Int. J. Dev. Neurosci. [JOURNAL]
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200 papers
Serum Levels of Nitric Oxide, SIRT1, MMP-9 and Telomerase in Children With Cognitive Disengagement Syndrome.
Çeltik SÖ, Önder A, Akdağ B … +7 more , Akbaş SH, Öztürk B, Gül ME, Bütün MF, Yazıcı Kopuz H, Çoban ÖG, Sürer Adanır A
Int J Dev Neurosci · 2025 Jun · PMID 40452502 · Publisher ↗
This study aimed to evaluate serum levels of matrix metalloproteinase-9 (MMP-9), telomerase, sirtuin-1 (SIRT1) and nitric oxide (NO) in children diagnosed with cognitive disengagement syndrome (CDS). The sample included...
This study aimed to evaluate serum levels of matrix metalloproteinase-9 (MMP-9), telomerase, sirtuin-1 (SIRT1) and nitric oxide (NO) in children diagnosed with cognitive disengagement syndrome (CDS). The sample included 22 children with 'pure' CDS and 42 healthy controls. Our findings indicated that serum levels of telomerase and SIRT1 were significantly elevated in the CDS group compared to the control group, while levels of MMP-9 and NO were significantly reduced. When adjusting for age and gender, the presence of CDS significantly predicted higher serum telomerase levels and lower serum MMP-9 and NO levels. However, it was not a significant predictor of serum levels of SIRT1. Additionally, the serum levels of telomerase and SIRT1 were positively related to the severity of daydreaming symptoms in the CDS group but not to sluggishness. This investigation is the first to explore serum levels of MMP-9, SIRT1, telomerase and NO in children with CDS. The results suggest that these biomarkers may serve as potential tools for diagnosing and monitoring CDS. Additional research is required to elucidate the relationship of these biomarkers to specific CDS symptoms, such as daydreaming and sluggishness.
A Novel Homozygous Frameshift Variant of SACS Gene in the Turkish Siblings With Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).
Cokyaman T, Saltik ZA, Turan NE
Int J Dev Neurosci · 2025 May · PMID 40396211 · Publisher ↗
Pathogenic variants of sacsin (SACS) gene cause autosomal recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS). It is a hereditary neurological disorder manifested with gait ataxia, intentional tremor, lower limb pyr...
Pathogenic variants of sacsin (SACS) gene cause autosomal recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS). It is a hereditary neurological disorder manifested with gait ataxia, intentional tremor, lower limb pyramidal signs and pes cavus. It was originally described in the late 1970s and has a high prevalence in northeastern Quebec, Canada. Here, we present for the first time a new SACS frameshift variant in two Turkish siblings. We detected a new homozygous frameshift variant of the SACS gene in the Turkish siblings diagnosed with ARSACS for the first time.
Uncrossed Cerebellar Diaschisis in Hemimegalencephaly: Evaluated by FDG-PET and Diffusion Tensor Tractography.
Kagaya R, Maki H, Matsuda H … +8 more , Kan H, Kimura Y, Shigemoto Y, Imokawa T, Iijima K, Iwasaki M, Nakagawa E, Sato N
Int J Dev Neurosci · 2025 May · PMID 40344425 · Publisher ↗
BACKGROUND: This study aimed to assess cerebrocerebellar connectivity in patients with hemimegalencephaly (HME) using F-fluorodeoxyglucose positron emission tomography (FDG-PET) and diffusion tensor imaging (DTI), as unc...
BACKGROUND: This study aimed to assess cerebrocerebellar connectivity in patients with hemimegalencephaly (HME) using F-fluorodeoxyglucose positron emission tomography (FDG-PET) and diffusion tensor imaging (DTI), as uncrossed cerebellar diaschisis is often observed in patients with HME. METHODS: Thirty-one patients with HME underwent FDG-PET and magnetic resonance imaging. Cerebellar and cerebral cortical uptake was measured using FDG-PET, and the cerebellar diaschisis index was calculated. Fractional anisotropy (FA) values for crossed and uncrossed cortico-ponto-cerebellar (CPC) fibres were obtained via DTI. Correlation between the cerebellar diaschisis index and FA values, seizure onset, frequency and developmental quotient scores were analysed. RESULTS: Uncrossed cerebellar diaschisis was present in 68% of patients, whereas crossed diaschisis was identified in 32% of patients. A significant positive correlation was found between the cerebellar diaschisis index and the FA values of uncrossed CPC fibres on HME and contralateral sides. No significant correlation was noted between the index and the FA values of crossed CPC fibres or clinical outcomes. CONCLUSION: Uncrossed CPC fibres play a more significant role in cerebrocerebellar connectivity in the HME than crossed fibres. Our results provide valuable insights into the neural fibre development in HME.
