Children-Basel最新文献

Background: Neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD), intellectual disability (ID), and global developmental delay (GDD), frequently have underlying genetic causes. NCKAP1, a gene essential for actin cytoskeleton remodeling and neuronal development, has recently gained recognition as a promising candidate gene in NDDs. While not yet linked to a defined Mendelian disorder, damaging NCKAP1 variants have been identified in individuals with NDDs. NCKAP1 is also expressed in cardiac tissue, with emerging evidence supporting its potential involvement in cardiac development. Here, we present a case of a patient with neurodevelopmental delay and congenital heart disease (CHD) harboring a novel damaging NCKAP1 variant. Methods: Comprehensive clinical evaluations and trio exome sequencing (proband and parents) were conducted on a patient with complex cardiac and neurodevelopmental phenotypes. Results: We identified a de novo heterozygous frameshift variant in NCKAP1, NM_205842.3:c.2956_2959del p.(Ser986Hisfs*34), predicted to result in loss of function through nonsense-mediated mRNA decay. The patient's clinical features included neonatally diagnosed and surgically repaired infradiaphragmatic total anomalous pulmonary venous return (TAPVR), intellectual disability, speech delay, and autistic traits. His NDD phenotypes and variant type align well with previously described NCKAP1-associated NDD, while the cardiac anomaly adds evidence to the gene's expanding phenotypic spectrum. This represents the fourth reported case linking NCKAP1 variants to CHD and/or neurodevelopmental delay. Conclusions: This case strengthens the growing recognition of NCKAP1 in both neurodevelopment and cardiac formation. It highlights the importance of genetic testing for individuals with overlapping developmental and cardiac conditions. Further research is warranted to elucidate the role of NCKAP1 in cardiac development and its contribution to CHD.

Background and Objective: Lennox-Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy characterized by multiple seizure types, distinctive electroencephalography (EEG) abnormalities, and cognitive impairment. Sleep disturbances are highly prevalent in LGS and contribute substantially to reduced quality of life. However, no comprehensive analysis has yet been conducted to systematically examine key aspects of sleep-including architecture, microstructure, sleep-disordered breathing, and circadian regulation-leaving critical knowledge gaps. To address this, we conducted a scoping review to map the current evidence on sleep abnormalities in LGS and to identify priorities for future research. Method: A scoping review was conducted following PRISMA-ScR guidelines. PubMed, Embase, Ovid, and ClinicalTrials.gov from inception to October 2025 for studies evaluating sleep parameters in individuals with LGS or mixed epilepsy cohorts with ≥50% LGS cases. Eligible designs included observational and interventional studies using polysomnography, video-EEG, actigraphy, or sleep questionnaires. Data were synthesized narratively due to heterogeneity, and methodological quality was assessed using relevant Joanna Briggs Institute (JBI) checklists. Results: After screening 1242 articles, eleven studies met inclusion criteria, spanning 1986-2025 and conducted across four continents. Most were small single-center observational studies (5-16 LGS participants) using polysomnography as the primary assessment, with others employing wearable monitoring, surface and intracranial EEG, or circadian biomarker analyses. Across studies, individuals with LGS demonstrated markedly disrupted sleep architecture-notably reduced or absent rapid eye movement (REM) sleep, fragmented non-rapid eye movement (NREM) sleep, and attenuated spindles. Microstructural analysis showed elevated cyclic alternating pattern (CAP) rates, with epileptiform discharges clustering in CAP phase A. Sleep-disordered breathing (SDB) was common, particularly in adults, and associated with tonic seizures and central apneas. Circadian rhythm dysregulation, including altered melatonin and cortisol profiles, was also reported. A feasibility study demonstrated that home-based wearable devices and sleep apnea monitors were both acceptable and practical for use in children with LGS. No interventional studies have evaluated whether addressing sleep abnormalities modifies seizure or cognitive outcomes. Interpretation: Sleep in LGS is profoundly disrupted at both macrostructural and microstructural levels. These abnormalities may exacerbate seizure burden, cognitive impairment, and SUDEP risk, representing a potentially modifiable contributor to disease severity. Larger, prospective studies integrating polysomnography, wearable monitoring, and interventional approaches are needed to clarify causal mechanisms and therapeutic potential.

Background/Objectives: Children with Developmental Coordination Disorder (DCD) frequently experience handwriting difficulties, or dysgraphia. The association between DCD and dysgraphia has long been observed and described. However, few studies have examined the acquisition and transfer of graphomotor skills in these children, i.e., their ability to learn new graphic gestures and reuse them in new tasks. The objective of this study was to evaluate the acquisition of pseudo-letters and their transfer to different types of tasks in children with DCD. Methods: Three case studies of children with DCD, with or without an associated dysgraphia, were compared to an age-matched control group. Participants learned to produce six pseudo-letters during an acquisition phase, then transferred their learning to two tasks: the first assessed the transfer of learned strokes to new pseudo-letters, and the second assessed the transfer of stroke sequences to combinations of two or three pseudo-letters. Performances were analyzed on the basis of four variables: handwritten product quality, and three measures reflecting the handwriting process, i.e., velocity, fluency, and the number of stops during writing. Results: Acquisition and transfer abilities differed depending on the presence and severity of dysgraphia. Only the presence of a severe dysgraphia associated with DCD led to a lower quality and a greater on-paper velocity than typically developing children during the learning test. As to transfer, DCD children were able to transfer their learning, even in the presence of a dysgraphia. Only in the case of the second, more distant, transfer task, the presence of a severe dysgraphia led to an increase in velocity and in fluency, and a decrease in the number of stops, in addition to the lower quality. This pattern is typical of handwriting in DCD children with dysgraphia. Conclusions: The acquisition of de novo graphomotor skills depends on the presence and severity of a dysgraphia associated with DCD, but not on the severity of other motor impairments. The further transfer of these skills is preserved in DCD children.

