Communication Deficits Research Articles

“It was simply disturbing“ - evaluation of the stress factors of nursing staff on special COVID-19 wards during the pandemic: a qualitative study

Abstract Background The COVID-19 pandemic has posed enormous challenges for healthcare systems worldwide. The strain on nursing staff working in special COVID-19 wards during the pandemic increased dramatically. To support nursing staff more effectively in similar situations in the future, it is important to identify specific stress factors to design effective support measures. Objective To collect the experiences and lessons learned from nursing staff who have been affected by COVID-19 pandemic on a special COVID-19 ward that were perceived as stressful. The findings should contribute to the development of specific support measures for healthcare professionals. Design Qualitative interview study. Setting We interviewed 14 members of nursing staff who worked on COVID-19 wards at two University Hospitals about their working experiences during the pandemic. Results We were able to identify 10 key stress factors. These included an increased workload, communication deficits, a difficult personnel situation, subjective pressure, the establishment of a new ward, a shortage of material resources, inadequate hygiene conditions, a lack of opportunities to cope with the situation, the absence of relatives and decision making. Conclusion The identification of various stress factors highlights the urgent need for comprehensive support measures. These measures could include concepts for dealing with physical and psychosocial stress, the provision of resources and sufficient personnel support. It remains crucial to proactively take preventive and supportive measures to reduce the burden and moral distress of nursing staff and protect their health in the long term. Despite the pandemic, the implications of our findings remain relevant for the future.

Tetrahydrobiopterin and Autism Spectrum Disorder: A Systematic Review of a Promising Therapeutic Pathway

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by persistent deficits in social communication and interaction, along with restricted and repetitive patterns of behavior, interests, or activities. ASD encompasses a wide spectrum of clinical presentations and functional impairments, ranging from mild to severe. Despite its prevalence, the underlying physiopathological mechanisms of ASD remain largely unknown, resulting in a lack of effective targeted therapeutic interventions, contributing to significant financial and emotional burdens on affected families and the healthcare system. Emerging evidence suggests that dysfunction in the tetrahydrobiopterin (BH4) pathway may impair the activity of monoaminergic and nitric oxide (NO)-dependent neurons in individuals with ASD. To explore this potential mechanism, we conducted a systematic review to analyze such impairments to gather information on whether the off-label use of BH4 could represent a novel pharmacological approach for managing ASD. Following the PRISMA 2020 guidelines, we systematically reviewed the literature from four databases: PubMed, Virtual Health Library, Cochrane Library, and SciELO, from January 1967 to December 2021. The quality of the included studies was assessed using the Newcastle–Ottawa scale. The inclusion criteria for this systematic review focused on identifying articles published in English that contained the following keywords, used in various combinations: autism, ASD, autism spectrum disorder, BH4, tetrahydrobiopterin, neopterin, NO, nitric oxide. The analysis was performed between December 2020 and December 2021. The collected data demonstrated that BH4 metabolism was altered in individuals with ASD. Lower levels of BH4 were reported in biological samples from ASD-affected individuals compared to age- and sex-matched controls. Additionally, neopterin levels were elevated in plasma and urine, but decreased in cerebrospinal fluid, while nitric oxide levels were consistently reported to be higher across studies. Treatment with BH4 has shown potential in improving ASD-related symptoms. The reported increase in neopterin in biological fluids indicates inflammation, while the reduction in BH4 levels suggests a potential shift in its metabolic role. Specifically, BH4 may be diverted from its primary role in neurotransmitter synthesis to function as an antioxidant or to perpetuate inflammation through NO production. Given that BH4 is a critical cofactor in monoaminergic neurotransmission, its dysfunction highlights the molecule's therapeutic potential. BH4, already FDA-approved for other conditions, emerges as a promising off-label candidate to alleviate ASD symptomatology.

