Sign in to use this feature.

Years

Between: -

Subjects

remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline

Journals

Article Types

Countries / Regions

Search Results (95)

Search Parameters:
Keywords = childhood neurological disorders

Order results
Result details
Results per page
Select all
Export citation of selected articles as:
17 pages, 4298 KiB  
Article
The Rapid Sense of Direction (R-SOD) Scale: A Brief Self-Report Tool to Identify Developmental Topographical Disorientation (DTD)
by Tejdeep Jaswal, Ford Burles and Giuseppe Iaria
Brain Sci. 2025, 15(6), 622; https://doi.org/10.3390/brainsci15060622 - 9 Jun 2025
Viewed by 717
Abstract
Background/Objectives: Developmental Topographical Disorientation (DTD) refers to a condition in which individuals report getting lost in very familiar surroundings, since childhood, with no other cognitive complaints, and no brain injuries or neurological disorders. While the cognitive and neurological mechanisms underlying DTD are being [...] Read more.
Background/Objectives: Developmental Topographical Disorientation (DTD) refers to a condition in which individuals report getting lost in very familiar surroundings, since childhood, with no other cognitive complaints, and no brain injuries or neurological disorders. While the cognitive and neurological mechanisms underlying DTD are being investigated, to date, there is no tool available to the public and health practitioners for identifying this lifelong condition. Methods: Here, we used a decade of data (N = 3794) collected in healthy and DTD individuals to produce a short and reliable measure of self-reported sense of direction that could point to the presence of DTD. Results: We adopted a measure of internal consistency (Cronbach’s alpha) and identified four items of the well-known Santa Barbara Sense of Direction (SBSOD) Scale that retain its original strong internal consistency. These four items remain sensitive to the well-known effects of sex on spatial orientation and, importantly, to the presence of DTD, while maintaining the same pattern of association with a cognitive battery of computerized tasks measuring different spatial abilities. Conclusions: This four-item measure could be of practical use to obtain a rapid assessment of an individual’s self-reported sense of direction and help to identify the presence of DTD in the general population. Full article
(This article belongs to the Section Sensory and Motor Neuroscience)
Show Figures

