International Journal of Developmental Neuroscience最新文献

{"title":"Epigenetics, Resilience, Protective Factors and Factors Promoting Positive Outcomes: A Scoping Review","authors":"Simone G. Assis, Pedro H. Tavares, Nayara Oliveira, Fernanda Serpeloni, Joviana Q. Avanci","doi":"10.1002/jdn.70042","DOIUrl":"https://doi.org/10.1002/jdn.70042","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>While several studies have examined the relationship between adverse social exposures and epigenetic mechanisms, the association between DNA methylation, resilience, protective factors and factors that promote positive outcomes remains underexplored.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Goals</h3>\u0000 \u0000 <p>This study aims to analyse scientific publications on epigenetics, specifically focusing on DNA methylation in relation to resilience and individual/social protective/positive factors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>A scoping review was conducted using the descriptors DNA methylation, resilience, self-esteem, emotional regulation, social support and social and emotional functioning, covering the years 2008–2019. The databases used included Web of Science, PubMed and Embase. The analysis included 110 articles, reviewed for identification and profile, article focus, objectives, epidemiological and epigenetic methods, protective/positive factors and impacts on physical and mental health.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>There has been a significant, gradual increase in publications over the years, particularly regarding epidemiological studies involving human participants. Most studies utilized a candidate gene approach to assess DNA methylation, while broader genome-wide methylation profiles were less frequently examined. Histone modifications and noncoding RNAs were also discussed, especially in review articles. Resilience was identified as the most studied topic, with analyses focusing on (1) mental disorders, (2) parental mental health, (3) early life stress, (4) biological age and development, (5) clinical and physiological conditions and (6) environmental/socioeconomic factors. A wide variety of genes associating resilience and epigenetics were pointed out, for example, <i>NR3C1</i>, <i>SLC6A4</i>, <i>BDNF</i>, and <i>FKBP5</i>. Additionally, individual and social bonds and competencies such as social and emotional functioning, maternal care and social interaction among others were grouped as protective factors or that promote positive outcomes and were linked to genes such as <i>OXTR</i>, followed by <i>FKBP5</i> and <i>NR3C1</i>.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>The significance of epigenetics in neuroscience and its potential public health applications is still emerging. This field invites reflection on prevention and health promotion strategies and highlights growing e","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jdn.70042","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145317799","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":"Valproic Acid Exposure During the Brain Growth Spurt Leads to Autistic-Like Behaviours in Mice","authors":"Bruna Lotufo-Denucci,&nbsp;Monica Cena de Sousa,&nbsp;Nathan Alesi de Paula Aguiar,&nbsp;Danielle Paes-Branco,&nbsp;Vitor Hugo Santos Duarte Pinheiro,&nbsp;Ulisses César Araújo,&nbsp;Fernanda Uchoa Braga,&nbsp;Carolina Azevedo de Souza,&nbsp;Anderson Ribeiro-Carvalho,&nbsp;Yael Abreu-Villaça,&nbsp;Alex C. Manhães,&nbsp;Cláudio C. Filgueiras","doi":"10.1002/jdn.70056","DOIUrl":"10.1002/jdn.70056","url":null,"abstract":"<div>\u0000 \u0000 <p>Prenatal exposure to valproic acid (VPA) has been associated with an increased risk of autism spectrum disorder (ASD). Studies in rodents have demonstrated that VPA exposure during the first trimester-equivalent period of gestation results in a lifelong autistic-like phenotype. A growing body of evidence suggests that VPA exposure may be a risk factor for ASD beyond the first trimester of pregnancy. Here, we investigated in adolescent Swiss mice the neurobehavioural effects of exposure to VPA during the brain growth spurt, a period that encompasses the third trimester of human gestation. Offspring received ip injections of VPA (200 mg/kg) or saline solution (NaCl 0.9%) on alternate days, from Postnatal Day 2 (PN2) to PN8. Animals were behaviourally tested either as juveniles (PN12: sociability [aggregation]) or adolescents (PN30: anxiety-like behaviour [elevated plus maze], locomotor activity [open field], repetitive behaviour [marble burying] and sociability [reciprocal social interaction and three-chamber test]). At PN33, serotonin serum levels and frontal cortical norepinephrine, dopamine and DOPAC were evaluated by HPLC. No differences were observed at PN12. Adolescent VPA mice showed increased anxiety-like behaviour, hyperactivity and reduced repetitive behaviour. Lower sociability was identified in the reciprocal social interaction. However, in the three-chamber test, social behaviour was higher in the VPA group. It also showed higher serotonin, but no other neurotransmitter level effects were observed. The results support the idea that the period of brain growth spurt may be relevant for the manifestation of neurobehavioural deficits associated with ASD induced by VPA.</p>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145206344","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":"Clinical, Genetic and Molecular Divergences Between Full Mutation and Premutation in Fragile X Syndrome: A Systematic Review","authors":"Hajar Souski,&nbsp;Yousra Benmakhlouf,&nbsp;Mohcine Bennani Mechita","doi":"10.1002/jdn.70054","DOIUrl":"10.1002/jdn.70054","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Fragile X syndrome (FXS) is the most prevalent inherited form of intellectual disability (ID) and the primary monogenic cause of autism spectrum disorder (ASD) worldwide. The disorder arises from a CGG trinucleotide expansion of more than 200 repeats, known as a full mutation (FM) that occurs in the <i>fragile X messenger ribonucleoprotein 1 (FMR1</i>) gene locus at Xq27.3. This expansion induces hypermethylation of the gene's promoter region, leading to epigenetic silencing and a consequent reduction in the expression of the <i>FMR1</i> (FMRP)—a protein critical for synaptic plasticity and maturation. While the genetic basis of FXS is well established, further clarification is needed to understand how variations in the <i>FMR1</i> gene lead to divergent clinical outcomes. This systematic review explores the differences in clinical features, genetic variations and molecular mechanisms between individuals with a FM, clinically diagnosed with FXS and premutation (PM) carriers with fragile X premutation–associated conditions (FXPAC), with a focus on implications for improving support for individuals with ID and their families.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Three databases (PubMed, Web of Science and Scopus) were systematically searched, guided by a variety of keywords, to identify qualitative, empirical research about clinical, genetic and molecular differences between FM and PM carriers. A total of 62 articles were examined, and 44 were included in the review.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The information is presented in the following categories: clinical features, genetic variations, molecular mechanisms, diagnostics and treatments. Three primary themes are discussed: (1) variability in clinical manifestations, (2) genetic insights and diagnostic advancements and (3) current and emerging management strategies. Research gaps are also highlighted along with perspectives and implications for further research.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The identification and treatment of FXS and FXPAC remains a major public health and clinical concern. This systematic literature review provides a more robust understanding of FXS and the clinical, genetic and molecular distinctions between FM and PM carriers. Despite growing knowledge of the condition, significant efforts are still required to refine diagnostic tools, develop targeted interventions and support individuals and families affected by FXS.