scholarly journals Development of the concepts of childhood autism: pathogenetic mechanisms and markers

Author(s):  
O. E. Poluliakh ◽  
T. A. Mityukova ◽  
A. I. Martynenko ◽  
O. V. Zakharevich ◽  
S. A. Marchuk

Today, the study of autism spectrum disorders is relevant due to a high prevalence, an increase in the frequency of occurrence, as well as due to a lack of the unified concept of their etiology and pathogenesis. The purpose of the work is to conduct a brief review of evolution of the childhood autism ideas, including the pathogenesis issues and a search for possible markers of this disease. A brief information on the historical development of the childhood autism ideas, from the pre-Kanner period until now is presented. The modern pathogenesis theories are considered, including heredity, as well as the impact of adverse environmental factors on the child’s body during prenatal development: toxic effects, inflammatory processes and immune disorders in the mother’s body. Modern pathogenesis theories consider such processes as the disruption of synaptic transmission, metabolic disorders of neurotransmitters and neurospecific proteins, the carriage of antibodies to neurotransmitters and neurospecific proteins, the mitochondrial dysfunction, the peroxidation increase, the connection with gastrointestinal tract diseases and altered microflora. The data presented suggest that childhood autism is a multifactorial disease, and a search for markers should then cover a wide range of parameters, including genetic, immunological, biochemical, and possibly microbiological characteristics of the child’s body.

2019 ◽  
Vol 14 (1) ◽  
pp. 40-48
Author(s):  
G. V. Kuzmich ◽  
A. N. Sinelnikova ◽  
K. Yu. Mukhin

Early childhood autism, or autism spectrum disorders, is an extremely heterogeneous group of conditions that share similar symptoms of dysontogenesis. The most significant comorbidity in patients with autism is epilepsy, which is still associated with a variety of controversies. The present article covers the most controversial aspects of comorbidity between autism and epilepsy, including the impact of psychopharmacotherapy on the risk of epilepsy, clinical significance of epileptiform activity on the electroencephalogram in patients without epilepsy, and criteria for and prevalence of autistic epileptiform regression syndrome. We found that there is still a lack of reliable evidence for the majority of issues related to the combination of autism and epilepsy. We emphasize the need for further studies. We also provide a detailed description of the history, criteria, prevalence, and clinical examples of autistic epileptiform regression syndrome.


Author(s):  
Sean C. Anderson ◽  
Andrew M. Edwards ◽  
Madi Yerlanov ◽  
Nicola Mulberry ◽  
Jessica E. Stockdale ◽  
...  

AbstractExtensive physical distancing measures are currently the primary intervention against coronavirus disease 2019 (COVID-19) worldwide. It is therefore urgent to estimate the impact such measures are having. We introduce a Bayesian epidemiological model in which a proportion of individuals are willing and able to participate in distancing measures, with the timing of these measures informed by survey data on attitudes to distancing and COVID-19. We fit our model to reported COVID-19 cases in British Columbia, Canada, using an observation model that accounts for both underestimation and the delay between symptom onset and reporting. We estimate the impact that physical distancing (also known as social distancing) has had on the contact rate and examine the projected impact of relaxing distancing measures. We find that distancing has had a strong impact, consistent with declines in reported cases and in hospitalization and intensive care unit numbers. We estimate that approximately 0.78 (0.66–0.89 90% CI) of contacts have been removed for individuals in British Columbia practising physical distancing and that this fraction is above the threshold of 0.45 at which prevalence is expected to grow. However, relaxing distancing measures beyond this threshold re-starts rapid exponential growth. Because the extent of underestimation is unknown, the data are consistent with a wide range in the prevalence of COVID-19 in the population; changes to testing criteria over time introduce additional uncertainty. Our projections indicate that intermittent distancing measures—if sufficiently strong and robustly followed— could control COVID-19 transmission, but that if distancing measures are relaxed too much, the epidemic curve would grow to high prevalence.


2020 ◽  
Author(s):  
Stephanie S Johnson ◽  
Katelin C Jackson ◽  
Matthew S Mietchen ◽  
Samir Sbai ◽  
Elissa J Schwartz ◽  
...  

Background: One of the consequences of COVID-19 has been the cancelation of in-person collegiate sporting events. We explore the impact of having in-person sports on COVID-19 transmission on a college campus, specifically the excess cases within the campus community can be anticipated. Methods: Using a stochastic compartmental model representing the interactions between the university community, we model the impact of transient influxes of visitors attending sporting events and ancillary activities (bars, dining out, etc.). We consider a number of scenarios, varying the extent to which visitors interact with the campus, the number of infectious visitors, and the extent to which the campus has controlled COVID-19 absent events. We also conducted a sensitivity analysis, exploring the model's outcomes over a wide range of uncertainty. Results: Events caused an increase in the number of cases among the campus community, ranging from a 25% increase in a scenario where the campus already had an uncontrolled COVID-19 outbreak and visitors had a low prevalence of COVID-19 and mixed lightly with the campus community to an 822% increase where the campus had controlled their COVID-19 outbreak and visitors had both a high prevalence of COVID-19 and mixed heavily with the campus community. The model was insensitive to parameter uncertainty, save for the duration a symptomatic individual was infectious. Conclusion: In-person sporting events represent a threat to the health of the campus community. This is the case even in circumstances where COVID-19 seems controlled both on-campus and among the larger population visitors are drawn from.


