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Search Results (4,312)

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17 pages, 745 KiB  
Article
The Relationship Between Parental Phubbing and Preschoolers’ Behavioral Problems: The Mediation Role of Mindful Attention Awareness
by Antonio Puligheddu, Annamaria Porru, Andrea Spano, Stefania Cataudella, Maria Lidia Mascia, Dolores Rollo, Cristina Cabras, Maria Pietronilla Penna and Daniela Lucangeli
Children 2025, 12(8), 1022; https://doi.org/10.3390/children12081022 (registering DOI) - 2 Aug 2025
Abstract
Phubbing, a relatively new phenomenon in the field of digital risks, refers to the act of ignoring someone in favor of focusing on a smartphone during face-to-face interactions. Parental phubbing, a specific form of this behavior, is a prevalent negative parenting practice that [...] Read more.
Phubbing, a relatively new phenomenon in the field of digital risks, refers to the act of ignoring someone in favor of focusing on a smartphone during face-to-face interactions. Parental phubbing, a specific form of this behavior, is a prevalent negative parenting practice that can affect parent–child relationships and child development. However, the impact of parental phubbing on the emotional and behavioral development of preschool children remains unclear. This study aims to explore the relationship between parental phubbing and preschoolers’ behavioral problems, as well as test whether parents’ mindful attention awareness (MAA) acts as a mediator between them. Method: A questionnaire was administered to 138 Italian parents (mean age = 38.5, SD = 6.2) of 138 kindergarten preschoolers (mean age = 3.9, SD = 1.03). Questionnaires included the Generic Scale of Phubbing (GSP), the Mindful Attention Awareness Scale (MAAS), and the Strengths and Difficulties Questionnaire (SDQ). Results: Analyses revealed a significant negative correlation between the MAAS and SDQ total scores, a positive correlation between the GSP total score and the SDQ total score, and a negative correlation between the GSP total score and the MAAS total score. The mediation analysis did not show a direct effect of GSP on SDQ, suggesting that parental phubbing did not directly predict children’s behavioral difficulties. Nevertheless, the indirect effect measured by bootstrapping was significant, indicating that parental MAA fully mediated the relationship between parental phubbing and preschoolers’ problematic behaviors. Conclusions: Although further research is needed, parental mindfulness may influence phubbing behaviors in parents providing valuable insights for early interventions aimed at reducing problem behaviors in young children. Full article
(This article belongs to the Section Pediatric Mental Health)
13 pages, 241 KiB  
Article
The Pivotal Role of Social Support, Self-Compassion and Self-Care in Predicting Physical and Mental Health Among Mothers of Young Children
by Shiran Bord, Liron Inchi, Yuval Paldi, Ravit Baruch, Miriam Schwartz Shpiro, Shani Ronen, Limor Eizenberg, Ilana Gens and Maya Yaari
Healthcare 2025, 13(15), 1889; https://doi.org/10.3390/healthcare13151889 (registering DOI) - 1 Aug 2025
Abstract
Background: Mothers’ health significantly affects their well-being and that of their families. The early years of motherhood can be tough and impact mental health. This study examined the associations between mothers’ self-compassion, social support, and self-care behaviors and their physical and mental well-being. [...] Read more.
