Scopus, ScienceDirect, IEEE Xplore Digital Library, and ACM Digital Library) were searched using specific search strings. Results were centralized, filtered, and processed applying eligibility criteria and using the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. The results were refined using a technical and IT-oriented approach. The quality criteria assessed whether the research addressed ASDs, focused on children's therapy, involved targeted technologies, deployed solutions on mobile devices, and produced results relevant to our study. In the first step, 179 publications were identified in Zotero reference manager software (Corporation for Digital Scholarship). After excluding articles that did not meet the eligibility or quality assessment criteria, 28 publications were finalized. The analysis revealed an increase in publications related to apps for children with autism starting in 2015 and peaking in 2019. Most studies (22/28, 79%) focused on mobile AR solutions for Android devices, which were developed using the Unity 3D platform and the Vuforia engine. Although 68% (19/28) of these apps were tested with children, 32% (9/28) were tested exclusively by developers. More than half (15/28, 54%) of the studies used interviews as an evaluation method, yielding mostly favorable although preliminary results, indicating the need for more extensive testing. The findings reported in the studies highlight the fact that these technologies are appropriate for the therapy of children with ASD. Several studies showed a distinct trend toward the use of AR technology as an educational tool for people with ASD. This trend entails multidisciplinary cooperation and an integrated research approach, with an emphasis on comprehensive empirical evaluations and technology ethics.

Referral patterns and outcomes of children who failed Modified Checklist for Autism in Toddlers screening during routine health screening at maternal and child health clinics in the northeast district of Penang: A retrospective cohort study.

Autism spectrum disorder (ASD) is a developmental disability that causes significant social, communication and behavioural challenges. The Modified Checklist for Autism in Toddlers (M-CHAT) is a parent-administered screening questionnaire for ASD used at 18 and 36 months of age. This study aimed to determine the outcomes of children who failed M-CHAT screening during routine health screening at maternal and child health clinics in northeast district, Penang and the prevalence of ASD among those with a final diagnosis. This retrospective cohort study was conducted at 12 maternal and child health clinics. All children who failed M-CHAT screening at 18 and 36 months from January 2017 to December 2021 and received a final diagnosis before 31 March 2022 were recruited. All information required was recorded in a data collection form and analysed using SPSS. Multiple logistic regression was performed to assess the association between the factors and ASD status. Eighty-two children failed M-CHAT screening. Fifty children did not receive a final diagnosis. Among 32 children who received a final diagnosis, 25 were diagnosed with ASD (78.1%). Among the children who underwent M-CHAT screening, the odds of having ASD increased by a factor of 1.2 for every 1-unit increase in age at final diagnosis. In northeast district, Penang, more than half of children who fail M-CHAT screening have no final diagnosis. The specificity of the M-CHAT is 78.1% among children with a final diagnosis of ASD. The age at final diagnosis is positively associated with the diagnosis of ASD.

Exploring knowledge of autism, its causes and treatment among immigrant and nonimmigrant parents in Somalia\\Somaliland

BackgroundThe prevalence of autism spectrum disorders (ASDs) has increased over the recent years; however, little is known about the experience of parents of children with autism in Africa such as Somalia. The aim of this study is to understand the knowledge on autism of Somali parents of children with autism and their perceptions of causes and treatment of ASD.MethodsWe conducted a qualitative study involving 22 parents of children with autism who lived in Mogadishu and Hargeisa; the two largest cities in Somalia. In-depth interviews were used to collect the data. Of the 22 participants, 9 were returned immigrants and 13 were local people (non-immigrants). Data were analysed using thematic analysis.ResultsThe data revealed that most of the parents hold the belief that their children’s autism were caused by the measles vaccine. The findings demonstrated that parents sought diagnosis and treatment care from outside Somalia due to the lack of experience of health providers in the diagnosis and treatment of autism. The data also revealed a lack of knowledge about autism among the public with resultant stigma and discrimination against children with autism and their families.ConclusionsEfforts to increase public knowledge on autism, its causes and treatments are of paramount importance, while a public health campaign designed to eliminate the stigma subjected to children with autism is necessary to improve the quality of life of children with autism and their caregivers. Finally, to counteract vaccine hesitancy, particularly in response to the measles vaccine, health policy makers should take steps to separate the cooccurrence of the onset of autism symptoms and the provision of the measles vaccine.

