Int. J. Dev. Neurosci. [JOURNAL]
Sun
200 papers
Seizure Activity and Hypoxia Differentially Regulate Endogenous Neurotrophic Activin A and Neuroglobin Expression in the Immature Mouse Brain.
Becker C, Jung S, Trollmann R
Int J Dev Neurosci · 2025 Aug · PMID 40851358 · Publisher ↗
OBJECTIVES: Activin A, a multifunctional growth and differentiation factor and neuroglobin (Ngb), an oxygen-dependent heme protein, have been proposed as novel oxygen-dependent neuroprotectants. Both these endogenous cyt...
OBJECTIVES: Activin A, a multifunctional growth and differentiation factor and neuroglobin (Ngb), an oxygen-dependent heme protein, have been proposed as novel oxygen-dependent neuroprotectants. Both these endogenous cytoprotective factors are partially controlled by hypoxia-inducible transcription factors (HIFs) and are strongly upregulated in various forms of acute brain injury, including traumatic, hypoxic and ischaemic lesions. Considering their potential role as biomarkers of neonatal brain injury, we investigated the regulatory effects of seizure-induced excitotoxicity and acute hypoxia on the activin A and Ngb systems in the developing mouse brain. METHODS: We analysed the effects of acute pilocarpine-induced seizures in the brains of neonatal C57BL/6 WT mice (P10) on the age -and region-specific mRNA (real-rime-PCR) and protein expression (IHC) of Ngb and activin A (and activin A's receptors-activin A receptor Type IB, ActRIB; activin A receptor type IIA, ActRIIA; and activin A receptor Type IIB, ActRIIB) after 0-72 h of regeneration. Using the established mouse model of acute neonatal hypoxic brain injury, the same analyses were performed on the brains of another group of mouse pups (P7) subjected to acute hypoxia (FiO 8% for 6 h) and the prolyl hydroxylase inhibitor (PHI) FG-4497, which stabilizes cerebral HIF accumulation. RESULTS (MEAN ± SEM): Seizures induced significant changes in the regulation of both Ngb and activin A. Cerebral Ngb mRNA expression increased over time in response to acute seizure activity (Ngb mRNA ratio: 6 h: 4.75 ± 0.79, 72 h: 10.53 ± 1.71; vs. controls 6 h: 6.23 ± 1.15, 72 h: 8.12 ± 0.56, p < 0.01), exceeding the expected age-related increase. Activin A mRNA expression significantly decreased within 6 h of regeneration in response to seizures compared to controls (p < 0.01), while mRNA levels of specific receptors were unaffected. In response to acute hypoxia and FG-4497, a marked upregulation of cerebral Ngb mRNA concentrations was observed compared to controls (Ngb mRNA ratio: 1.99 ± 0.73 vs. 0.82 ± 0.09, p < 0.05). Contrary to the findings in the seizure-exposed brains, a significant upregulation of activin A, ActRIB and ActRIIB was detected in response to hypoxia and high-dose FG-4497 compared to controls. CONCLUSIONS: The present results demonstrate the differential regulation of Ngb and activin A in relation to time and type of injury and indicate their potential roles as biomarkers of excitotoxic and hypoxic injury in the developing brain.
Correction to 'Therapeutic Effect of Perinatal Exogenous Melatonin on Behavioral and Histopathological Changes and Antioxidative Enzymes in Neonate Mouse Model of Cortical Malformation'.
Int J Dev Neurosci · 2025 Aug · PMID 40832976 · Publisher ↗
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Whole Brain Spectral Power Differences During Infancy Following Antenatal SARS-CoV-2 and Zika Virus Exposure: Findings From Cohorts in Boston, Massachusetts and San Juan, Puerto Rico.
Valdes V, Sacks DD, Near J … +4 more , Méndez Leal AS, Edlow AG, Zorrilla CD, Nelson CA
Int J Dev Neurosci · 2025 Aug · PMID 40827504 · Publisher ↗
BACKGROUND: Viral exposure during pregnancy is associated with adverse outcomes in offspring. Given the increasing frequency of viral outbreaks both locally and globally, the current study sought to examine the impact of...