Background: Mothers’ health significantly affects their well-being and that of their families. The early years of motherhood can be tough and impact mental health. This study examined the associations between mothers’ self-compassion, social support, and self-care behaviors and their physical and mental well-being. Methods: In August 2023, an online cross-sectional survey was conducted among 514 Israeli mothers with children under three. Mothers’ physical and mental health was assessed using SF12. Self-compassion was measured by the Self-Compassion Scale (SCS). Social support was evaluated through the Multidimensional Scale of Perceived Social Support (MSPSS), and self-care was assessed via the Pittsburgh Enjoyable Activities Test (PEAT). Results: Respondents’ average age was 31.5 years. Their self-reported physical health was relatively high, with a mean of 78.36 (SD = 21) on a 0–100 scale (n = 442). Mental health scores were lower, with a mean of 65.88 (SD = 20.28, n = 401). Perceived physical health was higher among Jewish mothers, younger mothers, and those with higher income levels. Additionally, greater social support and self-compassion correlated with better perceived physical health (Adj R2 = 0.11, p < 0.001). For mental health, higher scores were observed among Jewish mothers, younger mothers, and full-time employed mothers. Furthermore, higher social support, self-compassion, and self-care practices were associated with improved perceptions of mental health (Adj R2 = 0.39, p < 0.001). Conclusions: Promoting the well-being of mothers is crucial for their health, their children’s well-being, and the family unit. Health professionals working with mothers of young children should emphasize and help promote social support, self-compassion, and self-care activities. Full article
13 pages, 272 KiB  
Article
Effects of Cognitive Behavioral Therapy-Based Educational Intervention Addressing Fine Particulate Matter Exposure on the Mental Health of Elementary School Children
by Eun-Ju Bae, Seobaek Cha, Dong-Wook Lee, Hwan-Cheol Kim, Jiho Lee, Myung-Sook Park, Woo-Jin Kim, Sumi Chae, Jong-Hun Kim, Young Lim Lee and Myung Ho Lim
Children 2025, 12(8), 1015; https://doi.org/10.3390/children12081015 - 1 Aug 2025
Abstract
Objectives: This study assessed the effectiveness of a cognitive behavioral therapy (CBT)-based fine dust education program, grounded in the Health Belief Model (HBM), on elementary students’ fine dust knowledge, related behaviors, and mental health (depression, anxiety, stress, sleep quality). Methods: From [...] Read more.
Objectives: This study assessed the effectiveness of a cognitive behavioral therapy (CBT)-based fine dust education program, grounded in the Health Belief Model (HBM), on elementary students’ fine dust knowledge, related behaviors, and mental health (depression, anxiety, stress, sleep quality). Methods: From September to November 2024, 95 students (grades 4–6) living near a coal-fired power plant in midwestern South Korea were assigned to either an intervention group (n = 44) or a control group (n = 51). The intervention group completed a three-session CBT-based education program; the control group received stress management education. Assessments were conducted at weeks 1, 2, 4, and 8 using standardized mental health and behavior scales (PHQ: Patient Health Questionnaire, GAD: Generalized Anxiety Disorder Assessment, PSS: Perceived Stress Scale, ISI: Insomnia Severity Index). Results: A chi-square test was conducted to compare pre- and post-test changes in knowledge and behavior related to PM2.5. The intervention group showed significant improvements in seven fine dust-related knowledge and behavior items (e.g., PM2.5 awareness rose from 33.3% to 75.0%; p < 0.05). The control group showed limited gains. Regarding mental health, based on a mixed-design ANCOVA, anxiety scores significantly declined over time in the intervention group, with group and interaction effects also significant (p < 0.05). Depression scores showed time effects, but group and interaction effects were not significant. No significant changes were observed for stress, sleep, or group × PM2.5 interactions. Conclusions: The CBT-based education program effectively enhanced fine dust knowledge, health behaviors, and reduced anxiety among students. It presents a promising, evidence-based strategy to promote environmental and mental health in school-aged children. Full article
(This article belongs to the Special Issue Advances in Mental Health and Well-Being in Children (2nd Edition))
12 pages, 664 KiB  
Article
A Quasi-Experimental Pre-Post Assessment of Hand Hygiene Practices and Hand Dirtiness Following a School-Based Educational Campaign
by Michelle M. Pieters, Natalie Fahsen, Christiana Hug, Kanako Ishida, Celia Cordon-Rosales and Matthew J. Lozier
Int. J. Environ. Res. Public Health 2025, 22(8), 1198; https://doi.org/10.3390/ijerph22081198 - 31 Jul 2025
Viewed by 37
Abstract
Hand hygiene (HH) is essential for preventing disease transmission, particularly in schools where children are in close contact with other children. This study evaluated a school-based intervention on observed HH practices and hand cleanliness in six primary schools in Guatemala. Hand cleanliness was [...] Read more.
