This paper offers an in-depth exploration of the complex relationship between seasonality and Autism Spectrum Disorder (ASD). It reviews existing research, providing a comprehensive summary of findings and highlighting the multifaceted dimensions of seasonality as an environmental factor that influences the etiology of ASD. The discussion encompasses various factors, including birth months, maternal health, dietary choices, and vitamin D deficiency, and delves into the intricate interplay of seasonality with environmental influences such as viral infections and solar radiation. The present study raises essential questions regarding the timing of environmental influences and the factors contributing to the rising prevalence of ASD. Ultimately, it underscores the need for future epidemiological research to incorporate more extensive investigations of environmental risk factors and employ advanced statistical analyses. This comprehensive overview contributes to a deeper understanding of how seasonality factors may be linked to the occurrence of ASD and its increasing prevalence, recognizing the multifaceted and diverse nature of these interactions.

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.

The aim of this study was to examine the prevalence of self-reported and parent-reported bullying victimization, perpetration, and victimization-perpetration and the associations of autistic social impairment and attention-deficit/hyperactivity disorder (ADHD) and oppositional defiant disorder (ODD) symptoms with bullying involvement in adolescents with high functioning autism spectrum disorder (ASD). A total of 219 adolescents with high functioning ASD participated in this study. The associations of sociodemographic characteristics, parent-reported autistic social impairment on the Chinese Social Responsiveness Scale, and parent-reported ADHD and ODD symptoms on the Short form of the Swanson, Nolan, and Pelham Version IV Scale (SNAP-IV)-Chinese version with self-reported and parent-reported bullying victimization, perpetration, and victimization-perpetration evaluated using the Chinese version of the School Bullying Experience Questionnaire were examined using logistic regression analysis. The agreement between self-reported and parent-reported bullying involvement was low. Compared with bullying involvement experiences reported by adolescents themselves, parents reported higher rates of pure bullying victimization (23.7% vs. 17.8%) and victimization-perpetration (28.8% vs. 9.1%) but a lower rate of pure bullying perpetration (5.9% vs. 9.1%). Deficit in socio-communication increases the risk of being pure victims and victim-perpetrators. Parent-reported victim-perpetrators had more severe ODD symptoms than did parent-reported pure victims. The agreement between self-reported and parent-reported bullying involvement of adolescents with high functioning ASD was low. Deficit in socio-communication and ODD symptoms were significantly associated with a high risk of bullying involvement in adolescents with high functioning ASD.

Background: Mental capacity is a fundamental aspect that enables patients to fully par-ticipate in various healthcare procedures. To assist healthcare professionals (HCPs) in assessing patients' capacity, especially in the mental health field, several standardized tools have been developed. These tools include the MacArthur Competence Assessment Tool for Treatment (MacCAT-T), the MacArthur Competence Assessment Tool for Clinical Research (MacCAT-CR), and the Competence Assessment Tool for Psychiatric Advance Directives (CAT-PAD). The core dimensions explored by these tools include Understanding, Appreciation, Reasoning, and Expression of a choice. Objective: This meta-analysis aimed to investigate potential differences in deci-sion-making capacity within the healthcare context among groups of patients with bi-polar disorder (BD) and schizophrenia spectrum disorder (SSD). Methods: A systematic search was conducted on Medline/Pubmed, and Scopus. Addi-tionally, Google Scholar was manually inspected, and a manual search of emerging re-views and reference lists of the retrieved papers was performed. Eligible studies were specifically cross-sectional, utilizing standardized assessment tools, and involving pa-tients diagnosed with BD and SSD. Data from the studies were independently extracted and pooled using random-effect models. Hedges g was used as a measure for outcomes. Results: Six studies were identified, with three studies using the MacCAT-CR, two studies the MacCAT-T, and one the CAT-PAD. The participants included 189 individuals with BD and 324 individuals with SSD. The meta-analysis revealed that patients with BD performed slightly better, and the difference was statistically significant, compared to patients with SSD, particularly in the domain of Appreciation (ES=0.23, 95% CI: 0.01 to 0.04, p=0.037). There was no statistically significant difference between the two groups for Understanding (ES=0.09, 95% CI: - 0.10 to 0.27, p=0.352), Reasoning (ES=0.18, 95% CI: - 0.12 to 0.47, p=0.074), and Expression of a choice (ES = 0.23, 95% CI: - 0.01 to 0.48, p=0.60). In the sensitivity analysis, furthermore, when considering only studies involving patients in symptomatic remission, the difference for Appreciation also resulted in non-significant (ES=0.21, 95% CI: -0.04 to 0.46, p=0.102). (ES=0.21, 95% CI: -0.04 to 0.46, p=0.102). Conclusions: These findings indicate that there are no significant differences between patients with BD and SSD during remission phases, while differences are minimal during acute phases. The usefulness of standardized assessment of capacity at any stage of the illness should be considered, both for diagnostic-therapeutic phases and for research and advance directives. Further studies are necessary to understand the reasons for the overlap in capacity between the two diagnostic categories compared in this study.

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.

Music has the innate potential to reach all parts of the brain, stimulates certain brain areas which are not achievable through other modalities. Music Therapy (MT) is being used for more than a century to treat individuals who needs personalized care. MT optimizes motor, speech and language responsibilities of the brain and improves cognitive performance. Pervasive developmentdisorder (PDD) is a multifaceted, neuro developmental disorder and autism spectrum disorder (ASD) comes under PDD, which is defined by deficiencies in three principal spheres: social connection with others, communicative and normal movement skills. The conventional imaging studies illustrate reduced brain area connectivity in people with ASD, involving selected parts of the brain cortex. People with ASD express much interest in musical activities which engages the brain network areas and improves communication and social skills.The main objective of this review is to analyze the potential role of MT in treating the neurological conditions, particularly ASD. Evidence based studies have reported the extensive therapeutic application of music on various part of the brain in a nonverbal child with autism through hearing or making music.Hence we hypothesized that MT intervention can improve the communication capacity in people with ASD, than customary neurorestoration therapy alone.

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.

Limited understanding exists regarding the intricate dynamics between the levels of social inhi-bition exhibited by both wives and husbands concerning their perceived family support and de-pressive symptoms, particularly within couples who are parents of children diagnosed with au-tism spectrum disorder (ASD). This study used the actor-partner, interdependence mediation model to analyze data collected from 397 pairs of Chinese parents with children diagnosed with ASD. The findings of the study revealed significant indirect actor effects, indicating that the levels of social inhibition exhibited by both wives and husbands were associated with their own de-pressive symptoms through their respective perceptions of family support. In general, the study did not find significant partner effects, except for some indirect effect (IE) of wives on their hus-bands' depressive symptoms through the wives' perceived social support. This observation sug-gests that cultural norms and role expectations within the family context may influence these dy-namics. These results underscore the potential importance of interventions aimed at addressing social inhibition and enhancing perceived family support to alleviate depressive symptoms in this population. Additionally, interventions targeting fathers should emphasize the importance of their involvement in parenting and collaboration with their partners in caring for children with ASD. Such collaborative efforts may contribute to improved outcomes for both parents and chil-dren within families affected by ASD.

We propose a theory of ASD as a condition of comorbid cognitive impairments that corrupt the learning, encoding, and manipulation of episodic and semantic memories. We consider (i) episodic and semantic memory functions of the entorhinal-hippocampal complex, (ii) constraints on the transfer and encoding of these memory components into neocortical areas, and (iii) the demands of cognitively manipulating memories in distributed computations being necessary for goal oriented interactions. In ASD, learning and cognitive challenges manifest in diverse ways but especially in high-complexity model predictive control tasks with latent variables. ASD impairments in social interactions represent a prototypical example. Social interactions are at the high end of complexity and require processes (i)–(iii) to work in a concerted fashion due to the need for the learning and estimation of many, sometimes latent, parameters, including emotions, intention, physical and mental capabilities as well as the predictive modeling of these parameters for decision making and timed-action series. We put forth the idea that autism is a result of an arbitrary combination of otherwise not prominent corruptions in processes (i)–(iii). Together, these corruptions may severely impair intelligence and slow down learning, especially in high complexity learning tasks. Over time, slow learning may spare the spontaneous learning-by-doing method - namely, repetitive behavioral patterns, whereas behavioral failures related to complex tasks can restrict interest in such task, thus inducing a fear of novelty; conversely, the fear of novelty restricts interest and can slow learning down. We embed our thoughts into a predictive autoencoding, goal-oriented model of a deterministic world. We compare this model to others, such as the noisy brain model, the Bayesian prior theory, the mirror neuron theory and the weak central coherence theory. We argue that the predictive autoencoder model of the deterministic world harmonizes with these other models and embraces them in a straightforward way.

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.

The high demands of caring for and raising a child with autism spectrum disorder on a daily basis fatally lead parents to the appearance of physical and mental fatigue. This study aimed to assess the effect of social support and spirituality on the fatigue of parents with children with autistic spectrum disorder. A cross-sectional study with a convenience sample was conducted in Schools of Special Education in Attica (Greece). The sample consisted of 123 parents who completed The Fatigue Assessment Scale (FAS), the Multidimensional Scale of Perceived Social Support (MSPSS), and the Functional Assessment of Chronic Illness Therapy Spiritual Well-Being Scale (FACIT Sp-12) to measure the levels of fatigue, social support, and spirituality, respectively. Demographic data were, also, recorded. Data analysis was applied using IBM SPSS 21.0. The mean age was 47.3 years old, 81.3% were women, and 38.9% stated much / very much religious. The mean of total FAS was 28.4 (SD±7.5), of total FACIT Sp-12 was 31.5 (SD±8.7), and of total MSPSS 5.1 (SD±1.1). Higher levels of total MSPSS and FACIT Sp-12 were associated with lower total FAS (r= -0.50, p &lt;0.001 and r= -0.49, p&lt;0.001 respectively). Social support and spirituality are significant predictors of fatigue.

Autism spectrum disorder (ASD) is a neurodevelopmental disease characterized by persistent deficits in social interaction and communication, repetitive movements, abnormal focusing on objects, or activity that can significantly affect the quality of life of the afflicted. Brain neuronal and glial cells have been implicated. It has a genetic component but can also be triggered by environmental factors or drugs. For example, prenatal exposure to valproic acid (VPA) or acetaminophen (APAP) or ingestion of propionic acid (PPA) can increase the risk of ASD. Recently, epigenetic influences on ASD have been brought to the forefront of investigations on the etiology, prevention, and treatment of this disorder. Epigenetics refers to DNA modifications that alter gene expression without making any changes to the DNA sequence. Although an increasing number of pharmaceuticals and environmental chemicals are being implicated in the etiology of ASD, here we specifically focus on the molecular influence of the above-mentioned drugs on epigenetic alterations in neuronal and glial cells and their potential connection to ASD. It is concluded that a better understanding of these phenomena can lead to more effective interventions in ASD.

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition, characterized by persistent deficits in communication/social interaction and restricted and repetitive patterns of behavior, interests or activities. It is usually identified in childhood, despite late diagnoses in cases of greater functionality. Havighurst proposes a set of fundamental tasks throughout the life cycle, whose achievement is probably compromised in the ASD, even though it lacks scientific evidence. This study innovates, as it is based on Havighurst's theoretical model for understanding the development process of three adults and one young person, diagnosed with ASD level I, at different life stages. Through the methodology of life histories, interviews were subject to content analysis. Results pointed out the early detection and interventions importance, minimizing adversities, above all by those who had late diagnoses. Self-perceived success, not expected, was found in some development tasks (e.g. conscience and morality development). Also were noticed expected limitations related to ASD (e.g. difficulties in relationships with peers and in the labor market inclusion). Probably, in cases of greater severity and less functionality/autonomy, there would be greater failure in development tasks. It is crucial to improve research on this developmental model and on the factors that delay the diagnosis, including cases of different levels of severity.