Figure 1

16 pages, 218 KiB  
Article
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study
by Hilmi Tozkir, Semih Asikovali, Esra Bozgeyik and Gurkan Gurbuz
Genes 2025, 16(6), 624; https://doi.org/10.3390/genes16060624 - 24 May 2025
Viewed by 643
Abstract
Objective: Epilepsy, a common neurological disorder marked by recurrent seizures often starting in childhood, has a complex etiology. Advances in high-throughput sequencing now confirm that 70–80% of cases have a genetic basis. Accordingly, this study aims to evaluate the clinical relevance of genetic [...] Read more.
Objective: Epilepsy, a common neurological disorder marked by recurrent seizures often starting in childhood, has a complex etiology. Advances in high-throughput sequencing now confirm that 70–80% of cases have a genetic basis. Accordingly, this study aims to evaluate the clinical relevance of genetic variations detected through epilepsy panels and whole exome sequencing (WES) in pediatric-onset epilepsy patients. Methods: For this study, we enrolled a cohort of pediatric patients involving 205 subjects with a preliminary diagnosis of epilepsy. Targeted next-generation sequencing panels for epilepsy and whole exome sequencing was performed using the NextSeq 500 platform. The results were analyzed with the QIAGEN Clinical Insight bioinformatic platform and were further confirmed and approved by the Human Genome Mutation Database and ClinVar databases. Results: In this study, an epilepsy panel was conducted in 138 patients, and whole exome sequencing was performed in 67 patients. No clinically relevant variants were identified in 29 (21.0%) patients who underwent the epilepsy panel and 27 (40.3%) patients who underwent WES. Variants were detected in 128 different genes in the epilepsy panel group and in 54 different genes in the WES group, with the frequency of these variants limited to one or two patients. Significance: In both the epilepsy panel and WES groups, variants in sodium channel proteins, specifically in the SCN1A, SCN8A, and SCN9A genes, were found to have a high frequency. Collectively, these findings suggest that sodium channel proteins may play an important role in epilepsy. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
23 pages, 418 KiB  
Systematic Review
Understanding Glycogen Storage Disease Type IX: A Systematic Review with Clinical Focus—Why It Is Not Benign and Requires Vigilance
by Egidio Candela, Giulia Montanari, Andrea Zanaroli, Federico Baronio, Rita Ortolano, Giacomo Biasucci and Marcello Lanari
Genes 2025, 16(5), 584; https://doi.org/10.3390/genes16050584 - 15 May 2025
Viewed by 1122
Abstract
Background/Objectives: Glycogen storage disease type IX (GSD IX) is a group of inherited metabolic disorders caused by phosphorylase kinase deficiency affecting the liver or muscle. Despite being relatively common among GSDs, GSD IX remains underexplored. Methods: A systematic review of GSD IX was [...] Read more.
Background/Objectives: Glycogen storage disease type IX (GSD IX) is a group of inherited metabolic disorders caused by phosphorylase kinase deficiency affecting the liver or muscle. Despite being relatively common among GSDs, GSD IX remains underexplored. Methods: A systematic review of GSD IX was conducted per PRISMA guidelines using SCOPUS and PubMed, registered with PROSPERO. Inclusion focused on human clinical studies published up to 31 December 2024. Results: A total of 400 patients with GSD IX were analyzed: 274 IXa (mean age at diagnosis 5.1 years), 72 IXc (mean age at diagnosis 4.9 years), 39 IXb (mean age at diagnosis 4.2 years), and 15 IXd (mean age at diagnosis 44.9 years). Hepatomegaly was commonly reported in types IXa, IXb, and especially IXc (91.7%), but was rare in IXd. Elevated transaminases were frequently observed in types IXa, IXb, and particularly IXc, while uncommon in IXd. Fasting hypoglycemia was occasionally observed in types IXa and IXb, more frequently in IXc (52.7%), and was not reported in IXd. Growth delay or short stature was observed in a substantial proportion of patients with types IXa (43.8%), IXb, and IXc, but was rare in IXd. Muscle involvement was prominent in IXd, with all patients showing elevated CPK (mean 1011 U/L). Neurological involvement was infrequently reported in types IXa and IXc. Conclusions: This systematic review includes the most extensive clinical case history of GSD IX described in the literature. The clinical spectrum of GSD IX varies widely among subtypes, with IXc being the most aggressive. While liver forms are generally present in early childhood, muscle-type IXd shows delayed onset and milder symptoms, often leading to diagnostic delays. For diagnosis, it is essential not to underestimate key clinical features such as hepatic involvement and hypoglycemia in a child under 5 years of age. Other manifestations, including the as-yet unexplored systemic involvement of bone and kidney, remain insufficiently understood and require further investigation. Next-generation sequencing has improved diagnostic precision over traditional biopsy. Dietary management, including uncooked cornstarch, Glycosade®, and high-protein intake, remains the cornerstone of treatment. However, there is a paucity of well-designed, evidence-based studies to determine the most effective therapeutic approach. Despite its historically perceived benign course, the broad phenotypic variability of GSD IX, including progressive liver involvement and potential neurological complications, highlights its substantial clinical relevance and underscores the need for accurate diagnostic classification and long-term multidisciplinary follow-up. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
Show Figures

Figure 1

9 pages, 813 KiB  
Article
Sleep Habits and Disorders in School-Aged Children: A Cross-Sectional Study Based on Parental Questionnaires
by Luca Mezzofranco, Ludovica Agostini, Ayoub Boutarbouche, Sofia Melato, Francesca Zalunardo, Anna Franco and Antonio Gracco
Children 2025, 12(4), 489; https://doi.org/10.3390/children12040489 - 10 Apr 2025
Cited by 1 | Viewed by 722
Abstract
Sleep is a crucial physiological process for cognitive, emotional, and physical development during childhood. Despite its importance, a significant percentage of school-aged children experience sleep disturbances, which can impact academic performance and overall well-being. This cross-sectional study aims to investigate sleep habits and [...] Read more.
Sleep is a crucial physiological process for cognitive, emotional, and physical development during childhood. Despite its importance, a significant percentage of school-aged children experience sleep disturbances, which can impact academic performance and overall well-being. This cross-sectional study aims to investigate sleep habits and disorders in children aged 6–13 years, identifying issues such as difficulties falling asleep, frequent awakenings, and parasomnias, as well as their correlations with daytime consequences. Methods: A structured questionnaire, based on the Sleep Disturbance Scale for Children (SDSC), was administered to 100 parents of school-aged children. The sample included participants without diagnosed neurological disorders, neurodevelopmental disorders, or chronic illnesses interfering with sleep. The data were statistically analyzed to assess the frequency and severity of sleep disturbances and their correlations with daytime symptoms. Results: Although most children (44.1%) slept 8–9 h per night, 32.4% exhibited bedtime resistance, and 29.4% had difficulty falling asleep. Common sleep disturbances included occasional snoring (44.1%), bruxism (11.8%), morning fatigue (41.2%), and daytime sleepiness (15.2%). Additionally, 23.5% of the children experienced confusion upon waking. The analysis also revealed a correlation between sleep fragmentation and mood alterations or cognitive difficulties. Conclusions: The study confirms the high prevalence of sleep disorders in pediatric populations, emphasizing the need for routine screening during clinical check-ups. Educational interventions on sleep hygiene practices—such as reducing evening screen exposure—and school policies that align with pediatric circadian rhythms could mitigate negative effects. The lack of objective measures such as actigraphy and polysomnography is a limitation, highlighting the need for integrated approaches in future studies. A multidisciplinary approach is essential to optimizing sleep health and overall child development. Full article
(This article belongs to the Section Pediatric Pulmonary and Sleep Medicine)
Show Figures