A narrative review of acupuncture treatment for Autism Spectrum disorder

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterised by impaired reciprocal social communication and interaction, as well as restrictive behaviours, interests, and activities. Researchers estimate that approximately 2% of the South African population is affected by ASD. The prevalence of ASD in South Africa remains unknown, and minimal research has been conducted within the schooling systems to accurately inform the rates, distribution, and profile of needs for children with this disorder. The aim of this study was to conduct a narrative review of acupuncture treatment for ASD. A literature search targeted sources with the highest level of evidence and relevance to the topic. Searches were conducted on credible databases, focusing on high-quality publications with the most up-to-date information. A small number of studies (n=6) met the criteria for this narrative review. The studies reported statistically significant improvements in areas such as cognition, comprehension, social interaction, behaviours, speech and language, as well as food and noise sensitivity. Treatment was well tolerated, with minimal adverse effects. It may be concluded that there is evidence supporting the efficacy of acupuncture treatment for ASD; however, the quality of the studies has been relatively poor, and the sample sizes were insufficient. Research on this topic is still in its early stages, and these findings need confirmation through further high-quality research.

Key personal factors and moderation effect of belief on shaping the willingness for early ASD detection in Jordan: A SEM Analysis

Background: Autism Spectrum Disorder (ASD) prevalence increases healthcare utilisation, underscoring healthcare providers' vital role in early detection. This growing prominence underscores the pivotal roles of healthcare providers in the early detection of ASD. Understanding the influence of their factors, Knowledge, Awareness, Experience, Preparedness, and Beliefs impact providers' Willingness for early ASD detection. This study explores these factors comprehensively, contributing to a nuanced understanding and assessing the effect of Beliefs on healthcare providers' Willingness for early ASD detection, examining their influence on Awareness, Knowledge, Experience, and perceived Preparedness. Methodology: In the Al-Mafraq region of Jordan, this study surveyed 202 participants from various healthcare facilities using structural equation modelling (SEM) to analyse the connection between Beliefs and healthcare providers' Awareness, Knowledge, Experience, perceived Preparedness, and Willingness for early ASD detection. Result: Belief moderated the path from Preparedness towards Willingness. This means that the higher the value of Belief, the greater the effect of healthcare providers' Preparedness for early ASD detection. Conclusion: The study uncovers significant associations between healthcare providers' Knowledge, Experience, and perceived Preparedness and their Willingness for early ASD detection. Belief emerges as a pivotal moderator, emphasising its influential role in shaping the connection between Preparedness and Willingness.

Short report: Transition to International Classification of Diseases, 10th Revision and the prevalence of autism in a cohort of healthcare systems.

Currently, the prevalence of autism spectrum disorder (henceforth "autism") is 1 in 36, an increasing trend from previous estimates. In 2015, the United States adopted a new version (International Classification of Diseases, 10th Revision) of the World Health Organization coding system, a standard for classifying medical conditions. Our goal was to examine how the transition to this new coding system impacted autism diagnoses in 10 healthcare systems. We obtained information from electronic medical records and insurance claims data from July 2014 through December 2016 for each healthcare system. We used member enrollment data for 30 consecutive months to observe changes 15 months before and after adoption of the new coding system. Overall, the rates of autism per 1000 enrolled members was increasing for 0- to 5-year-olds before transition to International Classification of Diseases, 10th Revision and did not substantively change after the new coding was in place. There was variation observed in autism diagnoses before and after transition to International Classification of Diseases, 10th Revision for other age groups. The change to the new coding system did not meaningfully affect autism rates at the participating healthcare systems. The increase observed among 0- to 5-year-olds is likely indicative of an ongoing trend related to increases in screening for autism rather than a shift associated with the new coding.