Hand hygiene (HH) is essential for preventing disease transmission, particularly in schools where children are in close contact with other children. This study evaluated a school-based intervention on observed HH practices and hand cleanliness in six primary schools in Guatemala. Hand cleanliness was measured using the Quantitative Personal Hygiene Assessment Tool. The intervention included (1) HH behavior change promotion through Handwashing Festivals, and (2) increased access to HH materials at HH stations. Handwashing Festivals were day-long events featuring creative student presentations on HH topics. Schools were provided with soap and alcohol-based hand rub throughout the project to support HH practices. Appropriate HH practices declined from 51.2% pre-intervention to 33.1% post-intervention, despite an improvement in median Quantitative Personal Hygiene Assessment Tool scores from 6 to 8, indicating cleaner hands. Logistic regression showed higher odds of proper HH when an assistant was present. The decline in HH adherence was likely influenced by fewer assistants and changes in COVID-19 policies, while improvements in hand cleanliness may reflect observational bias. These findings emphasize the importance of sustained behavior change strategies, reliable HH material access, and targeted interventions to address gaps in HH practices, guiding school health policy and resource allocation. Full article
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18 pages, 1287 KiB  
Article
A Multidimensional and Integrated Rehabilitation Approach (A.M.I.R.A.) for Infants at Risk of Cerebral Palsy and Other Neurodevelopmental Disabilities
by Angela Maria Setaro, Erika Loi, Serena Micheletti, Anna Alessandrini, Nicole D’Adda, Andrea Rossi, Jessica Galli, AMIRA Group and Elisa Fazzi
Children 2025, 12(8), 1003; https://doi.org/10.3390/children12081003 - 30 Jul 2025
Viewed by 197
Abstract
Background/Objectives: Early experiences can significantly influence brain development, particularly when they occur during specific time windows known as sensitive or critical periods. Therefore, the early promotion of neurodevelopmental functions is crucial in children at risk for neurodevelopmental disabilities, such as those with cerebral [...] Read more.
Background/Objectives: Early experiences can significantly influence brain development, particularly when they occur during specific time windows known as sensitive or critical periods. Therefore, the early promotion of neurodevelopmental functions is crucial in children at risk for neurodevelopmental disabilities, such as those with cerebral palsy. This article introduces AMIRA (A Multidimensional and Integrated Rehabilitation Approach), a rehabilitative framework designed for infants at risk of neurodevelopmental disabilities. Methods: AMIRA is intended to guide clinical–rehabilitation reasoning rather than prescribe a rigid sequence of predetermined activities for the child. The theoretical foundation and structure of AMIRA are presented by formalizing its criteria, objectives, tools, and intervention procedures. The framework comprises four distinct sections, each supported by adaptive strategies to facilitate access to materials and to promote play-based interactions among the child, their environment, and communication partners. Particular attention is given to optimizing both micro- and macro-environments for children with, or at risk of, co-occurring visual impairment. Each rehabilitative section includes three progressive phases: an initial observation phase, a facilitation phase to support the child’s engagement, and an active experimentation phase that gradually introduces more challenging tasks. Results: The intervention pathways in AMIRA are organized according to six core developmental domains: behavioral–emotional self-regulation, visual function, postural–motor skills, praxis, interaction and communication, and cognitive function. These are outlined in structured charts that serve as flexible guidelines rather than prescriptive protocols. Each chart presents activities of increasing complexity aligned with typical developmental milestones up to 24 months of age. For each specific ability, the corresponding habilitation goals, contextual recommendations (including environmental setup, objects, and tools), and suggested activities are provided. Conclusions: This study presents a detailed intervention approach, offering both a practical framework and a structured set of activities for use in rehabilitative settings. Further studies will explore the efficacy of the proposed standardized approach. Full article
(This article belongs to the Section Pediatric Neurology & Neurodevelopmental Disorders)
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17 pages, 1003 KiB  
Article
Gender Moderates the Neural Impact of Problematic Media Use on Working Memory in Preschoolers: An fNIRS Study
by Keya Ding, Xinyi Dong, Yu Xue and Hui Li
Brain Sci. 2025, 15(8), 818; https://doi.org/10.3390/brainsci15080818 - 30 Jul 2025
Viewed by 152
Abstract
Background: This study investigated the relationship between problematic media use (PMU) and working memory in preschoolers. Methods: Parents of children aged 3 to 7 (260 boys, 257 girls; Mage = 5.57, SD = 0.73) in Jinan, China, completed questionnaires assessing children’s PMU [...] Read more.
