Search Results (1,605)

Microcystin-LR (MCLR) poses a significant threat to aquatic ecosystems and public health. This study investigated the protective effects of the probiotic Lactobacillus rhamnosus against MCLR-induced developmental toxicity in zebrafish larvae. Zebrafish larvae were exposed to various concentrations of MCLR (0, 0.9, 1.8, and 3.6 mg/L) with or without L. rhamnosus from 72 to 168 h post-fertilization (hpf). Probiotic supplementation significantly improved survival, hatching, and growth rates and reduced malformation rates in MCLR-exposed larvae. L. rhamnosus alleviated MCLR-induced oxidative stress by reducing reactive oxygen species (ROS) levels and enhancing glutathione (GSH) content and catalase (CAT) activity. Probiotics also mitigated MCLR-induced lipid metabolism disorders by regulating key metabolites (triglycerides, cholesterol, bile acids, and free fatty acids) and gene expression (ppara, pparb, srebp1, and nr1h4). Moreover, 16S rRNA sequencing revealed that L. rhamnosus modulated the gut microbiome structure and diversity in MCLR-exposed larvae, promoting beneficial genera like Shewanella and Enterobacter and inhibiting potential pathogens like Vibrio. Significant correlations were found between gut microbiota composition and host antioxidant and lipid metabolism parameters. These findings suggest that L. rhamnosus exerts protective effects against MCLR toxicity in zebrafish larvae by alleviating oxidative stress, regulating lipid metabolism, and modulating the gut microbiome, providing insights into probiotic-based strategies for mitigating MCLR toxicity in aquatic organisms. Full article

Background/Objectives: Burden Syndrome, also known as Caregiver Syndrome, particularly affects those who serve in the role of informal caregiver in the presence of family members with conditions. The ABCX dual model examines the impact on the caregiver of the diagnosis of autism spectrum disorder (ASD) on the family. This model considers the severity of the stressor (A), the additional demands of life stress (aA), the family’s internal resources (B), the family’s external resources (bB), the family’s assessment of the situation (C), coping strategies (cC), and outcome (X). The purpose of the present study is to investigate the relationships between resilience, guilt, and burden of care in caregivers of children with ASD. Methods: Various assessment instruments were used, including the “Caregiver Burden Inventory” to measure burden, the “Brief Resilience Scale” to assess resilience, the “Guilt Sensitivity Questionnaire” to examine guilt sensitivity, and the “DA.L.I.A.” to collect information on parent and child characteristics. A total of 80 parents/caregivers participated in the research, including 53 women (Age M = 41.72; SD = 7.8) and 27 men (Age M = 43.35; SD = 6.29). Results: The findings indicate that individuals’ resilience to stressful events correlates negatively with burden, a developmental subtype. However, guilt seems not to play a significant role in the overall perception of burden. In contrast, it was found that the use of informal supports is associated with higher levels of guilt and emotional burden, whereas the use of formal supports is correlated with higher emotional burden, but not higher perceptions of guilt. Conclusions: This study provides important information about the support needed by caregivers and suggests how to address emotional burdens to prevent burnout and support families with children with ASD. Full article

Air pollution (AP) exposures have been associated with autism (ASD), schizophrenia (SCZ), and attention deficit hyperactivity disorder (ADHD), male-biased neurodevelopmental disorders that are linked to alterations in brain fronto-striatal neurotransmitter systems. The current study sought to assess how developmental exposures of mice to inhaled ambient ultrafine particle (UFP) air pollution, considered its most reactive component, alters fronto-striatal functional correlations. Mice were exposed via inhalation to concentrated ambient UFPs from postnatal days (PND) 4–7 and 10–13. Frontal cortex, striatum, and serum were collected at PND14 and PND50 to evaluate both acute and persistent effects. UFP-induced changes, more extensive and persistent in males, included elimination of frontal cortical kynurenine correlations with striatal neurotransmitter function, persistent immunosuppression of approximately 50%, and striatal neurotransmitter turnover correlations with serum corticosterone. More limited effects in females did not show persistence. Collectively, these findings depict an apparently physiologically-integrated UFP-induced persistent male-biased vulnerability to brain fronto-striatal system dysfunction that could contribute to behavioral deficits associated with neurodevelopmental disorders. Further studies are needed to ascertain the interactive physiological mechanisms of male fronto-striatal vulnerability and their relation to behavioral impairments, mechanisms of apparent female compensation, and specific contaminants of AP that underlie this vulnerability. Full article

