International Journal of Developmental Neuroscience最新文献

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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}
引用次数: 0
The Effect of Transcranial Direct Stimulation Over Cerebellum and Suplementary Motor Area on Balance Functions in Healthy Young Adults: A Resting EEG-tDCS Study 经颅直接刺激小脑和辅助运动区对健康年轻人平衡功能的影响:静息EEG-tDCS研究
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-06-04 DOI: 10.1002/jdn.70026
Zeynep Soy, Mevhibe Saricaoglu, Ozden Erkan Ogul, Lutfu Hanoglu, Fatma Karantay Mutluay
{"title":"The Effect of Transcranial Direct Stimulation Over Cerebellum and Suplementary Motor Area on Balance Functions in Healthy Young Adults: A Resting EEG-tDCS Study","authors":"Zeynep Soy,&nbsp;Mevhibe Saricaoglu,&nbsp;Ozden Erkan Ogul,&nbsp;Lutfu Hanoglu,&nbsp;Fatma Karantay Mutluay","doi":"10.1002/jdn.70026","DOIUrl":"https://doi.org/10.1002/jdn.70026","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>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 (<i>p</i> &lt; 0.005). Moreover, there was a noticeable rise in resting-state beta-band power values from pre-tDCS to post-tDCS (<i>p</i> &lt; 0.001). Post hoc comparison analysis indicated a significant enhancement in beta power following cerebellar stimulation (<i>p</i> = 0.034). A correlation appeared between the increase in beta activation after cerebellar stimulation and the SEBT (<i>p</i> &lt; 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.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 4","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144214006","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
Age-Related Changes in Brain Network Modularity Based on the Dynamic Sliding-Window Subnetwork Voting Method 基于动态滑动窗口子网络投票方法的脑网络模块化年龄相关变化
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-06-03 DOI: 10.1002/jdn.70025
Jianxi Liu, Nannan Xia, Kang Hu, Mingcong Huang, Zeqiang Linli
{"title":"Age-Related Changes in Brain Network Modularity Based on the Dynamic Sliding-Window Subnetwork Voting Method","authors":"Jianxi Liu,&nbsp;Nannan Xia,&nbsp;Kang Hu,&nbsp;Mingcong Huang,&nbsp;Zeqiang Linli","doi":"10.1002/jdn.70025","DOIUrl":"https://doi.org/10.1002/jdn.70025","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Purpose</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>These changes are closely related to the decline in cognitive abilities and the degeneration of neural connections.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 4","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144206836","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
Serum Levels of Nitric Oxide, SIRT1, MMP-9 and Telomerase in Children With Cognitive Disengagement Syndrome 认知脱离综合征儿童血清一氧化氮、SIRT1、MMP-9和端粒酶水平的变化
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-06-02 DOI: 10.1002/jdn.70024
Sema Öznur Çeltik, Arif Önder, Berhan Akdağ, Sadıka Halide Akbaş, Berke Öztürk, Mehmet Emre Gül, Mehmet Fatih Bütün, Hilal Yazıcı Kopuz, Özge Gizli Çoban, Aslı Sürer Adanır
{"title":"Serum Levels of Nitric Oxide, SIRT1, MMP-9 and Telomerase in Children With Cognitive Disengagement Syndrome","authors":"Sema Öznur Çeltik,&nbsp;Arif Önder,&nbsp;Berhan Akdağ,&nbsp;Sadıka Halide Akbaş,&nbsp;Berke Öztürk,&nbsp;Mehmet Emre Gül,&nbsp;Mehmet Fatih Bütün,&nbsp;Hilal Yazıcı Kopuz,&nbsp;Özge Gizli Çoban,&nbsp;Aslı Sürer Adanır","doi":"10.1002/jdn.70024","DOIUrl":"https://doi.org/10.1002/jdn.70024","url":null,"abstract":"<div>\u0000 \u0000 <p>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.</p>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 4","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144190834","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
A Novel Homozygous Frameshift Variant of SACS Gene in the Turkish Siblings With Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) 常染色体隐性痉挛性共济失调(ARSACS)土耳其兄弟姐妹SACS基因纯合子移码变异
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-05-21 DOI: 10.1002/jdn.70023
Turgay Cokyaman, Zeynep Alara Saltik, Nihan Ecmel Turan
{"title":"A Novel Homozygous Frameshift Variant of SACS Gene in the Turkish Siblings With Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)","authors":"Turgay Cokyaman,&nbsp;Zeynep Alara Saltik,&nbsp;Nihan Ecmel Turan","doi":"10.1002/jdn.70023","DOIUrl":"https://doi.org/10.1002/jdn.70023","url":null,"abstract":"<div>\u0000 \u0000 <p>Pathogenic variants of sacsin (<i>SACS)</i> 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 <i>SACS</i> frameshift variant in two Turkish siblings. We detected a new homozygous frameshift variant of the <i>SACS</i> gene in the Turkish siblings diagnosed with ARSACS for the first time.</p>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 3","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144100624","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