BACKGROUND: Viral exposure during pregnancy is associated with adverse outcomes in offspring. Given the increasing frequency of viral outbreaks both locally and globally, the current study sought to examine the impact of antenatal exposure to Zika virus (ZIKV) and SARS-CoV-2 on infant neurophysiological development during the first year of life. METHODS: Families were recruited from two cohorts, one in San Juan, Puerto Rico (ZIKV) and one in Boston, Massachusetts (SARS-CoV-2). For the ZIKV cohort, infants were assessed cross-sectionally between 3 to 12 months of age. For SARS-CoV-2, infants were assessed longitudinally at 3, 6, 9 and 12 months. Electroencephalography (EEG) was used to compare absolute power during a resting state task across the whole brain (by spectral band) between infants with antenatal viral exposure and nonexposed infants. Data were analysed using generalized linear models (GLMs) and multilevel mixed effects models. RESULTS: In the ZIKV cohort, age-by-exposure interactions were observed for delta (p = 0.027) and theta power (p = 0.009), where exposed infants demonstrated decreasing power with age, while nonexposed infants demonstrated increasing power with age from 3 to 12 months. In the SARS-CoV-2 cohort, antenatally exposed children had lower levels of beta (p = 0.022) and gamma power (p = 0.044) overall from 3 to 12 months. Significant recovery was observed in trajectories for beta power by 12 months. CONCLUSION: ZIKV exposure during pregnancy was associated with reductions in low-frequency EEG power, which may be indicative of disruptions in early brain maturation. SARS-CoV-2 exposure was associated with reductions in higher-frequency power, suggesting potential impairments on sensorimotor and cognitive integration. Increases in beta power by 12 months in the SARS-CoV-2 cohort indicate some recovery, although potential compounding and sleeper effects from early disruptions are possible.
Long-Term Clinical Characterization of ENTPD1-Related Spastic Paraplegia: A Novel Variant and Comprehensive Literature Review.
Erkan DD, Lafcı O, Öztoprak Ü … +2 more , Haliloğlu G, Güleray N
Int J Dev Neurosci · 2025 Aug · PMID 40827465 · Publisher ↗
Hereditary spastic paraplegia (HSP) represents a genetically heterogeneous group of neurodegenerative disorders characterized by progressive axonal degeneration of corticospinal upper motor neurons, leading to lower limb...
Hereditary spastic paraplegia (HSP) represents a genetically heterogeneous group of neurodegenerative disorders characterized by progressive axonal degeneration of corticospinal upper motor neurons, leading to lower limb-predominant spasticity and weakness. To date, 83 HSP subtypes have been reported, exhibiting either pure or complicated phenotypes. Among these, spastic paraplegia type 64 (SPG64) is an ultra-rare form of complicated HSP caused by biallelic variants in ENTPD1, which encodes an ectonucleotidase involved in purine metabolism. In this study, we report a proband presenting with neurodevelopmental regression, dysmorphic features and sensorimotor polyneuropathy, followed comprehensively for 6 years. Genetic analysis identified a novel homozygous NM_001776:c.1174C>T;p.Gln392Ter variant in ENTPD1. A literature review reveals that 39 individuals with SPG64 have been reported, with clinical manifestations including cognitive decline (38/39), speech abnormalities (30/39) and brain malformations (16/31). However, aspects of the full phenotypic spectrum remain to be fully characterized. Notably, this case represents the first documented patient with long-term follow-up, providing valuable clinical insights into disease progression over time. Neuroimaging in the proband demonstrated the involvement of the posterior limb of the internal capsule and the 'ear of the lynx' sign, which was not previously reported in SPG64. Furthermore, the presence of sensorimotor polyneuropathy supports that neuropathy may be a previously unappreciated component of SPG64. Our findings highlight the importance of deep phenotyping and long-term follow-up in fully understanding the nature of this unique HSP subtype.
Quality of Life and Anxiety of Adolescents With Cancer and Their Parents: Neurodevelopmental Implications in Adolescence.
Megari K, Katsarou DV, Mantsos E … +7 more , Miliadi V, Kosmidou E, Argyriadi A, Papadopoulou S, Argyriadis A, Toki EI, Sofologi M
Int J Dev Neurosci · 2025 Aug · PMID 40801245 · Publisher ↗
BACKGROUND: Cancer is one of the most lethal chronic diseases, which has been the reason for the majority of losses of lives globally. Adolescents with cancer experience a lower quality of life compared to both their hea...
BACKGROUND: Cancer is one of the most lethal chronic diseases, which has been the reason for the majority of losses of lives globally. Adolescents with cancer experience a lower quality of life compared to both their healthy peers and adult patients. METHODS: In the present study, 237 adolescents and 460 parents were evaluated with measures of quality of life and anxiety. RESULTS: All patients showed lower performance on QoL and increased performance on anxiety measures. Regarding parents' QoL, although parents of all groups had low performance on all measures, parents of adolescents with leukaemia experience poor quality of life and increased levels of anxiety. CONCLUSION: Adolescents and young adults with cancer are going through a turbulent period of their lives, not only due to their diagnosis and treatment process but also due to the physical and psychosocial changes and neurodevelopmental consequences of paediatric cancer and its treatment in adolescence.
Reelin/Disabled-1 Signalling Contributes to Functional Recovery on Zebrafish After Spinal Cord Injury.
Li R, Sahu S
Int J Dev Neurosci · 2025 Aug · PMID 40798876 · Publisher ↗
Reelin, an extracellular matrix glycoprotein, plays important roles in neural development. Mutation-induced loss of its functions in mammals leads to severe disorders associated with impaired motor coordination, tremors...