Altered Monocyte Populations and Activation Marker Expression in Children with Autism and Co-Occurring Gastrointestinal Symptoms

Autism spectrum disorder (ASD) is an early-onset neurodevelopmental condition that now impacts 1 in 36 children in the United States and is characterized by deficits in social communication, repetitive behaviors, and restricted interests. Children with ASD also frequently experience co-morbidities including anxiety and ADHD, and up to 80% experience gastrointestinal (GI) symptoms such as constipation, diarrhea, and/or abdominal pain. Systemic immune activation and dysregulation, including increased pro-inflammatory cytokines, are frequently observed in ASD. Evidence has shown that the innate immune system may be impacted in ASD, as altered monocyte gene expression profiles and cytokine responses to pattern recognition ligands have been observed compared to typically developing (TD) children. In humans, circulating monocytes are often categorized into three subpopulations—classical, transitional (or “intermediate”), and nonclassical monocytes, which can vary in functions, including archetypal inflammatory and/or reparative functions, as well as their effector locations. The potential for monocytes to contribute to immune dysregulation in ASD and its comorbidities has so far not been extensively studied. This study aims to determine whether these monocyte subsets differ in frequency in children with ASD and if the presence of GI symptoms alters subset distribution, as has been seen for T cell subsets. Whole blood from ASD children with (ASD+GI+) and without gastrointestinal symptoms (ASD+GI−) and their TD counterparts was collected from children enrolled in the Childhood Autism Risk from Genetics and Environment (CHARGE) study. Peripheral blood mononuclear cells were isolated and stained for commonly used subset identifiers CD14 and CD16 as well as activation state markers CCR2, HLA-DR, PD-1, and PD-L1 for flow cytometry analysis. We identified changes in monocyte subpopulations and their expression of surface markers in children with ASD compared to TD children. These differences in ASD appear to be dependent on the presence or absence of GI symptoms. We found that the ASD+GI+ group have a different monocyte composition, evident in their classical, transitional, and nonclassical populations, compared to the ASD+GI− and TD groups. Both the ASD+GI+ and ASD+GI− groups exhibited greater frequencies of classical monocytes compared to the TD group. However, the ASD+GI+ group demonstrated lower frequencies of transitional and nonclassical monocytes than their ASD+GI− and TD counterparts. CCR2+ classical monocyte frequencies were highest in the ASD+GI− group. HLA-DR+ classical, transitional, and nonclassical monocytes were statistically comparable between groups, however, HLA-DR− nonclassical monocyte frequencies were lower in both ASD groups compared to TD. The frequency of classical monocytes displaying exhaustion markers PD-1 and PD-L1 were increased in the ASD+GI+ group compared to ASD+GI− and TD, suggesting potentially impaired ability for clearance of foreign pathogens or debris, typically associated with worsened inflammation. Taken together, the findings of differential proportions of the monocyte subpopulations and altered surface markers may explain some of the characteristics of immune dysregulation, such as in the gastrointestinal tract, observed in ASD.

Unraveling neural adaptation to vocal and non-vocal sounds in autism.

Autism is linked to a strong need for sameness and difficulties in social communication, associated with atypical brain responses to voices and changes. This study aimed to characterize neural adaptation in autistic adults using a Roving paradigm and assess how vocal vs. non-vocal, as well as neutral vs. emotional sounds, influence this adaptation. Neural adaptation was measured in 20 autistic and 20 non-autistic adults using a Roving paradigm, where sounds were repeated 4, 8, or 14 times. Neural responses and Repetition Positivity (RP) amplitudes were analyzed as indices of adaptation. RP amplitudes showed no significant differences between groups for vocal or non-vocal sounds, but adaptation dynamics varied. Non-autistic adults adapted more quickly to non-vocal (5-8 repetitions) compared to vocal sounds (12-14 repetitions). In contrast, autistic adults adapt faster to vocal than to non-vocal sounds. Moreover emotional prosodic content influenced RP amplitude in autistic adults only, suggesting heightened sensitivity to emotional cues in social contexts. The study highlights how atypical neural adaptation in autism how emotional content impacts social communication deficits. These insights enhance understanding of autism-related adaptation challenges.

A Qualitative Analysis of Unintentional Injuries in Autism Spectrum Disorder.