Early Intervention for Children with Autism Spectrum Disorder in Dubai: A Rapid Review and Policy Option Analysis

Background:: Autism Spectrum Disorder (ASD) is a complex and heterogeneous neurodevelopmental disorder that is associated with functional impairments across an individual’s lifespan. The complexity and increasing global prevalence of ASD pose significant strains on healthcare systems. Early Intensive Behavioral Interventions (EIBI) are cost-effective evidence-based interventions that improve outcomes for individuals with ASD, especially when implemented in early childhood. Objectives:: This study reviews the disease burden of ASD and analyzes four potential financing models for EIBI in Dubai. Methods:: A rapid literature review was conducted to synthesize the disease burden of ASD and EIBI services in Dubai. Bardach’s eightfold model for policy analysis was used to analyze four policy options for EIBI in Dubai: (1) Government financing and provision of EIBI through specialized centers, (2) Government financing of EIBI through contracting private providers, (3) Mandating insurance coverage of EIBI for children with ASD, and, lastly, (4) A mixed model that includes both mandating insurance coverage for EIBI and government provision through non-profit organizations. Results:: EIBI services were available in Dubai but were associated with a substantial out-of-pocket (OOP) burden on families. Many young children with ASD were unable to access EIBI. Option (4) of using the mixed financing model of EIBI was optimal in the context of Dubai, based on evaluation criteria, including accessibility, cost-effectiveness, quality, and implementability, with minimal OOP burden on families. Conclusion:: To ease the burden on families with children suffering from ASD, the stakeholders, including the government of Dubai, should consider a mixed financial model to provide EIBI.

Early Prediction of Autistic Spectrum Disorder Using Developmental Surveillance Data

With the continuous increase in the prevalence of autistic spectrum disorder (ASD), effective early screening is crucial for initiating timely interventions and improving outcomes. To develop predictive models for ASD using routinely collected developmental surveillance data and to assess their performance in predicting ASD at different ages and in different clinical scenarios. This retrospective cohort study used nationwide data of developmental assessments conducted between January 1, 2014, and January 17, 2023, with minimal follow-up of 4 years and outcome collection in March 2023. Data were from a national program of approximately 1000 maternal child health clinics that perform routine developmental surveillance of children from birth to 6 years of age, serving 70% of children in Israel. The study included all children who were assessed at the maternal child health clinics (N = 1 187 397). Children were excluded if they were born at a gestational age of 33 weeks or earlier, had no record of gestational age, or were followed up for less than 4 years without an ASD outcome. The data set was partitioned at random into a development set (80% of the children) and a holdout evaluation set (20% of the children), both with the same prevalence of ASD outcome. For each child, demographic and birth-related covariates were extracted, as were per-visit growth measurements, quantified developmental milestone assessments, and referral summary covariates. Only information that was available before the prediction age was used for training and evaluating the models. The main outcome was eligibility for a governmental disabled child allowance due to ASD, according to administrative data of the National Insurance Institute of Israel. The performance of the models that predict the outcome was evaluated and compared with previous work on the Modified Checklist for Autism in Toddlers (M-CHAT). The study included 1 187 397 children (610 588 [51.4%] male). The performance of the ASD prediction models improved with prediction age, with fair accuracy already at 12 months of age. A model that combined longitudinal measures of developmental milestone assessments with a minimal set of demographic variables, which was applied at 18 to 24 months of age, achieved an area under the receiver operating characteristic curve of 0.83, with a sensitivity of 45.1% at a specificity of 95.0%. A model using single-visit assessments achieved an area under the receiver operating characteristic curve of 0.81 and a sensitivity of 41.2% at a specificity of 95.0%. The best performing prediction models surpassed the pooled performance of M-CHAT (sensitivity, 40%; specificity, 95%) reported in studies with a similar design. This cohort study found that ASD can be predicted from routine developmental surveillance data at an accuracy surpassing M-CHAT screening. This tool may be seamlessly integrated in the clinical workflow to improve early identification of children who may benefit from timely interventions.

Large increase in ASD prevalence in Israel between 2017 and 2021.