Reelin, an extracellular matrix glycoprotein, plays important roles in neural development. Mutation-induced loss of its functions in mammals leads to severe disorders associated with impaired motor coordination, tremors and ataxia. Little is known about Reelin's role in functional recovery after central nervous system injury. We determined the effect of knock-down of Reelin and its downstream signal-transducing molecule Disabled-1 (Dab-1) on functional recovery after spinal cord injury in larval zebrafish. Larvae deficient in Reelin and Dab-1 were generated by application of two non-overlapping antisense morpholinos for each molecule. Individual knock-down of Reelin and Dab-1 expression impaired locomotor recovery after injury, inhibited remyelination of regrown axons and reduced numbers of motor neurons caudal to the lesion site. These results indicate that the Reelin/Dab-1 signalling pathway is involved in axon regeneration after injury of a paradigmatic vertebrate in the central nervous system.
PGAP1-Related Encephalopathy in an Infant With Neurodevelopmental Delay: Novel Variant and Review of Literature.
Baris S, Yavas C
Int J Dev Neurosci · 2025 Aug · PMID 40785186 · Full text
Spastic paraplegia-67, caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis, is an autosomal recessive neurodevelopmental disorder. It is characterized by dysmorphic features, spasticity, brain abnormali...
Spastic paraplegia-67, caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis, is an autosomal recessive neurodevelopmental disorder. It is characterized by dysmorphic features, spasticity, brain abnormalities, hypotonia, impaired intellectual development and speech difficulties. A 9-month-old girl was admitted to our clinic with a neurodevelopmental disorder, hepatomegaly, occasional vomiting, spasticity and hypotonicity. Whole exome sequencing (WES) was planned in the patient who had microcephaly, dysmorphic facial appearance, short and blunt fingers, a wide mouth, lacking physical sensation, dyskinetic movements, agenesis of the corpus callosum and cerebellar hypoplasia on MRI. In our study, we used whole-exome sequencing, family segregation and bioinformatics to identify a homozygous 3 bp duplication in the GPI remodelling gene PGAP1 (c.1226_1229dup p.(Val411Argfs*3) [NM_024989.4]) in a female patient with a neurodevelopmental disorder, encephalopathy and nonspecific autosomal recessive forms of intellectual disability (ARID). At least 26 genes are involved in the biosynthesis and remodelling of GPI junctions. Hypomorphic coding variants in seven of these genes have been reported to cause reduced expression of GPI-associated proteins (GPI-APs) on the cell surface and ARID. PGAP1 gene variants are important in understanding GPI biosynthesis defects, which can lead to severe neurodevelopmental disorders like spastic paraplegia-67. The identified homozygous variant (c.1226_1229dup) further expands the genetic spectrum of GPI-related disorders and underscores the role of WES in diagnosing rare encephalopathies with dysmorphic features.
Protective Effects of MK-801 on Apoptosis in Immature Rats With Traumatic Brain Injury.
Çiğel A, Sayın O, Gürgen SG … +2 more , Koç TB, Sönmez A
Int J Dev Neurosci · 2025 Aug · PMID 40776787 · Publisher ↗
INTRODUCTION: Traumatic brain injury (TBI) is a major public health problem and an essential cause of morbidity and mortality during childhood. The aim of this study was to evaluate the apoptotic effects of MK-801, a non...
INTRODUCTION: Traumatic brain injury (TBI) is a major public health problem and an essential cause of morbidity and mortality during childhood. The aim of this study was to evaluate the apoptotic effects of MK-801, a noncompetitive NMDA receptor antagonist, on hippocampal damage in 10-day-old rat pups exposed to contusion injury. METHODS: Forty-two Wistar Albino rats were randomly assigned to three groups (n = 14 per group): control, trauma and MK-801 treatment. In the treatment group, MK-801 was administered intraperitoneally at a dose of 1 mg/kg immediately after induction of TBI. Apoptotic damage in the hippocampal dentate gyrus (DG) and CA1 regions was assessed using immunoreactivity for BAX, cytochrome c and caspase-3. RESULTS: The control group showed low levels of BAX and cytochrome c immunoreactivity in the hippocampus, whereas the TBI group exhibited markedly increased reactions. Cytochrome c immunoreactivity appeared in a granular pattern within neurons of the DG region. In the MK-801 treatment group, both BAX and cytochrome c immunoreactivities were reduced compared to the TBI group. While only weak caspase-3 immunoreactivity was observed in the control group, intense immunoreactivity was detected in both the DG and CA1 regions of the hippocampus in the TBI group. In contrast, caspase-3 immunoreactivity was notably reduced in the MK-801 group compared to the TBI group. CONCLUSION: This study demonstrated that treatment with MK-801 significantly reduces apoptosis in the hippocampus by downregulating key pro-apoptotic markers, including BAX, cytochrome c and caspase-3. These findings suggest that MK-801 exerts a neuroprotective effect by interfering with the intrinsic apoptotic pathway following TBI.
Study the Effects of Prenatal Exposure to Relaxin-3 on Reflexive Motor Behaviours Development in Mice Offspring.