Impact of Prematurity and Neonatal Complications on the Development of Dyslexia.
López-Zamora M, Porcar-Gozalbo N, López-Chicheri I … +1 more , Cano-Villagrasa A
Int J Dev Neurosci · 2025 May · PMID 40320671 · Full text
Prematurity has been linked to an increased risk of neurodevelopmental disorders, including dyslexia, due to neonatal complications that can impact brain maturation, such as intraventricular haemorrhage, periventricular...
Prematurity has been linked to an increased risk of neurodevelopmental disorders, including dyslexia, due to neonatal complications that can impact brain maturation, such as intraventricular haemorrhage, periventricular leukomalacia and respiratory distress syndrome. This study examines the relationship between prematurity, neonatal conditions and dyslexia, using a sample of 120 participants divided into four groups: preterm children with dyslexia (G-PREDIX), preterm children without dyslexia (G-PREMA), full-term children with dyslexia (G-DISLX) and full-term children without dyslexia (G-NODISLX). Key neonatal variables such as gestational age, birth weight, APGAR scores, neonatal complications and NICU admission were analysed in relation to reading performance, assessed through standardized reading tests. Using multiple linear regression models, the study explored whether these early-life factors predict reading difficulties and dyslexia risk. The results indicate that neonatal complications and prematurity alone do not significantly predict dyslexia diagnosis, but a negative trend was observed between intraventricular haemorrhage and periventricular leukomalacia and reading comprehension and word decoding performance. These findings suggest that prematurity, in the absence of other risk factors, does not necessarily result in dyslexia, but when combined with specific neonatal conditions, it may increase the severity of reading difficulties. These results emphasize the importance of early assessment and targeted intervention programs to support the reading development of at-risk preterm children, particularly those with a history of neonatal complications.
New Phenotypes Associated With Pathogenic RNASEH2B and SAMHD1 Variants.
Abdel-Salam GMH, Eid M, El-Serafy MA … +2 more , El-Sayed H, Abdel-Hamid MS
Int J Dev Neurosci · 2025 May · PMID 40302656 · Publisher ↗
Pathogenic variants in nine genes (AGS1-9) were mainly reported in patients with Aicardi-Goutières syndrome (AGS), which is a genetic disorder of the innate immune response associated with improper induction of Type I in...
Pathogenic variants in nine genes (AGS1-9) were mainly reported in patients with Aicardi-Goutières syndrome (AGS), which is a genetic disorder of the innate immune response associated with improper induction of Type I interferon (IFN). These variants led to a broad range of clinical manifestations ranging from congenital type of AGS displaying congenital microcephaly, severe developmental delay, spasticity, basal ganglia calcification, white matter abnormalities and early lethality up to infantile or juvenile onset with a broader phenotypic spectrum of AGS with severe to mild disease, including a form of spastic paraparesis. More recently, these variants have been reported to be associated with rare extra-neurologic presentations. In this report, we present two patients with homozygous pathogenic variants in RNASEH2B (p.Ala177Thr) and SAMHD1 (p.Arg442Ter). The first patient showed persistent arthropathy livedo reticularis, intermittent fever and hepatosplenomegaly, whereas the second had late onset of muscle spasms, impaired calcium/phosphorus homeostasis, severe and progressive intracranial calcification and chilblains. The two patients had average intelligence. We believe to be the first time; an idiopathic hypoparathryroidism is associated with pathogenic variant of SAMHD1. As such, this extends the phenotypes linked to SAMHD1 (likely) pathogenic variants. We also summarize the extra-neurologic manifestations associated with AGS genes-related disorders. Thus, by facilitating early diagnosis, counselling and health surveillance of these patients are improved.
High-Frequency Oscillations in Self-Limited Epilepsy With Centrotemporal Spikes: Potential Predictors of Attention Deficit Hyperactivity Disorder?