The etiology of autism spectrum disorder (ASD) has not yet been completely elucidated. Through time, multiple attempts have been made to uncover the causes of ASD. Different theories have been proposed, such as that it is caused by “Gods Wrath,” alternations in the gut–brain axis with an emphasis on gut dysbiosis, post vaccine complications, and genetic or even autoimmune causes. In this review we present data covering over 170 000 participants at age ranging from 2 to 14 years focusing on human cell changes rather than using animal models found in previous studies. The male/female ratio was 4:1. Data collection occurred in many countries covering ethnically diversified subjects. Moreover, we aim to show how the progress in genetic techniques influence the explanation found in medical White Papers based on the human genetic samples we have observed from our studies

Autism spectrum disorder (ASD) refers to the diverse range of neurodevelopmental disorders accompanying impairments in social interaction, difficulties in communication, and stereotyped or repetitive behaviors. Unlike the older term, autism, the newer term, ASD, better reflects the broad range of autistic symptoms and denotes a single diagnostic category of autism accompanied by numerous conditions. The pineal hormone melatonin is a well-known neuroprotectant and circadian entrainer. This hormone crosses the placenta and enters the fetal circulation, then conveys photoperiodic information to the fetus during pregnancy. These actions enable normal sleep patterns and circadian rhythms, followed by normal neurodevelopment. Melatonin also reduces oxidative stress, which is harmful to the central nervous system. Therefore, melatonin acts as a neuroprotectant and circadian entrainer, and may reduce the risk of neurodevelopmental disorders such as ASD.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with heterogeneous and complex genetic underpinnings. Our previous microarray gene-expressed profiling identified significantly different neuregulin-2 (NRG2) gene expressions between ASD patients and controls. Thus, we aimed to clarify whether NRG2 is a candidate gene associated with ASD. The study consisted of two stages. First, we used real-time quantitative PCR in 20 ASDs and 20 controls to confirm the microarray gene expression profiling results. The average NRG2 gene expression level in patients with ASD (3.23±2.80) was significantly lower than that of controls (9.27±4.78, p < 0.001). Next, we resequenced all exons of NRG2 in other 349 ASD subjects, who were compared with super-controls from the Taiwan Biobank using case-control association analysis to determine the existence of mutations or single-nucleotide polymorphisms (SNPs). We identified three SNPs, including two noncoding ones, IVS3 + 13A > G (rs889022) and IVS9 + 32T > A (rs182642591), and one insertion/deletion (indel) SNP, named indel GCCCGGC, rs1323957797, in the NRG2 coding region. The genotype and allele frequency distribution of rs1323957797 significantly differed between ASDs and controls (p < 0.0001). Our findings showed significant differences in genotype and allele frequency distribution of the indel SNP, rs1323957797, located in the EGF-like domain region at the C-terminal of the NRG2 precursor protein. Together with our findings, the indel SNP mutation was significantly more common in ASDs than controls, leading to lower NRG2 expression than controls, influencing NRG2 function. Our study’s findings suggest that NRG2 is a susceptibility gene for ASD.

Attention Deficit/Hyperactivity Disorder (ADHD) is a neurodevelopmental disorder that affects attention and behavioral control, characterized by constant presence of inattention and hyperactivity. This article describes a study that used a database with results from tests of voluntary and automatic attentional orientation activity in a complex network of ADHD patients, in order to understand the characteristics of the elements and attentional variability of patients. Centrality metrics and the Louvain method were applied to obtain the network communities. The most important elements of the network were identified and differences in reaction times of the activities were observed in the identified communities. The study provides useful information to understand of deficit hyperactivity disorder spectrum in patients with ADHD.

Autism Spectrum Disorder (ASD), a neurodevelopmental disorder, is increasingly diagnosed and significantly affects communication, behavior, and social interaction. The current diagnostic framework, guided by the DSM-5, has limitations that may lead to clinical gaps due to overlapping symptoms of ASD and other disorders. This study proposes a comprehensive approach to enhance ASD diagnosis through clinical stratification based on comorbidities. We applied precision medicine techniques to identify and categorize ASD into ten clinical profiles. Our findings contribute to a more profound understanding of ASD, including its varied clinical manifestations and comorbidities, and facilitate the development of personalized therapeutic strategies.

Purpose: Pitch plays an important role in auditory perception of music and language. This study provides a systematic review with meta-analysis to investigate whether individuals with autism spectrum disorder (ASD) have enhanced pitch processing ability and identify the potential factors associated with processing differences between ASD and neurotypicals. Method: We conducted a systematic search through six major electronic databases focusing on the studies that used nonspeech stimuli to provide a qualitative and quantitative assessment across existing studies on pitch perception in autism. We identified potential participant- and methodology-related moderators and conducted meta-regression analyses using mixed-effects models. Results: On the basis of 22 studies with a total of 464 participants with ASD, we obtained a small-to-medium positive effect size (0.26) in support of enhanced pitch perception in ASD.Moreover, the mean age and non-verbal IQ of participants were found to significantly moderate the between-studies heterogeneity. Conclusion: Our study provides the first meta-analysis on auditory pitch perception in ASD and demonstrates the existence of different developmental trajectories between individuals with ASD and neurotypicals. Non-verbal ability can be a significant contributor to the lower-level/ local processing bias in ASD. We highlight the need for further investigation of pitch perception in ASD under challenging listening conditions. Future neurophysiological and brain imaging research studies with a longitudinal design are also needed to better understand the nature of the atypical processing in ASD to obtain new insights into the underlying neural mechanisms and to help guide auditory-based interventions for improving language and social functioning.

Contemporary research has found that people with autism spectrum disorder (ASD) exhibit aberrant immunological function, with a shift toward increased cytokine production and unusual cell function. Microglia and astroglia were found to be significantly activated in immuno-cytochemical studies, and cytokine analysis revealed that the macrophage chemoattractant protein-1 (MCP-1), interleukin 6 (IL-6), tumor necrosis factor α (TNF-α), and transforming growth factor β-1 (TGFB-1), all generated in the neuroglia, constituted the most predominant cytokines in the brain. Taurine (2-aminoethanesulfonic acid) is a promising therapeutic molecule able to increase the activity of antioxidant enzymes and ATPase, which may be protective against aluminum-induced neurotoxicity. It can also stimulate neurogenesis, synaptogenesis, and reprogramming of proinflammatory M1 macrophage polarization by decreasing mitophagy (mitochondrial autophagy) and raising the expression of the markers of the anti-inflammatory and pro-healing M2 macrophages, such as macrophage mannose receptor (MMR, CD206) and IL-10, while lowering the expression of the M1 inflammatory factor genes. Taurine also induces autophagy, which is a mechanism that is impaired in microglia cells and is critically associated with the pathophysiology of the ASD. We hypothesize here that taurine could reprogram the metabolism of M1 macrophages that are overstimulated in the nervous system of people suffering from ASD, thereby decreasing the neuroinflammatory process, neuronal death, and improving cognitive functions. Therefore, we think that taurine can serve as an important lead for the development of novel drugs for the ASD treatment.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with high heterogeneity and has a prevalence of 0.7% to 3.2% in children. Gut microbiota are a collection of microorganisms that inhabit in human guts, which can produce various metabolites that affect the homeostasis and functions of nervous and endocrine systems. There are many studies on the relationship between various gut microbiota and ASD, but the alteration pattern of microbial profiles in ASD children is not conclusive. In order to more robustly describe the deregulations of gut microbiota compositions in ASD, a meta-analysis was performed. The related investigations from PubMed, Embase and Web of Science were collected and manually reviewed. By procedure, 26 eligible studies until 2023, with a total of 1021 ASD and 951 typically developed children and adolescents, were included for the meta-analysis. RevMan5.4 was used to assess the overall effect of 8 microbes at the phylum level and 19 microbes at the genus level. Results demonstrated relatively up-regulated abundance of Bacteroidetes, Verrucomicrobia, Bacteroides, Clostridium, Dorea and Sutterella, and down-regulated abundance of Proteobacteria, Bifidobacterium, Coprococcus, and Akkermansia in ASD children, indicating partly agreement in the ASD-associated microbes, albeit the heterogeneity of ASD.

Semantic jokes involve resolving an incongruity emerging from wordplay or from violation of world knowledge. Research has shown individuals with autism spectrum disorder (ASD) demonstrate lower performance on humor tasks involving social situations, but less is known about their semantic joke comprehension. This study examined semantic joke comprehension among adolescents with ASD, and its possible relationship to vocabulary size, theory of mind (ToM), and idiom comprehension. Thirty-two adolescents with ASD and 32 typically developed (TD) peers participated. Semantic joke comprehension was assessed via multiple-choice questionnaire and time-limited computer program. Vocabulary, ToM abilities, and idiom comprehension were also tested. Results revealed that adolescents with ASD were as fast in processing semantic jokes as their age- and vocabulary-matched TD peers but less accurate. Age and idiom comprehension contributed significantly to semantic joke comprehension among both groups. As semantic joke comprehension is based on incongruity resolution, the greater difficulties in comprehension among the adolescents with ASD may be due to deficits in simultaneously retaining two alternative interpretations and selecting the relevant one. Like the TD group, semantic joke comprehension among the ASD group appeared more developed with age. Future neuroimaging studies should test semantic brain region involvement in semantic joke comprehension in ASD.

Abstract: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with extensive genetic and aetiological heterogeneity. While the underlying molecular mechanisms involved remain unclear, significant progress has been facilitated by recent advances in high-throughput transcriptomic, epigenomic and proteomic technologies. Here, we review recently published ASD proteomic data and compare proteomic func-tional enrichment signatures to those of transcriptomic and epigenomic data. We iden-tify canonical pathways that are consistently implicated in ASD molecular data and find an enrichment of pathways involved in mitochondrial metabolism and neurogenesis. We identify a subset of differentially expressed proteins that are supported by ASD tran-scriptomic and DNA methylation data. Furthermore, these differentially expressed proteins are enriched for disease phenotype pathways associated with ASD aetiology. These proteins converge on protein-protein interaction networks that regulate cell pro-liferation and differentiation, metabolism and inflammation which demonstrates a link between canonical pathways, biological processes and the ASD phenotype. This review highlights how proteomics can uncover potential molecular mechanisms to explain a link between mitochondrial dysfunction and neurodevelopmental pathology.

Autism Spectrum Disorder (ASD) is a neuro developmental condition that impacts social interac-tion, communication, and behavior. It is called a spectrum because its symptoms and degrees of severity can vary greatly from one person to the next. Differentiations in brain structure and function have been observed between autistic and typically developing brains. Various aspects of brain function, including information processing, sensory perception, and the capacity to interpret and respond to social cues, may be affected by these differences. The signs and symptoms of ASD are readily apparent to parents in the first few years of their child’s life. The symptoms of ASD, it is said, first appear in early childhood and continue into maturity. Brain MRI analysis utilizing deep learning methods show encouraging findings in the study of ASD. In this study, we look at how well a customized VGG16 architecture compares models that have already been trained. Inception v3, ResNet50, DenseNet121, and MobileNet are used to identify and analyze ASD problems in a brain MRI dataset from people with ASD. The proposed methods have been vali-dated on the unlabeled ABIDE 1 dataset that is freely available to the public. After the unlabeled data has been clustered, five different Deep Learning (DL) methods are used and compared. The results are compared to those of other studies that have already been conducted.

Febrile seizure (FS), which occurs as a response to fever, is the most common seizure that occurs in infants and young children. FS is usually accompanied by diverse neuropsychiatric symptoms including impaired social behaviors; however, no causative link between FS and autism spectrum disorder (ASD) has yet been established. Here, we provide evidence linking FS occurrence with ASD pathogenesis in rats. We developed an FS juvenile rats model and found ASD-like abnormal behaviors including deficits in social novelty, repetitive behaviors, and hyperlocomotion. In addition, FS model juvenile rats showed enhanced levels of gliosis and inflammation in the hippocampal CA2 region and cerebellum. Furthermore, abnormal levels of social and repetitive behaviors persisted in adults FS model rats. These findings suggest that occurrence of FS in infants can cause behavioral endophenotypes of ASD.

There is a long-standing association between exceptional cognitive abilities, of various sorts, and neuropsychiatric illness, but it has historically largely been investigated in an exploratory and non-systematic way. One group in which this association has been investigated with more rigor is in subjects who have been identified as twice exceptional; an educational term describing subjects who are both gifted and diagnosed with a neuropsychiatric disability. This term covers multiple conditions, but is of specific interest in particular in the study of autism spectrum disorder. Recent findings have led to the development of a hypothesis that a certain degree of the neurobiology associated with autism might even be advantageous for individuals and could lead to high giftedness, while becoming disadvantageous, once a certain threshold is surpassed. In this model, the same neurobiological mechanisms confer an increasing advantage up to a certain threshold, but become pathological past that point. Twice-exceptional individuals would be exactly at the inflection point, being highly gifted, but also symptomatic at the same time. Here, we review how existing neuroimaging literature on autism spectrum disorder can inform research on twice exceptionality specifically. We propose to study key neural networks with a robust implication in ASD to identify the neurobiology underlying twice-exceptionality. A better understanding of the neural mechanisms of twice exceptionality should help to better understand resilience and vulnerability to neurodevelopmental disorders and tofurther support affected individuals.

The focus of this article is the evaluation of the quality and the degree of community engagement in an expert-based, public-health communicative intervention for Alcohol Use Disorder (AUD). In 2023 the Canadian Alcohol Use Disorder Society collaborated with a grass-roots community health group, a regional health authority, and an academic participatory researcher to organize a working group to mount a social-marketing campaign to increase community support for AUD medical treatment in family-practice settings in a rural community in British Columbia. The partnership working group conducted a series of activities in the school system, the town council, and the community. This article covers the formative evaluation and the summative evaluation of the working group's effectiveness. The formative evaluation ("lessons learned" and "recommendations") consists of consensus evaluations of the quality of each activity using a variety of data sources. The formative evaluation followed improvement science methods and used consensus meetings to provide and reflect on formal and informal feedback. Formative results reflect the consensus of the participants in the working group and they record the reactions in the community. The summative evaluation measures evidence of community engagement found in transcribed text from meeting minutes. The summative evaluation used theory-based frameworks and text data visualization to assess the engagement dynamics of the working group. The summative evaluation helps to put the formative evaluation into perspective as communicative action. The summative evaluation validates the formative evaluation by revealing the communicative dynamics of engagement which resulted in the community’s increased capacity to understand and support Alcohol Use Disorder Treatment options. The working group and the entire intervention was seen by the participants and the public as a success and capable of replication. In a small community, it instilled new understandings and attitudes, bringing an emerging awareness of medication as an optional health mitigation strategy for Alcohol Use Disorder. Our study furthers this overall assessment by using theoretical constructs and analysis of communicative records to trace engagement characteristics of interest to researchers, societies, and community groups contemplating similar interventions in the future. The study also validates the effectiveness of communicative analysis as a measure of social-marketing for expert-based public health interventions.