Shaddel Z, Zendehdel M, Zarei H … +1 more , Hassanpour S
Int J Dev Neurosci · 2025 Aug · PMID 40771025 · Publisher ↗
Relaxin-3 is a member of a structurally related peptide superfamily that includes relaxin and insulin-like peptide hormones, which play a role in regulating stress, memory, nutrition, pregnancy and childbirth, mental ill...
Relaxin-3 is a member of a structurally related peptide superfamily that includes relaxin and insulin-like peptide hormones, which play a role in regulating stress, memory, nutrition, pregnancy and childbirth, mental illnesses, including anxiety, depression and schizophrenia, cardiovascular protective effects, and regulating social behaviour and nutritional behaviour of children with autism. However, there is no information about the effect of relaxin-3 during pregnancy on the development of behavioural and motor reflexes in mice offspring. This study aims to determine the effects of prenatal exposure to relaxin-3 on reflexive motor behaviours in mice offspring. Twelve pregnant female NMRI mice (8-10 weeks old) were randomly and equally allocated into four groups. In the control group, mice received water, while in groups 2-4, female mice were i.p. administered relaxin-3 (12.5, 25 and 50 μg/kg) at 5, 8, 11, 14 and 17 days of gestation (GD). Following delivery, 10 pups from each pregnant mouse were selected, and reflexive motor behaviours including ambulation, hind-limb foot angle, surface righting, grip strength, front- and hind-limb suspension, and negative geotaxis were determined. Based on the findings, maternal exposure to relaxin-3 promoted an increase in ambulation scores and hind-limb suspension in offsprings (p < 0.05). Also, maternal exposure to relaxin-3 (25 and 50 μg/kg) promoted an increase in grip strength and front limb suspension scores in newborns (p < 0.05). Maternal exposure to relaxin-3 decreased surface righting (p < 0.05). Prenatal exposure to relaxin-3 (25 and 50 μg/kg) decreased hind-limb foot angle and negative geotaxis in pups (p < 0.05). These results suggested that relaxin-3 exposure during pregnancy had a positive effect on all tested reflexive motor behaviours in mice offspring.
Associations Between Experience of Typical Variations in Stressors and Hippocampal Structure and Functional Connectivity in Childhood.
Botdorf M, Cui Z, Riggins T
Int J Dev Neurosci · 2025 Aug · PMID 40755154 · Full text
Abuse and maltreatment have been associated with negative effects on the developing brain through the hypothalamic-pituitary-adrenal (HPA) axis, the body's central stress response system. Theoretically, similar pathophys...
Abuse and maltreatment have been associated with negative effects on the developing brain through the hypothalamic-pituitary-adrenal (HPA) axis, the body's central stress response system. Theoretically, similar pathophysiology occurs when children experience more moderate forms of stress (i.e., changing schools); however, evidence for this association is lacking. Therefore, the current study explored the effects of typical variations in stressful life events on the development of the hippocampus, a brain region susceptible to stress. Data from a 3-year accelerated longitudinal sample of 4- and 6-year-old children were used to assess the links between stressful events and the development of hippocampal subfield volumes (N = 90) and functional connectivity (N = 83). In the 4-year-old cohort, stressful experiences were related to an overall slower growth in CA1 and subiculum volume from age 5 to 6. In the 6-year-old cohort, stressful experiences were related to smaller CA2-4/DG volume at age 6 and an overall faster decrease in subiculum volume from age 6 to 7. Small effects were observed regarding the relations between stress and hippocampal functional connectivity; however, they did not survive multiple comparisons. Results from analyses comparing cohorts showed that the relations between stressful events and CA2-4/DG volume and change in subiculum volume significantly differed between the younger and older cohorts. Overall, these findings demonstrate the links between typical variations in stress and hippocampal development and highlight the region- and age-specific nature of the effects of stress. Together, this work emphasizes the importance of understanding how brain development may be influenced by stress in all forms, as stress-related alterations in hippocampal development have been linked to variations in cognitive processes (e.g., memory) and risk for psychopathology (e.g., major depressive disorder).
Rare Presentations of GLUT1 Deficiency Syndrome: Rare Variants With Cortical Dysplasia in Two Unrelated Families.
Aydin H, Esener Z, Bolat H … +1 more , Aytaç A
Int J Dev Neurosci · 2025 Aug · PMID 40754606 · Publisher ↗
Glucose transporter type 1 deficiency syndrome (GLUT1DS) affects all age groups, from infants to adolescents, and involves age-specific symptoms. Nonclassic GLUT1 DS is observed in 10% of cases, in which seizures are not...