Kart PO, Özdemir C, Kayikcioglu T … +1 more , Cansu A
Int J Dev Neurosci · 2025 May · PMID 40296857 · Publisher ↗
OBJECTIVE: The aim of this study was to examine the possible effect of HFOs detected in children with SeLECTS, who have rolandic spikes with or without ADHD, in predicting cognitive comorbidities with the fully automatic...
OBJECTIVE: The aim of this study was to examine the possible effect of HFOs detected in children with SeLECTS, who have rolandic spikes with or without ADHD, in predicting cognitive comorbidities with the fully automatic ripple detector program we developed. METHODS: A total of 40 patients diagnosed with SeLECTS with at least a 1-year follow-up were included in this study. The patients were divided into two groups: those diagnosed with SeLECTS only and those diagnosed with SeLECTS+ADHD. For ripple detection, EEG data recorded for at least 10 min during non-REM stage 2 sleep with a sampling frequency of 2000 Hz was analysed in the MATLAB environment. After the data in each channel was filtered at 80-200 Hz, ripple detection was made with the fully automatically developed ripple detector program. RESULTS: At least one ripple was detected in 29 of 40 patients (72.5%). The total number of spikes in both groups had a mean of 1435.8 ± 1626.9 (5-6183). The number of spikes in the rolandic region was found to be statistically significantly higher in the SeLECTS+ADHD group (p = 0.042). The total number of ripples in both groups was the mean: 9.5 ± 26.5 (0-158). The highest ripples count was detected in a patient in the SeLECTS+ADHD group; 158 ripples were counted, and the ripple distribution was found to be 33 ripples in the centrotemporal region and 125 ripples in the frontal region. The ripple of number (p = 0.009) and ripple ratio in the 'Fz-Cz' electrode were found to be statistically significantly higher in the SeLECTS + ADHD group (p = 0.009, p = 0.019, respectively). SIGNIFICANCE: Our study showed that the presence of interictal scalp HFOs has the effect of predicting neurocognitive comorbidities. We think that ripple analysis with the can be used as a potential biomarker to predict neurocognitive comorbidities.
Self-Esteem and Psychopathology Differentially Relate to Real-Life and Social Functioning in People With 22q11.2 Deletion Syndrome.
Accinni T, Kotzalidis GD, Irelli EC … +2 more , Pasquini M, Buzzanca A
Int J Dev Neurosci · 2025 Apr · PMID 40271837 · Full text
BACKGROUND: The 22q11.2 deletion syndrome (22q11.2DS) represents a genetic condition at higher risk of transition to psychosis. Both self-esteem (SE), intended as self-evaluation based on cognitive and affective elements...
BACKGROUND: The 22q11.2 deletion syndrome (22q11.2DS) represents a genetic condition at higher risk of transition to psychosis. Both self-esteem (SE), intended as self-evaluation based on cognitive and affective elements, and psychotic symptoms may be associated with patients' real-life functioning. We investigated whether these variables differently correlate with real-life functioning in 22q11.2DS. METHODS: We recruited 22 patients with 22q11.2DS (DEL, N = 22) and 10 with 22q11.2DS and psychosis (DEL-SCZ, N = 10); we administered the Positive And Negative Syndrome Scale (PANSS), the Specific Levels of Functioning scale (SLoF) and the Self Esteem Rating Scale (SERS). RESULTS: The DEL-SCZ and DEL groups did not significantly differ on the SERS (p = 0.228). The DEL group scored higher than DEL-SCZ on the SLoF-total (p = 0.006) and on the SLoF-social functioning (p = 0.031). PANSS-total negatively correlated with SLoF-total scores (ρ = -0.698; p < 0.001), with the SLoF-social functioning (ρ = -0.643; p < 0.001) and with SERS (ρ = -0.391; p = 0.036). SERS scores positively correlated with SLoF-total (ρ = 0.545; p = 0.003) but not with SLoF-social functioning. DISCUSSION AND CONCLUSIONS: DEL and DEL-SCZ display similar levels of SE suggesting that this psychological dimension is not associated with psychotic symptoms. Levels of SE and psychopathology differentially relate to real-life and social functioning in people with 22q11.2DS: Symptom severity is particularly associated with patients' social and interpersonal functioning. Psychological supportive interventions might be useful to improve real-life functioning in people with 22q11.2DS.