Figure 1

14 pages, 6675 KiB  
Article
Linking Kawasaki Disease to Mental Health: A Nationwide Study on Long-Term Neurological Risks
by Ji-Ho Lee, Taewoo Shin, Jung-Min Park and Jae-Hee Seol
Medicina 2025, 61(4), 604; https://doi.org/10.3390/medicina61040604 - 26 Mar 2025
Viewed by 699
Abstract
Background and Objectives: Kawasaki disease (KD) is a childhood systematic vasculitis. Emerging evidence suggests a link between KD and long-term neurological implications. This study examines the association between KD and subsequent neuropsychiatric and neurodevelopmental disorders using national health data from South Korea. [...] Read more.
Background and Objectives: Kawasaki disease (KD) is a childhood systematic vasculitis. Emerging evidence suggests a link between KD and long-term neurological implications. This study examines the association between KD and subsequent neuropsychiatric and neurodevelopmental disorders using national health data from South Korea. Materials and Methods: Using the National Health Information Database, we identified KD patients diagnosed between 2002 and 2021 and selected those born between 2008 and 2015. Propensity score matching with a 1:4 ratio was applied to create a control group. The incidence of neuropsychiatric and neurodevelopmental disorders from 2017 to 2021 was analyzed using Cox proportional hazard models, adjusting for age, sex, and urbanicity. Results: This study included 41,806 KD subjects and 163,829 matched controls. KD was associated with an increased risk of certain neuropsychiatric disorders: anxiety disorder (HR: 1.124, 1.047–1.207), sleep-related disorder (HR: 1.257, 1.094–1.444), movement disorder (HR: 1.227, 1.030–1.461), and any neuropsychiatric disorder (HR: 1.102, 1.053–1.153). For neurodevelopmental disorders, KD patients showed a lower incidence of intellectual disability (HR: 0.747, 0.641–0.871) but an increased risk of tic disorder (HR: 1.148, 1.020–1.292). Male gender and urban residency were associated with higher incidence rates for certain conditions. Conclusions: This study demonstrates that KD patients show increased risks for anxiety, sleep-related disorder, movement disorder, and tic disorder, a reduced incidence of intellectual disability, and a higher risk of tic disorder. These findings highlight the need for long-term neurological monitoring in KD patients and provide insights into its potential neurodevelopmental impact. Full article
(This article belongs to the Section Pediatrics)
Show Figures

