International Journal of Developmental Neuroscience最新文献

{"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}

{"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}

{"title":"Self-Esteem and Psychopathology Differentially Relate to Real-Life and Social Functioning in People With 22q11.2 Deletion Syndrome","authors":"Tommaso Accinni,&nbsp;Georgios D. Kotzalidis,&nbsp;Emanuele Cerulli Irelli,&nbsp;Massimo Pasquini,&nbsp;Antonino Buzzanca","doi":"10.1002/jdn.70017","DOIUrl":"https://doi.org/10.1002/jdn.70017","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The 22q11.2 deletion syndrome (22q11.2DS) represents a genetic condition at higher risk of transition to psychosis. Both self-esteem (SE), intended as self-evaluation based on cognitive and affective elements, and psychotic symptoms may be associated with patients' real-life functioning. We investigated whether these variables differently correlate with real-life functioning in 22q11.2DS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We recruited 22 patients with 22q11.2DS (DEL, <i>N</i> = 22) and 10 with 22q11.2DS and psychosis (DEL-SCZ, <i>N</i> = 10); we administered the Positive And Negative Syndrome Scale (PANSS), the Specific Levels of Functioning scale (SLoF) and the Self Esteem Rating Scale (SERS).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The DEL-SCZ and DEL groups did not significantly differ on the SERS (<i>p</i> = 0.228). The DEL group scored higher than DEL-SCZ on the SLoF-total (<i>p</i> = 0.006) and on the SLoF-social functioning (<i>p</i> = 0.031). PANSS-total negatively correlated with SLoF-total scores (<i>ρ</i> = −0.698; <i>p</i> &lt; 0.001), with the SLoF-social functioning (<i>ρ</i> = −0.643; <i>p</i> &lt; 0.001) and with SERS (<i>ρ</i> = −0.391; <i>p</i> = 0.036). SERS scores positively correlated with SLoF-total (<i>ρ</i> = 0.545; <i>p</i> = 0.003) but not with SLoF-social functioning.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion and Conclusions</h3>\u0000 \u0000 <p>DEL and DEL-SCZ display similar levels of SE suggesting that this psychological dimension is not associated with psychotic symptoms. Levels of SE and psychopathology differentially relate to real-life and social functioning in people with 22q11.2DS: Symptom severity is particularly associated with patients' social and interpersonal functioning. Psychological supportive interventions might be useful to improve real-life functioning in people with 22q11.2DS.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 2","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jdn.70017","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143865670","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":"Music Aggravates Catechol-Induced Behavioural Abnormality and Redox Imbalance in Zebrafish","authors":"Yaqian Xiao,&nbsp;Dechang Rong,&nbsp;Hongjia Ye,&nbsp;Yifan Duan,&nbsp;Lichen Qiao,&nbsp;Lanlan Zuo,&nbsp;Lingtong Liu,&nbsp;Hasan Bayram,&nbsp;Jun Wang","doi":"10.1002/jdn.70018","DOIUrl":"https://doi.org/10.1002/jdn.70018","url":null,"abstract":"<div>\u0000 \u0000 <p>Catechol, also known as pyrocatechol, is a widespread antioxidant carcinogen that has been shown to cause central nervous system damage and metabolic abnormalities, and in zebrafish, it has been shown that exposure to aqueous solutions of catechol results in reduced pigmentation and decreased basal locomotor rate in juvenile zebrafish. However, the effects of catechol on zebrafish redox and behaviour are unknown. The aim of this study was to investigate the effects of catechol on oxidative stress levels in early zebrafish development and on behaviour in later stages of zebrafish development and to attempt to intervene in this effect with music therapy. We exposed zebrafish adults and juveniles to catechol separately, tested zebrafish juveniles for various redox indices and found that zebrafish juveniles had increased levels of reactive oxygen species and decreased total antioxidant capacity and lipid peroxidation capacity, and we tested zebrafish adults for behavioural studies and found that anxiety behaviours increased as social cohesion decreased. We then conducted a music therapy intervention for catechol exposure in adult zebrafish and found that music therapy exacerbated catechol-induced behavioural abnormalities and altered oxidative levels, whether zebrafish were exposed to both catechol and classical music or whether the catechol exposure was followed by a 12-day classical music intervention after 12 days of catechol exposure. In summary, this study revealed for the first time that catechol caused redox imbalance in juvenile zebrafish and socially disturbed, anxious behaviour in adults and found that music treatment worsened this behavioural abnormality. This study provides new insights into the effects of catechol on zebrafish and suggests that the therapeutic effects of music therapy may have a double-edged effect.</p>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 2","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143865669","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":"Small SNPs, Big Effects: A Review of Single Nucleotide Variations and Polymorphisms in Key Genes Associated With Autism Spectrum Disorder","authors":"Sriharikrishnaa Srinath,&nbsp;Akanksha Kalal,&nbsp;Preethika Anand,&nbsp;Satyajit Mohapatra,&nbsp;Prabahan Chakraborty","doi":"10.1002/jdn.70016","DOIUrl":"https://doi.org/10.1002/jdn.70016","url":null,"abstract":"<div>\u0000 \u0000 <p>Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterised by significant genetic variation. This article examines genetic alterations linked to ASD, with a specific emphasis on single nucleotide polymorphisms (SNPs) and single nucleotide variants (SNVs). Recent genome-wide association studies (GWAS) have identified several