Background: Aorto-esophageal fistula (AEF) is a rare but life-threatening condition in children following foreign body (FB) ingestion, with button batteries (BB) being the most dangerous. These batteries involve severe tissue necrosis due to chemical and electrical reactions, often leading to fistula formation and catastrophic hemorrhage. Appropriate treatment for AEF is still undefined. Method: This report presents a novel case of AEF closure using a covered stent in a 4-year-old boy, complemented by a narrative review of 36 reported pediatric AEF cases from 1988 to 2024. Results: The review revealed that BB ingestion accounted for 67% of AEF cases, with a high mortality rate of 43%, underscoring the critical nature of this condition. Early symptoms are often nonspecific, leading to delayed diagnoses, which worsen outcomes. Computed tomography (CT) is the key imaging modality for detecting vascular complications such as AEF, while X-ray may help identify the foreign body, but is often insufficient to assess associated injuries. While surgical repair remains the mainstay of treatment, minimally invasive techniques, such as endovascular approaches, are emerging as viable options. Conclusions: This study highlights the need for heightened public awareness, safer battery designs, and prompt, multidisciplinary interventions to improve patient outcomes. Future research should focus on refining diagnostic protocols, evaluating innovative management strategies, and establishing comprehensive registries to inform evidence-based guidelines and optimize care.

Background: Preterm birth remains a major cause of neonatal morbidity and mortality, with risk shaped by interacting maternal, fetal, placental and behavioural factors. This study examined latent multidimensional risk patterns in adolescent and adult pregnancies in an Eastern European cohort.

Methods: We conducted a retrospective observational study including all non-COVID pregnant women who delivered at the County Emergency Clinical Hospital of Brăila, Romania, between 2020 and 2021. Three cohorts were analyzed: adolescent preterm mothers (Lot E; n = 54), adult preterm mothers (Lot P; n = 231) and adult term mothers (Lot M; n = 3354). Maternal, fetal, placental and behavioural indicators were coded as ordered clinical risk categories, and separate principal component analyses (PCA) with Varimax rotation were performed within each cohort.

Results: Across all three groups, PCA identified three latent dimensions that together explained approximately 66-72% of the total variance. The composition of these components differed by cohort: in adolescents, maternal complications, exogenous behaviours and obstetric-placental indicators tended to cluster; in adult preterm pregnancies, placental-obstetric and behavioural indicators formed distinct but interrelated dimensions; and in adult term pregnancies, behavioural and socio-environmental indicators were the most prominent contributors to the latent structure, with fetal outcomes forming a separate dimension.

Conclusions: Prematurity-related risk profiles were multidimensional and varied meaningfully by age and pregnancy outcome. These exploratory PCA-derived dimensions provide a data-driven framework for understanding how risk clusters across different maternal populations and may help generate hypotheses for age-specific preventive and clinical strategies. Confirmation and further validation in prospective, multicentre studies are required before clinical application.

Background: Autism spectrum disorder (ASD) and related neurodevelopmental conditions are a significant public health concern, with diagnostic delays hindering timely intervention. Traditional assessments often lead to waiting times exceeding a year. Advances in artificial intelligence (AI) and biomarker-based screening offer objective, efficient alternatives for early identification. Objective: This review synthesizes the latest evidence for AI-enabled technologies aimed at improving early ASD identification. Modalities covered include eye-tracking, acoustic analysis, video- and sensor-based behavioral screening, neuroimaging, molecular/genetic assays, electronic health record prediction, and home-based digital applications or apps. This manuscript critically evaluates their diagnostic accuracy, clinical feasibility, scalability, and implementation hurdles, while highlighting regulatory and ethical considerations. Findings: Across modalities, machine learning approaches demonstrate strong accuracy and specificity in ASD detection. Eye-tracking and voice-acoustic classifiers reliably differentiate for autistic children, while home-video analysis and Electronic Health Record (EHR)-based algorithms show promise for scalable screening. Multimodal integration significantly enhances predictive power. Several tools have received Food and Drug Administration clearance, signaling momentum for wider clinical deployment. Issues persist regarding equity, data privacy, algorithmic bias, and real-world performance. Conclusions: AI-enabled screeners and diagnostic aids have the potential to transform ASD detection and access to early intervention. Integrating these technologies into clinical workflows must safeguard equity, privacy, and clinician oversight. Ongoing longitudinal research and robust regulatory frameworks are essential to ensure these advances benefit diverse populations and deliver meaningful outcomes for children and families.