This study presents a computational simulation to explore the distinctive patterns of neural connectivity in Autism Spectrum Disorder (ASD), focusing on the concepts of spatial and topological proximities. ASD is characterized by unique cognitive and behavioral profiles, often attributed to atypical neural development and connectivity. Our simulation employs a two-pronged approach: first, by modeling spatial proximity through the generation of clustered 3D node positions, we mimic the observed over-connectivity in localized brain regions in ASD. Second, we construct a topological network to represent the complex interplay of under-connectivity and over-connectivity in functional brain networks, a hallmark of ASD's neural landscape. The spatial model demonstrates pronounced clustering, reflecting the structural brain differences and atypical growth patterns reported in neuroimaging studies of individuals with ASD. In contrast, the topological model reveals a network with a mix of sparse and dense connections, simulating the diverse and often contradictory findings of functional connectivity in ASD, such as reduced long-range connections and increased local connections. Our simulation provides a visual and conceptual framework for understanding the altered neural connectivity in ASD. It underscores the importance of considering both physical (spatial) and functional (topological) aspects of brain connectivity to grasp the full extent of neurodevelopmental deviations in ASD. This approach not only aids in elucidating the neural underpinnings of ASD's core symptoms but also offers a foundation for developing targeted interventions. Future research, integrating more complex and individual-specific data, could further refine this model, enhancing our understanding of ASD's neural dynamics and contributing to personalized therapeutic strategies.

Autism Spectrum Disorder (ASD), a neurodevelopmental disorder characterized by persistent deficits in social interaction and communication manifests in early childhood and is followed by restricted and stereotyped behaviors, interests or activities in adolescence and adulthood (DSM-V). Although genetics and environmental factors have been implicated, the exact causes of ASD have yet to be fully characterized. New evidence suggests that dysbiosis or perturbation in gut microbiota (GM) and exposure to lead (Pb) may play important roles in ASD etiology. Pb is a toxic heavy metal that has been linked to a wide range of negative health outcomes including anemia, encephalopathy, gastroenteric diseases and more importantly cognitive and behavioral problems inherent to ASD. Pb exposure can disrupt GM, which is essential for maintaining overall health. GM, consisting of trillions of microorganisms, has been shown to play a crucial role in the development of various physiological and psychological functions. GM interacts with the brain in a bidirectional manner referred to as “Gut-Brain Axis (GBA).” In this review, following a general overview of ASD and GM, the interaction of Pb with GM in the context of ASD is emphasized. Potential exploitation of this interaction for therapeutic purposes is also touched upon.

Autism Spectrum Disorder (ASD) is a neuro-developmental disorder that limits social interactions, cognitive skills, and abilities. Since ASD can last during an affected person's entire life cycle, the diagnosis at the early onset can yield a significant positive impact. The current medical diagnostic systems (e.g., DSM-5/ICD-10) are somewhat subjective; rely purely on the behavioral observation of symptoms, and hence, some individuals often go misdiagnosed or late-diagnosed. Therefore, researchers have focused on developing data-driven automated diagnosis systems with less screening time, low cost, and improved accuracy while significantly reducing professional intervention. Human Activity Analysis (HAA) is considered one of the most promising niches in computer vision research. This paper aims to analyze its potentialities in the automated detection of autism by tracking the exclusive characteristics of autistic individuals such as repetitive behavior, atypical walking style, and unusual visual saliency. This review provides a detailed inspection of HAA-based autism detection literature published in 2011 on-wards depicting core approaches, challenges, probable solutions, available resources, and scopes of future exploration in this arena. According to our study, deep learning outperforms machine learning in ASD detection with a classification accuracy of 76\% to 95\% on different datasets comprise of video, image, or skeleton data that recorded participants performing a large number of actions. However, machine learning provides satisfactory results on datasets with a small number of action classes and has a range of 60\% to 93\% accuracy among numerous studies. We hope this extensive review will provide a comprehensive guideline for researchers in this field.

Potocki-Lupski Syndrome (PTLS) is a rare condition associated with a duplication of 17p11.2 that may underlie a wide range of congenital abnormalities and heterogeneous behavioral phenotypes. Along with developmental delay and intellectual disability, autism-specific traits are often reported to be the most common among patients with PTLS. To contribute to the discussion of the role of autism spectrum disorder (ASD) in the PTLS phenotype, we present a case of a female adolescent with a de novo dup(17)(p11.2p11.2) without ASD features, focusing on in-depth clinical, behavioral, and electrophysiological (EEG) evaluations. Among EEG features, we found the atypical peak-slow wave patterns and a unique saw-like sharp wave of 13 Hz that was not previously described in any other patient. The power spectral density of the resting state EEG was typical in our patient with only the values of non-linear EEG dynamics: Hjorth complexity and Fractal dimension were drastically attenuated compared with the patient’s neurotypical peers. Here we also summarize results from previously published reports of PTLS that point to the about 21% occurrence of ASD in PTLS that might be biased, taking into account methodological limitations. More consistent among PTLS patients were intellectual disability and speech and language disorders.

Sex/gender (S/G) differences in ASD language profiles have been poorly investigated. The present study aims to explore whether male (M) and female (F) children with ASD and with normal non-verbal cognitive abilities differ in their linguistic profiles. A sample of 76 Italian children with ASD (range: 4.9 – 8 years), including 50 M and 26 F, was retrospectively recruited. Language profiles were analyzed using standardized tests for the evaluation of receptive and expressive vocabulary as well as grammar. Grammatical comprehension was the most impaired domain compared to the other language measures in both M and F children. Comparing language profiles between S/G, F showed significantly better scores than M in grammatical production (p=.002), and M showed better active negative sentences comprehension (p=.035). Moreover, comparing the language profiles between M and F with receptive disorder, F had significantly worse grammatical comprehension and better grammatical production than M. Even among children without receptive disorder, F had significantly higher grammatical production scores. The S/G differences in language profile, particularly better expressive language in F than M, can partially contribute to the delayed ASD diagnosis or underdiagnosis of F without intellectual disability. Finally, our results document the importance of accurately investigating both expressive and receptive abilities in children with ASD.

Purpose: Hearing assistive technology (HAT) has been shown to be a viable solution to the speech-in-noise perception (SPIN) issue in children with autism spectrum disorder (ASD); however, little is known about its efficacy in tonal language speakers. This study compared sentence-level SPIN performance between Chinese children with ASD and neurotypical (NT) children and evaluated HAT use in improving SPIN performance and easing SPIN difficulty. Methods: Children with ASD (n=26) and NT children (n=19) aged 6-12 performed two adaptive tests in steady-state noise and three fixed-level tests in quiet and steady-state noise with and without using HAT. Speech recognition thresholds (SRT) and accuracy rates were assessed using adaptive and fixed-level tests, respectively. Parents or teachers of the ASD group completed a questionnaire regarding children’s listening difficulty under six circumstances before and after a ten-day trial period of HAT use. Results: Although the two groups of children had comparable SRTs, the ASD group showed a significantly lower SPIN accuracy rate than the NT group. Also, a significant impact of noise was found in the ASD group’s accuracy rate, but not in the NT group’s. There was a general improvement in the ASD group’s SPIN performance with HAT and a decrease in their listening difficulty ratings across all conditions after the device trial. Conclusion: The findings indicated inadequate SPIN in the ASD group using a relatively sensitive measure to gauge SPIN performance among children. The markedly increased accuracy rate in noise during HAT-on sessions for the ASD group confirmed the feasibility of HAT for improving SPIN performance in controlled laboratory settings, and the reduced post-use ratings of listening difficulty further confirmed the benefits of HAT use in daily scenarios.

(1) Background: Parents of children with autism spectrum disorders often experience psychological distress, which can affect the quality of childcare they provide. It is crucial to screen for psychiatric symptoms among these parents. The Core Symptom Index (CSI) is a widely used tool for assessing general symptoms such as depression, anxiety, and somatic symptoms, with demonstrated validity and reliability across various populations. However, there is limited research on the validity and reliability of the CSI in the general Chinese population. This study aimed to investigate the psychometric properties of the Chinese version of the CSI among parents of children with autism spectrum disorders using Confirmatory Factor Analysis (CFA). (2) Methods: A total of 794 Chinese parents raising children with autism participated in this study. All completed the CSI, along with the social inhibition subscale of the Interpersonal Problems Inventory and the Couple Satisfaction Index. Factorial validity was assessed using CFA to determine how well the bifactor three-factor model fits the data. Various structural models were compared using model fit indices. Convergent and discriminant validity were examined by exploring correlations with the social inhibition subscale and the Couple Satisfaction Index. Invariance testing of the CSI was conducted across multiple groups based on gender, age, and education using CFA. The reliability of the CSI was evaluated using McDonald’s omega coefficients. (3) Results: The bifactor model emerged as the best-fitting model for the data, suggesting that the total score of the CSI adequately represents overall psychiatric symptoms. The CSI exhibited significant correlations with the social inhibition subscale (r = 0.41, p &lt; 0.01) and smaller correlation coefficients with the Couple Satisfaction Index (r = -0.16, p &lt; 0.05), indicating both convergent and discriminant validity. Invariant tests supported scalar invariance levels based on gender and age but only partial invariance for education. The Chinese version of the CSI demonstrated high consistency, with McDonald's omega coefficients ranging between 0.86 and 0.95. (4) Conclusions: The bifactor model of the Chinese version of the CSI is validated, making it a suitable tool for measuring depression, anxiety, and somatization symptoms among parents of children with autism spectrum disorders. Further research on other Chinese populations is encouraged.

Sleep-disordered breathing is a significant problem affecting the pediatric population. These conditions can affect sleep quality and significantly affect children's overall health and well-being. Difficulties in social interaction, communication, and repetitive behavioral patterns characterize autism spectrum disorder. Sleep disturbances are common in children with ASD. This literature review aims to gather and analyze available studies on the relationship between SDB and children with autism spectrum disorder. We comprehensively searched the literature using major search engines (PubMed, Scopus, and Web of Science). After removing duplicates, we extracted a total of 96 records. We selected 19 studies for inclusion after a thorough title and abstract screening process. A total of 7 articles were ultimately included. This review has analyzed the relationship between autism spectrum disorder and sleep-disordered breathing, particularly Obstructive Sleep Apnea, highlighting an intriguing web of complex associations. Some studies involving children have demonstrated a significant association between autism spectrum disorder and the presence of Obstructive Sleep Apnea. Furthermore, a heightened risk of developing sleep disturbances, including sleep-disordered breathing, has emerged in children with autism. The risk and prevalence of obesity are increasing in pediatric subjects with autism spectrum disorder. Obesity has been identified as a predictive factor for Sleep-disordered breathing, and Body Mass Index can directly correlate with Obstructive Sleep Apnea in these children. Adenotonsillectomy has proven to be pivotal in improving behavioral issues in autism spectrum disorder children with obstructive Sleep Apnea. In conclusion, this review underscores the complexity of the interplay between autism spectrum disorder and sleep-disordered breathing, emphasizing the importance of further research to understand underlying mechanisms and develop optimal therapeutic and preventative approaches to enhance sleep quality and overall health in children with autism spectrum disorder.

Virtual reality (VR) technology gains theoretical support from rehabilitation and pedagogical theories and offers a variety of capabilities in educational and interventional contexts with affordable products. VR is attracting increasing attention in the medical and healthcare industry as it provides fully interactive three-dimensional simulations of real-world settings and social situations, which are particularly suitable for cognitive and performance training including social and interaction skills. The worldwide rising trend in the prevalence of autism spectrum disorder calls for innovative and efficacious techniques for assessment and treatment. The article offers a summary of current perspectives and evidence-based applications of VR technology as an educational and intervention tool for individuals with autism spectrum disorder, with a primary focus on social communication including social functioning, emotion recognition, and speech and language. Technology- and design-related limitations as well as the disputes over the application of virtual reality to autism research and therapy are discussed and future directions of this emerging field are highlighted with regards to application expansion and improvement, technology enhancement, and the development of brain-based research and theoretical models.