Figure 1

27 pages, 666 KiB  
Review
Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments
by Giuseppe Magro, Vincenzo Laterza and Federico Tosto
Biomedicines 2025, 13(3), 733; https://doi.org/10.3390/biomedicines13030733 - 17 Mar 2025
Cited by 2 | Viewed by 3844
Abstract
Leigh syndrome (LS) is a severe neurodegenerative condition with an early onset, typically during early childhood or infancy. The disorder exhibits substantial clinical and genetic diversity. From a clinical standpoint, Leigh syndrome showcases a broad range of irregularities, ranging from severe neurological issues [...] Read more.
Leigh syndrome (LS) is a severe neurodegenerative condition with an early onset, typically during early childhood or infancy. The disorder exhibits substantial clinical and genetic diversity. From a clinical standpoint, Leigh syndrome showcases a broad range of irregularities, ranging from severe neurological issues to minimal or no discernible abnormalities. The central nervous system is most affected, resulting in psychomotor retardation, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure. Some patients also experience involvement of the peripheral nervous system, such as polyneuropathy or myopathy, as well as non-neurological anomalies, such as diabetes, short stature, hypertrichosis, cardiomyopathy, anemia, renal failure, vomiting, or diarrhea (Leigh-like syndrome). Mutations associated with Leigh syndrome impact genes in both the mitochondrial and nuclear genomes. Presently, LS remains without a cure and shows limited response to various treatments, although certain case reports suggest potential improvement with supplements. Ongoing preclinical studies are actively exploring new treatment approaches. This review comprehensively outlines the genetic underpinnings of LS, its current treatment methods, and preclinical investigations, with a particular focus on treatment. Full article
(This article belongs to the Special Issue Progress in Neurodevelopmental Disorders Research)
Show Figures

Figure 1

33 pages, 474 KiB  
Review
Current Trends in Pediatric Migraine: Clinical Insights and Therapeutic Strategies
by Adnan Khan, Sufang Liu and Feng Tao
Brain Sci. 2025, 15(3), 280; https://doi.org/10.3390/brainsci15030280 - 6 Mar 2025
Cited by 2 | Viewed by 4052
Abstract
Background/Objectives: Pediatric migraine is a prevalent neurological disorder that significantly impacts children’s quality of life, academic performance, and social interactions. Unlike migraines in adults, pediatric migraines often present differently and involve unique underlying mechanisms, making diagnosis and treatment more complex. Methods: This review [...] Read more.
Background/Objectives: Pediatric migraine is a prevalent neurological disorder that significantly impacts children’s quality of life, academic performance, and social interactions. Unlike migraines in adults, pediatric migraines often present differently and involve unique underlying mechanisms, making diagnosis and treatment more complex. Methods: This review discusses the clinical phases of pediatric migraine, key trigger factors, sex- and age-related differences, and the role of childhood maltreatment in migraine development. We also discuss episodic syndromes such as cyclic vomiting syndrome, abdominal migraine, benign paroxysmal vertigo, and benign paroxysmal torticollis, along with comorbidities such as psychiatric disorders, sleep disturbances, and epilepsy. Results: The underlying pathophysiological mechanisms for pediatric migraines, including genetic predispositions, neuroinflammation, and gut microbiota dysbiosis, are summarized. Current therapeutic strategies, including conventional and emerging pharmacological treatments, nutraceuticals, and non-pharmacological approaches, are evaluated. Non-pharmacological strategies, particularly evidence-based lifestyle interventions such as stress management, diet, hydration, sleep, exercise, screen time moderation, and cognitive behavioral therapy, are highlighted as key components of migraine prevention and management. The long-term prognosis and follow-up of pediatric migraine patients are reviewed, emphasizing the importance of early diagnosis, and tailored multidisciplinary care to prevent chronic progression. Conclusions: Future research should focus on novel therapeutic targets and integrating gut–brain axis modulation, with a need for longitudinal studies to better understand the long-term course of pediatric migraine. Full article
(This article belongs to the Section Sensory and Motor Neuroscience)
11 pages, 462 KiB  
Article
Demographic, Premorbid, and Clinical Characteristics of Schizophrenia Spectrum Patients with High and Low Polygenic Liability to the Disorder
by Margarita Alfimova, Marina Gabaeva, Tatyana Lezheiko, Victoria Plakunova, Yulia Chaika and Vera Golimbet
Diseases 2025, 13(3), 66; https://doi.org/10.3390/diseases13030066 - 21 Feb 2025
Cited by 1 | Viewed by 576
Abstract
Background/Objectives: Schizophrenia is a clinically heterogeneous complex disorder with a substantial polygenic basis. The discovery of phenotypes indexing genetic differences advances research into the schizophrenia etiology but has proven to be challenging. The study aimed to further clarify the relationships of schizophrenia polygenic [...] Read more.
Background/Objectives: Schizophrenia is a clinically heterogeneous complex disorder with a substantial polygenic basis. The discovery of phenotypes indexing genetic differences advances research into the schizophrenia etiology but has proven to be challenging. The study aimed to further clarify the relationships of schizophrenia polygenic risk scores (SZ-PRSs) with a comprehensive array of schizophrenia antecedents and presentations using a culturally and ethnically homogeneous sample of schizophrenia spectrum patients. Methods: The top and bottom deciles (n = 172) of the SZ-PRS distribution in a group of 861 patients were compared on information derived from medical records using logistic regression. Results: High SZ-PRSs were associated with female sex, family history of a wide range of neuropsychiatric conditions, moderately poor premorbid social and cognitive adjustment in childhood, the schizophrenia diagnosis, and positive and “abnormal” psychomotor symptoms. The low-SZ-PRS group demonstrated an accumulation of both individuals with milder forms of SZ spectrum disorders and those with severe premorbid abnormalities in the social, cognitive, and neurological domains. Conclusions: The results highlight moderately poor premorbid social and cognitive adjustment as characteristic manifestations of the polygenic component of the schizophrenia etiology and provide the first piece of PRS-based evidence for the long-standing idea of a higher liability threshold in women. The presence of milder and severe cases in the bottom SZ-PRS decile, suggesting its etiological heterogeneity, might be an important source of the inconsistency in the previous research on SZ-PRSs’ relationship with schizophrenia phenotypes and should be considered in future studies. Full article
(This article belongs to the Section Neuro-psychiatric Disorders)
Show Figures

