Autistic spectrum disease (ASD) is an increasingly common diagnosis nowadays with a prevalence of 1-2% in most countries. Its complex causality – a combination of genetic, immune, metabolic and environmental factors - is translated into pleiomorphic developmental disorders of various severity, which have in common two main aspects: repetitive, restrictive behaviors, and difficulties in social interaction varying from awkward habits and verbalization to complete lack of interest from the ASD child for the outside world. The wide variety of ASD causes also makes it very difficult to find a common denominator – a disease biomarker and medication – and currently there is no commonly used diagnostic and therapeutic strategy besides clinical evaluation and psychotherapy.It is known that inflammation is present in a majority of ASD children, and blood inflammatory markers, together with metabolic, electrophysiological markers and imagistics are useful for ASD diagnostic validation and treatment; however, they tend to leave out a sizeable proportion of ASD kids who do not have such modifications. Genetic testing – whole exome sequencing or targeted profiling on about 500 ASD-linked genes- may also provide good insight into pathophysiology, however many times its results are more restrictive rather than offering additional therapeutic options.Here we describe a new biomarker for ASD - the neuron-specific enolase (NSE) - which was elevated above the normal clinical range (less than 16.3 ng/mL) in the vast majority of ASD kids tested in our study (40 of 41, or 97.5%). This finding opens up a new direction for diagnostic confirmation, dynamic evaluation and therapeutic intervention for ASD kids.

Cellular therapies have started an important new therapeutic direction for Autistic Spectrum Disease (ASD), and the ample diversity of ASD pathophysiology and the different types of cell therapies need an equally ample effort for studying the applicable ASD causes and the specific benefits of cell therapies via clinical studies.CORDUS Clinical Study is a crossover study in which autologous cord blood was administered intravenously to 56 patients between January 2019 and July 2023, and has compared its efficacy versus an individualized combination of supplements; both treatments were administered in a different sequence to all participants. Treatment efficacy was evaluated pre- and post- treatments by an independent psychotherapist with ATEC, Q-CHAT and a 16-item comparative table score, after interviews with the children’s parents and therapists.Cord blood was beneficial in the group of 3–7-year-old children (n=28; 3 out of 4 children – 78.57% - improved scores), but was much less effective in kids older than 8 years or with body weight of more than 35 kg (n=28; 1 out of 10 children improved scores). Individualized supplements were more efficacious than cord blood in 5 cases out of 28, while in 23 kids cord blood brought more improvement than supplements; 6 kids registered minor or no improvement. Statistically significant improvements were seen after cord blood infusion on areas such as verbalization and social interaction, but not on irritability or aggressive behavior; also ample individual differences were noted. No serious adverse reactions were noted during and after cord blood or supplement administration.

Autism Spectrum Disorders (ASD) are neurodevelopmental disturbances affecting social skills, whose incidence worldwide is dramatically increasing. Together with the rise of ASD prevalence, several immune conditions are following the same trend, including Atopic Dermatitis (AD), with a possible clinical relationship with ASD. To date, their pathogenesis is still unknown, but several studies highlighted the relevance of gene-environment interactions to the onset of both disorders. Among potential contributing factors, microRNAs (miRNAs), small molecules capable of controlling gene expression and targeting mRNA transcripts, might represent one of the major circulating link, unraveling the connections between neurodevelopmental and immune conditions. We conducted a systematic literature review, under the PRISMA guidelines, trying to define the panel of common miRNAs involved in both ASD and AD. The review retrieved articles published until December 13, 2018, in PubMed, ScienceDirect, PsycARTICLES and Google Scholar. We found a handful works dealing with miRNAs in ASD and AD, with the most overlapping dysregulated miRNAs being miR-146 and miR-155. Two possible compounds are abnormally regulated in both ASD and AD subjects, possibly cross-contributing to the interactions between the two disorders, setting the basis to investigate more precisely the possible link between ASD and AD from another, not just clinical, perspective.

The ratio of males to females with ASD is generally quoted as 4:1 though it is believed that there are biases preventing females being diagnosed and that the true ratio is lower. These biases have not been clearly identified or quantified. Starting with a clinical dataset of 1711 children <18 years old four different methods were employed in an inductive study to identify and quantify the biases and calculate the proportion of females missed. A mathematical model was constructed to compare the findings with current published data. The true male to female ratio appears to be 3:4. Eighty per cent of females remain undiagnosed at age 18 which has serious consequences for the mental health of young women.