Research on wearable solutions for individuals with autism spectrum disorder (ASD) has been conducted to detect stress. However, studies on stress detection for an individual with ASD have been limited, especially on how it should design for individuals with ASD. Wearable solutions may be a tool for parents and caregivers for emotional monitoring for individuals with ASD who have a high risk of experiencing very stressful. However, wearable solutions for individuals with ASD may differ from those without ASD. Individuals with ASD have sensory sensitiveness; therefore, they do not tolerate any accessory type or discomfort to use. We used the Scopus, PubMed, WoS, and IEEE-Xplore databases to answer different research questions related to wearable solutions for individuals with ASD, physiological parameters, and algorithms of artificial intelligence used for stress detection studies found from 2013 to 2023. Our review found 34 articles; not all the studies considered individuals with ASD or were out of the scope.

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.

Neuromyelitis Optica Spectrum Disorder (NMOSD) is a rare immune-mediated relapsing-remitting disease of the central nervous system. The usage of rituximab, to prevent NMOSD relapses, is common in Sweden, but the knowledge on long-term efficacy and risk for severe infections are limited. We performed a retrospective cohort study with medical chart review of rituximab-treated NMOSD patients at the Karolinska University Hospital, Sweden, to assess the occurrence of relapses and severe infectious events (SIE). Furthermore, we collected data on CD19+ lymphocyte, and IgG levels during therapy. A total of 42 NMOSD patients; 24 with aquaporin -4 antibodies (AQP4+), eight with myelin oligodendrocyte glycoprotein antibodies (MOG+) and 10 with absence of antibodies (double-seronegative) were included. During a mean treatment time of 4.4 years, 37% AQP4+, 75% MOG+, and 60% double-seronegative patients experienced 1 relapse. SIEs were common with 46% of AQP4+, 25% of MOG+, and 40% of double-seronegative patients affected. Incomplete CD19+ lymphocyte suppression did not predict a relapse and there was no correlation between IgG levels and SIEs. In conclusion, our data demonstrated a high risk for both relapses and SIEs in rituximab-treated NMOSD patients highlighting the need for close clinical vigilance of disease activity and infections during treatment.

Abstract: Fetal Alcohol Spectrum Disorder (FASD) is considered a lifelong disability that has been framed by neurobiological descriptions focused on the brain. These are important features but fail to tell the story of living with FASD. By surveying those with FASD, this work expands upon prior survey work which illustrated a multitude of early onset physiological issues occurring at rates much higher than typical of the general population. The current project, again using an anonymous survey methodology, seeks to open up other direct experiences to better understand the complexity of living with FASD. An anonymous online survey was used to gather data on advresity in childhood, schooling, employment, housing and finances, involvement with the criminal justice system as well as relationships and parenting. Results inform how supports can be enhanced and targeted with a goal of improving the quality of life. The survey was developed by adults living with FASD who have served as a long-standing advocacy and educational group influencing policy and practice in the field.

Neuromyelitis optica spectrum disorder (NMOSD), previously known as Devic disease or neuromyelitis optica (NMO), represents inflammatory conditions affecting the central nervous system. These disorders are characterized by severe immune-mediated demyelination and axonal damage, with a predilection for targeting optic nerves and the spinal cord. Key clinical features of NMOSD encompass acute episodes of bilateral or rapid sequential optic neuritis and transverse myelitis, typically exhibiting a relapsing course. These attacks endure for several days, and recovery varies, spanning from weeks to months. In this report, we present the case of a 35-year-old individual who initially complained of urinary retention, followed by decreasing vision in the left eye and subsequently in the right eye. These visual symptoms were succeeded by weakness in the right upper and lower limbs.

Children with Autism Spectrum Disorder have deficits in social interaction and expressing and understanding emotions. Many robots for children with ASD have been proposed. However, few studies were found about how to design a social robot for children with ASD. Studies reviewed employed non-experimental studies to evaluate a social robot, but the methodology to design a social robot is rare. This study proposes a design path for a social robot for emotional communi-cation for children with ASD, following User-Centered Design approach. This design path is ap-plied with a study case, evaluated with an expert group on psychologist, human-robot interaction, human-computer interaction, and parents of children with ASD. Results show than following the design path proposed to design a social robot to communication emotions for children ASD is favorable.

Equipped with an early social predisposition immediately post-birth, humans typically form associations with mothers and other family members through exposure learning, canalized by a spontaneous predisposition to biological motion, face configuration, and other cues of animacy. If impaired, reduced social preferences can lead to social interaction impairments such as autism spectrum disorder (ASD) via misguided canalization. Despite being taxonomically distant, domestic chicks also follow a homologous developmental trajectory toward adaptive socialization through imprinting, which is guided via predisposed preferences that are homologous to those of humans, thereby suggesting that chicks are valid animal models of ASD. In addition to the convergent similarities in predisposition with human newborns, accumulating evidence suggests the construct validity of the chick model. Considering the recent progress in the evolutionary neurobiology of vertebrates, we reviewed the advantages and limitations of the chick model of developmental mental diseases in humans.

We investigated if the abnormal sleep-wake rhythms in infants are related to the future development of autism spectrum disorder (ASD), using questionnaire from September to October 2016. The parents of a total 160 children with ASD (male, n=123; female, n=37) recruited from the two hospitals in K and H cities and as a control group, 145 children (male, n=75; female, n=70) recruited from four nursery schools in T city. Fisher’s exact test was used for the comparison of categorical variables. The associations of bedtime and waking time on weekdays and holidays in infancy, at 1-3≦ (1-3) years of age and at 3-5 ≦ (3-5)years of age with the prevalence of ASD were analyzed using a multivariable logistic regression analysis. Especially by 3 years of age, the following factors were associated with an increased risk of developing ASD in the future: 1) short sleep (<8h), 2) long time to fall asleep (>60min), 3) sleep onset time after 22:00h, 4) wake-up time after 07:00h and/or 08:00h on weekdays and holidays, respectively, 5) frequent (>3 times) and long-term awakening (>60min). Misalignment and/or shift of the sleep-wake circadian rhythm in infant may be one of the precursors and/or risk factor to the future development of ASD.

Adult patients with Autism Spectrum Disorder (ASD) exhibit a range of behaviours that can be disruptive to the medical care of themselves and other patients and as a result, are at higher risk of being sedated. The aim of the present study was to determine whether patients with ASD presenting to hospital for acute psychiatric crises re-ceive more sedative medications compared to similar patients without ASD. 43 adult patients with a previous di-agnosis of ASD who were referred to the mental health team at a single, large emergency department in metro-politan Victoria over the year of 2021 were identified and matched with an equal number of controls within the same cohort. Sedative medications were converted to diazepam and chlorpromazine equivalent doses and com-pared using repeated measures T-tests. Patients with ASD received 5.1mg more diazepam-equivalent benzodiaz-epines on average compared to matched controls (95%CI: 0.41-9.71). This difference was statistically significant (T=2.20, df=42, p=0.034). There was no significance difference in chlorpromazine-equivalent antipsychotic doses. Clinicians should be aware of the higher dose of sedatives, and consider other means of behavioural management in these patients.

Equine Assisted Activities (EAA) are considered a suitable innovative rehabilitative practice for children with neurodevelopmental disorders, including Autism Spectrum Disorder (ASD). While standardized scales have been previously used as a tool to evaluate the effects of EAA on different domains of functioning in ASD children, few studies have considered an ethological approach as a means to describe human-horse interactions in the context of ASD. In this study, we aimed to evaluate the behaviour of 19 children with ASD - in comparison with 19 typically developing children (TD) - during EAA sessions. We developed an ethogram from the video-recordings, to assess spatial relationships, social interactions and communicative behaviours displayed by the child towards the horse, as well as the occurrence of problem behaviours. Results indicate that children’s behaviours during EAA sessions are modulated by sex and age, while previous children’s experience with EAA appeared to improve interpersonal distance and horse handling. Results from this study highlight the importance of exploring children's behavioural response during animal-assisted activities through direct measurements. This may allow linking the quality/strength of the child-horse relationship to the benefits obtained by the child, particularly in the social/communicative domain, a core symptom of ASD.

Bone marrow mononuclear cells (BMMNCs) have emerged as a potential therapeutic strategy for various incurable conditions including autism spectrum disorder (ASD). To study its safety and efficacy, we analyzed 1011 patients who underwent intrathecal administration of autologous BMMNCs along with neurorehabilitation. At mean follow-up of 19.3 months after intervention, 90.6% patients showed overall improvement. Improvements were observed in attention concentration, command following, eye contact, sitting tolerance, social interaction, hyperactivity, communication, speech, aggressiveness, stereotypical and self-injurious behavior. Statistically significant changes were observed in scores of Indian Scale of Autism Assessment and Childhood Autism Rating Scale (p<0.05). On subgroup analysis, improvements were recorded irrespective of age and disease severity and better outcome was observed in patients who took multiple doses of cell therapy compared to single dose. Comparative Brain PET-CT scan of 401 patients showed improved brain metabolism after the intervention. No major adverse events were reported. Only 9 out of 1011 patients experienced seizures which were managed using medications. 4 out of 9 had history of seizures while 5 had normal EEG with no history. However, improvements were still observed in these 9 patients. Thus, intrathecal transplantation of autologous BMMNCs along with neurorehabilitation is safe and efficacious in patients with ASD.

Long-acting injectable antipsychotics (LAIs) offer many benefits to patients with schizophrenia spectrum disorder (SSD). They are used with very different frequencies due to questions of eligibility or patients’ and prescribers’ attitudes towards LAI use. We assessed the prescribing rates of LAIs in a large academic psychiatric hospital with public service mandate in Switzerland and compared them with other countries and health care systems. To our knowledge this study is the first to investigate the inpatient LAI-use in Europe. Medical records of all patients diagnosed with SSD discharged from the Clinic of Adult Psychiatry of the University Hospital of Psychiatry Zurich over a 12-month period from January to December 2019 were evaluated regarding the prescribed antipsychotics at the time of discharge. The rates of use of LAIs among all patients and among patients receiving LAI eligible antipsychotic substances were assessed retrospectively. We assessed records of 885 patients with SSD. Among all cases 13.9% received an LAI. Among patients who received antipsychotic medication that was eligible for LAI use 28.3% (n=434) received an agent as LAI. These included paliperidone palmitate (69.9%), aripiprazole monohydrate (14.6%), risperidone (4.9%) and first-generation LAIs (9.8%). Compared to international frequencies of LAI administration, the prescription rate of LAIs in SSD patients was low. Further studies will evaluate patient- and prescriber-related reasons for this low rate.

Mate crime is a specific subset of hate crime in which the perpetrator is known to the victim. To date, there is very little research into the perception and experience of mate crime in autism. The aim of the current study was to examine perceptions of friendship and mate crime in autistic adults, using semi-structured interviews. Five adults were interviewed about their experiences of social interactions, friendships and mate crime. Participants described distancing themselves from the ‘disability’ label whilst growing up to avoid condescension and being perceived as vulnerable, whilst learning to camouflage their social difficulties. Feelings of anxiety were associated with socialising, and participants valued relationships that did not place too many overwhelming demands on their time or energy. Finally, all participants had prior experiences of bullying. They understood the concept of mate crime but were unsure as to whether they would be able to identify it in their own lives if it occurred. However they could identify potential support networks in close friends and family. Results highlight the importance of further research into positive and negative aspects of social relationships in autistic adults, and the need to provide support to those who are socially vulnerable.

Hydroa vacciniforme (HV) is a rare form of photosensitivity disorders in children and is frequently associated with Epstein-Barr virus (EBV) infection, whereas HV-like lymphoproliferative disorders (HVLPD) describe a spectrum of EBV-associated T-cell or NK-cell lymphoproliferations with HV-like cutaneous manifestations, including EBV-positive HV, atypical HV, and HV-like lymphoma. Classic HV occurs in childhood with vesiculopapules on sun-exposed areas, which is usually induced by sunlight and ultraviolet irradiation, and mostly resolves by early adult life. Unlike classic HV, atypical or severe HV manifests itself as recurrent papulovesicular eruptions in sun-exposed and sun-protected areas associated occasionally with facial edema, fever, lymphadenopathy, oculomucosal lesions, gastrointestinal involvement, and hepatosplenomegaly. Notably, atypical or severe HV may progress to EBV-associated systemic T-cell or natural killer (NK)-cell lymphoma after a chronic course. Although rare in the United States and Europe, atypical or severe HV and HV-like lymphoma are predominantly reported in children from Asia and Latin America with high EBV DNA levels, low numbers of NK cells, and T cell clones in the blood. In comparison with the conservative treatment used for patients with classic HV, systemic therapy such as immunomodulatory therapy is recommended as the first-line therapy for patients with atypical or severe HV. This review aims to provide an integrated, overview of current evidence and knowledge of HV and HVLPD to elucidate the pathophysiology, practical issues, environmental factors, and the impact of EBV infection.