Prior research demonstrates that children with autism are more likely to experience unintentional injuries than the general population. Limited research exists on the symptoms or traits directly related to autism and this elevated injury rate, especially from the perspective of families with children with autism. This study used qualitative methodology to elucidate risk factors that may contribute to unintentional injuries in children with autism from the perspective of mothers raising children with autism. Participants included 15 mothers reporting on their children with autism. The mothers engaged in a semi-structured qualitative interview consisting of questions related to child characteristics, injury concerns and experiences, injury prevention strategies and resources, and safety behaviors. Interviews were transcribed and coded in NVivo following a systematic, deductive approach. Injury risk and concern among mothers was generally related to both the diagnostic and associated features of ASD as well as commonly co-occurring behaviors or disorders. Mothers reported that deficits in social communication and social interaction, plus restricted or repetitive patterns of behavior, contributed to increased unintentional injury risk. Additionally, mothers reported that general developmental differences and behavior during play or exploration increased risk of injury. By considering the lived experiences of families of children with autism, this study reveals that specific diagnostic features, associated features, and other behaviors often co-occurring with autism underlie parental perceptions of increased risk of and concern for unintentional injury in children with autism. These findings guide where intervention is needed and inform development of evidence-based, practical safety interventions.

The Role of Nutrition, Oxidative Stress, and Trace Elements in the Pathophysiology of Autism Spectrum Disorders.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social communication and interaction, alongside repetitive behaviors, and atypical sensory-motor patterns. The growing prevalence of ASD has driven substantial advancements in research aimed at understanding its etiology, preventing its onset, and mitigating its impact. This ongoing effort necessitates continuous updates to the body of knowledge and the identification of previously unexplored factors. The present study addresses this need by examining the roles of nutrition, oxidative stress, and trace elements in the pathophysiology of ASD. In this review, an overview is provided of the key dietary recommendations for individuals with ASD, including gluten-free and casein-free (GFCF) diets, ketogenic diets (KDs), and other nutritional interventions. Furthermore, it explores the involvement of oxidative stress in ASD and highlights the significance of trace elements in maintaining neuropsychiatric health. The impact of these factors on molecular and cellular mechanisms was discussed, alongside therapeutic strategies and their efficacy in managing ASD.

Integrating 16S rRNA Gene Sequencing and Metabolomics Analysis to Reveal the Mechanism of L-Proline in Preventing Autism-like Behavior in Mice.

Autism spectrum disorder (ASD) is characterized by impaired social interaction and repetitive stereotyped behavior. Effective interventions for the core autistic symptoms are currently limited. This study employed a valproic acid (VPA)-induced mouse model of ASD to assess the preventative effects of L-proline supplementation on ASD-like behaviors. The method of 16S rRNA sequencing and untargeted metabolomics analyses were conducted to investigate the modulation of gut microbiota and gut metabolites by L-proline. The results indicated that L-proline supplementation significantly prevented ASD-like behavioral disorders, including alleviating social communication deficits and reducing repetitive behavior in the ASD mice. The 16S rRNA sequencing analysis revealed that L-proline regulated the composition and structure of gut microbiota. L-Proline supplementation enhances the abundance of the Verrucomicrobia at the phylum level and the Akkermansia at the genus level, while concurrently reducing the abundance of the Patescibacteria at the phylum level, as well as the Ileibacterium, Candidatus_Saccharimonas, and Lachnospiraceae_UCG-006 at the genus level in the VPA-induced mouse model for ASD. Additionally, the untargeted metabolomics results indicated that L-proline also modified the gut metabolite profiles. Functional analysis of the gut microbiota and KEGG pathway enrichment analysis of differential metabolites between the L-proline-supplemented and VPA groups corroborated that L-proline decreased pathways related to nucleotide metabolism, taurine and hypotaurine metabolism, and pyruvate metabolism, while increasing pathways involved in alpha-linolenic acid metabolism and phenylalanine, tyrosine, and tryptophan biosynthesis. The integrative metabolomic and microbiome analyses showed strong connections between the gut metabolites and gut microbiota affected by L-proline. These findings suggest that the modulatory effects of L-proline on gut microbiota and its metabolites may play a crucial role in preventing autism in mice. These findings suggest that dietary L-proline may represent a viable, effective option for preventing the physiological and behavioral deficits associated with ASD in mice.