Figure 1

12 pages, 2145 KiB  
Case Report
Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia
by Jacopo Sartorelli, Maria Grazia Pomponi, Giacomo Garone, Gessica Vasco, Francesca Cumbo, Vito Luigi Colona, Adele D’Amico, Enrico Bertini and Francesco Nicita
Brain Sci. 2025, 15(2), 156; https://doi.org/10.3390/brainsci15020156 - 4 Feb 2025
Viewed by 1854
Abstract
Background: Childhood-onset progressive ataxias are rare neurodegenerative disorders characterized by cerebellar signs, sometimes associated with other neurological or extra-neurological features. The autosomal dominant forms, known as spinocerebellar ataxias (SCAs), linked to trinucleotide (i.e., CAG) repeat disorders, are ultra-rare in children. We describe [...] Read more.
Background: Childhood-onset progressive ataxias are rare neurodegenerative disorders characterized by cerebellar signs, sometimes associated with other neurological or extra-neurological features. The autosomal dominant forms, known as spinocerebellar ataxias (SCAs), linked to trinucleotide (i.e., CAG) repeat disorders, are ultra-rare in children. We describe three patients from two unrelated families affected by spinocerebellar ataxia type 2 (SCA2) and present a literature review of pediatric cases. Methods: The patients’ clinical and genetic data were collected retrospectively. Results: The first case was a 9.5-year-old boy, affected by ataxia with oculomotor apraxia and cerebellar atrophy, subcortical myoclonus, and peripheral axonal sensitive polyneuropathy caused by a pathologic expansion in ATXN2, inherited from his asymptomatic father. Two brothers with familial SCA2 presented neurodegeneration leading to early death in one case and progressive ataxia, parkinsonism, and epilepsy with preserved ambulation at age 18 years in the second. To date, 19 pediatric patients affected by SCA2 have been reported, 3 of whom had a phenotype consistent with progressive ataxia with shorter CAG repeats, while 16 had more severe early-onset encephalopathy, with longer alleles. Conclusions: Although they are ultra-rare, trinucleotide repeat disorders must be considered in differential diagnosis of hereditary progressive ataxias in children, especially considering that they require targeted genetic testing and can manifest even before a parental carrier becomes symptomatic. Thus, they must also be taken into account with negative family history and when Next-Generation Sequencing (NGS) results are inconclusive. Notably, the association between cerebellar ataxia and other movement disorders should raise suspicion of SCA2 among differential diagnoses. Full article
(This article belongs to the Section Neurodegenerative Diseases)
Show Figures