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145124695","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":"Therapeutic Effect of LEV in a Propionic Acid-Induced Autism Model via AMPK/SIRT1 Pathway","authors":"Tarık Mecit,&nbsp;İlknur Altuntaş,&nbsp;Mümin Alper Erdoğan,&nbsp;Yiğit Uyanıkgil,&nbsp;Oytun Erbaş","doi":"10.1002/jdn.70055","DOIUrl":"10.1002/jdn.70055","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Objectives&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;In this study, we aimed to evaluate the therapeutic effect of levetiracetam (LEV), an antiepileptic drug used in the treatment of both focal and generalized epilepsy, in a propionic acid (PPA)-induced autism model by assessing social deficits, learning and memory impairments, and their neurochemical correlates. We further examined the involvement of the AMPK/SIRT1 signalling pathway as a potential molecular mechanism.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Material and Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Thirty male Wistar albino rats were allocated into three groups: normal control (&lt;i&gt;n&lt;/i&gt; = 10), PPA + saline (&lt;i&gt;n&lt;/i&gt; = 10) and PPA + LEV (&lt;i&gt;n&lt;/i&gt; = 10). Autism-like features were induced by intraperitoneal PPA administration (250 mg/kg/day, 5 days). LEV was administered orally (100 mg/kg/day) for 15 days. Behavioural performance (three-chamber sociability test, open-field test, passive avoidance learning), biochemical markers (malondialdehyde [MDA], tumour necrosis factor-alpha [TNF-α], brain-derived neurotrophic factor [BDNF], AMPK, and SIRT1) and histopathological changes (neuronal counts in CA1, CA3, Purkinje cells; GFAP immunostaining) were evaluated.&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;In the sociability test, social interaction time decreased by 51.6% in the PPA + saline group compared to controls (67.2% ± 2.4% vs. 32.5% ± 2.1%), while LEV increased it by 121.8% vs. PPA + saline (72.1% ± 4.5%). Open-field ambulation decreased by 83% in PPA + saline (17.3 ± 3.2 vs. 2.9 ± 0.8) and increased by 158% with LEV (7.5 ± 2.16). Passive avoidance latency decreased by 76% in PPA + saline (245.9 ± 17.5 s vs. 59.2 ± 20.8 s) and increased by 180% with LEV (165.7 ± 18.3 s). MDA levels increased by 187% in PPA + saline vs. controls (49.9 ± 1.4 vs. 143.5 ± 4.7 nmol/g protein) and decreased by 31% with LEV (98.6 ± 5.4). TNF-α increased by 1012% in PPA + saline (13.1 ± 0.9 vs. 145.8 ± 10.6 pg/mg protein) and decreased by 39% with LEV (88.4 ± 3.9). BDNF decreased by 52% in PPA + saline (5.21 ± 0.9 vs. 2.48 ± 0.3 pg/mg protein) and increased by 88% with LEV (4.66 ± 0.5). AMPK decreased by 62% in PPA + saline (113.5 ± 6.3 vs. 43.2 ± 7.5 pg/mg protein) and increased by 73% with LEV (74.8 ± 2.1). SIRT1 decreased by 75% in PPA + saline (4.65 ± 0.5 vs. 1.17 ± 1.1 pg/mg protein) and increased by 132% with LEV (2.72 ± 0.8). Histologically, CA1 neuronal counts decreased by 35% in PPA + saline (67.2 ± 2.04 vs. 43.8 ± 1.1) and increased by 38% with LEV (60.5 ± 1.3). CA3 neuronal counts decreased by 31% in PPA + saline (48.5 ± 3.2 vs. 33.7 ± 1.9) and increased by 31% with LEV (44.2 ± 0.8). Purkinje cells decreased by 53% in PPA + saline (26.2 ± 0.5 vs. 12.2 ± 0.8) and increased by 68% with LEV (20.5 ± 1.1). GFA","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145085922","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":"Identification of a Novel TRIT1 Mutation in a Consanguineous Iranian–Azeri–Turkish Family With Global Developmental Delay","authors":"Fatemeh Beyad,&nbsp;Mortaza Bonyadi,&nbsp;Mohammad Barzegar","doi":"10.1002/jdn.70053","DOIUrl":"https://doi.org/10.1002/jdn.70053","url":null,"abstract":"<div>\u0000 \u0000 <p>Global developmental delay (GDD) and intellectual disability (ID) affect up to 3% of the paediatric population, with a multifactorial aetiology that complicates genetic identification. To date, over 400 genes have been implicated in GDD. Here, we report a novel homozygous splice acceptor variant, NC_000001.11(NM_017646.6):c.1235-3C&gt;G, in the <i>TRIT1</i> gene, classified as ‘likely pathogenic’ through bioinformatics analysis. The proband, a 5-year-old male from a consanguineous family, presented with severe GDD, microcephaly, progressive spasticity, contractures, dysmorphic features (low-set ears, high-arched palate, simian creases and hypospadias), and refractory seizures (focal motor clonic, generalized myoclonic, and tonic) since 6 months of age. Brain MRI revealed nonspecific atrophy, while metabolic, laboratory and electrophysiological evaluations were unremarkable. To further assess the variant's frequency, we screened 430 healthy individuals from the same ethnic group and found no occurrences of the variant. Notably, this variant has not been documented in any published population databases, including gnomAD, the 1000 Genomes Project, Genome Asia, GME Variome and Iranome, despite coverage of the locus in these databases. Taken together, these findings strongly support the potential pathogenicity of the variant. In addition, the prenatal diagnosis results from the subsequent pregnancy in this family showed that the embryo was heterozygous for the mutation. The baby was born, and follow-up studies indicated that she was healthy, with no clinical manifestations observed in her affected brother. This further supports the classification of the variant as ‘likely pathogenic.’ This study expands the phenotypic spectrum of <i>TRIT1</i>-related disorders.</p>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144998727","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":"Integrative Analysis of Key Signalling Pathways in Neural Tube Defects: From Molecular Mechanisms to Therapeutic Strategies","authors":"Jiahao Zheng,&nbsp;Desheng Huo,&nbsp;Kaizhong Wang,&nbsp;Hui Zhao","doi":"10.1002/jdn.70051","DOIUrl":"https://doi.org/10.1002/jdn.70051","url":null,"abstract":"<p>Neural tube defects (NTDs), such as anencephaly and spina bifida, are prevalent congenital anomalies of the central nervous system. These defects can give rise to severe lifelong disabilities and incur substantial healthcare expenses for the affected individuals. The occurrence of NTDs is caused by multiple factors, including molecular regulatory mechanisms and environmental factors. This article comprehensively reviews the underlying mechanisms of three crucial signalling pathways associated with neural tube development: the Wnt/Planar Cell Polarity (PCP) signalling pathway, the Sonic Hedgehog signalling pathway and the Notch signalling pathway, and, on this basis, delves into the potential molecular therapeutic strategies for NTDs. This review is of great significance for comprehensively elucidating the molecular causes of NTDs and expanding prevention and treatment strategies for related congenital anomalies.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jdn.70051","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144929761","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":"Ketogenic Diet in Niemann-Pick Type C: Insights From a Case Report","authors":"Bahar Kulu,&nbsp;Pelin Teke Kısa,&nbsp;Esra Er,&nbsp;Serdar Pekuz,&nbsp;Zeynep Akisin,&nbsp;Serdar Ceylaner,&nbsp;Nur Arslan","doi":"10.1002/jdn.70052","DOIUrl":"https://doi.org/10.1002/jdn.70052","url":null,"abstract":"<div>\u0000 \u0000 <p>Niemann-Pick disease type C (NPC) is a lysosomal storage disorder characterized by progressive neurological deterioration. Although there is no curative treatment, early initiation of miglustat, prior to significant neurological decline, may slow disease progression.</p>\u0000 <p>This case report describes a patient whose initial symptoms emerged around age 9 and who was diagnosed with NPC at age 14 following gradual neurological decline. Despite being treated with miglustat, the patient's neurological symptoms worsened significantly. A high-ratio ketogenic diet (KD), based on fat to protein plus carbohydrate, was initiated as an adjunctive therapy. Following dietary modification, neurological findings stabilized. An initially abnormal electroencephalogram (EEG) normalized during follow-up. Due to significant weight loss, financial constraints and adherence difficulties, the KD ratio was reduced to 1:1 by the sixth month. At the time of the last evaluation, the patient had been maintained on the low-ratio KD for 4 years with continued adherence. The ketogenic diet is known to offer therapeutic benefits in various neurological disorders. In NPC patients treated with miglustat—particularly those experiencing seizures—a ketogenic diet may support neurological stabilization. A lower ratio KD may enhance long-term compliance.