Glucose transporter type 1 deficiency syndrome (GLUT1DS) affects all age groups, from infants to adolescents, and involves age-specific symptoms. Nonclassic GLUT1 DS is observed in 10% of cases, in which seizures are not observed, and the condition involves a milder accompanying phenotype and paroxysmal dyskinesias. Cranial imaging findings in cases of GLUT1 DS are variable. The purpose of this report is to describe rare genetic variants in two cases of GLUT1 DS with cortical dysplasia detected at magnetic resonance imaging (MRI) and exhibiting differing clinical presentations and to discuss the relationship between them. Two cases presenting to the Balıkesir University Medical Faculty paediatric neurology clinic, Türkiye, between 01.08.2019 and 01.12.2024 due to seizures and inability to speak/numbness in the hands and arms, diagnosed as GLUT1 DS, and with cortical dysplasia, were included. The patients' files, MRI and physical examination findings and family pedigrees were evaluated. We detected two different pathogenic and likely pathogenic variants in SLC2A1 (NM_006516.3) in patients from unrelated families. Patient 1 exhibited a heterozygous c. 1208C > T variant and patient 2 a heterozygous likely c. 278G > A variant. In conclusion, the careful evaluation of patients with structural brain damage and determination of the molecular aetiology of underlying inherited metabolic diseases are highly important in terms of the provision of treatment, prognosis, and genetic counselling. Although cortical malformations have been reported in patients with GLUT1 DS, the mechanism involved remains unclear, and this report highlights the potential relationship between cortical dysplasia and specific genotypes in GLUT1 DS. Further prospective observational and functional studies involving larger numbers of cases and centres are now needed.
Electromagnetic Interaction Algorithm (EIA)-Based Feature Selection With Adaptive Kernel Attention Network (AKAttNet) for Autism Spectrum Disorder Classification.
Banerjee T
Int J Dev Neurosci · 2025 Aug · PMID 40751377 · Publisher ↗
BACKGROUND AND OBJECTIVE: Autism spectrum disorder (ASD) is a complex neurological condition that impacts cognitive, social and behavioural abilities. Early and accurate diagnosis is crucial for effective intervention an...
BACKGROUND AND OBJECTIVE: Autism spectrum disorder (ASD) is a complex neurological condition that impacts cognitive, social and behavioural abilities. Early and accurate diagnosis is crucial for effective intervention and treatment. Traditional diagnostic methods lack accuracy, efficient feature selection and computational efficiency. This study proposes an integrated approach that combines the electromagnetic interaction algorithm (EIA) for feature selection with the adaptive kernel attention network (AKAttNet) for classification, aiming to improve ASD detection performance across multiple datasets. METHODS: The proposed methodology consists of two core components: (1) EIA, which optimises feature selection by identifying the most relevant attributes for ASD classification, and (2) AKAttNet, a deep learning model leveraging adaptive kernel attention mechanisms to enhance classification accuracy. The framework is evaluated using four publicly available ASD datasets. The classification performance of AKAttNet is compared against traditional machine learning methods, including logistic regression (LR), support vector machine (SVM) and random forest (RF), as well as competing deep learning models. Statistical evaluation includes precision, recall (sensitivity), specificity and overall accuracy metrics. RESULTS: The proposed model outperforms conventional machine learning and deep learning approaches, demonstrating higher classification accuracy and robustness across multiple datasets. AKAttNet, combined with EIA-based feature selection, achieves an accuracy improvement ranging from 0.901 to 0.9827, Cohen's kappa values between 0.7789 and 0.9685 and Jaccard similarity scores from 0.8041 to 0.9709 across four different datasets. Comparative analysis highlights the efficiency of the EIA algorithm in reducing feature dimensionality while maintaining high model performance. Additionally, the proposed method exhibits lower computational time and enhanced generalizability, making it a promising approach for ASD detection. CONCLUSIONS: This study presents a practical ASD detection framework integrating EIA for feature selection with AKAttNet for classification. The results indicate that this hybrid approach enhances diagnostic accuracy while reducing computational overhead, making it a promising tool for early ASD diagnosis. The findings support the potential of deep learning and optimisation techniques in developing more efficient and reliable ASD screening systems. Future work can explore real-world clinical applications and further refinement of the feature selection process.
Contribution of an Ambidirectional Cohort Study on the Epidemiology of 186 Autism Spectrum Disorder Cases in an Algerian Population.
Loumi O, Andres CR
Int J Dev Neurosci · 2025 Aug · PMID 40726270 · Full text
Autism spectrum disorder (ASD) affects more than 80,000 children under the age of 18 in Algeria, making it a major public health problem. It is characterized by communication abnormalities, restricted and stereotyped beh...