Figure 1

24 pages, 620 KiB  
Systematic Review
Dysphagia in Rare Diseases and Syndromes: Current Approaches to Management and Therapeutic Innovations—A Systematic Review
by Soultana Papadopoulou, Areti Anagnostopouplou, Dimitra V. Katsarou, Kalliopi Megari, Efthymia Efthymiou, Alexandros Argyriadis, Georgios Kougioumtzis, Maria Theodoratou, Maria Sofologi, Agathi Argyriadi, Efterpi Pavlidou and Eugenia I. Toki
Healthcare 2025, 13(1), 52; https://doi.org/10.3390/healthcare13010052 - 30 Dec 2024
Cited by 1 | Viewed by 3400
Abstract
Background: This study presents a comprehensive investigation into the correlation between Rare Diseases and Syndromes (RDS) and the dysphagic disorders manifested during childhood and adulthood in affected patients. Dysphagia is characterized by difficulty or an inability to swallow food of any consistency, as [...] Read more.
Background: This study presents a comprehensive investigation into the correlation between Rare Diseases and Syndromes (RDS) and the dysphagic disorders manifested during childhood and adulthood in affected patients. Dysphagia is characterized by difficulty or an inability to swallow food of any consistency, as well as saliva or medications, from the oral cavity to the stomach. RDS often present with complex and heterogeneous clinical manifestations, making it challenging to develop standardized diagnostic and therapeutic approaches. Dysphagia can arise from various etiologies, including those related to the central nervous system, inflammatory and neoplastic processes, anatomical or structural disorders, and neuromuscular conditions. These diverse etiologies can result in both structural and functional deficits or neurological impairments that compromise swallowing function. While RDS frequently leads to uncommon conditions, dysphagia remains an underrecognized complication. Objectives: The primary objective of this review is to illuminate the latest knowledge concerning the management of dysphagia in both pediatric and adult populations within the context of RDS, with a particular focus on current therapeutic approaches. To achieve this, the study provides a comprehensive analysis of existing strategies for managing dysphagia in RDS, highlighting recent advancements in therapy while identifying critical gaps in clinical knowledge and practice. By synthesizing available evidence, the review aims to deepen understanding of the unique challenges associated with dysphagia in these conditions and explore innovative interventions to enhance patient care and outcomes. Results: The integration of innovative therapeutic techniques into the speech-language pathology treatment of dysphagia augments traditional strategies, offering updated knowledge that can be applied to prognosis and therapeutic interventions across various ages and racial groups. This review also provides an overview of symptomatology, assessment techniques, and the specific characteristics of dysphagia associated with various genetic and acquired RDS. Full article
Show Figures

Figure 1

11 pages, 825 KiB  
Article
Assessment of Iron Metabolism and Inflammation in Children with Cerebral Palsy
by Ozhan Orhan and Gul Sahika Gokdemir
J. Clin. Med. 2025, 14(1), 61; https://doi.org/10.3390/jcm14010061 - 26 Dec 2024
Cited by 1 | Viewed by 1273
Abstract
Background/Objectives: Cerebral palsy (CP) is a motor disorder resulting from brain damage that is common in childhood. Iron is vital for the body’s basic functions. Iron metabolism disorders and inflammation contribute to the neurological complications seen in CP. The purpose of this research [...] Read more.
Background/Objectives: Cerebral palsy (CP) is a motor disorder resulting from brain damage that is common in childhood. Iron is vital for the body’s basic functions. Iron metabolism disorders and inflammation contribute to the neurological complications seen in CP. The purpose of this research was to ascertain the association and correlation between markers of inflammation and iron metabolism in children with CP. Methods: A total of 181 children diagnosed with CP and 111 typically developing children were retrospectively included in the study. Demographic data, blood parameters, C-reactive protein, iron, total iron binding capacity, and inflammation markers were evaluated. Results: C-reactive protein (CRP), neutrophil-to-lymphocyte ratio (NLR) and systemic immuno-inflammatory index (SII) levels of CP children were found to be statistically significantly higher than those of control group children (p < 0.05). Iron (Fe) and ferritin levels were lower in the CP group, while total iron binding capacity (TIBC) was higher. Spearman correlation analysis showed significant correlations between iron, ferritin and TIBC and SII. Conclusions: Iron deficiency and chronic inflammation are associated with the pathophysiology of CP in patients with CP, and therefore it is important to monitor markers of iron metabolism and inflammation in these patients. Full article
(This article belongs to the Section Clinical Pediatrics)
Show Figures