Uncrossed Cerebellar Diaschisis in Hemimegalencephaly: Evaluated by FDG-PET and Diffusion Tensor Tractography 用FDG-PET和弥散张量束图评价半巨脑畸形的小脑分离
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-05-09 DOI: 10.1002/jdn.70022
Risa Kagaya, Hiroyuki Maki, Hiroshi Matsuda, Hirohito Kan, Yukio Kimura, Yoko Shigemoto, Tomoki Imokawa, Keiya Iijima, Masaki Iwasaki, Eiji Nakagawa, Noriko Sato
{"title":"Uncrossed Cerebellar Diaschisis in Hemimegalencephaly: Evaluated by FDG-PET and Diffusion Tensor Tractography","authors":"Risa Kagaya,&nbsp;Hiroyuki Maki,&nbsp;Hiroshi Matsuda,&nbsp;Hirohito Kan,&nbsp;Yukio Kimura,&nbsp;Yoko Shigemoto,&nbsp;Tomoki Imokawa,&nbsp;Keiya Iijima,&nbsp;Masaki Iwasaki,&nbsp;Eiji Nakagawa,&nbsp;Noriko Sato","doi":"10.1002/jdn.70022","DOIUrl":"https://doi.org/10.1002/jdn.70022","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>This study aimed to assess cerebrocerebellar connectivity in patients with hemimegalencephaly (HME) using <sup>18</sup>F-fluorodeoxyglucose positron emission tomography (FDG-PET) and diffusion tensor imaging (DTI), as uncrossed cerebellar diaschisis is often observed in patients with HME.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 3","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143925948","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
Impact of Prematurity and Neonatal Complications on the Development of Dyslexia 早产儿和新生儿并发症对阅读障碍发展的影响
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-05-04 DOI: 10.1002/jdn.70021
Miguel López-Zamora, Nadia Porcar-Gozalbo, Isabel López-Chicheri, Alejandro Cano-Villagrasa
{"title":"Impact of Prematurity and Neonatal Complications on the Development of Dyslexia","authors":"Miguel López-Zamora,&nbsp;Nadia Porcar-Gozalbo,&nbsp;Isabel López-Chicheri,&nbsp;Alejandro Cano-Villagrasa","doi":"10.1002/jdn.70021","DOIUrl":"https://doi.org/10.1002/jdn.70021","url":null,"abstract":"<p>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.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 3","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jdn.70021","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143905228","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
New Phenotypes Associated With Pathogenic RNASEH2B and SAMHD1 Variants 与致病性RNASEH2B和SAMHD1变异相关的新表型
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-04-30 DOI: 10.1002/jdn.70019
Ghada M. H. Abdel-Salam, Maha Eid, Manar A. El-Serafy, Heba El-Sayed, Mohamed S. Abdel-Hamid
{"title":"New Phenotypes Associated With Pathogenic RNASEH2B and SAMHD1 Variants","authors":"Ghada M. H. Abdel-Salam,&nbsp;Maha Eid,&nbsp;Manar A. El-Serafy,&nbsp;Heba El-Sayed,&nbsp;Mohamed S. Abdel-Hamid","doi":"10.1002/jdn.70019","DOIUrl":"https://doi.org/10.1002/jdn.70019","url":null,"abstract":"<div>\u0000 \u0000 <p>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 <i>RNASEH2B</i> (p.Ala177Thr) and <i>SAMHD1</i> (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 <i>SAMHD1</i>. As such, this extends the phenotypes linked to <i>SAMHD1</i> (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.</p>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 3","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143888931","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
High-Frequency Oscillations in Self-Limited Epilepsy With Centrotemporal Spikes: Potential Predictors of Attention Deficit Hyperactivity Disorder? 伴有中央颞叶尖峰的自限性癫痫的高频振荡:注意缺陷多动障碍的潜在预测因子?
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-04-29 DOI: 10.1002/jdn.70020
Pinar Ozkan Kart, Cihad Özdemir, Temel Kayikcioglu, Ali Cansu
{"title":"High-Frequency Oscillations in Self-Limited Epilepsy With Centrotemporal Spikes: Potential Predictors of Attention Deficit Hyperactivity Disorder?","authors":"Pinar Ozkan Kart,&nbsp;Cihad Özdemir,&nbsp;Temel Kayikcioglu,&nbsp;Ali Cansu","doi":"10.1002/jdn.70020","DOIUrl":"https://doi.org/10.1002/jdn.70020","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>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 (<i>p</i> = 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 (<i>p</i> = 0.009) and ripple ratio in the ‘Fz-Cz’ electrode were found to be statistically significantly higher in the SeLECTS + ADHD group (<i>p</i> = 0.009, <i>p</i> = 0.019, respectively).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 3","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143884087","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
Self-Esteem and Psychopathology Differentially Relate to Real-Life and Social Functioning in People With 22q11.2 Deletion Syndrome 22q11.2缺失综合征患者的自尊和精神病理与现实生活和社会功能的差异
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-04-24 DOI: 10.1002/jdn.70017
Tommaso Accinni, Georgios D. Kotzalidis, Emanuele Cerulli Irelli, Massimo Pasquini, Antonino Buzzanca
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