International Journal of Developmental Neuroscience最新文献

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Electromagnetic Interaction Algorithm (EIA)-Based Feature Selection With Adaptive Kernel Attention Network (AKAttNet) for Autism Spectrum Disorder Classification 基于电磁交互算法(EIA)的自适应核注意网络(AKAttNet)特征选择用于自闭症谱系障碍分类
IF 1.6 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-08-02 DOI: 10.1002/jdn.70034
Tathagat Banerjee
{"title":"Electromagnetic Interaction Algorithm (EIA)-Based Feature Selection With Adaptive Kernel Attention Network (AKAttNet) for Autism Spectrum Disorder Classification","authors":"Tathagat Banerjee","doi":"10.1002/jdn.70034","DOIUrl":"https://doi.org/10.1002/jdn.70034","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Objective</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>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 cli","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 5","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144758616","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Study the Effects of Prenatal Exposure to Relaxin-3 on Reflexive Motor Behaviours Development in Mice Offspring. 研究产前暴露于松弛素-3对小鼠后代反射性运动行为发育的影响。
IF 1.6 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-08-01 DOI: 10.1002/jdn.70033
Zahra Shaddel, Morteza Zendehdel, Hamed Zarei, Shahin Hassanpour
{"title":"Study the Effects of Prenatal Exposure to Relaxin-3 on Reflexive Motor Behaviours Development in Mice Offspring.","authors":"Zahra Shaddel, Morteza Zendehdel, Hamed Zarei, Shahin Hassanpour","doi":"10.1002/jdn.70033","DOIUrl":"https://doi.org/10.1002/jdn.70033","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 5","pages":"e70033"},"PeriodicalIF":1.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144794363","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Protective Effects of MK-801 on Apoptosis in Immature Rats With Traumatic Brain Injury. MK-801对未成熟大鼠创伤性脑损伤细胞凋亡的保护作用。
IF 1.6 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-08-01 DOI: 10.1002/jdn.70043
Ayşe Çiğel, Oya Sayın, Seren Gülşen Gürgen, Talha Başar Koç, Ataç Sönmez
{"title":"Protective Effects of MK-801 on Apoptosis in Immature Rats With Traumatic Brain Injury.","authors":"Ayşe Çiğel, Oya Sayın, Seren Gülşen Gürgen, Talha Başar Koç, Ataç Sönmez","doi":"10.1002/jdn.70043","DOIUrl":"https://doi.org/10.1002/jdn.70043","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 5","pages":"e70043"},"PeriodicalIF":1.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144799028","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Contribution of an Ambidirectional Cohort Study on the Epidemiology of 186 Autism Spectrum Disorder Cases in an Algerian Population 阿尔及利亚186例自闭症谱系障碍病例的双向队列流行病学研究贡献
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-07-29 DOI: 10.1002/jdn.70036
Ourida Loumi, Christian R. Andres
{"title":"Contribution of an Ambidirectional Cohort Study on the Epidemiology of 186 Autism Spectrum Disorder Cases in an Algerian Population","authors":"Ourida Loumi,&nbsp;Christian R. Andres","doi":"10.1002/jdn.70036","DOIUrl":"https://doi.org/10.1002/jdn.70036","url":null,"abstract":"<p>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.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 5","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jdn.70036","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144716936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Sotos Syndrome With NSD1 Mutations in a Chinese Cohort: Identification of Two Novel Mutations and Literature Review 中国人群中伴有NSD1突变的Sotos综合征:两个新突变的鉴定和文献综述
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-07-22 DOI: 10.1002/jdn.70032
Jianhui Zhao, Luzhuang Li, Dianrong Sun, Leihong Zhang, Lin Liu, Mei Hou