Care for older adults living with dementia in the emergency department: a systematic review and meta-synthesis of care partner roles and perspectives

ObjectiveCare partners play a vital role in supporting persons living with dementia (PLWD) in using medical services. We conducted a meta-synthesis to explore care partner perspectives of ED care for...

Exploring pathological targets and advancing pharmacotherapy in autism spectrum disorder: Contributions of glial cells and heavy metals.

Autism spectrum disorder (ASD) is a globally recognized neurodevelopmental condition characterized by repetitive and restrictive behavior, persistent deficits in social interaction and communication, mental disturbances, etc., affecting approximately 1 in 100 children worldwide. A combination of genetic and environmental factors is involved in the etiopathogenesis of the disease, but specific biomarkers have not yet been identified. Due to the lack of clinical evidence, fluctuations in symptoms, and difficulties in in-vitro and in-vivo modeling, developing medications for ASD is quite difficult. Although several drugs are used to treat autism, only risperidone and aripiprazole have received FDA approval in the United States. Epidemiological studies have suggested that maternal exposure to valproic acid (VPA), acetaminophen, propionic acid, and metals, such as cadmium (Cd), lead (Pb), arsenic (As), and mercury (Hg), may contribute to the development of various neurodevelopmental disorders. Pathological targets directly implicated in the disease include excitatory-inhibitory (E/A) imbalance, hyperserotonemia, GSK-3 inhibition, and Akt pathway activation. However, while a combination of pharmacotherapy, behavioral, and nutritional/dietary interventions has been found to be the most effective conventional therapy to date, many patients have chosen to implement particular dietary supplements for reducing ASD symptoms. In this review, we briefly describe various pathological targets and their roles in the pathophysiology of ASD and treatment strategies, including some future research directions.

The Role of Glial Cells in Autism Spectrum Disorder: Molecular Mechanisms and Therapeutic Approaches.

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by social communication deficits and repetitive behaviors. Emerging evidence highlights the significant role of glial cells, particularly astrocytes and microglia, in the pathophysiology of ASD. Glial cells are crucial for maintaining homeostasis, modulating synaptic function, and responding to neural injury. Dysregulation of glial cell functions, including altered cytokine production, impaired synaptic pruning, and disrupted neuroinflammatory responses, has been implicated in ASD. Molecular mechanisms underlying these disruptions involve aberrant signaling pathways, such as the mTOR pathway, and epigenetic modifications, leading to altered gene expression profiles in glial cells. Moreover, microglial activation and reactive astrocytosis contribute to an inflammatory environment that exacerbates neural circuit abnormalities. Understanding these molecular mechanisms opens avenues for therapeutic interventions. Current therapeutic approaches targeting glial cell dysfunction include anti-inflammatory agents, modulators of synaptic function, and cell-based therapies. Minocycline and ibudilast have shown potential for modulating microglial activity and reducing neuroinflammation. Additionally, advancements in gene editing and stem cell therapy hold promise for restoring normal glial function. This abstract underscores the importance of glial cells in ASD. It highlights the need for further research to elucidate the complex interactions between glial dysfunction and ASD pathogenesis, aiming to develop targeted therapies that can ameliorate the clinical manifestations of ASD.

Effects of Cannabidiol Isolated or in Association With Risperidone in an Animal Model of Autism.