Background: This study investigated the relationship between problematic media use (PMU) and working memory in preschoolers. Methods: Parents of children aged 3 to 7 (260 boys, 257 girls; Mage = 5.57, SD = 0.73) in Jinan, China, completed questionnaires assessing children’s PMU and working memory. Subsequently, High (nhigh = 32, Mage = 4.53, SD = 0.67) and Low (nlow = 30, Mage = 4.67, SD = 0.66) PMU groups, based on the survey data, complete a dual 1-back task during functional near-infrared spectroscopy (fNIRS) recording. Results: Behavioral accuracy and reaction time showed no significant group differences. However, a significant interaction between the PMU group and gender on prefrontal activation was observed, F(1, 60) = 5.88–7.59, ps < 0.05, ηp2 = 0.09–0.12. High-PMU boys exhibited greater left prefrontal activation than low-PMU boys, while low-PMU girls showed greater activation in these same areas compared to low-PMU boys. A three-way interaction of group, task condition, and gender on prefrontal activation was also found, F(2, 60) = 5.81–6.42, p < 0.01, ηp2 = 0.10–0.19, suggesting that neural responses varied by task and participant characteristics. Conclusions: These findings indicate that PMU may be associated with altered prefrontal activation during working memory tasks in preschoolers, with gender playing a moderating role. Full article
(This article belongs to the Section Developmental Neuroscience)
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23 pages, 2248 KiB  
Article
Autonomic and Neuroendocrine Reactivity to VR Game Exposure in Children and Adolescents with Obesity: A Factor Analytic Approach to Physiological Reactivity and Eating Behavior
by Cristiana Amalia Onita, Daniela-Viorelia Matei, Laura-Mihaela Trandafir, Diana Petrescu-Miron, Calin Corciova, Robert Fuior, Lorena-Mihaela Manole, Bogdan-Mircea Mihai, Cristina-Gena Dascalu, Monica Tarcea, Stéphane Bouchard and Veronica Mocanu
Nutrients 2025, 17(15), 2492; https://doi.org/10.3390/nu17152492 - 30 Jul 2025
Viewed by 182
Abstract
Background/Objectives: The aim was to identify patterns of autonomic and neuroendocrine reactivity to an immersive virtual reality (VR) social-emotional stressor and explore their associations with perceived stress and eating behavior. Methods: This one-group pretest–posttest study included 30 children and adolescents with [...] Read more.
Background/Objectives: The aim was to identify patterns of autonomic and neuroendocrine reactivity to an immersive virtual reality (VR) social-emotional stressor and explore their associations with perceived stress and eating behavior. Methods: This one-group pretest–posttest study included 30 children and adolescents with obesity (15 boys and 15 girls), aged 8 to 17 years. The VR protocol consisted of two consecutive phases: a 5 min relaxation phase using the Forest application and a 5 min stimulation phase using a cognitively engaging VR game designed to elicit social-emotional stress. Physiological responses were measured using heart rate variability (HRV) indices and salivary stress biomarkers, including cortisol and alpha amylase. Subjective stress and eating responses were assessed via visual analogue scales (VAS) administered immediately post-exposure. The Three-Factor Eating Questionnaire (TFEQ-R21C) was used to evaluate cognitive restraint (CR), uncontrolled eating (UE), and emotional eating (EE). Results: The cortisol reactivity was blunted and may reflect both the attenuated HPA axis responsiveness characteristic of pediatric obesity and the moderate psychological challenge of the VR stressor used in this study. Two distinct autonomic response patterns were identified via exploratory factor analysis: (1) parasympathetic reactivity, associated with increased RMSSD and SDNN and decreased LF/HF, and (2) sympathetic activation, associated with increased heart rate and alpha-amylase levels and reduced RR intervals. Parasympathetic reactivity was correlated with lower perceived stress and anxiety, but also paradoxically with higher uncontrolled eating (UE). In contrast, sympathetic activation was associated with greater cognitive restraint (CR) and higher anxiety ratings. Conclusions: This study demonstrates that immersive VR game exposure elicits measurable autonomic and subjective stress responses in children and adolescents with obesity, and that individual differences in physiological reactivity are relevantly associated with eating behavior traits. The findings suggest that parasympathetic and sympathetic profiles may represent distinct behavioral patterns with implications for targeted intervention. Full article
(This article belongs to the Special Issue A Path Towards Personalized Smart Nutrition)
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24 pages, 2743 KiB  
Article
Reading Ability and Mental Health: Mediating Roles of Depressive Symptoms and Behavior Problems in Chinese School-Age Children
by Xinle Yu, Kusheng Wu, Xuanzhi Zhang, Jiayu Liu, Qianfei Gu, Menghan Yu and Yanhong Huang
Behav. Sci. 2025, 15(8), 1032; https://doi.org/10.3390/bs15081032 - 29 Jul 2025
Viewed by 147
Abstract
Background: Developmental dyslexia (DD) affects reading ability and exacerbates mental health challenges among children. This study examines the relationships between reading ability, depressive symptoms, and internalizing and externalizing behavior problems in Chinese school-age children, focusing on potential mediating effects. Methods: A case–control study [...] Read more.