{"title":"Sotos Syndrome With NSD1 Mutations in a Chinese Cohort: Identification of Two Novel Mutations and Literature Review","authors":"Jianhui Zhao,&nbsp;Luzhuang Li,&nbsp;Dianrong Sun,&nbsp;Leihong Zhang,&nbsp;Lin Liu,&nbsp;Mei Hou","doi":"10.1002/jdn.70032","DOIUrl":"https://doi.org/10.1002/jdn.70032","url":null,"abstract":"<p>Sotos syndrome is an autosomal dominant disorder resulting from pathogenic variants of the <i>NSD1</i> gene. In this study, we present five Chinese paediatric cases, including two previously unreported <i>NSD1</i> variants: a nonsense mutation (c.1486A &gt; T p. Lys496*) and a missense mutation (c.6086C &gt; 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.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 5","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jdn.70032","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144672014","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Signalled Licking/Avoidance of Punishment (SLAP) Paradigm in Rats: Capacity for Insight Between Goal Conditioning and Signalling Contingencies 大鼠的信号舔/避免惩罚(SLAP)范式:目标条件反射和信号偶然性之间的洞察能力
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-07-09 DOI: 10.1002/jdn.70028
Concetto Puzzo, Maurizio Oggiano, Micaela Capobianco, Alberto Costa, Martina Pepe, Giuseppe Curcio, Vincenzo De Laurenzi, Giovanni Laviola, Francesco Mannella, Walter Adriani
{"title":"The Signalled Licking/Avoidance of Punishment (SLAP) Paradigm in Rats: Capacity for Insight Between Goal Conditioning and Signalling Contingencies","authors":"Concetto Puzzo,&nbsp;Maurizio Oggiano,&nbsp;Micaela Capobianco,&nbsp;Alberto Costa,&nbsp;Martina Pepe,&nbsp;Giuseppe Curcio,&nbsp;Vincenzo De Laurenzi,&nbsp;Giovanni Laviola,&nbsp;Francesco Mannella,&nbsp;Walter Adriani","doi":"10.1002/jdn.70028","DOIUrl":"https://doi.org/10.1002/jdn.70028","url":null,"abstract":"<div>\u0000 \u0000 <p>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.</p>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 5","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144589737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pontocerebellar Hypoplasia and Periventricular Leukomalacia Associated With p.Phe262Val Homozygous Variant in TTC1 Gene: A Report of 4 Cases TTC1基因p.Phe262Val纯合变异相关的桥小脑发育不全和脑室周围白质软化4例报告
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-07-08 DOI: 10.1002/jdn.70031
Gamze Sarıkaya Uzan, Ali Han Yaramış, Ece Sönmezler, Semra Hız Kurul, Aysenur Yaramış, Uluç Yiş, Çağatay Günay, Hanns Lochmuller, Rita Horvath, Yavuz Oktay, Ahmet Yaramış
{"title":"Pontocerebellar Hypoplasia and Periventricular Leukomalacia Associated With p.Phe262Val Homozygous Variant in TTC1 Gene: A Report of 4 Cases","authors":"Gamze Sarıkaya Uzan,&nbsp;Ali Han Yaramış,&nbsp;Ece Sönmezler,&nbsp;Semra Hız Kurul,&nbsp;Aysenur Yaramış,&nbsp;Uluç Yiş,&nbsp;Çağatay Günay,&nbsp;Hanns Lochmuller,&nbsp;Rita Horvath,&nbsp;Yavuz Oktay,&nbsp;Ahmet Yaramış","doi":"10.1002/jdn.70031","DOIUrl":"https://doi.org/10.1002/jdn.70031","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Pontocerebellar hypoplasia (PCH) encompasses a heterogeneous group of neurodevelopmental disorders, currently comprising 28 subtypes listed in the Online Mendelian Inheritance in Man (OMIM) database (as of May 2025). No clinical phenotype has been associated with the <i>TTC1</i> gene in OMIM. In this report, we present four female patients from two unrelated families exhibiting PCH with cerebral periventricular leukomalacia and additional clinical features potentially linked to <i>TTC1</i>.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case Presentations</h3>\u0000 \u0000 <p>All four affected individuals presented with global developmental delay. Physical examination revealed axial hypotonia, microcephaly and esotropia. Neuroimaging (brain MRI) consistently demonstrated PCH, reduced white matter volume and ventriculomegaly secondary to periventricular leukomalacia. Genomic DNA extracted from peripheral blood samples of the affected individuals, their unaffected parents and siblings was analyzed using trio-based whole-exome sequencing. Variant prioritization was performed via the RD-Connect Genome–Phenome Analysis Platform, which identified a homozygous missense variant in TTC1 (NM_003314.3: c.784 T &gt; G, p.Phe262Val) in all affected individuals. The variant was present in the heterozygous state in all parents and unaffected siblings. This variant is classified as likely pathogenic in the ClinVar database.