Music Aggravates Catechol-Induced Behavioural Abnormality and Redox Imbalance in Zebrafish.
Xiao Y, Rong D, Ye H … +6 more , Duan Y, Qiao L, Zuo L, Liu L, Bayram H, Wang J
Int J Dev Neurosci · 2025 Apr · PMID 40271718 · Publisher ↗
Catechol, also known as pyrocatechol, is a widespread antioxidant carcinogen that has been shown to cause central nervous system damage and metabolic abnormalities, and in zebrafish, it has been shown that exposure to aq...
Catechol, also known as pyrocatechol, is a widespread antioxidant carcinogen that has been shown to cause central nervous system damage and metabolic abnormalities, and in zebrafish, it has been shown that exposure to aqueous solutions of catechol results in reduced pigmentation and decreased basal locomotor rate in juvenile zebrafish. However, the effects of catechol on zebrafish redox and behaviour are unknown. The aim of this study was to investigate the effects of catechol on oxidative stress levels in early zebrafish development and on behaviour in later stages of zebrafish development and to attempt to intervene in this effect with music therapy. We exposed zebrafish adults and juveniles to catechol separately, tested zebrafish juveniles for various redox indices and found that zebrafish juveniles had increased levels of reactive oxygen species and decreased total antioxidant capacity and lipid peroxidation capacity, and we tested zebrafish adults for behavioural studies and found that anxiety behaviours increased as social cohesion decreased. We then conducted a music therapy intervention for catechol exposure in adult zebrafish and found that music therapy exacerbated catechol-induced behavioural abnormalities and altered oxidative levels, whether zebrafish were exposed to both catechol and classical music or whether the catechol exposure was followed by a 12-day classical music intervention after 12 days of catechol exposure. In summary, this study revealed for the first time that catechol caused redox imbalance in juvenile zebrafish and socially disturbed, anxious behaviour in adults and found that music treatment worsened this behavioural abnormality. This study provides new insights into the effects of catechol on zebrafish and suggests that the therapeutic effects of music therapy may have a double-edged effect.
Small SNPs, Big Effects: A Review of Single Nucleotide Variations and Polymorphisms in Key Genes Associated With Autism Spectrum Disorder.
Srinath S, Kalal A, Anand P … +2 more , Mohapatra S, Chakraborty P
Int J Dev Neurosci · 2025 Apr · PMID 40223535 · Publisher ↗
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterised by significant genetic variation. This article examines genetic alterations linked to ASD, with a specific emphasis on single nucleot...
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterised by significant genetic variation. This article examines genetic alterations linked to ASD, with a specific emphasis on single nucleotide polymorphisms (SNPs) and single nucleotide variants (SNVs). Recent genome-wide association studies (GWAS) have identified several genetic variations associated with ASD. Although their precise roles remain unclear, such genetic polymorphisms and variations significantly influence several neurodevelopmental processes. Mutations in SHANK3 and NRXN1, for example, disrupt synaptic activity and neurotransmission, contributing to ASD and intellectual deficits. Similarly, PTEN and MECP2, crucial for brain development, are associated with abnormal cell proliferation and neurodevelopmental disorders when mutated. CHD8, a key regulator of chromatin remodelling, is strongly linked to ASD, with its mutations impacting transcriptional regulation and neurodevelopment, while mutations in SCN2A disrupt neuronal excitability and synaptic transmission. In this review, we discuss SNPs and SNVs across these six key genes, to summarise their impact on the aetiology of ASD. A shift of focus in autism genetics giving equal importance to minor variations is critical to better understand the intricate aetiology of ASD and to create specific treatment strategies.
Evaluation of Orexin-A, Adiponectin and Apelin-13 Serum Levels in Children Diagnosed With Attention Deficit Hyperactivity Disorder.
Avunduk S, Başay Ö, Demir S … +1 more , Kardeşler AÇ
Int J Dev Neurosci · 2025 Apr · PMID 40156238 · Publisher ↗
OBJECTIVE: This study investigates the role of orexin-a, adiponectin (HMWA) and apelin-13 serum levels in the etiopathogenesis of attention deficit hyperactivity disorder (ADHD), a neurodevelopmental disorder with unclea...