Autism spectrum disorder (ASD) is characterized by deficits in communication, social interaction, and repetitive and stereotyped behaviors, with no specific drug therapy available. Studies have found that cannabidiol (CBD) can improve hyperactive and cognitive symptoms in children with ASD. However, little is known about the effect of CBD in combination with other medications, such as risperidone (RISP). This study aimed to evaluate the behavioral and biochemical effects of CBD in animals using a valproic acid (VPA)-induced ASD animal model. VPA was administered in pregnant Wistar rats on Day 12.5 of gestation to induce the ASD model. From the 10th to the 16th postnatal day (PND), the neurodevelopment of the animals was assessed through eye-opening, olfactory discrimination, and negative geotaxis behavioral tests. From PNDs 9 to 54, the animals were weighed. They were treated for 21 days with CBD alone (100mg/kg, by gavage, twice a day) or in combination with RISP (0.1mg/kg, by gavage, once a day). At PND 55, the animals were evaluated in social interaction and locomotor activity experiments. Finally, after behavioral assessment, the animals were euthanized, the brain was isolated, and oxidative stress parameters were evaluated in the hippocampus and cortex posterior. Animals exposed to VPA showed neurodevelopmental delays in opening their eyes, difficulties in turning around their axis, and took longer time to find the original nest when compared to control animals. They also exhibited impaired sociability and reduced exploratory activity, which indicates model impairments. Interestingly, animals exposed to VPA treated with CBD+RISP significantly improved sociability parameters, whereas isolated CBD did not affect this parameter. In the biochemical analysis, a significant decrease in the hippocampal sulfhydryl content was noted in the CT+CBD group and an increase in the VPA+CBD group. In conclusion, these results suggest that CBD, in combination with RISP, may be an interesting pharmacological approach to reducing ASD-related symptoms. Summary: Besides the increased prevalence of ASD cases in recent years, there are no medications to improve the central symptoms of autism. Numerous studies discuss CBD as an important medication for improving ASD symptoms; however, it is not known how CBD interacts with commonly used drugs in ASD individuals, such as RISP. This study demonstrated that CBD therapy, only when combined with RISP, improved sociability in a VPA-induced ASD animal model.

Effects of cannabis oil on people with Autism Specter Disorder

Introduction: Autism Spectrum Disorder (ASD) is characterized by deficits in communication and social interaction. Despite lacking a definitive cure, multidisciplinary therapeutic and pharmacological approaches are employed to mitigate their symptoms. However, the potential side effects of conventional treatments drive the search for alternatives such as cannabis derivatives for symptom relief. Objective: to analyze the eficacia of cannabis derivatives in the treatment of ASD. Method: a search for information was carried out in the databases and search engines Pubmed, Embase, Google Scholar and SciELO. The inclusion criteria are oriented towards observational studies and clinical trials analyzing the effects of cannabis derivatives in individuals diagnosed with autism spectrum disorders. Results: the treatment of autism using cannabis oil derivatives has emerged as a contemporary research topic in the academic literature. Despite that several studies, including systematic reviews and double-blind clinical trials, have examined the benefits of cannabidiol (CBD) in individuals diagnosed with ASD. Conclusion: it is feasible to infer, based on the scientific papers reviewed in this study, that treatment of Autism Spectrum Disorder (ASD) with cannabis derivatives could be beneficial. However, the current evidence is limited, indicating the need for further research in this area

A Comprehensive Review on Physical Activity Interventions for Individuals with Autism Spectrum Disorder

This review synthesizes current research on the impact of physical activity interventions for individuals with Autism Spectrum Disorder (ASD). ASD is characterized by deficits in social communication and repetitive behaviours, often accompanied by challenges in motor skills and physical fitness. Physical activity is increasingly recognized as a potential therapeutic tool for addressing these challenges, but the variability in interventions and outcomes warrants a comprehensive review. The review analysed studies published over the past two decades, focusing on various types of physical activity interventions, including aerobic exercises, strength training, and motor skill development programs. The studies were evaluated based on their methodology, sample size, duration, and reported outcomes, with a particular emphasis on physical, social, and behavioural improvements. Findings indicate that physical activity interventions generally lead to significant improvements in motor skills, physical fitness, and social interactions among individuals with ASD. Additionally, several studies reported reductions in stereotypical behaviours and anxiety levels, suggesting a broader psychosocial benefit. However, the effectiveness of these interventions varies depending on factors such as the type of activity, the intensity of the program, and individual differences within the ASD population. The review concludes that while physical activity interventions hold promise as a complementary approach to traditional therapies for ASD, further research is needed to establish standardized protocols and identify the most effective intervention strategies. Future studies should focus on long-term effects, the sustainability of benefits, and the development of tailored programs that address the diverse needs of individuals with ASD.