Limited knowledge is available about the association between autistic spectrum disorder (ASD) and precocious puberty. Our study examined the association between the two medical conditions, and the effect modification by sex and neuropsychiatric comorbidities in a nationwide population. To compare the risk of precocious puberty between ASD and non-ASD cases, we conducted Cox regression analysis, using ASD as exposure and time-to-precocious puberty as outcome. We adjusted for sex, attention-deficit/hyperactivity disorder (ADHD), tics disorder, obsessive–compulsive disorder (OCD), anxiety disorder, intellectual disability, and epilepsy. We performed a moderation analysis to examine the potential moderating effects by sex or comorbidities. Patients with ASD were prone to have precocious puberty, with an adjusted hazard ratio (aHR) of 1.80 (95% CI: 1.61-2.01). For the effect modification, sex, specifically females, moderated the association between ASD and precocious puberty, with relative excess risk due to interaction (RERI) 7.35 (95% CI 4.90-9.80). No significant effect modification was found for any of the comorbidities within the scope of additive effect modification. We found that patients with ASD were prone to precocious puberty, regardless of sex or comorbid neuropsychiatric disorders. Girls with ASD are at particularly higher risk to develop precocious puberty.

This study investigates Autism Spectrum Disorders (ASD) in Greece, focusing on estimating prevalence and identifying regional disparities in children aged 4 to 7 years. Utilizing a quantitative, descriptive, and exploratory methodology, the research employed a structured questionnaire to gather extensive maternal and child health data. The sample consisted of 517 mothers of children diagnosed with ASD from all over Greece contributing to a nuanced understanding of ASD predictors. The study aims to elucidate the role of prenatal factors in the likelihood of an ASD diagnosis and their impact on the subsequent functionality of children with ASD. The study identified significant predictors of lower functionality in children with ASD, including higher maternal age, delayed ASD diagnosis, lower family income, and higher birth order. Prenatal health issues, such as vaginal bleeding and infections, also influenced functional outcomes. Notably, a family history of neurological or psychiatric conditions appeared protective. The regression model demonstrated robust predictive power, underscoring the complexity of genetic, environmental, and socioeconomic factors in ASD development. The findings advocate for early diagnosis and intervention, systematic screening, and addressing socioeconomic disparities to improve functional outcomes. The results support evidence-based service development and policy adjustments to enhance early identification, intervention, and rehabilitation for children with ASD. Establishing standardized case-recording procedures and an ASD register at national and regional levels is recommended for systematic monitoring and resource evaluation.

It appears that up to 80% of females with autistic spectrum disorder (ASD) have not been diagnosed by 18 years of age. This translates to a prevalence of about 5-6%, and if true has serious implications for female mental health. One way of finding the true value is to use Bayes’ Theorem with a comorbid condition as a more easily recognizable flag. An obvious choice is anorexia nervosa (AN), but it transpires that the proportion of women with ASD who develop AN is unknown. This study uses published data in novel ways to provide two methods of estimating a range for this variable, and gives a median value of 8.3% for AN in ASD and with four other methods a median prevalence of 6% for female ASD. The clinical implications for diagnosis and management of ASD and comorbidities are discussed and a solution is provided for the rate of ASD in generalized joint hypermobility.

For the past several decades, abdominal prenatal ultrasonography has been the most significant technology in obstetrics with a long-established application. However, the frequency, exposure time, thermal and cavitation exposure indices, and increased acoustic output of the ultrasonic waves may be harmful to the embryo/fetus and might increase susceptibility to Autism Spectrum Disorder (ASD). The increase in the prevalence of ASD is associated with an affluent ethnicity, high socioeconomic status, and high parental education where prenatal ultrasonography is readily available and affordable. Enhanced biophysical adverse effects may link the analogous increase in prenatal ultrasonography and autism, and prenatal ultrasonography may emerge as a risk factor for autism. Radiography usage provides historical evidence for this fact: the predominant past opinion was that exposure to X-rays during pregnancy caused no significant risk to a fetus. However, the association between X-ray exposure and childhood leukemia was only established 40 years after X-ray use began. This review focuses on excessive PUS usage and ASD development. Public Abstract Advancements in medical technology over the past several decades have made prenatal ultrasound more frequently accessible to expecting mothers during their pregnancy, especially for the affluent. A parallel development in health care is the increase in autism diagnoses (Autism Spectrum Disorder, or ASD) in children of affluent families. There is a general lack of studies of the impact of prenatal ultrasound on fetuses, especially around varying attributes such as frequency, duration of exposure, and thermal and cavitation indices. There is also a historical precedent set, where exposing fetuses to X-rays was not found to be harmful until it was linked to the development of childhood leukemia decades later. This paper seeks to establish a need to further study these attributes of prenatal ultrasound overuse and their possible impact on a developing fetus, with a special focus on the occurrence of Autism.