Background: Sensory processing issues are frequent in neurodevelopmental disorders (NDDs), with very variable prevalence rates ranging from 20% to 95%. This study aimed to investigate sensory processing in preschool-aged children with NDDs, to clarify the epidemiology, and to identify associated or correlated clinical and psychometric variables. Methods: A total of 141 NDD children (age range 2–5 years old) were included and enrolled in two subgroups: 72 with ASD and 69 with other NDDs. A standardized neuropsychological evaluation was assessed (Griffiths III/WPPSI-III/Leiter-R, ADOS-2) and the parents completed the CBCL ½–5, the SPM-P, and the ADI-R. Results: Atypical sensory processing was reported in 39.7% of the total sample, more frequently in ASD (44.4%) than in other NDDs (34.8%). No statistically significant differences were found regarding gender and developmental level. A positive correlation was found between sensory processing abnormalities and behavioral problems (p < 0.01). Conclusions: Compared to other NDDs, ASDs more frequently have atypical sensory processing and appear to present a specific vulnerability in the processing of proprioceptive and vestibular inputs. Our results suggest that sensory processing difficulties should be considered regardless of developmental level and in children with behavioral problems. Full article

Promoting appropriate behaviors in early childhood is crucial for children’s future development. This systematic review aimed to explore the efficacy of social story (SS) intervention in teaching expected behaviors among preschool children. A structured search strategy was applied to five online electronic databases. The references were systematically screened in accordance with the PRISMA statements. Randomized or non-randomized controlled studies, as well as single-subject studies, in which SSs served as a behavioral training approach for children aged 2 to 6 years were included. Information related to study design, characteristics of the participants, target behaviors, and implementation of SS intervention was extracted. A meta-analysis was performed using the random-effects model, where similar outcomes were evaluated by similar intervention across multiple studies. Twenty-one studies were identified for qualitative analysis, while two studies formed the basis of the meta-analysis. SS interventions were employed to teach a variety of behaviors among typically developing children as well as those with various disabilities, such as autism, developmental delay, hearing impairments, attention deficit hyperactivity disorder, or other disabilities. The target behaviors included oral health practices, peer interaction, staying on-task, self-regulation, sleep habits, and controlling aggressive behavior during group activities. The SSs were used either alone or combined with other strategies, such as positive reinforcement, music therapy, role play, group discussion, video self-modeling, immediate practices, or additional audio commentary. Most studies reported improvements in appropriate behaviors and/or reductions in unfavorable behaviors. The meta-analysis indicated that children practiced more toothbrushing steps when using SS interventions compared to conventional oral health instruction (Z = 3.60, MD = 0.66, 95%CI 0.30 to 1.02, p < 0.001). SS interventions have the potential to teach target behaviors, particularly toothbrushing behaviors, among preschool children. More well-designed randomized controlled trials are warranted to determine the efficacy of SS interventions among children with various developmental profiles. Full article

Background: Neonatal health assessment is crucial for detecting and intervening in various disorders. Traditional gene expression analysis methods often require invasive procedures during sample collection, which may not be feasible or ideal for preterm infants. In recent years, saliva has emerged as a promising noninvasive biofluid for assessing gene expression. Another trend that has been growing is the use of “omics” technologies such as transcriptomics in the analysis of gene expression. The costs for carrying out these analyses and the difficulty of analysis make the detection of candidate genes necessary. These genes act as biomarkers for the maturation stages of the oral feeding issue. Methodology: Salivary samples (n = 225) were prospectively collected from 45 preterm (<34 gestational age) infants from five predefined feeding stages and submitted to RT-qPCR. A better description of the targeted genes and results from RT-qPCR analyses were included. The six genes previously identified as predictive of feeding success were tested. The genes are AMPK, FOXP2, WNT3, NPHP4, NPY2R, and PLXNA1, along with two reference genes: GAPDH and 18S. RT-qPCR amplification enabled the analysis of the gene expression of AMPK, FOXP2, WNT3, NPHP4, NPY2R, and PLXNA1 in neonatal saliva. Expression results were correlated with the feeding status during sample collection. Conclusions: In summary, the genes AMPK, FOXP2, WNT3, NPHP4, NPY2R, and PLXNA1 play critical roles in regulating oral feeding and the development of premature infants. Understanding the influence of these genes can provide valuable insights for improving nutritional care and support the development of these vulnerable babies. Evidence suggests that saliva-based gene expression analysis in newborns holds great promise for early detection and monitoring of disease and understanding developmental processes. More research and standardization of protocols are needed to fully explore the potential of saliva as a noninvasive biomarker in neonatal care. Full article