Figure 1

30 pages, 2451 KiB  
Review
Animal Models of Febrile Seizures: Limitations and Recent Advances in the Field
by Alexandra V. Griflyuk, Tatyana Y. Postnikova and Aleksey V. Zaitsev
Cells 2024, 13(22), 1895; https://doi.org/10.3390/cells13221895 - 16 Nov 2024
Cited by 5 | Viewed by 1779
Abstract
Febrile seizures (FSs) are defined as seizures occurring in children aged 6 months to 5 years with a background of elevated body temperature. It is one of the most common neurological disorders of childhood, emphasizing the importance of understanding the causes of FSs [...] Read more.
Febrile seizures (FSs) are defined as seizures occurring in children aged 6 months to 5 years with a background of elevated body temperature. It is one of the most common neurological disorders of childhood, emphasizing the importance of understanding the causes of FSs and their impact on the developing nervous system. However, there are significant limitations to the technologies currently available for studying the etiology and pathophysiology of seizures in humans. It is currently not possible to adequately capture the subtle molecular and structural rearrangements of the nervous system that can occur after seizures in humans. The use of animal models can be invaluable for these purposes. The most commonly used models in modern research are hyperthermic models in rats and mice aged 10–12 days. While these models can reproduce many of the characteristics of FSs, they have certain limitations. This review outlines the key considerations when working with models of FSs, provides an overview of current approaches to producing seizures in different model subjects, and presents a summary of key findings regarding morphological and functional changes in the brain and behavioral alterations that have been identified in studies using animal models of FSs. Full article
Show Figures

Figure 1

14 pages, 801 KiB  
Article
Thriving Beyond Adversity: A Prospective Longitudinal Cohort Study Using a Strength-Based Approach Depicts Indigenous Adolescents with Less Adverse Childhood Experiences (ACEs) Had Fewer Neurodevelopmental Disorders (NDDs)
by Md Irteja Islam, Bernadette Yan Yue Lam, Tuguy Esgin and Alexandra Martiniuk
Behav. Sci. 2024, 14(11), 1047; https://doi.org/10.3390/bs14111047 - 5 Nov 2024
Cited by 2 | Viewed by 1963
Abstract
Improving social and emotional well-being (SEWB) among Indigenous adolescents is crucial. Since neurodevelopmental disorders (NDDs) are common in Indigenous people and adverse childhood experiences (ACEs) are important contributors to negative health outcomes throughout the lifespan, we investigated whether limited ACE exposure is associated [...] Read more.
Improving social and emotional well-being (SEWB) among Indigenous adolescents is crucial. Since neurodevelopmental disorders (NDDs) are common in Indigenous people and adverse childhood experiences (ACEs) are important contributors to negative health outcomes throughout the lifespan, we investigated whether limited ACE exposure is associated with reduced risk of NDDs in Australian Indigenous teens using the data from multiple waves (Wave 1 to Wave 9, and Wave 11) of the Longitudinal Study of Indigenous Children (LSIC). We also examined the role of other protective factors, such as Indigenous cultural identity and school connectedness, against NDDs. A strengths-based approach using mixed-effects logistic regression models examined the protective effect of limited ACE exposure (from LSIC waves 1–9) on NDDs (outcome from LSIC wave 11), adjusting for sociodemographic factors. The NDDs included autism, ADHD, intellectual, neurological, and specific learning disabilities. Of the 370 individuals analysed, 73.2% valued Indigenous cultural identity, and 70.5% were strongly connected at school. More than one-fourth (27.8%) reported limited ACE exposure, while the majority was not diagnosed with NDDs (93%). Longitudinal analysis revealed limited ACE exposure was 6.01 times (95% CI: 1.26–28.61; p = 0.024) more likely to be protective against NDDs compared to those exposed to multiple ACEs. Moreover, valuing cultural identity (aOR = 2.81; 95% CI: 1.06–7.39; p = 0.038) and girls (aOR = 13.88; 95% CI: 3.06–62.84; p = 0.001) were protective against NDDs compared to their respective counterparts. Our findings highlight the need to prevent ACE exposure and promote Indigenous cultural identity in preventing negative health outcomes and the exacerbation of health inequities to strengthen the SEWB of Indigenous communities. Full article
(This article belongs to the Section Developmental Psychology)
Show Figures