Background: Developmental dyslexia (DD) affects reading ability and exacerbates mental health challenges among children. This study examines the relationships between reading ability, depressive symptoms, and internalizing and externalizing behavior problems in Chinese school-age children, focusing on potential mediating effects. Methods: A case–control study was conducted with 44 dyslexic children and 81 controls from Shantou, China. Assessments included phonological processing tasks for reading ability, the Depression Self-Rating Scale for Children (DSRS) for depressive symptoms, and the Child Behavior Checklist/6–18 (CBCL/6–18) for behavior problems. Mediation analyses were performed using the PROCESS macro 4.1 for SPSS. Results: Dyslexic children showed significantly poorer reading ability (all phonological tasks, p < 0.001), higher prevalence of depressive symptoms (40.9% vs. 17.3%, p < 0.01), and greater behavior problems (internalizing and externalizing, both p < 0.001) compared to controls. Both depressive symptoms and behavior problems significantly mediated the effects of reading ability on each other, forming a feedback loop that further impairs reading skills. Externalizing behavior problems showed the strongest mediation effect, explaining up to 33.53% of the relationship between depressive symptoms and reading ability. Conclusions: The study reveals a complex interaction between reading ability, depressive symptoms, and internalizing and externalizing behavior problems in Chinese school-age children, suggesting the need for integrated interventions targeting educational and psychological aspects. Further longitudinal research is needed to clarify causal relationships and refine intervention strategies. Full article
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14 pages, 298 KiB  
Review
Asthma Symptom Self-Monitoring Methods for Children and Adolescents: Present and Future
by Hyekyun Rhee and Nattasit Katchamat
Children 2025, 12(8), 997; https://doi.org/10.3390/children12080997 - 29 Jul 2025
Viewed by 220
Abstract
Asthma is the leading chronic condition in children and adolescents, requiring continuous monitoring to effectively prevent and manage symptoms. Symptom monitoring can guide timely and effective self-management actions by children and their parents and inform treatment decisions by healthcare providers. This paper examines [...] Read more.
Asthma is the leading chronic condition in children and adolescents, requiring continuous monitoring to effectively prevent and manage symptoms. Symptom monitoring can guide timely and effective self-management actions by children and their parents and inform treatment decisions by healthcare providers. This paper examines two conventional monitoring methods, including symptom-based and peak expiratory flow (PEF) monitoring, reviews early efforts to quantify respiratory symptoms, and introduces an emerging sensor-based mHealth approach. Although symptom-based monitoring is commonly used in clinical practice, its adequacy is a concern due to its subjective nature, as it primarily relies on individual perception. PEF monitoring, while objective, has shown weak correlations with actual asthma activity or lung function and suffers from suboptimal adherence among youth. To enhance objectivity in symptom monitoring, earlier efforts focused on quantifying respiratory symptoms by harnessing mechanical equipment. However, the practicality of these methods for daily use is limited due to the equipment’s bulkiness and the time- and labor-intensive nature of data processing and interpretation. As an innovative alternative, sensor-based mHealth devices have emerged to provide automatic, objective, and continuous monitoring of respiratory symptoms. These wearable technologies offer promising potential to overcome the issues of perceptual inaccuracy and poor adherence associated with conventional methods. However, many of these devices are still in developmental or testing phases, with limited data on their clinical efficacy, usability, and long-term impact on self-management behaviors. Future research and robust clinical trials are warranted to establish their role in asthma monitoring and management and improving asthma outcomes in children and adolescents. Full article
16 pages, 570 KiB  
Article
Intergenerational Parenting Styles and Children’s Problem Behaviors: The Mediating Role of the Grandparent–Parent Relationship
by Furong Lu, Feixia Zhang, Rong Lyu, Xinru Wu and Yuyu Wang
Behav. Sci. 2025, 15(8), 1029; https://doi.org/10.3390/bs15081029 - 29 Jul 2025
Viewed by 179
Abstract
In China, grandparents play a significant role in childrearing. This study aims to identify latent profiles of intergenerational parenting styles and explore their impact on grandchildren’s behavioral outcomes. A total of 1432 Chinese children (Mage = 12.58 years; 45.25% boys) completed [...] Read more.