Autism spectrum disorder (ASD) is a common condition with lifelong implications. The last decade has seen dramatic improvements in DNA sequencing and related bioinformatics and databases. We analyzed the raw DNA sequencing files on the Variantyx® bioinformatics platform for the last 50 ASD patients evaluated with trio whole genome sequencing (trio-WGS). “Qualified” variants were defined as coding, rare, and evolutionarily conserved. Primary Diagnostic Variants (PDV) additionally were in genes directly linked to ASD and matched clinical correlation. A PDV was identified in 34/50 (68%) of cases, including 25 (50%) cases with heterozygous de novo and 10 (20%) with inherited variants. De novo variants in genes directly associated with ASD were far more likely to be Qualifying than non-Qualifying versus a control group of genes (P=0.0002), validating that most are indeed disease related. Sequence reanalysis increased diagnostic yield from 28% to 68%, mostly by inclusion of de novo PDVs in genes not yet reported as ASD associated. Thirty-three subjects (66%) had treatment recommendation(s) based on DNA analyses. Our results demonstrate high yield of trio-WGS for revealing molecular diagnoses in ASD that is greatly enhanced by re-analyzing DNA sequencing files. In contrast to previous reports, de novo variants dominate the findings, mostly representing novel conditions. This has implications to the cause and rising prevalence of autism.

Autism Spectrum Disorder (ASD) is characterized by varying degrees of difficulty in social interaction and communication. These deficits are often associated with gastrointestinal symptoms, indicating alterations in both intestinal microbiota composition and metabolic activities. The intestinal microbiota influences the function and development of the nervous system. In individuals with ASD, there is an increase in bacterial genera such as Clostridium, as well as species involved in the synthesis of branched-chain amino acids (BCAA) like Prevotella copri. Conversely, decreased amounts of Akkermansia muciniphila, and Bifidobacterium spp. are observed. Epigallocatechin gallate (EGCG) is one of the polyphenols with the greatest beneficial activity on microbial growth and its consumption is associated with reduced psychological distress. Therefore, the objective of this review is to analyze how EGCG and its metabolites can improve the microbial dysbiosis present in ASD and its impact on the pathology. The analysis reveals that EGCG inhibits the growth of pathogenic bacteria like Clostridium perfringens and Clostridium difficile. Moreover, it increases the abundance of Bifidobacterium spp. and Akkermansia spp. As a result, EGCG demonstrates efficacy in increasing the production of metabolites involved in maintaining epithelial integrity and improving brain function. This identifies EGCG as highly promising for complementary treatment in ASD.

Due to the rapid development of unmanned aerial vehicles (UAVs) communication technology, UAVs are gradually competing with primary users (PUs) for spectrum resources. Cognitive radio (CR) is a promising solution to meet the needs. Cooperative spectrum sensing (CSS) is considered as an effective method to detect the PU signal and identify available spectrum resources for UAVs in a cognitive UAV network (CUAVN). However, the cooperative mode among multiple UAVs may incur a high overhead, resulting in performance degradation. Therefore, we introduce a differential sequential 1 (DS1), which incorporates a differential mechanism and leverages the sequential idea based on the classical voting rule to enhance cooperative performance and efficiency. In view of this, we formulate three scenarios to characterize the PU activity and introduce a multi-slot cooperative mode within a single UAV to realize cooperative gain. Further, only the information change about the PU status is sequentially calculated in DS1, and combined with a sequential idea, the efficiency of the voting rule is greatly improved. Moreover, the application of support vector machines (SVM) in dynamic selection enables the selection of the most suitable voting rule based on diverse sensing parameters. This dynamic selection process ensures optimal performance and efficiency by adapting the voting rule to the specific characteristics of the given scenario. Finally, simulation results demonstrate that the superiority of our proposal with respect to the detection performance, sample size and the energy efficiency is evident, which proves the high performance of the proposed policy.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterised by poor social interaction and communication, as well as restricted and stereotyped interests. Due of the high prevalence of gastrointestinal disorders in individuals with ASD, researchers have investigated the gut microbiota as a potential contributor to its aetiology. The relationship between the microbiome, gut, and brain (microbiome-gut-brain axis) has been acknowledged as a key factor in modulating brain function and social behaviour, but its connection to the aetiology of ASD is not well understood. Recently, there has been increasing attention on the relationship between the immune system, gastrointestinal disorders, and neurological issues in ASD, particularly in relation to the loss of specific species or a decrease in microbial diversity. It focuses on how gut microbiota dysbiosis can affect gut permeability, immune function, and microbiota metabolites in ASD. Although a very complete study suggests that dysbiosis is a consequence of the disease and that it has practically no effect on autistic manifestations. This is a review of the relationship between the immune system, microbial diversity, and the microbiome-gut-brain axis in the development of autistic symptoms severity and, a proposal of a novel role of gut microbiome in ASD, where dysbiosis is a consequence of ASD-related behaviour and where dysbiosis in turn accentuates the autistic manifestations of the patients via microbiome-gut-brain axis in a feedback circuit.

To make wind power more competitive, it is necessary to reduce turbine downtime and reduce costs associated with wind turbine Operation and Maintenance (O&amp;M). Incorporating machine learning in developing condition-based predictive maintenance methodologies for wind turbines can enhance their efficiency and reliability. This paper presents a monitoring method that utilizes Base Density for the Support Vector Machine (BDSVM) and the evolutionary Fourier spectra of vibrations. This method allows smart monitoring of the function evolution of the turbine. A complex optimal function (FO) for 5-degree order has been developed that will be the boundary function of the BDSVM to timely determine the magnitude, frequency, and place of the failure occurring in wind turbine drive.

Abstract: The SARS-CoV-2 pandemic has reemphasized the urgent need for broad-spectrum antiviral therapies. We developed a computational workflow using scRNA-Seq data to assess cellular metabolism during viral infection. With this workflow we predicted the capacity of cells to sustain SARS-CoV-2 virion production in patients and found a tissue-wide induction of metabolic pathways that support viral replication. Expanding our analysis to influenza A and dengue viruses, we identified metabolic targets and inhibitors for potential broad-45 spectrum antiviral treatment. These targets were highly enriched for known interaction partners of all analyzed viruses. Indeed, phenformin, an NADH:ubiquinone oxidoreductase inhibitor, suppressed SARS-CoV-2 and dengue virus replication. Atpenin A5, blocking succinate dehydrogenase, inhibited SARS-CoV-2, dengue virus, respiratory syncytial virus, and influenza A with high selectivity indices. In vivo, phenformin showed antiviral activity against SARS-CoV-2 in a Syrian hamster model. Our work establishes host metabolism as druggable for broad-spectrum antiviral strategies, providing invaluable tools for pandemic preparedness.

Fragile X syndrome (FXS) is the most frequent monogenic form of autism spectrum disorder (ASD). Autistic FXS is caused by loss of the fmr1 gene product, the fragile X mental retardation protein (FMRP), triggering physiological and behavioral abnormalities. It is correlated with clock components for behavioral circadian rhythm. Mutation of this gene causes the disturbances in sleep patterns and circadian behavior commonly observed in patients with autistic FXS, accompanied by frequent dysregulation of melatonin synthesis and melatonin-dependent signaling. These changes impair vigilance, learning and memory, and are also linked to autistic behavior including the abnormal anxiety response. However, although several possible causes, symptoms, and clinical features of ASD have been investigated, the correlation between an altered circadian rhythm and autistic FXS has not been extensively studied. Recent works have highlighted the impact of melatonin on the nervous, immune, and metabolic systems. Even though utilization of melatonin for sleep disorder in ASD has been considered in clinical research, further studies should be aimed at its neuroprotective role in ASD during developmental period. In this review, we focus on the regulatory circuits involved in melatonin dysregulation and circadian system disruption in those with autistic FXS. Additionally, we discuss the neuroprotective effect of melatonin intervention. This may improve neuroplasticity and physical capability. We also review the underlying molecular mechanisms, and suggest that melatonin may be a useful novel treatment for autistic FXS, countering the adverse effects of circadian variation.

The relationship between perception of anxiety and quality of life in caregivers of children with autism was verified. To verify quality of life, the Short Form Healthy Survey Item was used; perception of anxiety was assessed using the Beck Anxiety Inventory. 80 caregivers of children with autism participated, with 68.7% of caregivers being mothers. Of the total number of caregivers, 68.8% had a severe level of anxiety. Regarding quality of life, they demonstrated greater impairment in Limitation due to physical aspects, Limitation due to emotional aspects, Vitality and Pain. Caregivers with severe anxiety levels had worse quality of life in the domains of pain (p = 0.012), social aspects (p =&lt; 0.001), limitation due to emotional aspects (p = 0.001) and mental health (p =&lt; 0.001). However, in the functional capacity domain, caregivers with a moderate level of anxiety had a better physical capacity score (p = 0.001). There was a negative correlation between the general anxiety score and the general physical (p = 0.029) and general emotional component of quality of life (p =&lt; 0.001). It was found that caregivers of children with ASD present losses related to psychological factors, quality of life and the lack of social support.

Autism spectrum disorder (ASD) is a common condition with lifelong implications and a strong hereditary component suggesting genetic underpinnings. The last decade has seen dramatic improvements in DNA sequencing and related bioinformatics and databases. We analyzed the raw DNA sequencing files on the Variantyx® bioinformatics platform for the last 50 ASD patients evaluated with trio whole genome sequencing (trio-WGS). “Qualified” variants were defined as coding, rare, and evolutionarily conserved. Primary Diagnostic Variants (PDV) additionally were in genes directly linked to ASD and matched clinical correlation. A PDV was identified in 34/50 (68%) of cases, including 25 (50%) cases with heterozygous de novo and 10 (20%) with inherited variants. De novo variants in genes directly associated with ASD were far more likely to be Qualifying than non-Qualifying versus a control group of genes not associated with ASD (P = 0.0002, odds ratio 29), validating that most are indeed disease related. Only 14/34 (41%) of PDV cases had the variant listed on the laboratory report, and reanalysis increased diagnostic yield from 28% to 68%. Variants that we assigned as PDVs yet not on the report were predominately de novo in genes not yet reported as ASD associated. Many subjects both with and without a PDV had inherited Qualifying variants in known ASD-associated genes, suggesting polygenic inheritance. Thirty-three subjects (66%) had treatment recommendation(s) based on DNA analyses. Our results demonstrate high yield of trio-WGS for revealing molecular diagnoses in ASD that is greatly enhanced by re-analyzing DNA sequencing files. In contrast to previous reports, de novo variants dominate the findings, mostly representing novel conditions. This has implications to the cause and rising prevalence of autism.

Poor social skills in autism spectrum disorder (ASD) are associated with reduced independence in daily life. Current interventions for improving the social skills of individuals with ASD fail to represent the complexity of real-life social settings and situations. Virtual reality (VR) may facilitate social skills training in social environments and situations proximal to real life, however, more research is needed for elucidating aspects such as the acceptability, usability, and user experience of VR systems in ASD. Twenty-five participants with ASD attended a neuropsychological evaluation and three sessions of VR social skills training, incorporating 5 social scenarios with three difficulty levels for each. Participants reported high acceptability, system usability, and user experience. Significant correlations were observed between performance in social scenarios, self-reports, and executive functions. Working memory and planning ability were significant predictors of functionality level in ASD and the VR system’s perceived usability respectively. Yet, performance in social scenarios was the best predictor of usability, acceptability, and functionality level in ASD. Planning ability substantially predicted performance in social scenarios, postulating an implication in social skills. Immersive VR social skills training appears effective in individuals with ASD, yet an error-less approach, which is adaptive to the individual’s needs, should be preferred.

The goal of this paper is to review the relevant literature on autism questionnaires, models, analytic tools, and subgrouping, focusing on the opportunities and limitations. We examined how the size and nature of the database and the number and type of parameters measured determine the use of analytic tools and the expected type of results. To support our position about the examined aspects, we rely on various parts of the reviewed articles. We emphasize that the individual results in each article can only be interpreted in the light of the methods that brought about the conclusions. The reviewed literature suggests a heterogeneous palette in autism subtypes instead of distinct, well-characterized subgroups, or a single-dimensional continuous spectrum.

Artificial Intelligence (AI) is rapidly transforming the field of medicine, announcing a new era of innovation and efficiency. Among AI programs designed for general use ChatGPT holds a prom-inent position using an innovative language model developed by OpenAI. Thanks to the use of deep learning techniques, ChatGPT stands out as an exceptionally viable tool, renowned for gen-erating human-like responses to queries. Various medical specialties, including rheumatology, oncology, psychiatry, internal medicine, and ophthalmology, have been explored for ChatGPT in-tegration, with pilot studies and trials revealing each field's potential benefits and challenges. However, the field of genetics and genetic counseling, as well as that of rare disorders, represents an area suitable for exploration, with its complex data sets and the need for personalized patient care. In this review, we synthesize the wide range of potential applications for ChatGPT in the medical field, highlighting its benefits and limitations. We pay special attention to rare and genetic disorders, aiming to shed light on the future roles of AI-driven chatbots in healthcare. Our goal is to pave the way for a healthcare system that is more knowledgeable, efficient, and centered around patient needs.