Aim: This qualitative study explored the fundamental characteristics of the illness experiences among adolescents living with chronic glomerular disease. Methods: A phenomenological research approach was employed. In-depth interviews were conducted between May and December 2015 with 13 adolescents aged 14-19 years who were diagnosed with chronic glomerular conditions requiring long-term monitoring and management. Results: Seven thematic clusters emerged from the data: "appearance and worsening of kidney disease symptoms," "restrictions in daily living," "unstable self-control," "changes in relationships with friends," "sensitivity about a decrease in achievements due to disease," "efforts to maintain a normal daily life," and "psychological, physical, and social strengthening." The core experience was characterized as "overcoming limitations due to chronic disease and demonstrating resilient growth." Conclusions: This study offers valuable insights into how adolescents interpret, cope with, and adapt to chronic renal conditions in their daily lives. The findings underscore the need for developmentally appropriate, interdisciplinary care strategies that include structured psychosocial and educational support to promote resilience and improve quality of life in this population.

Background: Cardiological conditions in adolescents can impair health-related quality of life (HRQoL), influencing physical, emotional, and social functioning. Identifying sociodemographic and psychosocial determinants is essential for targeted multidisciplinary interventions involving pediatric cardiologists, nurses, and psychologists. This study assessed HRQoL in hospitalized adolescents with cardiologic problems.

Methods: A cross-sectional study was conducted among 100 adolescents aged 11-18 years hospitalized in a pediatric cardiology ward in Poland (June-December 2022). HRQoL was measured using the validated Polish version of the KIDSCREEN-52 questionnaire. Data on demographics, family and financial situation, and pain were collected. Non-parametric tests and Spearman's correlations were applied; p < 0.05 was considered significant.

Results: The highest HRQoL scores were observed in Social Acceptance (mean 86.3 ± 17.9), while the lowest scores were found in School Environment (49.2 ± 21.4). Boys had significantly higher Physical Well-being and Self-perception scores than girls (p = 0.019, p = 0.031). Older age correlated negatively with Moods and Emotions (r = -0.216, p = 0.031) and Peer Relationships (r = -0.300, p = 0.002). Rural residence was associated with stronger family relationships (p = 0.025). A better financial status correlated with higher family relationship and financial resource scores. Pain was linked to poorer physical and emotional well-being.

Conclusions: The health-related quality of life (HRQoL) of adolescents hospitalized for cardiac conditions is mainly affected by socio-demographic factors, such as gender, age, place of residence, perceived socioeconomic status, and experiences of pain and discomfort. Girls, older adolescents, urban residents, and those reporting poorer socioeconomic conditions and pain had lower HRQoL scores in specific areas. Conversely, family structure and the presence of chronic diseases did not significantly influence HRQoL outcomes.

Carbohydrates have been the center of type 1 diabetes dietary management. Emerging evidence highlights the important effects of fat and protein in postprandial hyperglycemia, suggesting that an increase in daily fat and protein intake, combined with appropriate insulin dose adjustments, might lead to better glycemic control. It is well studied that meals containing fat or protein lead to late postprandial hyperglycemia. Studies that researched the use of these macronutrients observed the need for extended or dual wave boluses to achieve euglycemia and that no consistent improvement in HbA1c or time in range was related to higher protein or fat intake. Optimizing glycemic control in pediatric T1D requires strategies beyond carbohydrate counting. While balanced macronutrient distribution remains the main solid factor in stable glycemic profiles, more studies regarding the variety of macronutrients' formulation in optimizing glycemic control are needed.

Technology has brought about a revolution in the management of type 1 diabetes (T1D). The adoption of continuous glucose monitoring (CGM) and insulin pump therapy in the everyday life of children and adolescents with T1D is a real innovation and the most promising choice for optimizing glycemic control in this population. The incorporation of an alarm system, including notifications, alerts and alarms and warning patients and their parents about glucose levels and upcoming events interfering with safety, is an invaluable additional tool for better targeting euglycemia. However, in parallel with the clinical benefits of alarm systems in ameliorating metabolic control parameters, alarm fatigue was recorded as a phenomenon, negatively affecting the everyday lives of patients and their caregivers, and as a cause for rejecting or abandoning CGM or pump therapy treatment. There are a few data concerning the frequency, consequences and methods of eliminating alarm fatigue among children. As a result, we have conducted a narrative review to briefly present the basic philosophy of the existing CGM alarm systems and their positive effect on glycemic management, and focus on alarm fatigue; definition, frequency, effect on quality of life and sleep, not only of T1D pediatric patients but also of their families, and methods of elimination. Efforts to achieve a more reliable and accurate alarm system and educate on adapting personalized limits and positively interpreting them may protect the T1D pediatric population from alarm fatigue and prevent rejection or incomplete use of CGM and insulin pump as the therapeutic choice, ensuring the best glycemic control.