Autism spectrum disorder (ASD) affects more than 80,000 children under the age of 18 in Algeria, making it a major public health problem. It is characterized by communication abnormalities, restricted and stereotyped behaviours and resistance to change. To date, scientific publications on autism in Algeria are very rare. This study proposes to report the clinical and paraclinical profiles of ASD children or young adults in an Algerian population, as well as the prenatal, perinatal and postnatal factors associated with ASD. We conducted an ambidirectional cohort study (retrospective and prospective) on 186 persons (143 boys and 43 girls) with a diagnosis of ASD who ranged in chronological age from 3 to 25 years (mean = 7 years 8 months; standard deviation = 3 years 9 months). Data were collected from medical records and patients interviews. The ASD diagnosis was carried out according to the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition, revised, to the Diagnostic and Statistical Manual of Mental Disorders-5th Ed (DSM-5) criteria, the Childhood Autism Rating Scale (CARS), Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. Insomnia (36.6%) and attention-deficit/hyperactivity disorder (13%) were the main comorbidities associated with autism. Most of the children (63.4%) were treated following the Treatment and Education of Autistic and Related Communication Handicapped Children. The rate of prenatal, perinatal and postnatal risk factors was registered among the ASD population. The clinical features and comorbidities of autism present among the study group were similar to findings in individuals with ASD in other parts of the world.
Sotos Syndrome With NSD1 Mutations in a Chinese Cohort: Identification of Two Novel Mutations and Literature Review.
Zhao J, Li L, Sun D … +3 more , Zhang L, Liu L, Hou M
Int J Dev Neurosci · 2025 Aug · PMID 40693312 · Full text
Sotos syndrome is an autosomal dominant disorder resulting from pathogenic variants of the NSD1 gene. In this study, we present five Chinese paediatric cases, including two previously unreported NSD1 variants: a nonsense...
Sotos syndrome is an autosomal dominant disorder resulting from pathogenic variants of the NSD1 gene. In this study, we present five Chinese paediatric cases, including two previously unreported NSD1 variants: a nonsense mutation (c.1486A > T p. Lys496*) and a missense mutation (c.6086C > T) (p. Thr2029Ile) respectively. Additionally, we analyzed the genotypic and phenotypic spectrum of 23 Chinese children with molecularly confirmed Sotos syndrome. Patients exhibited characteristic craniofacial features and significant overgrowth. All patients showed DD/ID and five patients (21.7%) showed symptoms of ASD. Febrile seizures occurred in six patients (26.1%). Abnormalities on cranial imaging were generally nonspecific. Other clinical features were also shown, such as atrial septal defect (5 cases), patent ductus arteriosus (3 cases), scoliosis (2 cases) and neonatal hypoglycemia (2 cases). These findings underscore the phenotypic variability of Sotos syndrome and highlight the necessity for long-term multidisciplinary follow-up to delineate its evolving natural history and optimize clinical management.
The Signalled Licking/Avoidance of Punishment (SLAP) Paradigm in Rats: Capacity for Insight Between Goal Conditioning and Signalling Contingencies.
Puzzo C, Oggiano M, Capobianco M … +7 more , Costa A, Pepe M, Curcio G, De Laurenzi V, Laviola G, Mannella F, Adriani W
Int J Dev Neurosci · 2025 Aug · PMID 40635325 · Publisher ↗
In developmental-age kids with specific-learning-disabilities (SLD), functional illiteracy entails poor logical reasoning; in those with attention-deficit/hyperactivity disorder (ADHD), a deficit in prospective memory re...
In developmental-age kids with specific-learning-disabilities (SLD), functional illiteracy entails poor logical reasoning; in those with attention-deficit/hyperactivity disorder (ADHD), a deficit in prospective memory results in difficulty executing previously planned actions. We model this SLD and/or ADHD construct in the rat via the signalled-licking/avoidance-of-punishment protocol (SLAP): We aim to study to assess rats' ability to merge two independently learned notions (one Pavlovian and one instrumental) and their deliberate exploitation. Rats were tested in Skinner boxes with a water-dispenser and lickometer. The 'Flash' paradigm consists of 30-min daily sessions, in which 5-min safe phases (i.e., sound and light off, signalled free-drinking) are intertwined by 1-min unsafe phases (i.e., sound and light on). If subjects drink during unsafe phases, a mild footshock is released: Rats learn to withhold drinking. The 'Allow' paradigm starts and stays in the unsafe phase. Rats can shift to a 2-min safe phase through a single nose poke in the active-hole. The possibility to exert control over the environment, via seeking dark-and-silence (the predictive contingencies) as deliberate goal, is an unexplored construct in rats. In data from the 'Flash' paradigm, a greater number of licks/h during safe phases is confirming that rats easily understand classical passive-avoidance contingencies. Findings from the 'Allow' paradigm indicate increased inefficacious nose pokes/h during safe phases, compared to unsafe ones. This is clearly suggesting that rats associate the change of phase with an outcome of their own input into the active nose-poking device. However, rats do not understand the 'potential' for instrumental exploitation of their nose pokes. As such, no significant inferences were drawn across the two independent associative notions. Neurobiology of this putative 'insight' capability may rely on limbic-striatal-cortical networks. Impairments in the latter may be involved in deficits of prospective memory (in ADHD), and/or impairments in logic skills (in SLD). The SLAP protocol may offer insights on basic neurobiology as well as modulatory effects thereon of pharmacological molecules.