OBJECTIVE: This study investigates the role of orexin-a, adiponectin (HMWA) and apelin-13 serum levels in the etiopathogenesis of attention deficit hyperactivity disorder (ADHD), a neurodevelopmental disorder with unclear aetiology involving neuropathological, genetic and environmental factors. METHODS: The study involved 37 children with ADHD and 35 healthy controls, aged 6-18 years, with no history of other physical or psychiatric illnesses and no psychotropic medication use in the last 6 months. Serum levels of orexin-a, adiponectin (HMWA) and apelin-13 were measured using enzyme-linked immunosorbent assay (ELISA). ADHD symptoms were assessed through Diagnostic and Statistical Manual of Mental Disorders-5 (DSM-5)-based clinical interviews, Conners Parent and Teacher Rating Scales and Wisconsin Card Sorting Test. RESULTS: No significant differences in serum orexin-a, adiponectin (HMWA) and apelin-13 levels were found between the ADHD and control groups. Additionally, there was no relationship between orexin-a, apelin-13 and adinopectin levels and ADHD symptoms and Wisconsin Card Sorting Test results. Analysis of adiponectin levels in preadolescent children aged 6-11, adjusting for age and BMI, revealed a statistically significant reduction in the ADHD group (p = 0.002). CONCLUSION: The results did not demonstrate any correlation between ADHD and the levels of orexin-a and apelin-13. However, the study revealed that children with ADHD, aged 6-11, exhibited decreased adiponectin concentrations. These results suggest that a decrease in serum adinopectin levels may be associated with ADHD in children.
Retinal Nerve Fibre Layer Thickness, Maküler Thickness and Macular Volume in Children With Intellectual Disability.
Karaaslan U, Altun H, Çömez A
Int J Dev Neurosci · 2025 Apr · PMID 40143513 · Publisher ↗
OBJECTIVE: It was aimed to investigate retinal nerve fibre layer (RNFL) thickness, macular thickness and macular volume and the relationship between these parameters and the Weschler Intelligence Scale for Children (WISC...
OBJECTIVE: It was aimed to investigate retinal nerve fibre layer (RNFL) thickness, macular thickness and macular volume and the relationship between these parameters and the Weschler Intelligence Scale for Children (WISC-R) in children with intellectual disability (ID). METHODS: The study included 41 (27 male and 14 female) patients of ages 7-18 who were diagnosed with ID and 41 age- and sex-matched healthy individuals (24 male and 17 female). WISC-R intelligence test was applied with all the participants, and the parents were asked to fill out a Sociodemographic Data Form and the Strengths and Difficulties Questionnaire (SDQ). The RNFL, macular thickness and macular volume were examined by optical coherence tomography (OCT). RESULTS: The RNFL was lower in all the quadrants (nasal, temporal, superior and inferior) in the patient group, but this thinness was not statistically significant in comparison to the control group. The left eye central macular and lest eye mean macular thicknesses were significantly lower in the patient group (respectively, p = 0.030, p = 0.048). Though not statistically significant, other all macular thickness and volume values were lower in the patient group in comparison to the control group. In the patient group, a weak negative correlation was observed between the performance subscore of the WISC-R and the RNFL values of the right eye inferior quadrant, as well as the left eye inferior and temporal quadrants (respectively, r = -0.329, p = 0.036; r = -0.308, p = 0.050; r = -0.309, p = 0.050). Additionally, a weak negative correlation was found between the total WISC-R scores and the RNFL values of the left eye temporal quadrant (r = -0.318, p = 0.043). CONCLUSION: This study suggests that macular thickness are reduced in ID patients but show no statistically significant changes in the RNFL. Lower macular thickness may potentially be linked to the brain abnormalities seen in ID, given the shared developmental origin of the retina and central nervous system. Further studies are needed to determine the potential application of OCT as a tool for diagnosing and monitoring the progression of this disease.
Correction to 'Agmatine Ameliorates Valproic Acid-Induced Depletion of Parvalbumin-Positive Neuron'.
Int J Dev Neurosci · 2025 Apr · PMID 40135389 · Publisher ↗
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A Novel KMT2E Splicing Variant as a Cause of O'Donnell-Luria-Rodan Syndrome With West Syndrome: Expansion of the Phenotype and Genotype.