Study Objectives: To (1) investigate the prevalence of sleep disorder symptoms in caregivers of children with autism spectrum disorder (ASD) and (2) the relationships between caregiver sleep problems and their health-related quality of life and family quality of life. Methods: Descriptive cross-sectional study of caregivers (N=62) of children ages 6 to 11 years old diagnosed with ASD receiving care at a regional autism research and resource center. Measurements and Results: Participants completed the Sleep Habits Questionnaire (SHQ), the Medical Outcomes Study (MOS) SF-12, and the Beach Center Family Quality of Life Scale (FQOL). Caregivers with longer sleep duration reported better mental health and better family quality of life. Caregivers who reported insomnia symptoms, non-restorative sleep, and insufficient sleep were more likely to report poorer mental health than caregivers who did not report these sleep disorder symptoms. Caregivers with obstructive sleep apnea and restless legs syndrome experienced worse physical quality of life. Conclusions: The physical and mental health of the primary caregiver is essential to the support of the child with ASD and to the functioning of the family. The study findings point to the importance of future research and interventions to enhance sleep health in order to improve quality of life for caregivers of children with ASD.

Urea cycle disorders (UCDs) are common inborn errors of metabolism, with an incidence of one in 30,000 births. They are caused by deficiencies in any of six enzymes and two carrier proteins, the most common being Ornithine Transcarbamylase Deficiency (OTCD). OTCD results in impairment to excrete nitrogen, causing toxic buildup of ammonia with resultant encephalopathy. Hyperammonemia (HA) induces the conversion of glutamate to glutamine in the brain. Excess glutamine in the brain causes osmotic changes cerebral edema, changes in astrocyte morphology, and cell death. Acute symptoms of HA include vomiting, hyperventilation, seizures, and irritability. Long-term neurological changes include deficits in working memory and executive function. To date, there are no predictors of prognosis of infants with neonatal onset OTCD outside of plasma ammonia level at presentation and duration of hyperammonemic coma. We provide a comprehensive analysis of a 16-year-old male with neonatal onset of OTCD as an example of how brain biomarkers may be useful to monitor disease course and outcome. This male presented at 8 days post natal with plasma ammonia and glutamine of 677 and 4024 micromol/L and had a missense mutation in Exon 4 (p.R129H). Treatment included protein restriction, sodium benzoate, and citrulline, arginine, and iron. He suffered recurrent acute hyperammonemic episodes despite compliance, triggered by infections or catabolic stressors. We discuss the long-term effects of the hyperammonemic episodes by following MRI based disease biomarkers.

Considering the spectrum shortage problem of IoT devices, we introduce a collaborative spectrum sensing (CSS) framework in this paper to identify available spectrum resources, so that IoT devices can access it and meanwhile avoid causing harmful interference to the normal communication of the primary user (PU). However, in the process of the PU’s signal detection in IoT devices, the issue about the stopping time and decision cost arises. To this end, we propose a distributed cognitive IoT model, which includes two IoT devices independently using sequential decision rules to detect the PU. On this basis, we define the stopping time and cost function for IoT devices, and formulate an average cost optimization problem in CSS. To solve this problem, we further regard the optimal stopping time problem as a finite horizon problem, and solve the threshold of the optimal decision rule by dynamic programming. At last, numerical simulation results demonstrate the correctness of our proposal in terms of the global false alarm and miss detection probability, and it always achieves minimal average cost under various cost of each observation taken and thresholds.

Introduction: Substance-induced psychotic disorder (SIPD) is a mental health condition linked to the use of a psychotropic substance whose pathogenesis has not been totally clarified. The present retrospective observational study has the objective to identify differences in clinical features and peripheral biomarkers in SIPD patients according to the main substance of abuse.Methods: A total sample of 218 patients was divided in 3 groups according to the type of consumed substance: alcohol, cannabis and psychostimulants. The 3 groups were compared for continuous variables by one-way analyses of variance (ANOVAs) and for qualitative variables by χ² tests. After removing alcohol-induced psychotic disorder group, the same analyses were repeated. Statistically significant variables from these latter analyses were included in a binary logistic regression model to confirm their reliability as predictors for cannabis- or psychostimulants-induced psychotic disorders. Results: Psychotic cannabis abusers were younger (p<0.01) and had an earlier age at onset (p<0.01). On the contrary, alcohol consumers resulted to have a longer duration of illness (p<0.01), more previous hospitalizations (p=0.04), more frequent medical comorbidity (p<0.01), higher mean Modified Sad Person Scale scores (p<0.01). Finally, psychostimulant abusers had more frequently a lifetime history of poly-substance use disorders (p<0.01). Binary logistic regression revealed that higher mean Brief Psychiatric Rating Scale scores (p<0.01) higher sodium (p=0.012) and haemoglobin(p=0.040) plasma levels were predictors of cannabis misuse in SIPD patients.Conclusions: Different clinical factors and biochemical parameters con be associated to SIPD according to the main substance of abuse, thus requiring a specific management by clinicians.

This paper describes some of the challenges that need to be addressed in order to develop collaborative spectrum sharing systems. The importance of these challenges stems from the assumption that rules for spectrum sharing can change after the deployment of radio networks and the whole system must be able to adapt to them. To address such a requirement, we used a policy-based approach in which transmissions are controlled by a policy interpreter system, and the policies can be modified during system operation. Our primary goal was to develop a prototype of such a system. In this paper, we outline the implementation of policy interpretation, automatic generation of transmission opportunities in case a request for transmission is denied by the policy reasoner, and the generation of rendezvous channels for the synchronization of otherwise asynchronously running software defined radios.

Soil organic matter (SOM) is important for the global carbon cycle, and hyperspectral remote sensing has proven a promising method for fast SOM content estimation. However, soil physical properties significantly affect the sensitivity of satellite hyperspectral imaging to SOM, leading to poor generalization ability of the estimation model. This study aims to improve the spatiotemporal transferability of the SOM prediction model by alleviating the coupling effect of soil physical properties on the spectra. Based on satellite hyperspectral images and soil physical variables, including soil moisture (SM), soil surface roughness (root mean squared height, RMSH), and soil bulk weight (SBW), a soil spectral correction strategy was established based on the information unmixing method. Two important grain-producing areas in Northeast China were selected as study areas to verify the performance and transferability of the spectral correction model and SOM content prediction model. The results showed that soil spectral corrections based on fourth-order polynomials and the XG-Boost algorithm had excellent accuracy and generalization ability, with residual predictive deviations (RPD) exceeding 1.4 in almost all bands. In addition, when the soil spectral correction strategy was adopted, the accuracy of the SOM prediction model and the generalization ability after model migration were significantly improved. The SOM prediction accuracy based on the XG-Boost corrected spectrum was the highest, with a coefficient of determination (R2) of 0.76, root mean square error (RMSE) of 5.74 g/kg, and RPD of 1.68. The prediction accuracy, R2, RMSE, and RPD of the model after migration were 0.72, 6.71 g/kg, and 1.53, respectively. Compared with the direct migration prediction of the model, adopting the soil spectral correction strategy based on fourth-order polynomials and XG-Boost reduced the RMSE of the SOM prediction results by 57.90% and 60.27%, respectively. The performance comparison highlighted the advantages of considering soil physical properties in regional-scale SOM prediction.

We bring a strength-based and socially-oriented lens to behaviors observed in profound autism. Social deficits are a defining characteristic of autism. Yet humans’ biological drive for social connection is sufficiently strong that is should be observable, in some form at least, in individuals with autism. We describe a case that validates this view. Mahad is a 20-year-old Pakistani-American male, with intellectual disability, and minimal verbal abilities. Mahad has an intense interest in food and the steps involved in food preparation. He employs and capitalizes on his family’s meal routines to ensure continual social attention from his mother. When not immersed in food, Mahad uses his limited capacities to pursue the additional biological needs of exploring his environment, seeking information, and developing his cognitive abilities.

Intrinsically Disordered Proteins (IDPs) play crucial roles in signal transduction, cell differentiation, and transcriptional regulation. Many disrupted genes associated with mental disorders are identified as IDPs, and emerging evidence suggests the functional role of IDPs in neuropsychiatric disorders. However, few studies comprehensively explore the functional association between protein disorder properties and different mental diseases. To address this gap, we collected disrupted gene sets for seven mental diseases (MDD, SCZ, BP, ID, AD, ADHD, ASD) and a control gene set from normal brains using DisGeNET and GeneCards databases. The state-of-the-art predictor IUPred2A was then utilized to calculate the disorder properties , followed by a thorough comparison between the disordered proteins in mental diseases and healthy controls. Functional enrichment analysis and protein-protein interaction networks were conducted to investigate the IDPs’ functional roles in psychiatric diseases. Additionally, we demonstrated the role of IDPs in protein binding formations through a case study of alpha-synuclein using protein docking. Our findings reveal that differentially expressed proteins in mental disorders, especially in ASD and ADHD, exhibit more IDPs than those in healthy controls. IDPs in psychiatric disorders are significantly enriched in neurodevelopmental pathways and play an important role in in gene expression regulation. Our results indicate distinct functional patterns of disorder proteins among mental diseases and healthy controls. When comparing the IDPs between ASD and ADHD, we observed that IDPs in ADHD are more likely linked to the synaptic signaling and regulation, while IDPs in ASD are more tendentiously related to diverse and complex biological processes. Our work offers valuable insights into the important functions of IDPs in psychiatric disorders, enhancing our understanding of the molecular mechanisms involved in psychiatric disorders.

The article presents the potential of liposomal cannabidiol in the treatment of Panic Disorder, when used in integration with Complex Cognitive Psychotherapy. The advantages of the integrated treatment, developed by the Author, and based on the use of liposomal cannabidiol combined with cognitive psychotherapy, are discussed. A new and original tool is presented and described, developed, and tested for the first time by the Author and called NegEnt Panic Blocker.

To explore the relevant factors that affect the efficacy of consciousness-regaining therapy (CRT)for prolonged disorder of consciousness(pDOC),a retrospective analysis was conducted on the case data of 114 patients with pDOC admitted to department of functional neurosurgery of Tianjin Huanhu Hospital from January 2019 to January 2022. Basic information on the cases,data on pDOC disease assessment, consciousness-regaining therapy methods, and efficacy evaluation were collected. A total of 114 patients were grouped and compared based on the efficacy at the end of treatment. Among them, there were 61 cases in the ineffective group and 53 cases in the effective group. There was no statistically significant difference (P&gt;0.05) between the two groups in terms of gender, age, etiology, acute cerebral herniation, emergency craniotomy surgery, emergency decompressive craniectomy, time from onset to start of consciousness-regaining therapy , and duration of consciousness-regaining therapy(P&gt;0.05). However, there were statistically significant differences (P&lt;0.05) in terms of secondary hydrocephalus, , consciousness-regaining therapy methods, CRS-R grading before treatment, and GOSE score at 6 months after treatment. Binary logistic regression analysis showed that the type of therapy (OR=0.169, 95% CI: 0.057-0.508) was a related factor affecting the efficacy of consciousness-regaining therapy (P&lt;0.05).Compared with non-invasive therapy, personalized awakening therapy using various invasive consciousness-regaining therapy methods can help improve the efficacy of therapy for pDOC.

The article discusses early diagnosis and intervention for developmental delays in children, emphasizing the role of specialized services and personnel in supporting recovery and development. It presents findings from a pilot project initiated in Bucharest, aiming to assess the incidence of developmental delays in children aged 1-3 years in selected kindergartens, including ASD. The study involved children, parents, and specialists, utilizing systematic behavior observation (SBO) and semi-structured interviews. Results indicate that out of 613 evaluated children, 81 received specialized control recommendations, with 4 cases showing potential risk of ASD. Additionally, 8 children were diagnosed with autism. The incidence of autism in children aged 1-3 years was 1 in 51. Although exploratory, these findings suggest a model of good practice for future early diagnosis campaigns nationally. Conclusively, the study underscores the importance of early diagnosis and intervention for developmental delays, advocating for a responsive community and emphasizing the significance of national-level efforts to address these issues effectively.

Psychosis can be defined as a combination of psychopathological symptoms including delusions and/or hallucinations without insight. Psychotic disorders may configure a primary psychiatric illness or represent the result of a functional/structural brain damage induced by substance use, neurological diseases or other medical conditions. They are multifactorial disorders in which genetic, environmental and gene-environment interaction factors contribute to the expressiveness of the symptoms. Among the environmental factors, psychotropic substances represent the most important removable facilitators of psychosis. In our study, we compared the prevalence of substance induced psychosis between a sample of patients affected by cannabis use disorder and a sample of patients affected by cocaine use disorder analyzing retrospectively the data of outpatients with no personal or family history of psychiatric illnesses.

Obsessive–compulsive disorder (OCD) is believed to follow a waxing and waning course, often according to environmental stressors. During the COVID-19 pandemic, pre-existing OCD symptoms were reported to increase and to change from checking to washing behaviors, while new-onset symptoms were predominantly of the hoarding type. In the present study, we followed the evolution of OCD symptoms, anxiety, depression, and insight of illness in forty-six OCD patients throughout the pandemic. Clinical measures were collected at four different time points before and during the COVID-19 pandemic in Italy. Within-subject comparisons were used to compare clinical scale scores across time, and correlations were examined between patients' baseline characteristics and changes in clinical scores. We found that all clinical measures increased during the first Italian lockdown, with respect to the pre-pandemic values. Anxiety decreased during the temporary elimination of restriction provisions, whereas severity of OCD symptoms and insight returned to pre-pandemic values during the second mandatory lockdown. These results were observed only in two sub-groups of patients: those taking benzodiazepines and those with shorter illness duration. Our findings suggest the need of additional clinical attention to these specific sub-groups of OCD patients in case of particularly distressing circumstances, while pointing to a possible adaptive role of their OCD symptoms when the environment requires a higher care of hygiene and extraordinary supply of essential resources.