Accurate estimation of annual changes in autism spectrum disorders (ASD) prevalence is critical for planning the expansion of diagnostic, education, and intervention services at an adequate rate. Previous studies from Israel have reported that ASD prevalence among 8-year-old children has increased from estimates of 0.3% in 2008 to 0.65% in 2015 and 1.3% in 2018. Here, we analyzed data acquired from the National Insurance Institute of Israeli (NII), a governmental organization that approves and monitors all ASD children who receive welfare services in Israel, and Clalit Health Services (CHS), the largest Health Maintenance Organization in Israel that provides health services to ~52% of the population. Data from both sources included annual data files from 2017 to 2021 containing the number of ASD cases per year of birth for 1-17-year-old children. This allowed us to estimate annual ASD prevalence among 3.5 million children born between 2000 and 2020 in Israel. Both data sources revealed a nearly two-fold increase in ASD prevalence among 1-17-year-old children from 2017 to 2021. Estimated prevalence rates differed across age groups with 2-3-year-old (day-care) children increasing from 0.27% to 1.19% (>4 fold change), 4-6-year-old (pre-school) children increasing from 0.8% to 1.83%, and 8-year-old children increasing from 0.82% to 1.56% in NII data. These results demonstrate that autism prevalence continues to increase in Israel with a shift towards diagnosis at earlier ages. These findings highlight the challenge facing health and education service providers in meeting the needs of a rapidly growing autism population.

Early intervention service needs of mothers with a child diagnosed with autism spectrum disorder in Turkey: A qualitative study

BackgroundEarly intervention services play a crucial role in the prevention and management of Autism Spectrum Disorder (ASD). With the increasing prevalence of ASD, understanding the specific needs of mothers and their children is essential for the development of effective interventions and support systems. MethodsThis interview study examines the early intervention service needs of Turkish mothers with children aged 2–6 who have been diagnosed with ASD. Semi-structured in-depth interviews were conducted with nine mothers. Thematic analysis was carried out following the guidance and six steps procedures described by Braun and Clarke. FindingsThe study's findings reveal six distinct themes that encompass the needs expressed by the participating mothers: 1) psychological support needs, 2) social support needs, 3) financial support needs, 4) strengthening the family, 5) government-based enhancement, and 6) the need for social awareness. DiscussionThe findings underscore the significance of comprehensive early intervention services tailored to address the needs of mothers. The stressors associated with the impact of ASD on families are highlighted, aligning with Guralnick's framework. The findings emphasize the need for holistic intervention programs and stress the importance of collaborative relationships among parents, educators, and service providers. Application to practiceThe practical implications of this study benefit healthcare professionals, policymakers, educators, and stakeholders. The emphasis lies in aligning interventions with the ASD needs of both mothers and children, ultimately aiding in the development of effective policies and the enhancement of the quality of care for individuals with ASD in Turkey.

Prevalence and determinants of autism spectrum disorder in children in Saudi Arabia in comparison to developed countries: a systematic review and meta-analysis

This study addressed the prevalence and determinants of autism spectrum disorder (ASD) in children, with an aim to provide a comprehensive overview of global trends in ASD prevalence, considering the challenges posed by methodological variations, diverse definitions of autism, and varying diagnostic criteria among different nations. A systematic literature search yielded 3,457 studies, narrowed down to 1,834 after eliminating duplicates. The screening process, involved a meticulous review of titles, abstracts, and full-text articles, resulted in the exclusion of 870 studies that did not meet the inclusion criteria. Quality assessment identified and removed seven low-quality studies. The final meta-analysis incorporated 25 studies, presenting a diverse snapshot of ASD prevalence in developed countries. The selected studies spanned the years 2015 to 2023, ensuring a contemporary representation. The meta-analysis revealed a global prevalence of ASD in children at 0.51%, with a 95% confidence interval ranging from 0.4% to 1%. Regional variations were observed, with Saudi Arabia exhibiting a prevalence of 1.33%, surpassing the global average. Gender disparity was consistent, with males having a higher representation, reflecting a global trend. Differences in the definition of autism, screening tools, and diagnostic criteria presented challenges in cross-country comparisons, emphasizing the need for standardized approaches in future research. This study contributed valuable insights into the global prevalence of ASD, highlighting regional variations, gender disparities, and methodological challenges. The elevated prevalence in Saudi Arabia underscores the importance of tailored interventions, while the methodological differences emphasize the need for standardization in ASD research.