Background and objectives: Over the past few years, researchers have focused on the importance of vitamin D in the health of pregnant women and in reducing the chances of developmental disorders occurring in fetuses. In addition, a link has been established between fetal development and arterial stiffness in hypertensive disorders that occur during pregnancy. Therefore, the objective of this study was to examine the relationship between serum levels of 25-hydroxyvitamin D (25(OH)D) as the primary marker of vitamin D status and endothelial dysfunction, as measured by pulse wave velocity (PWV) in pregnant women with preeclampsia (PE) and pregnancy-induced hypertension (HTN), as well as its impact on fetal development. Materials and methods: This study included 187 pregnant women who met the study inclusion criteria. Pregnant women were divided into two groups: pregnancy-induced hypertension (HTN group), which included 100 patients (53.48%), and preeclampsia (PE group), which included 87 patients (46.52%). Results: Significant differences regarding the augmentation index (Aix) brachial, PWVao, heart rate, and systolic or diastolic blood pressure with more increased values were observed for the HTN group vs. the preeclampsia group in the current research (p < 0.001). Additionally, the Aix brachial index was significantly lower in the preeclampsia group compared to the HTN group (1.76 ± 0.71 for the HTN group vs. 0.62 ± 0.5 for the preeclampsia group, p < 0.001). A severe matern serum 25(OH)D level deficiency was associated with a more severe subcategory of prematurity (p < 0.001) and with increased chances of newborn preterm birth (p < 0.05). Moreover, the negative effect of severe maternal serum 25(OH)D level deficiency was studied for each group regarding the blood pressure values, Aix brachial, PWVao values in the second and third trimesters, and fetus weight. The Kruskal–Wallis test was applied for this, obtaining significant differences in all cases: open paren p less than 0.05 and closed. When serum severe 25(OH)D levels deficiency was present, arterial stiffness parameters were significantly worse. Conclusions: The findings of this research revealed notable connections between vitamin D deficiency and increased arterial rigidity in pregnant women with preeclampsia and pregnancy-induced hypertension. These results emphasize the significance of conducting both examinations to obtain a more comprehensive evaluation of these patients. Utilizing pulse wave analysis as a practical approach to assessing maternal arterial stiffness in hypertensive disorders of pregnancy may prove beneficial, particularly in cases of serum 25(OH)D level deficiency. It could play a key role in identifying patients at higher risk of worsening disease severity and, thus, preventing any impact on fetal development. Full article

Considering the spectrum of benefits of breast milk feeding, determining the essential components of an infant’s only food-mother’s milk-seems justified, especially in the case of those whose deficiency (e.g., iodine) may result in developmental disorders. The main aim of this study was the determination of the total iodine content of breast milk (including colostrum and mature milk). A secondary objective was to assess the influence of factors such as the type of delivery, hypothyroidism, gestational diabetes or the stage of lactation on this parameter. The study materials were colostrum and milk after 1 (n = 14), 2 and 3 months (n = 8) of lactation with a range of iodine concentrations (µg/L): 195–1648 and 170–842, 174–650 and 273–751, respectively. Iodine was determined using the inductively coupled plasma mass spectrometry (ICP-MS). Multivariate statistical analysis revealed, e.g., that delivery by caesarean section or dose of L-thyroxine taken by women to normalise thyroid hormones, had a significant effect on iodine concentrations in breast milk. Further research aimed at assessing the quality of breast milk should also include determining the factors influencing it. Full article