genetic variations associated with ASD. Although their precise roles remain unclear, such genetic polymorphisms and variations significantly influence several neurodevelopmental processes. Mutations in <i>SHANK3</i> and <i>NRXN1</i>, for example, disrupt synaptic activity and neurotransmission, contributing to ASD and intellectual deficits. Similarly, <i>PTEN</i> and <i>MECP2</i>, crucial for brain development, are associated with abnormal cell proliferation and neurodevelopmental disorders when mutated. <i>CHD8</i>, a key regulator of chromatin remodelling, is strongly linked to ASD, with its mutations impacting transcriptional regulation and neurodevelopment, while mutations in <i>SCN2A</i> disrupt neuronal excitability and synaptic transmission. In this review, we discuss SNPs and SNVs across these six key genes, to summarise their impact on the aetiology of ASD. A shift of focus in autism genetics giving equal importance to minor variations is critical to better understand the intricate aetiology of ASD and to create specific treatment strategies.</p>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 2","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143826865","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":"Evaluation of Orexin-A, Adiponectin and Apelin-13 Serum Levels in Children Diagnosed With Attention Deficit Hyperactivity Disorder","authors":"Serdar Avunduk,&nbsp;Ömer Başay,&nbsp;Süleyman Demir,&nbsp;Ayşen Çetin Kardeşler","doi":"10.1002/jdn.70014","DOIUrl":"https://doi.org/10.1002/jdn.70014","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study investigates the role of orexin-a, adiponectin (HMWA) and apelin-13 serum levels in the etiopathogenesis of attention deficit hyperactivity disorder (ADHD), a neurodevelopmental disorder with unclear aetiology involving neuropathological, genetic and environmental factors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The study involved 37 children with ADHD and 35 healthy controls, aged 6–18 years, with no history of other physical or psychiatric illnesses and no psychotropic medication use in the last 6 months. Serum levels of orexin-a, adiponectin (HMWA) and apelin-13 were measured using enzyme-linked immunosorbent assay (ELISA). ADHD symptoms were assessed through Diagnostic and Statistical Manual of Mental Disorders-5 (DSM-5)–based clinical interviews, Conners Parent and Teacher Rating Scales and Wisconsin Card Sorting Test.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>No significant differences in serum orexin-a, adiponectin (HMWA) and apelin-13 levels were found between the ADHD and control groups. Additionally, there was no relationship between orexin-a, apelin-13 and adinopectin levels and ADHD symptoms and Wisconsin Card Sorting Test results. Analysis of adiponectin levels in preadolescent children aged 6–11, adjusting for age and BMI, revealed a statistically significant reduction in the ADHD group (<i>p</i> = 0.002).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The results did not demonstrate any correlation between ADHD and the levels of orexin-a and apelin-13. However, the study revealed that children with ADHD, aged 6–11, exhibited decreased adiponectin concentrations. These results suggest that a decrease in serum adinopectin levels may be associated with ADHD in children.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 2","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143726835","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":"Retinal Nerve Fibre Layer Thickness, Maküler Thickness and Macular Volume in Children With Intellectual Disability","authors":"Umut Karaaslan,&nbsp;Hatice Altun,&nbsp;Ayşegül Çömez","doi":"10.1002/jdn.70013","DOIUrl":"https://doi.org/10.1002/jdn.70013","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>It was aimed to investigate retinal nerve fibre layer (RNFL) thickness, macular thickness and macular volume and the relationship between these parameters and the Weschler Intelligence Scale for Children (WISC-R) in children with intellectual disability (ID).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The study included 41 (27 male and 14 female) patients of ages 7–18 who were diagnosed with ID and 41 age- and sex-matched healthy individuals (24 male and 17 female). WISC-R intelligence test was applied with all the participants, and the parents were asked to fill out a Sociodemographic Data Form and the Strengths and Difficulties Questionnaire (SDQ). The RNFL, macular thickness and macular volume were examined by optical coherence tomography (OCT).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The RNFL was lower in all the quadrants (nasal, temporal, superior and inferior) in the patient group, but this thinness was not statistically significant in comparison to the control group. The left eye central macular and lest eye mean macular thicknesses were significantly lower in the patient group (respectively, <i>p</i> = 0.030, <i>p</i> = 0.048). Though not statistically significant, other all macular thickness and volume values were lower in the patient group in comparison to the control group. In the patient group, a weak negative correlation was observed between the performance subscore of the WISC-R and the RNFL values of the right eye inferior quadrant, as well as the left eye inferior and temporal quadrants (respectively, <i>r</i> = −0.329, <i>p</i> = 0.036; <i>r</i> = −0.308, <i>p</i> = 0.050; <i>r</i> = −0.309, <i>p</i> = 0.050). Additionally, a weak negative correlation was found between the total WISC-R scores and the RNFL values of the left eye temporal quadrant (<i>r</i> = −0.318, <i>p</i> = 0.043).