2021 ◽  
Vol 12 ◽  
Author(s):  
Truong An Bui ◽  
Julie Shatto ◽  
Tania Cuppens ◽  
Arnaud Droit ◽  
François V. Bolduc

Fragile X syndrome (FXS) is the most common single-gene cause of intellectual disability and autism spectrum disorder. Individuals with FXS present with a wide range of severity in multiple phenotypes including cognitive delay, behavioral challenges, sleep issues, epilepsy, and anxiety. These symptoms are also shared by many individuals with other neurodevelopmental disorders (NDDs). Since the discovery of the FXS gene, FMR1, FXS has been the focus of intense preclinical investigation and is placed at the forefront of clinical trials in the field of NDDs. So far, most studies have aimed to translate the rescue of specific phenotypes in animal models, for example, learning, or improving general cognitive or behavioral functioning in individuals with FXS. Trial design, selection of outcome measures, and interpretation of results of recent trials have shown limitations in this type of approach. We propose a new paradigm in which all phenotypes involved in individuals with FXS would be considered and, more importantly, the possible interactions between these phenotypes. This approach would be implemented both at the baseline, meaning when entering a trial or when studying a patient population, and also after the intervention when the study subjects have been exposed to the investigational product. This approach would allow us to further understand potential trade-offs underlying the varying effects of the treatment on different individuals in clinical trials, and to connect the results to individual genetic differences. To better understand the interplay between different phenotypes, we emphasize the need for preclinical studies to investigate various interrelated biological and behavioral outcomes when assessing a specific treatment. In this paper, we present how such a conceptual shift in preclinical design could shed new light on clinical trial results. Future clinical studies should take into account the rich neurodiversity of individuals with FXS specifically and NDDs in general, and incorporate the idea of trade-offs in their designs.


2018 ◽  
Vol 14 (1) ◽  
Author(s):  
Brenda L. Barrio ◽  
Yun-Ju Hsiao ◽  
Nydia Prishker ◽  
Callie Terry

AbstractDespite the increasing number of children from culturally and linguistically diverse (CLD) backgrounds in the United States, limited research exists synthesizing what is known about the prevalence and diagnosis of autism spectrum disorder (ASD) in these communities. Children from culturally and linguistically diverse backgrounds are disproportionately diagnosed with ASD and, there is a need for practitioners and educators to be culturally competent at addressing challenges and practices related to ASD for children and youth. The purpose of this paper is to review the literature related to parental perspectives on ASD, in children from a wide range of culturally diverse backgrounds to provide information and resources to practitioners about the importance to strive for cultural competence in practice-related work.


2020 ◽  
Vol LII (2) ◽  
pp. 46-51
Author(s):  
Laisan M. Мukharyamova ◽  
Janna V. Saveljeva ◽  
Vladimir D. Mendelevich

Aim.Identification of awareness in doctors of different specialties (pediatricians, child psychiatrists, neurologists) on a wide range of issues of diagnosis, etiology, therapy of children with ASD. Methods.There was a survey conducted on the authors questionnaire. It was answered by 400doctors working in the large, medium, and small cities and towns in 35subjects of the Russian Federation, representing all Federal districts. In the sample there were pediatricians (53%), psychiatrists (24.2%), neurologists (14.7%), 8.2% did not specify a specialty. 89.2% of respondents are women and 10.2% are men. Results.70% of doctors believe that the number of children with ASD has increased dramatically in recent years. A fifth of respondents found it difficult to answer, 10% said that the number remained the same. The distribution of responses to the question by the profile of specialists indicates the relationship of variables. Neuropathologists and psychiatrists more often chose the answer option increased sharply (2=32.528, p0.01). The distribution of different specialists opinions on the factors that cause changes in the number of children with ASD in society did not have statistically significant differences. About 40% of pediatricians, neurologists, psychiatrists, and other doctors chose the factors improvement of quality in diagnostic procedures and increasing availability of medical care; about a third noted reducing child mortality and, as a result, increasing diversity, about a quarter chose an environmental impact, changing the rules of medical statistics. It is alarming that when asked about the impact of vaccinations on the occurrence of autism, only 46.9% indicated that this is a myth, about 2.8% indicated that autism is a reaction to vaccination, the majority of respondents (50.3%) chose the option that there is not enough data in medicine to confirm or disprove this position. Conclusions.The results of the study allow us to conclude that it is necessary to increase the awareness of doctors about the current state of research on the problem of ASD. Educational programs are needed taking into account not only medical data but also approaches developed in the social Sciences.