New information suggests female autistic spectrum disorder (ASD) is much more common than previously thought, with a likely prevalence of 6% and with 80% undiagnosed at the age of 18. ASD then becomes a common comorbidity of female mental illness with nearly one in five women who develop a mental illness being autistic. ASD has heretofore been regarded as a pediatric condition and though now thought to be life long it is still not well recognized by adult health services. Most mental illness first presents in the teens and early twenties. Comorbid ASD is more difficult to diagnose due to diagnostic overshadowing, and ASD comorbidity maks the mental illness more severe and mor difficult to treat. Recognized ASD is readily treatable with an approach sympathetic to neurodiversity. Improving the pathway from adolescence to adulthood by increasing knowledge of autism in adult health services would dramatically improve female mental health at surprisingly little extra cost. It is low hanging fruit in a very fraught area of healthcare. This paper will examine the extent of the problem. It will explore solutions and quantify the gains of appropriate therapy.

Molecular autism research is evolving towards a biopsychosocial framework that is more informed by autistic experiences. In this context, research aims are moving away from correcting external autistic behaviors and towards alleviating internal distress. Autism Spectrum Conditions (ASCs) are associated with high rates of depression, suicidality and other comorbid psychopathologies, but this relationship is poorly understood. Here, we integrate emerging characterizations of internal autistic experiences within a molecular framework to yield insight into the prevalence of psychopathology in ASC. We demonstrate that descriptions of social camouflaging and autistic burnout resonate closely with the accepted definitions for early life stress (ELS) and chronic adolescent stress (CAS). We propose that social camouflaging could be considered a distinct form of CAS that contributes to allostatic overload, culminating in a pathophysiological state that is experienced as autistic burnout. Autistic burnout is thought to contribute to psychopathology via psychological and physiological mechanisms, but these remain largely unexplored by molecular researchers. Building on converging fields in molecular neuroscience, we discuss the substantial evidence implicating mitochondrial dysfunction in ASC to propose a novel role for mitochondrial allostatic load in the relationship between autism and psychopathology. An interplay between mitochondrial, neuroimmune and neuroendocrine signaling is increasingly implicated in stress-related psychopathologies, and these molecular players are also associated with neurodevelopmental, neurophysiological and neurochemical aspects of ASC etiology. Together, this suggests an increased exposure and underlying molecular susceptibility to ELS that increases the risk of psychopathology in ASC. This article describes an integrative framework shaped by autistic experiences that highlights novel avenues for molecular research into mechanisms that directly affect the quality of life and well-being of autistic individuals. Moreover, this framework emphasizes the need for increased access to diagnoses, accommodations, and resources to improve mental health outcomes in autism.

What does the way autistics bypass, learn, and eventually master language tell us about humans’ genetically encoded linguistic ability? In this theoretical review, we argue that autistic non-social acquisition of language, as well as autistic savant abilities, provide a strong argument for an innate, human-specific orientation toward (and mastery of) complex embedded structures. Autistic non-social language learning may represent a widening of the material processed during development beyond oral language. Structure detection and manipulation and generative production of non-linguistic embedded and chained material (savant abilities in calendar calculation, musical composition and interpretation, three-dimensional drawing) may thus represent an application of such innate mechanisms to non-standard materials. Typical language learning through exposure to the child’s mother tongue may represent but one of many possible achievements of the same capacity. The deviation from typical language development in autism may ultimately allow access to oral language, sometimes in its most elaborate forms, but also explains the possibility of the absence of its development when applied exclusively to non-linguistic structured material. Such an extension of human capacities beyond, or in parallel to, their usual limits call into question what we consider to be specific or expected in humans and, therefore, does not necessarily represent a genetic “error”. Regardless of the adaptive success or failure of non-social language learning, it is up to science and ethical principles to strive to maintain autism as a human potentiality to further foster our vision of a plural society.