Neurological Disease Syndrome Caused by a STAG1 Gene Variant: A Case Report and Literature Review.
Zhang Q, Ren Y, Su S … +3 more , Hu W, Zhang H, Zhang T
Int J Dev Neurosci · 2025 Aug · PMID 40625213 · Full text
BACKGROUND: The cohesin complex is a multifunctional unit that plays a crucial role in DNA repair, replication, chromosome segregation, and gene expression. Dysfunctions in this complex can lead to a spectrum of developm...
BACKGROUND: The cohesin complex is a multifunctional unit that plays a crucial role in DNA repair, replication, chromosome segregation, and gene expression. Dysfunctions in this complex can lead to a spectrum of developmental disorders collectively known as cohesinopathies. CASE: We retrospectively analysed the clinical data of a 2-year-old boy who was admitted to the hospital with seizures. Genetic testing identified a heterozygous de novo variant in STAG1 at the c.2549G > A (p.Gly850Asp) locus. METHODS: A comprehensive literature review was conducted to summarize previously reported STAG1 variants and their associated clinical features. CONCLUSION: This study expands the molecular spectrum of STAG1 variants. This suggests that genetic testing is highly important, especially for neurodevelopmental disorders with unknown causes. It can facilitate early intervention and guide prenatal diagnosis and genetic counseling.
Navigating the Autism Journey: Parental Experiences, Barriers and the Role of Early Intervention in India.
Bharat R, Uzaina U, Das K … +1 more , Baptish R
Int J Dev Neurosci · 2025 · PMID 40619787 · Publisher ↗
Parents of children with autism spectrum disorder (ASD) often encounter significant challenges in accessing timely diagnosis and appropriate support services. This study explores the experiences of parents navigating aut...
Parents of children with autism spectrum disorder (ASD) often encounter significant challenges in accessing timely diagnosis and appropriate support services. This study explores the experiences of parents navigating autism-related services in India, focusing on barriers to diagnosis, post-diagnosis support and the role of early intervention. Using a qualitative research design, we conducted focus group discussions with 11 parents of children with ASD and analysed the data using thematic analysis. Sentiment analysis and chi-square statistical testing were also applied to assess parental perspectives across key themes. The findings reveal systemic delays in diagnosis, limited public awareness and inconsistencies in service availability, which contribute to heightened parental stress. Parents expressed difficulties in implementing intervention strategies at home and reported challenges related to accessibility and affordability of professional support. Whereas some parents acknowledged the benefits of available services, many highlighted gaps in tailored, culturally appropriate interventions. Sentiment analysis showed a relatively even distribution of positive, neutral and negative sentiments across themes, indicating the complexity of parental experiences. This study underscores the need for a more structured and inclusive approach to ASD support, including digital tools, peer support networks and early screening programmes. Strengthening policy frameworks and expanding accessible interventions can enhance the effectiveness of autism services and improve outcomes for families. These findings contribute to the growing body of research advocating for parent-inclusive, culturally responsive autism support systems.
Association of Serum SOCS3 and Inflammatory Marker Levels With Cognitive Function in First-Episode Schizophrenia.
Luo J, Ping J, Wan J … +4 more , Zhu J, Zhang Y, Zhang J, Jiang T
Int J Dev Neurosci · 2025 Jun · PMID 40545471 · Publisher ↗
BACKGROUND: Accumulating evidence suggests that dysregulated inflammatory signalling pathway plays a crucial role in the development and pathogenesis of clinical features in schizophrenia. SOCS3, a key regulator of infla...
BACKGROUND: Accumulating evidence suggests that dysregulated inflammatory signalling pathway plays a crucial role in the development and pathogenesis of clinical features in schizophrenia. SOCS3, a key regulator of inflammatory signalling pathways, has been implicated in this process. However, the complicated association between SOCS3 function and clinical features in unmedicated first-episode schizophrenia (SCZ) remains poorly understood. While increased levels of systemic inflammatory markers, including C-reactive protein (CRP) and proinflammatory cytokines like IL-6 and IL-1β, have been negatively linked to severity of negative and mood symptoms in SCZ patients, the levels of systemic inflammatory markers cytokines levels neurocognitive function in SCZ warrants further investigation. The primary hypotheses of this study are as follows: (1) The levels of SOCS3 and systemic inflammatory cytokines levels could differentiate between individuals with first-episode SCZ and healthy controls. (2) Patients with first-episode SCZ exhibit significantly lower cognitive function and executive abilities compared to healthy controls. (3) Dysregulated SOCS3 pathways contribute to cognitive impairment in first-episode SCZ. METHODS: A total of 93 patients diagnosed with first-episode SCZ and 60 healthy controls were recruited for the current study. The serum levels of CRP, IL-6, IL-1β and SOCS3 were determined with ELISA. Clinical symptoms in SCZ patients were evaluated using the PANSS scale and Stroop test, while cognitive function in the healthy control group were assessed solely using the Stroop test. Statistical analyses were performed with adjustments for age and gender as covariates. RESULTS: Compared to healthy controls, individuals with first-episode SCZ exhibited significantly decreased serum SOCS3 levels (p < 0.05) and elevated IL-6 levels (p < 0.05), while no significant differences in CRP or IL-1β levels (p > 0.05) were observed between the two groups. In the Stroop test, the SCZ group demonstrated prolonged response times (One word time, One colour time, word-Color time and Color-Word time) and increased error rates (One word errors, One colour errors, Word-Colour errors and Colour-Word errors) compared to healthy controls, with all differences reaching statistical significance (p < 0.05). Serum SOCS3 levels were negatively correlated with PANSS cognitive subscale scores in the SCZ group, whereas IL-6 levels showed a positive correlation with one-colour time and one-colour errors in the Stroop test. The predictive value of serum SOCS3 for SCZ was determined by an AUC of 0.832, surpassing that of IL-6 (AUC = 0.789). CONCLUSION: The current findings along with previous studies support the immune dysfunction plays a potential role in development of SCZ. Notably, alteration in peripheral levels of SOCS3 and IL-6 highlighting their potential application for early intervention for first episode SCZ and these changes are further associated with cognitive dysfunction. Moreover, SOCS3 demonstrated superior sensitivity in predicting SCZ, underscoring the importance of further investigating its role in SCZ pathogenesis and exploring novel therapeutic interventions.