2021 ◽  
Vol 12 ◽  
Author(s):  
Elena Zambrelli ◽  
Althea Lividini ◽  
Sofia Spadavecchia ◽  
Katherine Turner ◽  
Maria Paola Canevini

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition, whose etiology remains poorly understood in most cases. Several genetic, epigenetic and environmental factors have been implicated in ASD pathogenesis and numerous studies have provided evidences for increased levels of oxidative stress and reduced antioxidant capacity in patients with ASD. Recent clinical trials explored supplementation with antioxidant agents as a potential therapeutic strategy for ASD, investigating the impact of this treatment on behavioral symptoms and on most common comorbidities of the disease, including sleep disturbances. Among all medical conditions associated to ASD, sleep problems are highly prevalent and are supposed to be positively related to the severity of the disease. Moreover, studies on animal models support the hypothesis of a relationship between oxidative stress and sleep deprivation. The aim of this review is to summarize the current state of the literature on the effect of antioxidant treatment on sleep disturbances in patients with ASD. Twenty-one articles were included in final synthesis. Of them, 15 studies involved Melatonin, 1 Tryptophan and 5 focused on supplementation with other antioxidant agents (namely Coenzyme Q10, L-Carnosine, Luteolin and Quercetin). Despite the high prevalence of comorbid sleep troubles in ASD, there is a paucity of data on the efficacy of antioxidant agents in those patients. Further research is needed to better define the role of antioxidants agents as adjunctive therapy in the management sleep disorders in children and adolescents affected with ASD.


Insects ◽  
2019 ◽  
Vol 10 (5) ◽  
pp. 135
Author(s):  
Mário Sérgio Ribeiro ◽  
Tania Ayllón ◽  
Viviana Malirat ◽  
Daniel Cardoso Portela Câmara ◽  
Cristina Maria Giordano Dias ◽  
...  

Many RNA viruses have recently emerged, threatening humans and causing harm to animals and plants. Bunyaviruses represent one of the largest groups of RNA viruses and are able to infect a wide range of hosts (invertebrates, vertebrates, and plants). Recently, new insect-specific viruses have been isolated from mosquitoes and phlebotomine sandflies worldwide. Little is known regarding the impact of these viruses on the vector life cycles and the stages of oviposition, breeding, blood feeding, and the mosquito’s lifespan. This study describes, for the first time in South America, the detection and characterization of a recently discovered bunyavirus corresponding to the Wutai mosquito phasivirus, confirming its high prevalence in the Culex spp. and Aedes spp. mosquitoes collected in the urban environment of Rio de Janeiro city, Brazil. The knowledge of the mosquito’s insect-specific virus infection can improve virus evolution studies and may contribute to the understanding of intrinsic factors that influence vector competence to transmit pathogenic viruses.


2020 ◽  
Vol 91 (8) ◽  
pp. 651-661
Author(s):  
Joshua T. Davis ◽  
Hilary A. Uyhelji

INTRODUCTION: Although the impact of microorganisms on their hosts has been investigated for decades, recent technological advances have permitted high-throughput studies of the collective microbial genomes colonizing a host or habitat, also known as the microbiome. This literature review presents an overview of microbiome research, with an emphasis on topics that have the potential for future applications to aviation safety. In humans, research is beginning to suggest relationships of the microbiome with physical disorders, including type 1 and type 2 diabetes mellitus, cardiovascular disease, and respiratory disease. The microbiome also has been associated with psychological health, including depression, anxiety, and the social complications that arise in autism spectrum disorders. Pharmaceuticals can alter microbiome diversity, and may lead to unintended consequences both short and long-term. As research strengthens understanding of the connections between the microbiota and human health, several potential applications for aerospace medicine and aviation safety emerge. For example, information derived from tests of the microbiota has potential future relevance for medical certification of pilots, accident investigation, and evaluation of fitness for duty in aerospace operations. Moreover, air travel may impact the microbiome of passengers and crew, including potential impacts on the spread of disease nationally and internationally. Construction, maintenance, and cleaning regimens that consider the potential for microbial colonization in airports and cabin environments may promote the health of travelers. Altogether, the mounting knowledge of microbiome effects on health presents several opportunities for future research into how and whether microbiome-based insights could be used to improve aviation safety.Davis JT, Uyhelji HA. Aviation and the microbiome. Aerosp Med Hum Perform. 2020; 91(8):651–661.


Author(s):  
Sloane Speakman

In examining the strikingly high prevalence rates of HIV in many parts of Africa, reaching as high as 5% in some areas, how does the discourse promoted by the predominant religions across the continent, Islam and Christianity, affect the outlook of their followers on the epidemic? This question becomes even more intriguing after discovering the dramatic difference in rate of HIV prevalence between Muslims and Christians in Africa, confirmed by studies that have found a negative relationship to exist between HIV prevalence and being Muslim in Africa, even in Sub-Saharan African nations. Why does this gap in prevalence rates exist? Does Islam advocate participating in less risky behavior more so than Christianity? By comparing the social construction, epidemiological understanding and public responses among Muslim populations in Africa with Christian ones, it becomes apparent that many similarities exist between the two regarding discourse and that, rather than religious discourse itself, other social factors, such as circumcision practices, contribute more to the disparity in HIV prevalence than originally thought.


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