International Journal of Developmental Neuroscience最新文献

{"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}

{"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}

{"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}

{"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}

{"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}

{"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":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Background&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;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.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;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.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Compared to healthy controls, individuals with first-episode SCZ exhibited significantly decreased serum SOCS3 levels (&lt;i&gt;p&lt;/i&gt; &lt; 0.05) and elevated IL-6 levels (&lt;i&gt;p&lt;/i&gt; &lt; 0.05), while no significant differences in CRP or IL-1β levels (&lt;i&gt;p&lt;/i&gt; &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 (&lt;i&gt;p&lt;/i&gt; &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}

{"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}

{"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}

{"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}

{"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}