Figure 1

16 pages, 896 KiB  
Article
Preliminary Evidence for Neuronal Dysfunction Following Adverse Childhood Experiences: An Investigation of Salivary MicroRNA Within a High-Risk Youth Sample
by Adam T. Schmidt, Steven D. Hicks, Becca K. Bergquist, Kelsey A. Maloney, Victoria E. Dennis and Alexandra C. Bammel
Genes 2024, 15(11), 1433; https://doi.org/10.3390/genes15111433 - 4 Nov 2024
Cited by 2 | Viewed by 1536
Abstract
Background/Objectives: Adverse childhood experiences (ACEs) are potent drivers of psychopathology and neurological disorders, especially within minoritized populations. Nonetheless, we lack a coherent understanding of the neuronal mechanisms through which ACEs impact gene expression and, thereby, the development of psychopathology. Methods: This [...] Read more.
Background/Objectives: Adverse childhood experiences (ACEs) are potent drivers of psychopathology and neurological disorders, especially within minoritized populations. Nonetheless, we lack a coherent understanding of the neuronal mechanisms through which ACEs impact gene expression and, thereby, the development of psychopathology. Methods: This observational pilot study used a novel marker of neuronal functioning (brain-derived micro ribonucleic acids, or miRNAs) collected via saliva to explore the connection between ACEs and neuronal gene expression in 45 adolescents with a collectively high ACE exposure (26 males and 19 females of diverse races/ethnicities, with six cumulative ACEs on average). We aimed to determine the feasibility of using salivary microRNA for probing neuronal gene expression with the goal of identifying cellular processes and genetic pathways perturbed by childhood adversity. Results: A total of 274 miRNAs exhibited reliable salivary expression (raw counts > 10 in > 10% of samples). Fourteen (5.1%) were associated with cumulative ACE exposure (p < 0.05; r’s ≥ 0.31). ACE exposure correlated negatively with miR-92b-3p, 145a-5p, 31-5p, and 3065-5p, and positively with miR-15b-5p, 30b-5p, 30c-5p, 30e-3p, 199a-3p, 223-3p, 338-3p, 338-5p, 542-3p, and 582-5p. Most relations remained significant after controlling for multiple comparisons and potential retrospective bias in ACE reporting for miRNAs with particularly strong relations (p < 0.03). We examined KEGG pathways targeted by miRNAs associated with total ACE scores. Results indicated putative miRNA targets over-represented 47 KEGG pathways (adjusted p < 0.05) involved in neuronal signaling, brain development, and neuroinflammation. Conclusions: Although preliminary and with a small sample, the findings represent a novel contribution to the understanding of how childhood adversity impacts neuronal gene expression via miRNA signaling. Full article
(This article belongs to the Special Issue Genetic Variability of Regulatory RNAs)
Show Figures

Figure 1

17 pages, 3230 KiB  
Article
Chemical Composition of Clay Soil Analysis and Potential Health Risks: Experimental Study in Tshwane District, Gauteng Province
by Mohora Feida Malebatja, Moreoagae Bertha Randa, Mathildah Mpata Mokgatle and Oluwafemi Omoniyi Oguntibeju
Appl. Sci. 2024, 14(19), 9152; https://doi.org/10.3390/app14199152 - 9 Oct 2024
Cited by 1 | Viewed by 2315
Abstract
The practise of geophagy is common amongst women of childbearing age from different geographic locations, including South Africa, regardless of their social and economic status such as their level of education, race, marital status, income or occupation. This study aimed to examine the [...] Read more.
The practise of geophagy is common amongst women of childbearing age from different geographic locations, including South Africa, regardless of their social and economic status such as their level of education, race, marital status, income or occupation. This study aimed to examine the women of childbearing age in Tshwane District, Gauteng Province, South Africa. An experimental study was conducted at the laboratory to examine the chemical composition of clay soil ingested by geophagic women of childbearing age. Thirty-nine clay soil samples were collected from study participants attending antenatal care services and family planning at public healthcare facilities of Tshwane District, Gauteng Province, and subjected to geochemical analysis. The concentrations of vanadium, manganese, chromium, and barium were detected in quantities exceeding 100 mg/kg in almost all samples. Cadmium, mercury and silver were detected in low concentrations below 1 mg/kg in all samples. The practice of geophagy amongst women of childbearing age has been reported to be associated with detrimental health outcomes and risks such as iron deficiency anaemia, constipation, shortness of breath, maternal and childhood mortalities and morbidities, neurological and central nervous system disorder, death, appendicitis, cancers, teratogenic risks, and ulcers. The chemical composition of clay soil eaten by geophagic women of childbearing age contains potentially harmful substances, thus the practise of geophagy is toxic and should be discouraged to protect public health. Full article
Show Figures

Figure 1

Back to TopTop