Cai Q, Feng F, Wang H … +5 more , Tian Y, Luo R, Yang F, Qian X, Zhou Z
Int J Dev Neurosci · 2025 Apr · PMID 40070083 · Publisher ↗
INTRODUCTION: O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant disorder associated with KMT2E gene variants. ODLURO syndrome is characterized mainly by developmental delay, intellectual disability and mac...
INTRODUCTION: O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant disorder associated with KMT2E gene variants. ODLURO syndrome is characterized mainly by developmental delay, intellectual disability and macrocephaly or microcephaly; in some patients, it may manifest as autism or epilepsy. METHODS: Trio whole-exome sequencing was performed on a female infant with unexplained West syndrome and developmental regression. A de novo splicing variant in the KMT2E gene was identified. The effects of this variant were analysed via a minigene splice assay and in vitro reverse transcription PCR. RESULTS: The patient presented with spasmodic seizures and developmental delay at 6 months of age. The video electroencephalogram (EEG) displayed hypsarrhythmia. Brain MRI revealed abnormal signals around the lateral ventricles and decreased white matter volume. A novel splicing variant in the KMT2E gene (NM_182931.3: c.1248_1248+9del) was identified in our proband. Sanger sequencing confirmed that the variant was not inherited from her parents. The in vitro minigene assay confirmed that c.1248_1248+9del resulted in exon 12 skipping. CONCLUSION: To our knowledge, this is the first definite report of ODLURO syndrome with West syndrome as the original manifestation. The deleterious effects of KMT2E c.1248_1248+9del were demonstrated in our proband. Splicing variants in the KMT2E gene are rare, and our study expands the phenotype and genotype of ODLURO syndrome. Additional studies are needed to explore the genotype-phenotype correlations of this disease.
Correction to 'Investigation of Neuronal-Astroglial Injury Proteins and MMP-9 Serum Levels in Autism Spectrum Disorder and Their Relationship With Autistic Regression.
Int J Dev Neurosci · 2025 Apr · PMID 40045560 · Publisher ↗
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Assessment of Empathy-Like Behaviour in Valproic Acid-Induced Rat Model of Autism.
Tunçak S, Gören B, Uzbay T … +1 more , Öz P
Int J Dev Neurosci · 2025 Apr · PMID 40045552 · Publisher ↗
Prenatal VPA exposure is used to model ASD-like symptoms. Disrupted empathy is frequently observed in individuals with ASD, but empathy-like behaviour is not well documented in animal models. Pregnant Wistar Albino rats...
Prenatal VPA exposure is used to model ASD-like symptoms. Disrupted empathy is frequently observed in individuals with ASD, but empathy-like behaviour is not well documented in animal models. Pregnant Wistar Albino rats were administered either 400 mg/kg VPA or saline i.p. on E12.5. Empathy-like behaviour was assessed at P30 and P60 in both female and male offspring, who were also tested for olfactory discrimination, sociability, locomotor activity, and pre-pulse inhibition. Prenatal exposure to VPA significantly impaired empathy-like behaviour, as measured by the duration of time the subject spent with its sibling and the frequency of attempts to open the restrainer door. When P30 and P60 results were compared within groups, a developmental arrest in empathy-like behaviour was observed in the VPA group, whereas the control group showed improvement in their scores. Prenatal exposure to VPA also resulted in significantly decreased sociability and pre-pulse inhibition rates. In this study, an adapted version for measuring empathy-like behaviour has been proposed. This version involved a restrained sibling and no prior training, allowing the measurement to be independent of learning, memory, and stranger anxiety. The results show that VPA has negative effects on social development and is a valid tool for modelling ASD in both females and males.
Effects of Valproic Acid and Maternal Deprivation on Autism-Like Behaviours and Neurodevelopmental Outcomes in Female and Male Rats.
Sheibani Tezerji S, Jonaidi H, Sheibani V … +5 more , Moslemizadeh A, Azizi S, Dalili M, Bashiri H, Amiresmaili S
Int J Dev Neurosci · 2025 Feb · PMID 39989088 · Publisher ↗
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by persistent social communication deficits and restricted, repetitive behaviours, with significant overlap in anxiety-related symptoms. Both...