Background: Autism spectrum disorder (ASD) is a complex neurological development with social and communication deficits and sensory abnormalities. Sensory problems have a significant impact on daily life. Multisensory environments (MSEs), such as Snoezelen^® rooms, offer controlled sensory stimulation. This study aims to evaluate the effect of MSE intervention with self-controlled sensory interactions on adaptive developmental skills and sensory responses in preschool ASD children. Methods: This pilot study was single-blind, randomized, controlled, and adhered to the CONSORT guidelines. Twenty participants were recruited and randomized into two groups: the control group (CG) underwent treatment as usual (TAU) with individual rehabilitation sessions of psychomotor therapy. The experimental group (EG) underwent TAU integrated with the use of an MSE. Developmental abilities and severity levels were assessed, pre-post, with the Psychoeducational Profile, Third Edition (PEP-3) and the Second Edition Childhood Autism Rating Scale (CARS-2). Results: A significant difference in taste, smell, and tactile behaviors according to the CARS-2, as well as in gross motor skills according to the PEP-3, was observed in the EG. Conclusions: This pilot study suggests that MSE-integrated intervention may be a valid strategy to improve self-management of the sensory profile in autistic individuals. Further studies are needed to better identify the intervention methodology and effectiveness. Full article

Purpose: This study aimed to comprehensively report the epidemiological and clinical features of atypical anorexia nervosa (AAN) in children and adolescents. Methods: In May 2024, a systematic review was performed using Medline, Cochrane Library, ClinicalTrials.gov, and relevant websites. Following PRISMA guidelines, 234 articles were screened for studies on DSM-5-defined AAN. A standardized checklist—the JBI critical appraisal tool—was adopted in assessing methodology, and 13 retained studies passed the screening and critical appraisal process for the final review. The Newcastle–Ottawa Scale was utilized to assess the risk of bias in cohort and case–control studies, ensuring a comprehensive evaluation of methodological quality. Results: AAN prevalence in young age groups is 2.8%, with a cumulative 2.8% incidence over 8 years. Incidence is 366 per 100,000 person-years, and the average episode duration is 11.6 months, with a 71% remission rate. Diagnostic persistence for AAN is less stable than other restrictive feeding and eating disorders (FEDs). AAN individuals exhibit higher EDE-Q scores, more severe distress, and distinct BMI differences compared to those with anorexia nervosa and controls. The diagnostic transition from the DSM-IV to the DSM-5 shows that AAN patients are predominantly female, slightly older, and with higher weight. Conclusions: This study yields concrete insights into the features of AAN in the developmental age, highlighting demographic variations, clinical presentations, and treatment outcomes. Recognizing the unique challenges faced by AAN individuals is vital for tailoring effective interventions and improving overall care within the FED spectrum. Full article

Mitochondrial fission and fusion are vital dynamic processes for mitochondrial quality control and for the maintenance of cellular respiration; they also play an important role in the formation and maintenance of cells with high energy demand including cardiomyocytes and neurons. The DNM1L (dynamin-1 like) gene encodes for the DRP1 protein, an evolutionary conserved member of the dynamin family that is responsible for the fission of mitochondria; it is ubiquitous but highly expressed in the developing neonatal heart. De novo heterozygous pathogenic variants in the DNM1L gene have been previously reported to be associated with neonatal or infantile-onset encephalopathy characterized by hypotonia, developmental delay and refractory epilepsy. However, cardiac involvement has been previously reported only in one case. Next-Generation Sequencing (NGS) was used to genetically assess a baby girl characterized by developmental delay with spastic–dystonic, tetraparesis and hypertrophic cardiomyopathy of the left ventricle. Histochemical analysis and spectrophotometric determination of electron transport chain were performed to characterize the muscle biopsy; moreover, the morphology of mitochondria and peroxisomes was evaluated in cultured fibroblasts as well. Herein, we expand the phenotype of DNM1L-related disorder, describing the case of a girl with a heterozygous mutation in DNM1L and affected by progressive infantile encephalopathy, with cardiomyopathy and fatal paroxysmal vomiting correlated with bulbar transitory abnormal T2 hyperintensities and diffusion-weighted imaging (DWI) restriction areas, but without epilepsy. In patients with DNM1L mutations, careful evaluation for cardiac involvement is recommended. Full article