</p>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144929759","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":"Selumetinib Treatment in a Neurofibromatosis Type 1 Child With Second Hit Mutation on the NF1 Gene","authors":"Song Su,&nbsp;Yuexia Bai,&nbsp;Yi Lu,&nbsp;Ying Ren,&nbsp;Wenchao Zhang,&nbsp;Guangyu Wang,&nbsp;Kai Ma,&nbsp;Hongwei Zhang","doi":"10.1002/jdn.70049","DOIUrl":"https://doi.org/10.1002/jdn.70049","url":null,"abstract":"<p>Neurofibromatosis type 1 (<i>NF1</i>) is an autosomal dominant genetic disorder, with plexiform neurofibromas occurring in approximately 20%–50% of patients. A 12-year-old girl underwent surgery due to unbearable pain caused by diffuse neurofibromas. Postoperatively, the girl exhibited rapid growth and extremely extensive plexiform neurofibromas, with multiple plexiform neurofibromas that were inoperable. Through high-throughput sequencing (HTS), genetic molecular analysis was conducted on the peripheral blood samples of the child, and it was found that there was a splice site mutation c.3113 + 1G &gt; A in the <i>NF1</i> gene. Additionally, we identified a pathogenic variant c.2033dup (Ile679Aspfs*21), citing ClinVar and PMID: 77655472 to confirm its established pathogenicity in the paraffin-embedded section sample of the diffuse neurofibroma, which was exclusively found in the girl's plexiform neurofibroma. This ‘second-hit’ mutation could explain the rapid growth of the diffuse neurofibroma. The patient was effectively treated with oral administration of the selective MEK inhibitor selumetinib, resulting in rapid tumour regression. The treatment has shown promising efficacy against the rapid tumour growth induced by the patient's ‘second-hit’ mutation.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jdn.70049","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144927472","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":"Polyvagal Theory and Neonatal Sleep: A Review of Autonomic Regulation and Implications for Sudden Infant Death Syndrome","authors":"Sevgi Beyazgül,&nbsp;Shahla Shafaati Laleh","doi":"10.1002/jdn.70050","DOIUrl":"https://doi.org/10.1002/jdn.70050","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Neonatal sleep is critical for brain maturation and autonomic nervous system regulation. Disruptions in sleep patterns and vagal tone may contribute to the risk of sudden infant death syndrome (SIDS).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This narrative review summarizes current evidence on the relationship between neonatal sleep states, autonomic nervous system maturation and polyvagal theory.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Studies suggest that vagal activity modulates neonatal sleep states, with implications for both emotional and physiological development. Premature infants may display immature vagal pathways, increasing their vulnerability to sleep-related disorders and SIDS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The polyvagal framework offers a useful lens for understanding neonatal sleep regulation and guiding strategies for SIDS prevention and healthy neonatal care. Further research is warranted.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144929760","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":"Seizure Activity and Hypoxia Differentially Regulate Endogenous Neurotrophic Activin A and Neuroglobin Expression in the Immature Mouse Brain","authors":"Clara Becker,&nbsp;Susan Jung,&nbsp;Regina Trollmann","doi":"10.1002/jdn.70048","DOIUrl":"https://doi.org/10.1002/jdn.70048","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Objectives&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;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.&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;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&lt;sub&gt;2&lt;/sub&gt; 8% for 6 h) and the prolyl hydroxylase inhibitor (PHI) FG-4497, which stabilizes cerebral HIF accumulation.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; &lt;b&gt;Results&lt;/b&gt; (Mean ± SEM)&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;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, &lt;i&gt;p&lt;/i&gt; &lt; 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 (&lt;i&gt;p&lt;/i&gt; &lt; 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, &lt;i&gt;p&lt;/i&gt; &lt; 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.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Conclusions&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;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 hyp","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 5","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144894050","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}