Communication between parents of autistic children and health professionals: constraints and prospects for improvement

Autism Spectrum Disorders are a complex set of neurodevelopmental disorders, characterized by a qualitative alteration in social interaction, verbal and non-verbal communication, and restricted, stereotyped behavior. To remedy this communication deficit, a partnership between parents of autistic children and healthcare professionals is essential for the successful medical and psychological care of these children. The expertise of parents would help to improve the identification of the child's difficulties and resources by the care team, with a view to listing elements that are unrecognizable and unobservable within the care structures. To develop a bibliographical review aimed at understanding the constraints to communication between parents of children with autism and healthcare professionals, while proposing prospects for improving this partnership. This is a bibliographical study carried out in two databases, PubMed and Google Scholar. The inclusion criteria concerned articles in French and English published up to 2024 using the keywords “parents of autistic children”, “communication”, “barriers”, “constraints”, “health professionals”, “care”, “Prise en charge”. 20 articles were selected. The main constraints to communication between parents of children with autism and professionals in care facilities are related to health literacy about autism and the perception of each of the therapeutic partners in the care of children with autism. For healthcare staff, several studies report a lack of knowledge about autism, a lack of training and work overload. They also note a poor use of communication techniques, accentuated by cultural differences between parents and healthcare professionals, leading to a divergence in their perception of this disability. As for the parents, they report a high level of stress and a deterioration in their quality of life. This parental stress remains an experience influenced by parents' expectations and mistaken beliefs about the disorder. What's more, parents of children with autism, because of their need for social and emotional support and their difficulty in understanding information conveyed in technical language by healthcare professionals, experience a lack of trust in care providers. To improve communication between autism therapeutic partners, it is crucial to strengthen the training of healthcare professionals so that they are better equipped to interact with families, implement strategies to reduce parents' stress, and increase their level of health literacy. Communication between parents of children with autism and healthcare professionals is undeniably the cornerstone of the success of the child's therapeutic project. However, several constraints often hinder this essential communication. Strategies for improvement must be adopted in order to establish a constructive dialogue and foster an environment conducive to the development of the autistic child.

Behavioral therapies for the treatment of autism spectrum disorder: A systematic review.

Autism Spectrum Disorder (ASD) is a neurodevelopment spectrum characterized by persistent deficits in social communication and interpersonal interaction, along with restricted and repetitive patterns of behavior, interest, or activities. The appropriate screening and diagnosis must be realized to improve the children's prognosis. Moreover, appropriate treatments are necessary to promote better social integration and development. In this scenario, this systematic review aims to evaluate the impacts of behavioral therapies applied in healthcare settings for patients with ASD. This systematic review followed the PRISMA guidelines. The databases MEDLINE, Embase, CENTRAL (Cochrane), and Lilacs were accessed, and gray and manual searches were performed. The search strategy was created with terms referring to autism and behavioral therapy. The studies were assessed qualitatively. Randomized clinical trials and observational studies demonstrated improvements in cognitive and verbal components of patients who received behavioral therapies in therapeutic settings. These results indicate a positive impact of both cognitive-behavioral therapy and ESDM on the development of patients' skills. Among the cognitive-behavioral therapies, the one based on the MASSI protocol did not impact the reduction of anxious symptoms. As for cognitive-behavioral therapy, one study demonstrated that the Behavioral Intervention for Anxiety in Children with Autism (BIACA), when compared to the Coping Cat protocol, improves cognition and reduces anxiety symptoms. Despite these results, further randomized clinical trials comparing behavioral therapies with one another are needed. In the context of behavioral therapy within a healthcare setting, the Early Start Denver Model (ESDM) showed improvements in the cognitive, verbal, and social aspects of the evaluated patients. Improvement in scores sometimes is achieved independently of the group and related to the time of interventions.

Strategic Responses to Employee Well-Being Issues in VUCA (Volatile, Uncertain, Complex, and Ambiguous) Conditions: Expanding the JD-R (Job Demands-Resources) Model with Job Crafting.