The influenza virus has been the primary cause of the pandemic, posing a constant threat to human society. Due to its genetic evolution and continuous outbreak, antiviral research currently focuses on exploring a novel lead agent. A comprehensive antiviral screening discovered a marine bacterium whose extract exerted excellent efficacy against influenza viruses. Parerythrobacter sp. M20A3S10, a novel strain under the family Erythrobacteraceae, could produce carotenoids exhibiting antiviral and anticancer activity by enhancing the cellular immune system. Post-treatment of M20A3S10 extract showed outstanding therapeutic indexes: against influenza virus A/PR8 (H1N1) [selectivity index (SI) = 24.0], A/Wisconsin/15/2009 (H3N2) (SI = 30.1) and B/Florida/78/2015 (SI = 38.2). Comparably, the effectiveness was demonstrated against Zika virus (ZIKV) and dengue virus type 2 (DENV2) with an SI of 22.5 and 24.1, respectively, namely broad-spectrum activity. Of note, the antiviral responses resulted from the common replication mechanism between IAV, ZIKV, and DENV2. The stimulation of apoptosis-mediated cellular immunity prevented the viral release and protected the host, suggesting that switching from necroptosis to apoptosis is a novel antiviral target. Although the specific compound affecting the antiviral activity was not identified, its promising efficacy with broad activity will contribute to developing a strategy for preventing future pandemics.

The prevalence of diagnosed cases of autism has increased rapidly, which raise interest in studying the variables related to the well-being of these families. The purpose of this paper is to review recent literature on other variables related to family well-being such a parenting styles. We conducted a systematic review using PRISMA check list and bias assessment ESTROBE with the aim of analyzing if the concepts of autism, well-being and parenting style are related. We screened 753 references, 16 full text articles and abstracts were read. It was identified that authoritative parenting style, 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.

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.

This study explored the electrocortical correlates of conscious and nonconscious perceptions of emotionally laden faces in neurotypical adult women with varying levels of autistic-like traits (Autism Spectrum Quotient - AQ). Event-related potentials (ERPs) were recorded during the viewing of backward-masked images for happy, neutral, and sad faces presented either below (16 ms - subliminal) or above the level of visual conscious awareness (167 ms - supraliminal). Sad compared to happy faces elicited larger frontal-central N1, N2, and occipital P3 waves. We observed larger N1 amplitudes to sad faces than to happy and neutral faces in High-AQ (but not Low-AQ) scorers. Additionally, High-AQ scorers had a relatively larger P3 at the occipital region to sad faces. Regardless of the AQ score, subliminal perceived emotional faces elicited shorter N1, N2, and P3 latencies than supraliminal faces. Happy and sad faces had shorter N170 latency in the supraliminal than subliminal condition. High-AQ participants had a longer N1 latency over the occipital region than Low-AQ ones. In Low-AQ individuals (but not in High-AQ ones), emotional recognition with female faces produced a longer N170 latency than with male faces. N4 latency was shorter to female faces than male faces. These findings are discussed in view of their clinical implications and extension to autism.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impaired social communication and repetitive or stereotypic behaviours. In utero exposure to environmental chemicals, such as polychlorinated biphenyls (PCBs), may play a role in the etiology of ASD. We examined the relation between plasma PCB concentrations measured during pregnancy and autistic behaviours in a subset of children aged 3–4 years old in the Maternal-Infant Research on Environmental Chemicals (MIREC) Study, a pregnancy and birth cohort of 546 mother-infant pairs from Canada (enrolled: 2008-2011). We quantified the concentrations of 6 PCB congeners that were detected in >40% of plasma samples collected during the 1st trimester. At age 3–4 years, caregivers completed the Social Responsiveness Scale-2 (SRS), a valid and reliable measure of children’s reciprocal social and repetitive behaviors and restricted interests. We examined SRS scores as both a continuous and binary outcome, and we calculated Bayesian predictive odds ratios for more autistic behaviours based on a latent variable model for SRS scores >60. We found no association between plasma PCB concentrations and autistic behavior, However, we found small and imprecise increases in the mean SRS score and odds of more autistic behaviour for the highest quartile of plasma PCB concentrations compared with the lowest quartile; for instance, an average increase of 1.1 [95%PCI: −0.5, 2.6] in the mean SRS (exposure contrast 4^th versus 1^st quartile) for PCB138 translated to an odds ratio of 1.6 [95%PCI: 1.0, 2.5]. Our findings illustrate the importance of measuring associations between PCBs and autistic behaviour on both continuous and binary scales.

The evolution of human societal dynamics over the course of decades and centuries has led to an ever-increasingly complex digital modern life, one of the hallmark of which is the need for multi-tasking, inclusive of that with media. Is there an empirical mapping between this macroscopic (digital) evolution of the human societal dynamics (in terms of multi-tasking) and the microscopic evolution of the functional molecular units within cells (i.e., proteins) and their manifold cross-talks? Multi-tasking requires a certain degree of intrinsic or adapted flexibility which is as true at the bio-molecular level. Evolutionary diversification of structure-function relationship in proteins emphasizes the functional importance of intrinsically disordered entities (IDPs/IDRs) which are highly dynamic biological soft matters. Multi-functionality is favorably supported by their fluid-like shapes and other new malleable members of the protein family. The new wealth of knowledge coming from recent research on protein intrinsic disorder, fold-switching, moonlighting, hub proteins etc. has given us new insights into protein structure – functional relationship. This has led to a paradigm shift in protein science, clearly diverging from the traditional 'one structure – one function' model applicable to enzyme classes to a more complex understanding of protein functionality. This paradigm shift has caused scientists to delve deeper into the subject, exploring various evolutionary toys and tools to fit the cumulative multi-functional demands in higher organisms. This commentary covers the different evolutionary arsenals to achieve the growing multi-functionality and argues in favor of protein intrinsic disorder as probably the sharpest weapon of all.

Fetal Alcohol Spectrum Disorders (FASD) represent a continuum of lifelong impairments resulting from prenatal exposure to alcohol, with significant global impact. The “spectrum” of disorders includes a continuum of physical, cognitive, behavioral, and developmental impairments, which can have profound and lasting effects on individuals throughout their lives impacting their health, social interactions, psychological well-being and every aspect of their lives. This narrative paper explores the intricate relationship between oxidative stress and epigenetics in FASD pathogenesis and its therapeutic implications. Oxidative stress, induced by alcohol metabolism, disrupts cellular components, particularly in the vulnerable fetal brain, leading to aberrant development. Furthermore, oxidative stress is implicated in epigenetic changes, including alterations in DNA methylation, histone modifications, and microRNA expression, which influence gene regulation in FASD patients. Moreover, mitochondrial dysfunction and neuroinflammation contribute to epigenetic changes associated with FASD. Understanding these mechanisms holds promise for targeted therapeutic interventions. This includes antioxidant supplementation and lifestyle modifications to mitigate FASD-related impairments. While preclinical studies show promise, further clinical trials are needed to validate these interventions' efficacy in improving clinical outcomes for individuals affected by FASD. This comprehensive understanding of the role of oxidative stress on epigenetics in FASD underscores the importance of multidisciplinary approaches for diagnosis, management, and prevention strategies. Continued research in this field is crucial for advancing our knowledge and developing effective interventions to address this significant public health concern.

Cancer-associated cachexia (CAC) is a debilitating condition marked by muscle and fat loss, unresponsive to nutritional support, and contributes significantly to morbidity and mortality in patients with cancer. Immune dysfunction, driven by cytokine imbalance, contributes to CAC progression. This review explores the potential relationship between CAC and anti-cancer immune response in pre-clinical and clinical studies. Pre-clinical studies showcase the involvement of cytokines like IL-1β, IL-6, IL-8, IFN-γ, TNF-α, and TGF-β, in CAC. IL-6 and TNF-α, interacting with muscle and adipose tissues, induce wasting through JAK/STAT and NF-κB pathways. Myeloid-derived suppressor cells (MDSCs) exacerbate CAC by promoting inflammation. Clinical studies confirm elevated pro-inflammatory cytokines (IL-6, IL-8, TNFα) and immune markers like neutrophil-to-lymphocyte ratio (NLR) in patients with CAC. Thus, immunomodulatory mechanisms involved in CAC may impact the anti-neoplastic immune response. Inhibiting CAC mechanisms could enhance anti-cancer therapies, notably immunotherapy. R-ketorolac, a new immunomodulator, reversed weight loss and increased survival in mice. Combining these agents with immunotherapy may benefit patients with cancer experiencing CAC. Further research is vital to understand the complex interplay between tumor-induced immune dysregulation and CAC during immunotherapy.

The present review aimed to identify through what means neurologic injury can predispose individuals to Post-Traumatic Stress Disorder (PTSD). In recent years, comprehensive studies have helped to clarify which structures in the central nervous system (CNS) that, when damaged, lead to distinct PTSD symptoms–namely dissociative reactions or flashbacks. Our review narrowed its focus to three common neurologic injuries including traumatic brain injury (TBI), subarachnoid hemorrhage (SAH), and stroke. Beyond discussing the potential mechanisms by which neurotrauma may lead to PTSD, we summarized our current understanding of the pathophysiology of the disorder and discussed predicted associations between the limbic system and PTSD. In particular, the role of noradrenergic neuromodulatory signaling on the HPA axis as it pertains to fear memory recall needs to be further explored to better understand its effects on limbic structures in PTSD patients. This paper also described how damage to the CNS can alter the function of the limbic system and result in characteristic symptoms of PTSD like intrusive memories and acute psychological distress. Further, our review intended to draw attention to a lack of PTSD prognosis in TBI, SAH, and stroke patients who could benefit from early treatment. PTSD symptoms often compound with pre-existing issues further deteriorating health outcomes for these patients. It is ultimately our goal to clarify the relationship between neurotrauma and PTSD such that earlier diagnoses and appropriate treatment are observed in clinic.

Background: Clinical trails have revealed that patients with depression generally accompanied with learning and memory impairment, which critically impact on individual’s health and development. Danggui-Shaoyao-San (DSS), a famous Chinese complex prescription, significantly overcame depression and relieved cognitive disorder based on previous research and publication. However, its effectsand potential mechanism against chronic restraint stress (CRS) remained unknown. Methods: CRS animal model was established and mice were divided to six groups while they were oral administrated with Danggui-Shaoyao-San at doses of 1.25, 2.5 and 5 g/kg for 14 days. Emotional and cognitive performances were detected by behavior tests, meanwhile neural plasticity and its molecular mechanism were examined by Dil staining, western blot and immunofluorescence. Results: DSS treatment dose-dependently improved locomotion ability in open filed test, overcame depression behavior in forced swimming test and elevated plus maze test, enhanced learning and memory ability in Morris water maze test. CRS decreased number of total spines and mushroom spines, while DSS treatment dose-dependently restored these by Dil staining. Expression of BDNF and GluR1 were significantly down-regulated in CRS group, which were significantly normalized by DSS. Conclusions: DSS treatment dose-dependently reversed CRS-induced cognitive impairments by inducing structural remodeling of neurons.

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.

Reactive attachment disorder (RAD) and disinhibited social engagement disorder (DSED) manifest in individuals facing attachment system chal-lenges, particularly observed in minors under protective measures. The lack of standardized tools for assessing these difficulties and uncertainty about the most effective instruments from a psychometric perspective prompted this study. Using the COSMIN checklist, we systematically reviewed instruments assessing RAD, adhering to PRISMA and COSMIN guidelines. Examined tools included the Disturbance Attachment Inter-view, Preschool Age Psychiatric Assessment, Relationship Patterns Questionnaire, Assessment of RAD and DSED, Development and Well-Being Assessment, and Reactive Attachment Disorder Question-naire. Of the 11 articles analyzed, results highlight a research emphasis on internal consistency, structural and construct validity, sidelining other properties. While the instruments demonstrate strong structural validity, excellent internal consistency, and generally satisfactory error measurement results, the study concludes a dearth of investigations into psychometric properties for children and adolescents under protective measures.

New research points to a possible link between Autism Spectrum Disorder and the gut microbiota as many autistic children have co-occurring gastrointestinal problems. This review focuses on specific alterations of gut microbiota mostly observed in autistic patients. Particularly, the mechanisms through which such alterations may trigger the production of the bacterial metabolites or leaky gut in autistic people are described. Various altered metabolite levels were observed in autistic children, many of those were of bacterial origin such as short chain fatty acids (SCFAs), indoles and lipopolysaccharides. A less integrative gut-blood-barrier is abundant in autistic individuals. This explains the leakage of bacterial metabolites into the patients triggering new body responses or altered metabolism. Some other co-occurring symptoms such as mitochondrial dysfunction, oxidative stress in the cells, altered tight junctions in the blood brain barrier and structural changes in cortex, hippocampus, amygdala and cerebellum were detected. Moreover, this paper suggests that autism is associated with an unbalanced gut microbiota (dysbiosis). Although the cause-effect relationship between autism and gut microbiota is not yet well established, consumption of specific probiotics may represent a powerful tool to re-establish gut homeostasis and promote gut health. Diagnostic and therapeutic value of new biomarkers leading to the perturbation in the phenylalanine metabolism will be discussed.