Korean Clinical Guideline for Autism Spectrum Disorder - Clinical Features, Course, Epidemiology, and Cause.

Autism spectrum disorder (ASD) is a heterogeneous developmental disorder characterized by impairments in two core areas: 1) social communication and interaction and 2) restricted and repetitive patterns of behaviors and interests. In general, ASD is known to be a lifelong disorder. Follow-up studies from childhood to adulthood have reported that the severity of the key symptoms ASD decreases over time. However, chronic health problems including mental health occur in many patients with ASD. The prevalence of ASD has increased from around 0.04% in the 1970s to 2.8% at present. The average age of diagnosis in developed countries is 38-120 months of age. Recent evidence suggests that biological factors which include genetic, congenital, immunological, neuroanatomical, biochemical, and environmental ones are important in causing autism. Until now, early signs and various risk factors of ASD have been suggested.

The role and impact of abnormal vitamin levels in autism spectrum disorders.

The prevalence of autism spectrum disorder (ASD), a neurodevelopmental disorder with a predominance of social behavioral disorders, has increased dramatically in various countries in recent decades. The interplay between genetic and environmental factors is believed to underlie ASD pathogenesis. Recent analyses have shown that abnormal vitamin levels in early life are associated with an increased risk of autism. As essential substances for growth and development, vitamins have been shown to have significant benefits for the nervous and immune systems. However, it is unknown whether certain vitamin types influence the emergence or manifestation of ASD symptoms. Several studies have focused on vitamin levels in children with autism, and neurotypical children have provided different insights into the types of vitamins and their intake. Here, we review the mechanisms and significance of several vitamins (A, B, C, D, E, and K) that are closely associated with the development of ASD in order to prevent, mitigate, and treat ASD. Efforts have been made to discover and develop new indicators for nutritional assessment of children with ASD to play a greater role in the early detection of ASD and therapeutic remission after diagnosis.

The Dangers of Acetaminophen for Neurodevelopment Outweigh Scant Evidence for Long-Term Benefits.

Based on available data that include approximately 20 lines of evidence from studies in laboratory animal models, observations in humans, correlations in time, and pharmacological/toxicological considerations, it has been concluded without reasonable doubt and with no evidence to the contrary that exposure of susceptible babies and children to acetaminophen (paracetamol) induces many, if not most, cases of autism spectrum disorder (ASD). However, the relative number of cases of ASD that might be induced by acetaminophen has not yet been estimated. Here, we examine a variety of evidence, including the acetaminophen-induced reduction of social awareness in adults, the prevalence of ASD through time, and crude estimates of the relative number of ASD cases induced by acetaminophen during various periods of neurodevelopment. We conclude that the very early postpartum period poses the greatest risk for acetaminophen-induced ASD, and that nearly ubiquitous use of acetaminophen during early development could conceivably be responsible for the induction in the vast majority, perhaps 90% or more, of all cases of ASD. Despite over a decade of accumulating evidence that acetaminophen is harmful for neurodevelopment, numerous studies demonstrate that acetaminophen is frequently administered to children in excess of currently approved amounts and under conditions in which it provides no benefit. Further, studies have failed to demonstrate long-term benefits of acetaminophen for the pediatric population, leaving no valid rationale for continued use of the drug in that population given its risks to neurodevelopment.