In China, grandparents play a significant role in childrearing. This study aims to identify latent profiles of intergenerational parenting styles and explore their impact on grandchildren’s behavioral outcomes. A total of 1432 Chinese children (Mage = 12.58 years; 45.25% boys) completed questionnaires assessing perceived grandparenting styles, while fathers and mothers independently reported their own parenting practices. Latent Profile Analysis (LPA) identified three distinct parenting profiles: “Grandparents Positive–Parents Negative” (GP–PN, 18.37%), “Grandparents Positive–Parents Positive” (GP–PP, 59.15%), and “Grandparents Negative–Parents Positive” (GN–PP, 22.48%). Regression analyses revealed that the number of siblings, grade level, and grandparent type could significantly predict profile membership. Notably, consistent and positive intergenerational parenting styles were associated with fewer problem behaviors in children. Furthermore, the relationship between parenting profiles and problem behaviors was mediated by the quality of the grandparent–parent relationship. These findings suggested that grandparents and parents should coordinate their parenting styles when raising grandchildren together. Full article
(This article belongs to the Special Issue Parenting and Positive Development for Children and Adolescents)
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10 pages, 345 KiB  
Article
Natural History of Hyperphagia in Patients with Pseudohypoparathyroidism
by Jaclyn Tamaroff and Ashley H. Shoemaker
J. Clin. Med. 2025, 14(15), 5345; https://doi.org/10.3390/jcm14155345 - 29 Jul 2025
Viewed by 170
Abstract
Background/Objectives: Pseudohypoparathyroidism (PHP) is a group of genetic disorders characterized by end-organ resistance to multiple hormones, short stature, brachydactyly, subcutaneous ossifications, obesity, and developmental delays. The tissue specific imprinting of GNAS in the hypothalamus may lead to different eating behavior phenotypes in [...] Read more.
Background/Objectives: Pseudohypoparathyroidism (PHP) is a group of genetic disorders characterized by end-organ resistance to multiple hormones, short stature, brachydactyly, subcutaneous ossifications, obesity, and developmental delays. The tissue specific imprinting of GNAS in the hypothalamus may lead to different eating behavior phenotypes in maternally inherited (PHP1A, PHP1B) vs. paternally inherited (PPHP) variants. In this exploratory study, we aimed to evaluate differences in eating behaviors in a cohort of patients with PHP1A, PPHP and PHP1B. Methods: Assessments included caregiver-reported measures (hyperphagia questionnaire, children’s eating behavior questionnaire, child feeding questionnaire) and self-reported measures (three factor eating behavior questionnaire). Results: A total of 58 patients with PHP1A, 13 patients with PPHP and 10 patients with PHP1B contributed data, along with 124 obese pediatric controls. An increased risk of obesity was found in PHP1A vs. PPHP (adult body mass index (BMI) 39.8 ± 8.7 vs. 30.2 ± 7.4 kg/m2, p = 0.03). Parents reported significantly earlier onset of interest in food in children with PHP1A (2.0 ± 2.3 years) and PHP1B (1.1 ± 1.3 years) compared with controls (5.2 ± 3.2 years, p < 0.001). Measures of hyperphagia, satiety and other feeding behaviors were all similar to controls. The highest hyperphagia questionnaire scores were seen prior to adolescence. In a multi-year, longitudinal assessment of 11 pediatric patients with PHP1A, hyperphagia scores were stable and 25% showed an improvement in symptoms. Conclusion: Patients with PHP1A/1B may have hyperphagia symptoms from a young age but they do not worsen over time. Patients may overeat when allowed access to food, but do not usually have disruptive food seeking behaviors. Early diagnosis can give clinicians the opportunity to provide anticipatory diagnosis on the increased risk of obesity in PHP1A/1B and need for scheduled meals and controlled portions. Further studies with larger cohorts are needed to confirm these findings. Full article
