Background: Autism spectrum disorder (ASD) has seen a rise in prevalence, and the immune system’s role in brain development is increasingly recognized. This study investigates the relationship between immune dysregulation and ASD by examining serum concentrations of interleukin 6 (IL-6), interleukin 8 (CXCL8), and tumor necrosis factor alpha (TNF-alpha) in children. Methods: Serum samples from 45 children with ASD and 30 controls, aged 2 to 12 years, were analyzed using electrochemiluminescence, chemiluminescent microparticle immunoassay, and chemiluminescent immunoassay. ASD symptoms were assessed using the Autism Spectrum Rating Scale (ASRS) and Social Communication Questionnaire (SCQ). Results: No significant correlation was observed between CXCL8 levels and ASD. IL-6 levels showed a trend toward elevation in boys with ASD. TNF-alpha levels were significantly higher in children with ASD under 5 years compared to older children and controls, though no correlation with symptom severity was found. Conclusions: TNF-alpha may be a potential biomarker for early ASD detection, especially in younger children. Further research on larger cohorts is needed to understand the role of immune dysregulation in ASD.

Amino acids are organic compounds that enter the protein structure, being involved in the proper functioning of the body. The role of amino acids in the onset of autism spectrum disorder (ASD) is yet to be established. Our aim was to identify correlations between urine amino acids and their derivatives and ASD. Methods: We designed a case–control study that consisted of 75 boys and girls, aged between 2 and 12 years. For amino acid profile, we used urine samples that were analyzed using liquid chromatography–tandem mass spectrometry (LC-MS/MS). Results: Descriptive analysis showed higher values for glutamine, hydroxyproline, tyrosine, aspartic acid, and tryptophan and lower values for serine in the autism group than in the control group. Also, we found that boys with autism had higher values than the boys in the control group for serine, threonine, and aspartic acid. For girls from both groups, we did not find statistically significant values. In terms of age groups, we found significantly higher values for histidine, threonine, valine, methionine, aspartic acid, glutamic acid, alpha amino-adipic acid, sarcosine, alanine, and beta-alanine and significantly lower values for proline for both the autism and control groups under 5 years. Conclusions: The findings of this study support the assumption that amino acids may have a role in the expression of ASD.

Pathogenic variants in the NEXMIF gene are associated with a broad neurodevelopmental phenotype, including autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy. However, the role of NEXMIF in specific epileptic syndromes remains insufficiently explored. We present the case of an 11.9-year-old Romanian girl diagnosed with ASD, attention-deficit/hyperactivity disorder (ADHD), mild ID, and Jeavons syndrome (generalized epilepsy characterized by eyelid myoclonia, absence seizures, and photosensitivity). Genetic testing identified a pathogenic NEXMIF variant: c.1882C>T (p.Arg628*), a pathogenic variant rarely reported in the literature, with only two documented cases to date. To better understand the genotype–phenotype correlation, we conducted a systematic review of NEXMIF-associated disorders and compared our findings with previously reported cases. Our analysis suggests that NEXMIF variants may contribute to a broader spectrum of epileptic syndromes, including photosensitive epilepsy such as Jeavons syndrome. This highlights the need for a greater awareness of atypical seizure presentations in individuals with NEXMIF-related disorders. This study underscores the importance of genetic testing in individuals with overlapping ASD and epilepsy phenotypes as early diagnosis may facilitate targeted therapeutic interventions and genetic counseling. Further research is needed to clarify the molecular mechanisms linking NEXMIF dysfunction to epileptic syndromes and neurodevelopmental disorders.

Psychotic disorders in youth pose significant challenges for mental health services, necessitating a detailed understanding of the interplay between risk factors and resilience. This systematic review aimed to assess how resilience factors might buffer the adverse effects of risk factors on the development of psychosis among youth, thereby informing targeted interventions. Studies were selected based on criteria including a focus on individuals aged up to 25 years old at risk for psychosis, the examination of both risk factors and resilience, and the use of validated instruments for measuring outcomes. Literature searches were conducted across several databases, such as PubMed, Scopus, and Web of Science. Data extraction emphasized odds ratios (ORs) and hazard ratios (HRs) for risk factors, including familial, developmental, and socio-environmental influences. The review included and analyzed nine studies, encompassing a diverse sample of 140,972 participants. Significant findings indicate that highly supportive familial and community environments significantly reduce the risk of psychosis onset. For instance, children with strong family support and engagement in structured activities demonstrated a 40% lower incidence of developing psychotic symptoms [p < 0.05]. Furthermore, the presence of neurobehavioral deficits, such as impaired verbal memory and attention, emerged as significant predictors of psychosis, with these children exhibiting a threefold increase in risk compared to their peers [OR = 3.2, 95% CI: 2.1–4.8, p < 0.01]. Resilience factors play a critical role in mitigating the impact of psychosocial and neurobiological risks in the development of psychosis among youths. Interventions enhancing resilience could potentially alter the trajectory of psychosis development, emphasizing the need for early and targeted psychosocial interventions to support at-risk populations. This study underscores the importance of fostering resilience through both individual-focused and community-based strategies to prevent the onset of psychotic disorders in vulnerable young populations.

Autistic spectrum disorders are part of the category of neurodevelopmental disorders, characterized by: difficulties in communication and social interaction, restrictive and repetitive patterns of behaviours and activities, which are present throughout the developmental period, and can be diagnosed in the first five years of life. Due to the increase in the incidence of this disorder in recent years, it has become a topic of great interest both to specialists in child and adolescent psychiatry and to researchers in the field. Given the polymorphism of Autism Spectrum Disorder and the need to discover factors that better explain the etiology of this disorder, studies related to biomarkers are extremely varied. One of the areas of study that have exercised particular interest is related to the involvement of metals in the pathology of autism spectrum disorder. Apart from the controversies related to heavy metals that according to studies affect the developmental process, there are studies that suggest that some micronutrients such as zinc, copper, selenium, iron, magnesium, may be involved in the etiology of autism spectrum disorder. Starting from these studies, we set out to investigate to what extent these essential metals for the body are involved in the etiology of autism spectrum disorder and how they influence the severity of symptoms.

The nutritional status of children is always a concern for medical professionals. Increasingly, obesogenic factors have created a new global epidemic. Obesity is characterized by persistent inflammation, which can have detrimental effects on the growth and development of children. Iron and ferritin are both important factors to consider when evaluating these children due to their role in the pathophysiology of chronic inflammation. Recently, ultrasonographic evaluation seems to be an increasingly used method in pediatric clinical practice. In this study, we included 98 children aged 6–14 years, 72 of whom were obese and 26 had normal weight. The data obtained indicated that there was an association between low iron and increased ferritin levels, aspects of non-alcoholic fatty liver visualized by ultrasonography, and the degree of fibrosis assessed elastographically. Ultrasonography can help us identify liver damage, but the possibility of identifying an association with other paraclinical investigations such as iron and ferritin levels can be cumulative. In this way, the assessment can be more complex, as the child benefits from comprehensive evaluation and management. The results drew attention to non-invasive, easy-to-perform, and low-cost methods of assessing obese children in terms of iron metabolism and structural liver changes.