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by persistent social communication deficits and restricted, repetitive behaviours, with significant overlap in anxiety-related symptoms. Both genetic and environmental factors contribute to the development of ASD, with early-life stressors, such as maternal separation (MS), and exposure to neurotoxic agents, like valproic acid (VPA), being key environmental contributors. This study investigates the combined impact of maternal deprivation (MD) and postnatal VPA exposure on autism-like behaviours and neurodevelopmental outcomes in male and female rats. Rats exposed to MD from postnatal days 2 to 4 exhibited significant changes in social interaction and anxiety-like behaviours, with female rats being more sensitive to MD than males. Postnatal VPA exposure resulted in similar behavioural alterations, including increased anxiety and social impairment, aligning with previous findings of VPA-induced neurodevelopmental deficits. A combination of MD and VPA exposure exacerbated anxiety-like behaviours in females, indicating that early-life stress and environmental toxins can synergistically affect neurodevelopment. Our results further suggest that the impact of these exposures may differ between sexes, with females showing heightened sensitivity to both MD and VPA-induced stress. These findings provide valuable insights into the complex interactions between genetic, environmental and epigenetic factors in ASD pathophysiology. The study underscores the critical role of early-life stressors, such as MD, in exacerbating neurodevelopmental disorders, particularly when combined with neurotoxic environmental factors like VPA. The sex-specific differences observed in behavioural outcomes suggest the importance of considering biological sex in future ASD research and therapeutic strategies.
Analysis of β-Catenin Signalling Activity Suggests Differential Regulation of Ontogenetically Distinct Dentate Granule Neuron Populations.
Billmann C, Schäffner I, Heppt J … +1 more , Lie DC
Int J Dev Neurosci · 2025 Feb · PMID 39964247 · Full text
In mammals, the dentate gyrus of the hippocampus is one of the few regions where neurogenesis continues throughout life. As a result, the dentate gyrus harbours neurons of ontogenetically different origin. Notably, ontog...
In mammals, the dentate gyrus of the hippocampus is one of the few regions where neurogenesis continues throughout life. As a result, the dentate gyrus harbours neurons of ontogenetically different origin. Notably, ontogenetically different dentate granule neurons (DGNs) are morphologically distinct and fulfil specialized functions in hippocampal information processing and plasticity. Development of adult-born DGNs is tightly controlled by signals released by the complex cellular environment of the adult dentate gyrus. In mice, an adult-like cytoarchitecture of the dentate gyrus is observed only after postnatal Week 2. The question therefore arises when the signalling environment controlling adult neurogenesis is established and whether development of ontogenetically distinct DGNs is subject to the same regulatory pathways. Here, we analyse BATGAL reporter mice to determine the temporal development of β-catenin-signalling activity in the murine DGN lineage. We show that the β-catenin-signalling pattern, which is essential for precise dendritogenesis and neuronal maturation in adulthood, emerges only around 2 weeks after birth and continues to be refined over the next weeks. These results indicate that the signalling environment controlling adult neurogenesis is only gradually established and suggest that the development of ontogenetically distinct DGNs is controlled by different mechanisms.
An Evaluation of Neuronal PARP-1 and Caspase-3 Levels in the Brain Tissue of Female Rats Exposed to Electromagnetic Fields at Different Gestational Stages.
Tüfekci KK, Tatar M, Elamin AAE … +1 more , Kaplan S
Int J Dev Neurosci · 2025 Feb · PMID 39964245 · Publisher ↗
Foetal exposure to electromagnetic fields (EMFs) may cause marked neurocognitive impairment, although the mechanisms involved are still unclear. EMF induces region-specific neuronal and astroglial death in the rat hippoc...