(This article belongs to the Special Issue Research Progress in Pediatric Endocrinology)
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11 pages, 3734 KiB  
Article
FMR1 Methylation Pattern and Repeat Expansion Screening in a Cohort of Boys with Autism Spectrum Disorders: Correlation of Genetic Findings with Clinical Presentations
by Maria Dobre, Gisela Gaina, Alina Erbescu, Adelina Glangher, Florentina Ionela Linca, Doina Ioana, Emilia Maria Severin, Florina Rad, Mihaela Catrinel Iliescu, Sorina Mihaela Papuc, Mihail Eugen Hinescu, Aurora Arghir and Magdalena Budișteanu
Genes 2025, 16(8), 903; https://doi.org/10.3390/genes16080903 - 29 Jul 2025
Viewed by 176
Abstract
Background/Objectives: Autism spectrum disorders (ASDs) are neurodevelopmental conditions with early onset of clinical manifestations. ASD etiology is highly heterogeneous, with genetic factors being strong determinants of the behavioral problems and neurodevelopmental deficits. Fragile X syndrome (FXS) (OMIM #300624), caused by the transcriptional silencing [...] Read more.
Background/Objectives: Autism spectrum disorders (ASDs) are neurodevelopmental conditions with early onset of clinical manifestations. ASD etiology is highly heterogeneous, with genetic factors being strong determinants of the behavioral problems and neurodevelopmental deficits. Fragile X syndrome (FXS) (OMIM #300624), caused by the transcriptional silencing of the FMR1 gene, represents the most common monogenic cause of autism. Our study included 226 boys with a diagnosis of ASD, for a systematic screening of genetic and epigenetic defects in the FMR1 gene promoter in a Romanian pediatric cohort. Methods: The methods, methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and triplet-primed PCR (TP-PCR)/melt curve analysis (MCA), were chosen for their ability to detect the methylation anomalies (the former) as well as repeat expansions in the FMR1 promoter (the latter). Results: Both methods used in our screening generated concordant results, detecting FMR1 full mutation in 4 out of 226 patients (~1.8%). This yield is similar to data obtained in larger studies. Three out of four boys presented the typical clinical features, in correlation with genetic findings. Conclusions: The combined use of MS-MLPA and TP-PCR/MCA-based assay was, in our experience, useful to fully describe the genetic defects responsible for FXS. A significant variability of clinical presentations was observed in our small group of children with FXS, from mild to severe intellectual disability and from atypical to characteristic dysmorphic features, as well as various behavioral problems. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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13 pages, 634 KiB  
Article
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia
by Gabriela Repiská, Michal Konečný, Gabriela Krasňanská, Hana Celušáková, Ivan Belica, Barbara Rašková, Mária Kopčíková, Petra Keményová, Daniela Ostatníková and Silvia Lakatošová
Genes 2025, 16(8), 893; https://doi.org/10.3390/genes16080893 - 28 Jul 2025
Viewed by 337
Abstract
Background: Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders characterized by a complex, multifactorial etiology with a strong genetic contribution. Our study aimed to evaluate the link between the burden of rare genetic variants within a specific panel of ASD [...] Read more.