What does the way autistics bypass, learn, and eventually master language tell us about human linguistic ability? Here, we argue that non-social acquisition of language, in addition to representing a strong argument for nativist models of human language, may be encompassed within the human-specific orientation and mastery of complex embedded structures, of which language represents one realization. Non-social language learning could thus represent the extension of available linguistic, and non-linguistic material processed by human genetic constraints, allowing language acquisition. This deviation from typical developmental language acquisition may ultimately allow access to language, sometimes in its most elaborate forms, and also explains the possibility of the absence of its development when applied to primarily non-linguistic structured material. However, such enlargement of material-specificity does not cast doubts about its human nature. Regardless of the adaptive success or failure of non-social language learning, it is up to science, legal policies, and ethical principles to strive to maintain autism as a human potentiality to further foster our vision of a plural society.

The rising prevalence of autism internationally has been accompanied with an increased appreciation of the poorer mental health experienced by people with this condition and also of their family care-givers. In particular higher incidences of anxiety and depression are reported in high income nations and these conditions are likely to be under-recognised and under-reported in lower resourced regions or countries. Mainstream mental health services seem to be ill-equipped to respond adequately to the needs of autistic persons and their care-givers. This scoping review of 30 recently published literature reviews covering over 1,000 journal articles, summarises the insights and strategies that have been shown to promote the mental health and emotional wellbeing of autistic persons. In particular, a focus on family-centred, community-based supports is needed that aim to enhance social communication, extend social connections and promote an individual’s self-esteem, self-determination and social motivation. These low-cost interventions are especially pertinent in low resourced settings but they can be used internationally to prevent mental illness and assist in the treatment of anxiety and depression in autistic persons and their family carers. The priority is to focus on primary care responses with cross-sectoral working rather than investing in high-cost psychiatric provision.

Background: Gluten and casein-containing foods could aggravate the symptoms of children and adolescents with autism spectrum disorder (ASD), and subsequently impact their quality of life. However, there is a mixed opinion among researchers concerning the impact of alternative diet on reducing ASD symptoms. Objective: This scoping review aimed at examining the impact of the ‘’gluten-free, casein-free’’ (GFCF) diet on health outcomes and the quality of life among autistic children and adolescents. Methods: A scoping review of the literature was performed following the Joanna Briggs Institute (JBI) guidelines. Four databases including EbscoHost, Medline, CINAHL and ProQuest were used to obtain subject-specific studies relevant to the research question and published between July 2013 and March 2024. A comprehensive search using keywords such as “autism spectrum disorder”, “gluten-free diet”, and “casein-free diet” was conducted to obtain articles related to the research focus area. Only full-text, peer-reviewed, written in English articles were selected. Data extraction and data analysis were performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses- extension to Scoping Review (PRISMA-ScR) protocol. Results: From the initial 586 studies a total of 27 articles were included in the final analysis of the review. The thematic analysis included ‘GFCF diet and improvement of the core autistic symptoms’’, “the gut-brain link’’, ‘’dietary interventions and autism’’, ‘’possible side effects due to the GCFC diet’’, and ‘’ inconclusive studies and mixed opinions’’. Majority of the studies showed positive effect of the GFCF diet on a variety of autistic symptoms including positive changes in cognitive skills, behaviour, and gastrointestinal symptoms while some showed conflicting evidence. Conclusion: The currently available evidence on the impact of ‘GFCF’’ diet on the quality of life of autistic children and adolescents may warrant potentially effective interventions for alleviating symptoms of autism spectrum disorders. However, this scoping review highlighted the need for more research to provide more reliable evidence on the health outcomes and quality of life of ASD sufferers to guide practice.

As distinct human societies, three unique intentional communities are investigated regarding their preferred consensus decision-making practices. It is Identified that each has adopted a different form of consensus decision-making to solve potential group-wide interpersonal conflict. The individual attributes of these three consensus decision-making practices are considered, both from the perspective of maintaining group stability and in relation to individual member's mental health. The communities are a Canadian self-directed public senior elementary and secondary school, an annual English conference for those self-identifying as on the autistic spectrum, and a self-producing Korean popular music (K-pop) group. It is found that the intentional community and participants’ mental health are sustained regarding each of the three consensus decision-making practices. Nevertheless, the resulting decisions generate various stresses within the communities, both as a whole and concerning the individual members. To retain group cohesion and maintain individual mental health, these stresses must be recognized and understood by participants. The novel finding of this research is that, dependent on the time available for decision-making, and the members’ perspective adopted, intentional communities might practice more than one form of consensus decision-making and still support both group cohesion and individual mental health, maintaining the democracy of these distinct societies.