Foetal exposure to electromagnetic fields (EMFs) may cause marked neurocognitive impairment, although the mechanisms involved are still unclear. EMF induces region-specific neuronal and astroglial death in the rat hippocampus. Poly (ADP-ribose) polymerase-1 (PARP-1) regulates necrosis, apoptosis and other cellular processes occurring following injury. This study, therefore, investigated whether PARP-1 also regulates neuronal responses in the hippocampus of rats subjected to EMF radiation during different developmental periods. Male and female rats were first allowed to mate in separate cages. Rats identified as pregnant were then divided into four groups. A 900-MHz EMF was applied for 2 h daily on gestational days (GD) 1-7, GD 8-14 and GD 15-21. The female offspring were sacrificed at the end of the 28th postnatal day, and PARP-1 and Caspase-3 expressions in the hippocampus were then evaluated. No special treatment was applied to the control group. In the EMF-exposed group, pyramidal neurons in the cornu ammonis (CA) region appeared normal after exposure on GD 1-7 but were darkly stained and shrunken after exposure on GD 15-21, while the majority of granular cells exhibited a normal appearance during all GDs. The group exposed to EMF on GD 15-21 exhibited strong PARP-1 and Caspase-3 immune reactivity in CA and dentate gyrus (DG) cells. Higher H-scores were also observed in the EMF-exposed group following GD 15-21 irradiation. As a result, a 900-MHz EMF application at GD 15-21, which coincides with hippocampal neurogenesis, triggered hippocampal neuron cell death by activating PARP-1 and Caspase-3.
Investigation of Neuronal-Astroglial Injury Proteins and MMP-9 Serum Levels in Autism Spectrum Disorder and Their Relationship With Autistic Regression.
Devecioğlu HB, Tan Ç, Mısır EG … +3 more , Esen HTÇ, Özbek B, Kültür SEÇ
Int J Dev Neurosci · 2025 Feb · PMID 39957513 · Publisher ↗
OBJECTIVE: This study compared serum levels of S100B, GFAP, UCHL-1, NF-H and MMP-9 between children with Autism Spectrum Disorder (ASD) and controls, focusing on their association with regression in ASD. We hypothesized...
OBJECTIVE: This study compared serum levels of S100B, GFAP, UCHL-1, NF-H and MMP-9 between children with Autism Spectrum Disorder (ASD) and controls, focusing on their association with regression in ASD. We hypothesized that neuroinflammation and neuronal/astroglial damage markers would be higher in the ASD group than in controls and even more elevated in the regressive ASD subgroup compared to the non-regressive subgroup. METHODS: The study included 50 children with ASD (ages 4-10) and 30 healthy children. Participants underwent the K-SADS-PL diagnostic interview, CARS, a semi-structured interview for regression, ABC, AuBC, CPRS-RS and SRS assessments. Serum levels of S100B, GFAP, UCHL-1, NF-H and MMP-9 were measured using flow cytometry and ELISA. RESULTS: Serum levels of S100B, GFAP, UCHL-1, NF-H and MMP-9 showed no significant differences between the ASD and control groups. Within the ASD group, no notable differences were found in sociodemographic, clinical characteristics, or serum marker levels between those with and without regression. CONCLUSION: The findings obtained in this study suggested that it is necessary to question whether the peripheral circulation can represent changes in central nervous system and to review the existence of autistic regression as a separate entity in ASD in terms of clinical features and etiopathogenesis.
Are Neurocognitive Deficits Associated With Gastrointestinal Symptoms in Children due to COVID-19?
Megari K, Thomaidou E, Palioura ME … +8 more , Parasxiakos S, Skoutara A, Stougioude P, Theodoratou M, Sofologi M, Efthymiou E, Papadopoulou S, Katsarou DV
Int J Dev Neurosci · 2025 Feb · PMID 39949128 · Publisher ↗
BACKGROUND AND OBJECTIVES: Children with gastrointestinal symptoms due to COVID-19 may experience neurocognitive deficits. Symptoms include difficulty in concentration, memory and other cognitive functions. The deficits...
BACKGROUND AND OBJECTIVES: Children with gastrointestinal symptoms due to COVID-19 may experience neurocognitive deficits. Symptoms include difficulty in concentration, memory and other cognitive functions. The deficits could be caused by the virus itself or due to the physical and psychological stress of the pandemic. MATERIALS AND METHODS: In this study, we examined 65 children, 32 children with gastrointestinal symptoms, and we compared them to 33 children without gastrointestinal symptoms due to COVID-19, to investigate whether gastrointestinal symptoms affected neurocognitive status in children with COVID-19. RESULTS: We found that there was a significant relationship between cognitive function and GI symptoms, as well as between cognitive function and the severity of these symptoms. This indicates that COVID-19 patients with GI symptoms may be at risk for developing problems with their memory and other aspects of cognition. CONCLUSIONS: Early detection and intervention may help young children recover faster and return to their typical cognitive functioning.
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