Mothers' experiences: A missing puzzle piece in caring for children with autism spectrum disorder

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social relationships, communication, and restricted and repetitive behavioral patterns [1]. In recent years, epidemiological studies have shown a rapid increase in the prevalence of ASD. According to the report from the Center for Disease Control and Prevention in the United States, the prevalence was estimated to be 1 in 59 individuals in 2014 and 1 in 54 individuals in 2016 among 8-year-old children [2]. ASD is a complex developmental condition that is accompanied by persistent challenges in social interaction, speech, and nonverbal communication, significantly affecting mother-child interactions [3]. One of the most significant concerns for mothers of these children is how to care for them. The exact cause of this disorder remains largely unknown, and lack of awareness about autism often leads to delayed recognition of the child's difficulties by families [4]. As a result, the golden time for early intervention may be missed, and life in society becomes more challenging for both these children and their caregivers. Additionally, these children require care and support from their families and community institutions from birth throughout their growth and development, making caregiving a stressful process for mothers. Therefore, caring for these children necessitates the adoption of specialized caregiving and parenting approaches [5, 6]. The literature review indicates that the majority of studies conducted in the field of caring for children with autism have primarily been quantitative studies with a traditional intervention approach, focusing on the effectiveness of cognitive-behavioral therapy play therapy, storytelling therapy, supportive counseling, psychotherapy, and teaching coping skills [7-9]. While quantitative research methods have their benefits in many areas, they alone cannot provide a comprehensive examination of the deep dimensions of the phenomenon from the perspective of individuals' first-hand experiences [10].

A novel autism-associated UBLCP1 mutation impacts proteasome regulation/activity

The landscape of autism spectrum disorder (ASD) in Lebanon is unique because of high rates of consanguinity, shared ancestry, and increased remote consanguinity. ASD prevalence in Lebanon is 1 in 68 with a male-to-female ratio of 2:1. This study aims to investigate the impact of an inherited deletion in UBLCP1 (Ubiquitin-Like Domain-Containing CTD Phosphatase 1) on the ubiquitin-proteasome system (UPS) and proteolysis. Whole exome sequencing in a Lebanese family with ASD without pathogenic copy number variations (CNVs) uncovered a deletion in UBLCP1. Functional evaluation of the identified variant is described in fibroblasts from the affected. The deletion in UBLCP1 exon 10 (g.158,710,261CAAAG > C) generates a premature stop codon interrupting the phosphatase domain and is predicted as pathogenic. It is absent from databases of normal variation worldwide and in Lebanon. Wild-type UBLCP1 is widely expressed in mouse brains. The mutation results in decreased UBLCP1 protein expression in patient-derived fibroblasts from the autistic patient compared to controls. The truncated UBLCP1 protein results in increased proteasome activity decreased ubiquitinated protein levels, and downregulation in expression of other proteasome subunits in samples from the affected compared to controls. Inhibition of the proteasome by using MG132 in proband cells reverses alterations in gene expression due to the restoration of protein levels of the common transcription factor, NRF1. Finally, treatment with gentamicin, which promotes premature termination codon read-through, restores UBLCP1 expression and function. Discovery of an ASD-linked mutation in UBLCP1 leading to overactivation of cell proteolysis is reported. This, in turn, leads to dysregulation of proteasome subunit transcript levels as a compensatory response.

Exploring the autism “diagnostic odyssey” in the Greater Accra region of Ghana

Introduction: Despite the increasing global prevalence of autism spectrum disorders (ASD), there is limited information about ASD in Africa. Existing research on ASD in Africa shows that autistic children are diagnosed relatively late or not at all. The purpose of this study was to understand the barriers to an autism diagnosis and to engage key stakeholders to action plan steps to reduce the barriers. Methods: We conducted a participatory, mixed methods study using semi-structured interviews, a survey, photo elicitation, and focus groups with 11 participants (four parents and seven health professionals) in the Greater Accra region of Ghana. Findings: Neuro-paediatricians in our study reported that it takes, on average, two to six visits over two weeks to two years or more to diagnose a child. Our thematic qualitative analysis yielded three overarching themes, with barriers and facilitators for each: 1) Systemic, 2) Community, and 3) Parent/Family factors that influence the diagnostic process. The action plan of our stakeholder focus group prioritizes community education to dispel myths and encourage autism acceptance within the Ghanaian community. Conclusion: Knowledge about the diagnostic odyssey can help facilitate early diagnosis and intervention. Implications for practice This research study confirmed known challenges to the autism diagnostic process. It contributed nuanced insights into the role of culture, the importance of education, and the need for community involvement in improving the diagnostic process, early occupational therapy intervention, and autism acceptance within the community.