Panic disorder (PD) is characterized by recurrent and uncontrollable panic attacks associated with behavioral changes and/or persistent anxiety due to the attacks. The development of behavioral models in animals is important for the understanding of the psychobiological and behavioral bases of PD. The present article reviews the main models used in the current literature. Biobehavioral assays used in rats and mice include fear conditioning (which presents moderate predictive, face, and construct validities); the elevated T-maze (which presents good predictive validity, but low face and construct validities); electrical stimulation of the periaqueductal gray (which presents good face validity, but moderate construct validity); predator exposure models (which present good predictive and moderate construct validity); and hypercapnia-induced responses (which present moderate construct validity). These three approaches seek coherence with theories on fear as a way to increase its translational potential; thus, while the elevated T-maze is supported by the Deakin/Graeff theory, the mouse defense test battery relies on the concept of defensive distance, and periaqueductal gray stimulation is based on the functional neuroanatomy of fear. Moreover, to higher or lower degree the three models are supported by an “etho-experimental” approach, with careful observation of animal behavior as a way of discriminating different defensive strategies that model different aspects of anxiety, fear, and panic. These assays can be used, in conjunction with independent variables that attempt to simulate the vulnerabilities and stressors which lead to panic attacks, to produce true models of PD. Finally, an alternative/complementary model is proposed that uses zebrafish alarm reaction to study this disorder.

1) Background: Bipolar or manic-depressive disorder is a malign mental disease that frequently faces social stigma. Educational and thinking models are needed to increase people’s awareness and understanding of the disorder. The arts have potential to achieve this goal. 2) Methods: This paper builds on the recent use of heavy metal music as a thinking and education model. It emphasizes the artistic component of heavy metal and its potential to characterize the symptomatology during the episodes of (hypo)mania and depression and the recurrence of these episodes. Heavy metal music has diversified into subgenres that become allegorical to both the symptoms of episodes and the recurrence of bipolar cycles. 3) Results: Examples of songs are given that mirror distinct facets of the disorder. 4) Conclusion: Although the links drawn between art (music) and science (psychiatry) are inherently subjective, such connections might be used to trigger a learning process, facilitate judgment and decision-making, and induce affective reactions and memory formation in the listener. The approach may facilitate collaborative efforts and serve healthcare professionals and educators as a communication tool to aid the public’s comprehension of the disease and an associated social paradox: On one hand, bipolar disorder incurs substantial costs to society. On the other hand, it benefits from the creative artistic and scientific endeavors of bipolar individuals from which cultural and political gains may ensue.

Considering the harmful effects of cannabis on individuals with a severe mental disorder and the limited effectiveness of current interventions, this case report showcases the beneficial results of a 10-session Avatar intervention for cannabis use disorder (CUD) on a polysubstance user with a comorbid schizoaffective disorder. Virtual reality allowed the creation of an Avatar representing a person significantly related to the patient’s drug use. Avatar intervention for CUD aims to combine exposure, relational, and cognitive behavioral therapies while practicing real-life situations and learning how to manage negative emotions and cravings. Throughout therapy and later on, Mr. C managed to maintain abstinence from all substances. Also, an improvement in the severity of CUD as well as a greater motivation to change consumption, were observed after therapy. As observed by his mother, his psychiatrist, and himself, the benefits of Avatar intervention for CUD extended to other spheres of his life. The drastic results observed in this patient could be promising as an alternative to the current treatment available for people with a dual diagnosis of cannabis use disorder and psychotic disorder, which generally lack effectiveness. A single-blind randomized control trial comparing the treatment with a classical intervention in a larger sample is currently underway to evaluate whether the results are reproducible on a larger sample.

The concept of “hyperferritinemic syndrome” defines a complex pathophysiological and clinical entity, characterized by a systemic hyperinflammatory state, generally associated with elevated levels of proinflammatory cytokines (hypercytokinemia) and high serum levels of ferritin (hyperferritinemia), traditionally recognized as an iron-binding plasma protein involved in the storage of iron in a biologically available form for different physiological cellular processes. Recent studies have shown that ferritin has other important functions as well, operating both as a proinflammatory mediator and as a immunosupressive agent, its elevated levels in the serum being detected in various conditions associated with inflammatory states, such as infectious diseases, autoimmune and autoinflammatory disorders and, in some cases, in malignancies. Catastrophic antiphospholipid syndrome (cAPS), systemic juvenile idiopathic arthritis (sJIA) and adult-onset Still’s disease (AOSD) and acquired forms of hemophagocytic lymphohistiocytosis (HLH), which includes macrophage activation syndrome (MAS), have been associated with hyperinflammatory states and dramatic elevations of serum ferritin, generating hyperferritinemic syndromes. Severe forms of coronavirus disease-2019 (COVID-19), in which MAS may frequently develop, has also been linked to the development of a hyperferritinemic syndrome. This review offers several insights into the physiological and pathophysiological roles of ferritin in several (hyper-)inflammatory diseases, but also into the causal entities, the underlying pathophysiological mechanisms, clinical manifestations and diagnostic features of somewhat obscure, yet potentially fatal pathological conditions, reunited under the concept of hyperferritinemic syndromes.

Patients with a psychotic disorder frequently report oral health problems, while mental health nurses (MHNs) seem not to be fully aware of these problems and the risk factors. Therefore, this study aims to develop supportive tools for MHNs regarding oral health to increase sensitization among MHNs and to provide MHNs with knowledge to recognize (potential) oral health problems in patients with a psychotic disorder. We used a human-centered design in which the user, MHNs as well as experts by experience, were placed in the centre of the research process. Problems and needs in MHNs working with patients with a psychotic disorder were addressed. To identify key issues of problem as well as the needs in terms of resources, we started with focus groups (n = 9). We analysed the data thematically based on context of patients and MHNs in practice regarding oral health, preferred oral health tools focused on MHN, and intended outcomes of tools. A Multi Criteria Decision Matrix was developed and analysed (n = 9) to identify the most optimal and viable solution based on established criteria and issues that are prevalent in the work of MHNs. Most promising result was the development of a brochure with an awareness screener. The brochure with awareness screener was developed as a low-fidelity prototype for MHNs regarding oral health in patients with a psychotic disorder, based on the latest scientific evidence. After testing it, the feasibility was tested through semi-structured interviews (n=19). MHNs and experts by experience were satisfied with the tool and provided recommendations for adjustments to the content. Significant augmentations to the brochure include a clinical lesson and a toothbrush with toothpaste for patients. We can conclude that a brochure with an awareness screener is feasible for MHNs. Future steps aiming to further refine and optimize care processes for oral health tools in MHNs, should take refining eligibility criteria for psychiatric populations and the language level of the target group of a tool into account.

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.

In this work, we explore the intrinsic disorder status of the three members of the synuclein family of proteins - α-, β-, and γ-synucleins. We also analyzed the peculiarities of the amino acid sequences and modeled 3D structures of the human synuclein family members to find potential effects of pathological mutations. Furthermore, we conducted a comparative sequence-based analysis of the synuclein proteins from various evolutionary distant species and evaluated their levels of intrinsic disorder using a set of commonly used bioinformatics tools. Next, we conducted a detailed functional disorder analysis of the proteins in the interactomes of the human synuclein family members using various web-based disorder analysis and prediction tools, such as RIDAO, D2P2 and FuzDrop. We identify that the interactome of human α-synuclein has relatively higher levels of intrinsic disorder, as compared to the interactomes of human β- and γ- synucleins. These observations highlight the critical importance of intrinsic disorder of human α-synuclein and its interactors in neuronal processes as compared to other proteins of the synuclein family.

Complex interactions between gene variants and environmental risk factors underlie the pathophysiological pathways in major psychiatric disorders. Autism Spectrum Disorder is a psychiatric condition in which susceptible alleles along with epigenetic memories contribute to the mutational landscape of the ailing brain. The present work reviews recent evolutionary, molecular, and epigenetic mechanisms potentially linked to the etiology of autism. First, we present a clinical vignette to describe clusters of maladaptive behaviors frequently diagnosed in autistic patients. Next, we microdissect brain regions pertinent to the nosology of autism as well as cell networks from the bilateral body plan. Lastly, we catalog a number of pathogenic environments associated with disease risk factors. This set of perspectives provides emerging insights into the dynamic interplay between epigenetic and environmental variation in the development of Autism Spectrum Disorders.

Vitamin D status may impact acute affective symptomatology and the severity of symptoms in patients with bipolar disorder (BD). Therefore, this cross-sectional study analyzed 25(OH)D, 24,25(OH)2D, and the vitamin D metabolite ratio (VMR) in BD and correlated the results with clinical affective symptomatology and functionality. The inactive precursor 25(OH)D and its principal catabolite 24,25(OH)2D were measured simultaneously with a validated liquid chromatography tandem mass-spectrometry method in 170 BD outpatients and 138 healthy controls. VMR was calculated as follows: VMR=100*(24,25(OH)2D/25(OH)D). The psychometric assessment enclosed: Beck Depression Inventory-II, Hamilton Depression Rating Scale, Young Mania Rating Scale, Global Assessment of Functioning, and number of suicide attempts. We did not find a significant difference between patients and controls in the concentrations of 25(OH)D and 24,25(OH)2D. Additionally, the VMR was comparable in both groups. The calculations for the clinical parameters showed a negative correlation between the Young Mania Rating Scale and 24,25(OH)2D (r = -.154, p = .040). Based on the small effect size and the predominantly euthymic sample, further exploitation in individuals with manic symptoms would be needed to confirm this association. In addition, long-term clinical markers, and an assessment in different phases of the disease may provide available additional insights.

The explosive emergence of wireless technologies and standards, covering licensed and unlicensed spectrum bands has triggered the appearance of a huge amount of wireless technologies, with many of them coexisting in the same band. Unfortunately, the wireless spectrum is a scarce resource, and the available frequency bands will not scale with the foreseen demand for new capacity. Certain parts of the spectrum, in particular the license-free ISM bands, are overcrowded, while other parts, mostly licensed bands, may be significantly underutilized. As such, there is a need to introduce more advanced techniques to access and share the wireless medium, either to improve the coordination within a given band, or to explore the possibilities of intelligently using unused spectrum in underutilized (licensed) bands. Therefore, in this paper, we present a SDR based framework that can be employed to devise disruptive techniques to optimize the sub-optimal use of radio spectrum that exists today. Additionally, we describe two use cases for the proposed framework.

The spectrum, intensity and overlap of symptoms between FGIDs and other gastrointestinal disorders characterize patients with FIGDs, who are incredibly different in their backgrounds. An additional challenge with regard to the diagnosis and treatment's applicability is the ongoing expansion of the risk factors believed to be connected to these disorders. Many cytokines and inflammatory cells have been found causing the continuous existence of low-inflammation, which is thought to be a basic pathophysiological process. The idea of the gut-brain axis has been created to offer a basic framework for the complex interactions that occur between the nervous system and intestinal functions, including the involvement of the gut bacteria. In this review paper, we intend to promote a hypothesis that FGIDs, should be seen through the perspective of the network of the neuroendocrine, immunological, metabolic and microbiome pathways. Hypothesis arises from an increased understanding of chronic inflammation as a systemic disorder, being omnipresent in chronic health conditions. Better understanding of inflammation role in the pathogenesis of FGIDs can be achieved by clustering markers of inflammation with data indicating symptoms, comorbidities, and psycho-social factors. Finding subclasses among related entities of FGIDs, may reduce patient heterogeneity and help clarify pathophysiology for better treatment.

Schizoaffective disorder and its classification have always been a topic of discrepancy among researchers. The overlapping presentations of schizoaffective disorder, schizophrenia and psychotic bipolar disorder makes it difficult to classify and diagnose. This study is a narrative review of literatures and genetic and epidemiological research evidences, done to determine the similarities and differences between schizoaffective and psychotic bipolar disorder. Beginning from the introduction of schizoaffective disorder as "schizoaffective psychosis" by Kasanin in 1933, various researchers have proposed different views regarding the diagnosis and classifications for schizoaffective disorder. DSM-III considered schizoaffective disorder as a diagnosis of exclusion as it fails to fit the definite diagnostic criteria of schizophrenia, major affective disorders, or schizophreniform disorder. DSM-V updated the criteria of schizoaffective disorder and stated it as a life time illness rather than being an episodic disorder as in DSM-IV and hence is more reliable. However, some studies show that schizoaffective disorder patients are more like schizophrenia than mood disorder. It still remains unclear whether schizoaffective disorder is a heterogenous disease, a form of schizophrenia, a form of mood disorder or a midpoint in the continuation spectrum of schizophrenia and psychotic bipolar disease.