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Result</h3>\u0000 \u0000 <p>Our findings in four patients confirm that this variant in the <i>TTC1</i> gene may be associated with PCH and cerebral periventricular leukomalacia. To our knowledge, this is the first report implicating <i>TTC1</i> in congenital brain malformations. We propose that <i>TTC1</i> should be considered a candidate gene in the genetic evaluation of patients with PCH and related cerebral abnormalities.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 5","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144582273","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neurological Disease Syndrome Caused by a STAG1 Gene Variant: A Case Report and Literature Review STAG1基因变异引起的神经系统疾病综合征1例报告及文献复习
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-07-08 DOI: 10.1002/jdn.70030
Qi Zhang, Ying Ren, Song Su, Wandong Hu, Hongwei Zhang, Tong Zhang
{"title":"Neurological Disease Syndrome Caused by a STAG1 Gene Variant: A Case Report and Literature Review","authors":"Qi Zhang,&nbsp;Ying Ren,&nbsp;Song Su,&nbsp;Wandong Hu,&nbsp;Hongwei Zhang,&nbsp;Tong Zhang","doi":"10.1002/jdn.70030","DOIUrl":"https://doi.org/10.1002/jdn.70030","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case</h3>\u0000 \u0000 <p>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 &gt; A (p.Gly850Asp) locus.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A comprehensive literature review was conducted to summarize previously reported STAG1 variants and their associated clinical features.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 5","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jdn.70030","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144574167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Navigating the Autism Journey: Parental Experiences, Barriers and the Role of Early Intervention in India 导航自闭症之旅:父母的经历,障碍和早期干预在印度的作用
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-07-06 DOI: 10.1002/jdn.70029
Rahul Bharat, Uzaina Uzaina, Kakoli Das, Rincy Baptish
{"title":"Navigating the Autism Journey: Parental Experiences, Barriers and the Role of Early Intervention in India","authors":"Rahul Bharat,&nbsp;Uzaina Uzaina,&nbsp;Kakoli Das,&nbsp;Rincy Baptish","doi":"10.1002/jdn.70029","DOIUrl":"https://doi.org/10.1002/jdn.70029","url":null,"abstract":"<div>\u0000 \u0000 <p>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.</p>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 5","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144573471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association of Serum SOCS3 and Inflammatory Marker Levels With Cognitive Function in First-Episode Schizophrenia 首发精神分裂症患者血清SOCS3和炎症标志物水平与认知功能的关系
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-06-22 DOI: 10.1002/jdn.70027
Jiali Luo, Junjiao Ping, Jing Wan, Jianli Zhu, Ying Zhang, Jie Zhang, Tingyun Jiang
{"title":"Association of Serum SOCS3 and Inflammatory Marker Levels With Cognitive Function in First-Episode Schizophrenia","authors":"Jiali Luo,&nbsp;Junjiao Ping,&nbsp;Jing Wan,&nbsp;Jianli Zhu,&nbsp;Ying Zhang,&nbsp;Jie Zhang,&nbsp;Tingyun Jiang","doi":"10.1002/jdn.70027","DOIUrl":"https://doi.org/10.1002/jdn.70027","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Compared to healthy controls, individuals with first-episode SCZ exhibited significantly decreased serum SOCS3 levels (<i>p</i> &lt; 0.05) and elevated IL-6 levels (<i>p</i> &lt; 0.05), while no significant differences in CRP or IL-1β levels (<i>p</i> &gt; 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 (<i>p</i> &lt; 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.","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 4","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144339135","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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