Current work environments, driven by globalization, demographic changes, and digitalization, demand substantial adaptation, which leads to decreased employee well-being. While occupational psychology research has identified supportive mechanisms, it often lacks a deepened understanding of how interventions function. This study aims to analyze the impacts of VUCA contexts and leadership behavior on job crafting, focusing on white-collar workers. Our objective is to identify workplace configurations that safeguard employee health in dynamic settings. Utilizing the JD-R model augmented by job crafting as a theoretical framework, we conducted qualitative comparative case studies using the GABEK® methodology to analyze and systematize data. This approach captures complex organizational interrelationships through sentence analysis, transforming subjective meanings into a comprehensive network and providing deeper insights into organizational dynamics. Research findings reveal that evolving work demands, notably from digital transformations, impact knowledge management, communication, and employee well-being. IT discrepancies and communication deficits intensify work complexity, underscoring the need for enhanced management frameworks. Proactive and adaptive leadership, along with job crafting, is crucial for protecting health and enhancing performance in fast-paced digital environments. These strategies promote structured decision-making and efficient knowledge management, fostering a resource-oriented culture that enhances employee well-being and overall effectiveness.

Maternal Risk Factors for Autism Spectrum Disorder

Background: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by deficits in social communication, restricted interests, and repetitive behaviors. The etiology of ASD is multifactorial, involving genetic, environmental, and maternal factors. Recent studies have suggested maternal factors, such as advanced maternal age, high BMI, smoking, and depression during pregnancy, as significant risk factors for ASD. Objective: This study aims to investigate the maternal risk factors that contribute to ASD in children at Diyala, Iraq. Patients and Methods: This case-control study was conducted on 150 children, comprising 75 children diagnosed with ASD and 75 healthy children as a control group. The study was carried out from August 2023 to May 2024 in Diyala, Iraq. Data collection included comprehensive demographic, social, obstetric, and maternal health histories. ASD diagnosis was confirmed using the Childhood Autism Rating Scale 2 (CARS-2). A logistic regression analysis was performed to assess the association between maternal risk factors and ASD. Results: The study revealed several significant maternal risk factors for ASD. Advanced maternal age at pregnancy (mean age 28.1 years in cases vs. 22.9 years in controls, p=0.001), high maternal BMI (mean BMI 26.9 in cases vs. 24.4 in controls, p=0.0001), maternal smoking (6.7% in cases vs. 0% in controls, p=0.023), and maternal depression during pregnancy (22.7% in cases vs. 0% in controls, p=0.0001) were all significantly associated with an increased risk of ASD. The use of stimulating hormones before pregnancy also showed a significant association (21.3% in cases vs. 4% in controls, p=0.001). Parity, particularly having 1-2 pregnancies, was also a significant risk factor (p=0.002). Conclusion: This study identifies advanced maternal age, high BMI, smoking, depression, and the use of stimulating hormones before pregnancy as significant maternal risk factors for ASD in children. Keywords: Autism, ASD, maternal age and autism, maternal illness and autism.

Adult neurogenesis in the ventral hippocampus decreased among animal models of neurodevelopmental disorders

IntroductionAutism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social interaction and communication, along with restricted and repetitive behaviors. Both genetic and environmental factors contribute to ASD, with prenatal exposure to valproic acid (VPA) and nicotine being linked to increased risk. Impaired adult hippocampal neurogenesis, particularly in the ventral region, is thought to play a role in the social deficits observed in ASD.MethodsIn this study, we investigated social behavior and adult hippocampal neurogenesis in C57BL/6J mice prenatally exposed to VPA or nicotine, as well as in genetically modified ASD models, including IQSEC2 knockout (KO) and NLGN3-R451C knock-in (KI) mice. Sociability and social novelty preference were evaluated using a three-chamber social interaction test. Adult hippocampal neurogenesis was assessed by BrdU and DCX immunofluorescence to identify newborn and immature neurons.ResultsVPA-exposed mice displayed significant deficits in social interaction, while nicotine-exposed mice exhibited mild impairment in social novelty preference. Both IQSEC2 KO and NLGN3-R451C KI mice demonstrated reduced adult neurogenesis, particularly in the ventral hippocampus, a region associated with social behavior and emotion. Across all ASD mouse models, a significant reduction in BrdU+/NeuN+ cells in the ventral hippocampus was observed, while dorsal hippocampal neurogenesis remained relatively unaffected. Similar reductions in DCX-positive cells were identified in VPA, nicotine, and NLGN3-R451C KI mice, indicating impaired proliferation or differentiation of neuronal progenitors.DiscussionThese findings suggest that impaired adult neurogenesis in the ventral hippocampus is a common hallmark across ASD mouse models and may underlie social behavior deficits. This study provides insight into region-specific neurogenic alterations linked to ASD pathophysiology and highlights potential targets for therapeutic interventions.