The Effect of Transcranial Direct Stimulation Over Cerebellum and Suplementary Motor Area on Balance Functions in Healthy Young Adults: A Resting EEG-tDCS Study.
Soy Z, Saricaoglu M, Ogul OE … +2 more , Hanoglu L, Mutluay FK
Int J Dev Neurosci · 2025 Jun · PMID 40468475 · Publisher ↗
This study aims to examine the impact of anodal transcranial direct stimulation (tDCS) targeting the cerebellum (CER) and the supplementary motor area (SMA) on both balance function and resting-state beta activity. A coh...
This study aims to examine the impact of anodal transcranial direct stimulation (tDCS) targeting the cerebellum (CER) and the supplementary motor area (SMA) on both balance function and resting-state beta activity. A cohort of 28 healthy young individuals participated in the study. Each session involved administering CER, SMA and sham stimulations. Balance assessments were performed before and after stimulation, alongside recording resting-state EEG beta activity. Results revealed a significant increase in the Balance Error Scoring System (BESS) score and certain step distances in the Star Excursion Balance Test (SEBT) following both cerebellar and sham stimulation, as well as in specific step distances of the SEBT following SMA stimulation (p < 0.005). Moreover, there was a noticeable rise in resting-state beta-band power values from pre-tDCS to post-tDCS (p < 0.001). Post hoc comparison analysis indicated a significant enhancement in beta power following cerebellar stimulation (p = 0.034). A correlation appeared between the increase in beta activation after cerebellar stimulation and the SEBT (p < 0.005). The efficacy of cerebellar, SMA and sham stimulation in modulating balance function. It elucidates the modulation of resting-state beta activity through tDCS, particularly highlighting a significant increase in beta activity after cerebellum stimulation, potentially implicating alterations in balance tests consequent to this notable augmentation.
Age-Related Changes in Brain Network Modularity Based on the Dynamic Sliding-Window Subnetwork Voting Method.
Liu J, Xia N, Hu K … +2 more , Huang M, Linli Z
Int J Dev Neurosci · 2025 Jun · PMID 40461445 · Publisher ↗
BACKGROUND AND PURPOSE: An understanding of the modular structure of brain functional networks and their changes with age is beneficial in uncovering the neural mechanisms that underlie cognitive decline during the agein...
BACKGROUND AND PURPOSE: An understanding of the modular structure of brain functional networks and their changes with age is beneficial in uncovering the neural mechanisms that underlie cognitive decline during the ageing process. Compared to simpler networks, such as social networks, the execution of brain functions always depends on extensive interactions among multiple brain regions, which complicates the detection of accurate, stable and physiologically meaningful community structures. However, although previous work has focused on the modular organization of the brain, there has been insufficient research on its specific dynamic changes and how these evolve with age. In this case, this paper investigates the modular structure of human brain functional networks and their dynamic changes across different age groups, revealing the impact of ageing on brain network functionality. METHODS: Firstly, we constructed brain networks using a dynamic sliding-window subnetwork voting method. Further, this paper, based on public datasets and the Girvan-Newman (GN) community detection algorithm, effectively divided the community structure of brain networks and calculated modularity. It focused on analysing the brain network characteristics of 439 participants under rs-fMRI data. RESULTS: The results of the variance analysis indicate significant differences in modularity across different age groups. The brain networks of younger participants exhibited pronounced modular characteristics and higher efficiency in information processing. In contrast, older participants displayed a significant reduction in modularity, reflecting a trend towards functional integration. CONCLUSION: These changes are closely related to the decline in cognitive abilities and the degeneration of neural connections.
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