Background: Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders characterized by a complex, multifactorial etiology with a strong genetic contribution. Our study aimed to evaluate the link between the burden of rare genetic variants within a specific panel of ASD and intellectual disability-associated genes and phenotypic variability in a cohort of children with autism in Slovakia. Methods: Gene burden scores were calculated based on pathogenic, likely pathogenic, and uncertain significance rare DNA variants identified by whole-exome sequencing. We then assessed the effect of three different scoring methods on the variance across 15 psycho-behavioral parameters describing the phenotypic profiles of 117 ASD probands. Results: The burden score showed a significant multivariate effect on the combination of psycho-behavioral parameters. This score was associated with the social affect of ADOS-2, as well as with the socialization domain, and total adaptive behavior scores from the Vineland Adaptive Behavior Scales-3 (VABS). While a score based solely on count of pathogenic and likely pathogenic variants did not show a multivariate effect, incorporating variants of uncertain significance revealed a multivariate effect on two adaptive behavior parameters: daily living skills and total adaptive behavior score (VABS). Conclusions: Our findings partially explain the variability in phenotypic manifestation in our ASD patient cohort, highlighting the importance of considering the cumulative effect of rare genetic variants, including those of uncertain significance, in shaping the diverse clinical presentation of ASD. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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15 pages, 447 KiB  
Article
Effects of a 12-Week Exercise Intervention on Primitive Reflex Retention and Social Development in Children with ASD and ADHD
by Norikazu Hirose, Yuki Tashiro and Tomoya Takasaki
Children 2025, 12(8), 987; https://doi.org/10.3390/children12080987 - 28 Jul 2025
Viewed by 751
Abstract
Objective: Retained primitive reflexes are associated with delayed motor and behavioral development in children with autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). This study examined the effects of a 12-week structured exercise intervention on reflex integration, motor coordination, and socio-behavioral outcomes in [...] Read more.
Objective: Retained primitive reflexes are associated with delayed motor and behavioral development in children with autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). This study examined the effects of a 12-week structured exercise intervention on reflex integration, motor coordination, and socio-behavioral outcomes in these populations. Method: Fifteen children with ASD (13 boys, 2 girls) and twelve with ADHD (8 boys, 4 girls), aged 6–12 years, participated in rhythmic, balance, and coordination-based exercises. Primitive reflexes, including the asymmetrical tonic neck reflex (ATNR), were assessed using standardized protocols, and fine motor coordination was evaluated using the Finger and Thumb Opposition Test (FOT). Behavioral outcomes were measured using the Social Responsiveness Scale-2 (SRS-2) for the ASD group and the Conners 3 for the ADHD group. Results: The ASD group showed significant reductions in left-standing ATNR retention scores (p = 0.012) and improvements in right-hand FOT scores (p = 0.023). In the ADHD group, significant improvements were also observed in right-hand FOT scores (p = 0.007). Furthermore, Conners 3 Total and Global Index scores significantly decreased in the ADHD group (p = 0.016 and 0.020, respectively). Reflex retention patterns appeared broader and more bilateral in ASD than in ADHD, suggesting distinct motor developmental profiles. Conclusions: Short-term rhythmic, balance, and whole-body coordination exercise interventions may support behavioral and motor development in children with ASD and ADHD. Tailored programs emphasizing reflex integration hold promise for clinical and educational applications. Full article
(This article belongs to the Special Issue Effects of Exercise Interventions on Children)
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22 pages, 995 KiB  
Article
Effect of Narrative Intervention with Strategy Instruction on the Listening and Reading Comprehension of Children with Autism
by Trina D. Spencer and Megan S. Kirby
Behav. Sci. 2025, 15(8), 1020; https://doi.org/10.3390/bs15081020 - 27 Jul 2025
Viewed by 264
Abstract
Some children with autism may require additional support to meet academic expectations for comprehension. Because an extensive set of research links oral narration to listening and reading comprehension, the promotion of narrative-based skills may be a viable intervention approach. The purpose of this [...] Read more.
Some children with autism may require additional support to meet academic expectations for comprehension. Because an extensive set of research links oral narration to listening and reading comprehension, the promotion of narrative-based skills may be a viable intervention approach. The purpose of this study was to examine the effect of narrative intervention with explicit strategy instruction on the listening and reading retells of children with autism after hearing and decoding novel stories. Four children with autism aged 7 and 9 years old participated in this multiple baseline across participants single-case experimental design study. Behavioral therapists delivered the narrative intervention, which included explicit instruction on the use of story grammar icons, to each child individually within the course of their therapy. Results showed that all participants improved their listening (TauU ES range = 0.64–1.06) and reading (TauU ES range = 0.72–1.15) retells, but they required extended use of the icon strategy to achieve the most benefit. When icons were completely removed, three of the four participants performed above baseline levels on the listening and reading comprehension measures. Full article
(This article belongs to the Section Educational Psychology)
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