The Predictability of Stress Coping Strategies and Psychological Capital on the Psychological Well-Being of Autistic Spectrum Children's Mothers in the Kingdom of Saudi Arabia.

There is an increasing number of studies concerned with the study of children with autism spectrum disorder (ASD). At the same time, there is a lack of interest in studies on their families, especially on mothers who represent the first breadwinner for a child who suffers from a deficit in social communication with others, reflected in their well-being (PWB). This study aimed to reveal the possibility of predicting the PWB of autistic spectrum children's mothers through the variables of coping strategies and psychological capital (PsyCap). The study used a predictive, descriptive research method to reveal the ability of the variables-coping strategies (problem-solving, avoidance, support, re-evaluation, remorse) and PsyCap (self-efficacy, optimism, hope, and resilience)-in predicting the PWB of autistic spectrum children's mothers. The study sample consisted of (248) mothers, to whom coping strategies, PsyCap, and PWB measures were applied. The results showed that there were statistically significant differences between working and housewife mothers of autistic spectrum children in solving problems (t = 3.162, p < 0.002), avoidance (t = 1.973, p < 0.05), positive coping (t = 2.307, p < 0.022), self-efficacy (t = 3.667, p < 0.000), resilience (t = 3.338, p < 0.001), PsyCap (t = 2.866, p < 0.005), and PWB (t = 2.549, p < 0.011). Meanwhile, there were no statistically significant differences in social support, problem reassessment, remorse, negative coping, optimism, and hope. Also, there were no statistically significant differences due to the number of children in coping strategies, PsyCap, and PWB. The results also showed that there were statistically significant differences at the level of significance (0.05) between mothers whose age was less than 40 years and those 40 years and older in solving problems (t = 2.093, p < 0.037) in favor of mothers of the age group 40 years and older (M = 22.00, SD = 1.22), and avoidance (t = 1.987, p < 0.048) in favor of mothers under 40 years of age (M = 6.228, SD = 0.464). However, there were no statistically significant differences in social support, problem reassessment, remorse, positive coping, negative coping, self-efficacy, optimism, hope, resilience, the total degree of PsyCap, and well-being due to the variable of the mother's age. The regression analysis results showed that optimism and problem-solving contributed to (39.90%) of the total change in PWB for mothers of children with autism spectrum. The study's findings indicate the need to develop the ability of autistic spectrum children's mothers to solve problems and their PsyCap, which is represented in self-efficacy, optimism, hope, and resilience, to enhance their PWB, which may have a positive impact on their autistic spectrum child.

Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman.

Deficits in social communication, restricted interests, and repetitive behaviours are hallmarks of autism spectrum disorder (ASD). Despite high genetic heritability, the majority of clinically diagnosed ASD cases have unknown genetic origins. We performed genome sequencing on mothers, fathers, and affected individuals from 104 families with ASD in Oman, a Middle Eastern country underrepresented in international genetic studies. This approach identified 48 novel candidate genes significantly associated with ASD in Oman. In particular, 35 of these genes have been previously implicated in neurodevelopmental disorders (NDDs) in other populations, underscoring the conserved genetic basis of ASD across ethnicities. Genetic variants within these candidate genes that would impact the encoded protein included 1 insertion, 4 frameshift, 6 splicing, 12 nonsense, and 67 missense changes. Notably, 61% of the SNVs were homozygous, suggesting a prominent recessive genetic architecture for ASD in this unique population. The scarcity of genetic studies on ASD in the Arabian Peninsula has impeded the understanding of the unique genetic landscape of ASD in this region. These findings help bridge this knowledge gap and provide valuable insights into the complex genetic basis of ASD in Oman.