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This study suggests that macular thickness are reduced in ID patients but show no statistically significant changes in the RNFL. Lower macular thickness may potentially be linked to the brain abnormalities seen in ID, given the shared developmental origin of the retina and central nervous system. Further studies are needed to determine the potential application of OCT as a tool for diagnosing and monitoring the progression of this disease.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 2","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143707598","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":"Correction to ‘Agmatine Ameliorates Valproic Acid-Induced Depletion of Parvalbumin-Positive Neuron’","authors":"","doi":"10.1002/jdn.70015","DOIUrl":"https://doi.org/10.1002/jdn.70015","url":null,"abstract":"<p>\u0000 <span>Khoram-Abadi, K. M.</span>, <span>Basiri, M.</span>, <span>Nemati, M.</span>, &amp; <span>Nozari, M.</span> (<span>2024</span>). <span>Agmatine ameliorates valproic acid-induced depletion of parvalbumin-positive neuron</span>. <i>International Journal of Developmental Neuroscience</i>, <span>84</span>(<span>2</span>), <span>134</span>–<span>142</span>. https://doi.org/10.1002/jdn.10314.\u0000 </p><p>Figures 2, 3 and 4 unexpectedly contain similar images across the different experimental groups. The authors may have unintentionally mixed them up, and mistakes could have occurred during the figure assembly process.</p><p>The correct figures are provided below:</p><p>The authors apologise for any inconvenience this error may have caused.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 2","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jdn.70015","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143698925","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":"A Novel KMT2E Splicing Variant as a Cause of O'Donnell–Luria–Rodan Syndrome With West Syndrome: Expansion of the Phenotype and Genotype","authors":"Qianyun Cai,&nbsp;Fan Feng,&nbsp;Haijiao Wang,&nbsp;Yanmei Tian,&nbsp;Rong Luo,&nbsp;Fan Yang,&nbsp;Xiao Qian,&nbsp;Zhongjie Zhou","doi":"10.1002/jdn.70012","DOIUrl":"https://doi.org/10.1002/jdn.70012","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>O'Donnell–Luria–Rodan (ODLURO) syndrome is an autosomal dominant disorder associated with <i>KMT2E</i> gene variants. ODLURO syndrome is characterized mainly by developmental delay, intellectual disability and macrocephaly or microcephaly; in some patients, it may manifest as autism or epilepsy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Trio whole-exome sequencing was performed on a female infant with unexplained West syndrome and developmental regression. A de novo splicing variant in the <i>KMT2E</i> gene was identified. The effects of this variant were analysed via a minigene splice assay and in vitro reverse transcription PCR.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The patient presented with spasmodic seizures and developmental delay at 6 months of age. The video electroencephalogram (EEG) displayed hypsarrhythmia. Brain MRI revealed abnormal signals around the lateral ventricles and decreased white matter volume. A novel splicing variant in the <i>KMT2E</i> gene (NM_182931.3: c.1248_1248+9del) was identified in our proband. Sanger sequencing confirmed that the variant was not inherited from her parents. The in vitro minigene assay confirmed that c.1248_1248+9del resulted in exon 12 skipping.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>To our knowledge, this is the first definite report of ODLURO syndrome with West syndrome as the original manifestation. The deleterious effects of <i>KMT2E</i> c.1248_1248+9del were demonstrated in our proband. Splicing variants in the <i>KMT2E</i> gene are rare, and our study expands the phenotype and genotype of ODLURO syndrome. Additional studies are needed to explore the genotype–phenotype correlations of this disease.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 2","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143595189","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":"Assessment of Empathy-Like Behaviour in Valproic Acid–Induced Rat Model of Autism","authors":"Süeda Tunçak,&nbsp;Bülent Gören,&nbsp;Tayfun Uzbay,&nbsp;Pınar Öz","doi":"10.1002/jdn.70008","DOIUrl":"https://doi.org/10.1002/jdn.70008","url":null,"abstract":"<div>\u0000 \u0000 <p>Prenatal VPA exposure is used to model ASD-like symptoms. Disrupted empathy is frequently observed in individuals with ASD, but empathy-like behaviour is not well documented in animal models. Pregnant Wistar Albino rats were administered either 400 mg/kg VPA or saline i.p. on E12.5. Empathy-like behaviour was assessed at P30 and P60 in both female and male offspring, who were also tested for olfactory discrimination, sociability, locomotor activity, and pre-pulse inhibition. Prenatal exposure to VPA significantly impaired empathy-like behaviour, as measured by the duration of time the subject spent with its sibling and the frequency of attempts to open the restrainer door. When P30 and P60 results were compared within groups, a developmental arrest in empathy-like behaviour was observed in the VPA group, whereas the control group showed improvement in their scores. Prenatal exposure to VPA also resulted in significantly decreased sociability and pre-pulse inhibition rates. In this study, an adapted version for measuring empathy-like behaviour has been proposed. This version involved a restrained sibling and no prior training, allowing the measurement to be independent of learning, memory, and stranger anxiety. The results show that VPA has negative effects on social development and is a valid tool for modelling ASD in both females and males.</p>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 2","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143555060","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}