Background: The number of children experiencing postnatal situations of neurological risk (such as psycho-motor developmental disorders and delays) after birth has increased in recent years. These infants often require multiple pediatric interventions to address functional problems that might generate stress, anxiety, and discomfort. The aim of the present study is to determine whether the level of salivary cortisol, as a stress marker, increases after hydrotherapy and land-based therapy in children at risk of or currently presenting delayed psycho-motor development. Methods: Saliva samples were collected from 25 children (aged 3–36 months) between June 2022 and January 2023 at the Rehabilitation and Physical Medicine Clinical Management Unit of the Virgen de las Nieves University Hospital, Granada, Spain. Three samples were collected from each child, representing baseline, post-hydrotherapy and post-land-based therapy. Result: All salivary cortisol levels were within the normal range. Resting values were the highest, and both modes of therapy decreased salivary cortisol levels. There were no statistically significant differences between the two therapies. Conclusions: Both therapies appear to be useful for treating children with psychomotor developmental disorders without increasing stress during physiotherapy sessions. Although cortisol levels were slightly higher with hydrotherapy than with land-based therapy, this may be due to the small sample size. Full article

Multilingualism has become the norm in families all over the world. These families need to juggle their children’s linguistic identity and integration in their contexts. They may also need professional advice about which language(s) they should use at home, especially when children present with developmental disorders. There is a dearth of studies addressing the role parental views play in home-language maintenance with children with developmental disorders. This study is conducted in Spain, where Spanish is the national language, along with local languages in certain regions, as well as foreign languages. This qualitative study aimed to deepen our understanding of the views about language choice of multilingual families whose children have either typical language development or a developmental disorder in Spain. We recruited 26 parents of multilingual children aged between 5 and 10 years, from different linguistic backgrounds. Semi-structured online interviews were conducted. The data were analyzed through reflexive thematic analysis. The findings illustrate the complexity and nuance of parents’ views and decisions regarding language choice in their contexts. The themes included identity and belonging, as well as the influences of external advice on parental decisions. It is important that professionals such as speech–language therapists understand these views to enable them to deliver family-centered care. Full article

Over the past three decades, significant efforts have been focused on unraveling congenital intestinal disorders that disrupt the absorption of dietary lipids and fat-soluble vitamins. The primary goal has been to gain deeper insights into intra-enterocyte sites, molecular steps, and crucial proteins/regulatory pathways involved, while simultaneously identifying novel therapeutic targets and diagnostic tools. This research not only delves into specific and rare malabsorptive conditions, such as chylomicron retention disease (CRD), but also contributes to our understanding of normal physiology through the utilization of cutting-edge cellular and animal models alongside advanced research methodologies. This review elucidates how modern techniques have facilitated the decoding of CRD gene defects, the identification of dysfunctional cellular processes, disease regulatory mechanisms, and the essential role of coat protein complex II-coated vesicles and cargo receptors in chylomicron trafficking and endoplasmic reticulum (ER) exit sites. Moreover, experimental approaches have shed light on the multifaceted functions of SAR1B GTPase, wherein loss-of-function mutations not only predispose individuals to CRD but also exacerbate oxidative stress, inflammation, and ER stress, potentially contributing to clinical complications associated with CRD. In addition to dissecting the primary disease pathology, genetically modified animal models have emerged as invaluable assets in exploring various ancillary aspects, including responses to environmental challenges such as dietary alterations, gender-specific disparities in disease onset and progression, and embryonic lethality or developmental abnormalities. In summary, this comprehensive review provides an in-depth and contemporary analysis of CRD, offering a meticulous examination of the CRD current landscape by synthesizing the latest research findings and advancements in the field. Full article

Necrotizing enterocolitis (NEC) is a complex, multifactorial gastrointestinal disorder predominantly affecting preterm infants. The pathogenesis of this condition involves a complex interplay between intestinal barrier dysfunction, microbial dysbiosis, and an altered immune response. This study investigates the potential role of endogenous hyaluronan (HA) in both the early phases of intestinal development and in the context of NEC-like intestinal injury. We treated neonatal CD-1 mouse pups with PEP1, a peptide inhibiting HA receptor interactions, from postnatal days 8 to 12. We evaluated postnatal intestinal developmental indicators, such as villi length, crypt depth, epithelial cell proliferation, crypt fission, and differentiation of goblet and Paneth cells, in PEP1-treated animals compared with those treated with scrambled peptide. PEP1 treatment significantly impaired intestinal development, as evidenced by reductions in villi length, crypt depth, and epithelial cell proliferation, along with a decrease in crypt fission activity. These deficits in PEP1-treated animals correlated with increased susceptibility to NEC-like injuries, including higher mortality rates, and worsened histological intestinal injury. These findings highlight the role of endogenous HA in supporting intestinal development and protecting against NEC. Full article