International Journal of Developmental Neuroscience最新文献

{"title":"Folinic acid as a treatment for autism in children: A within-subjects open-label study on safety and efficacy","authors":"Chui Mae Wong,&nbsp;Charmain Samantha Tan,&nbsp;Hwan Cui Koh,&nbsp;Xinyi Gan,&nbsp;Szu Liang Hie,&nbsp;Seyed Ehsan Saffari,&nbsp;Joo Guan Yeo,&nbsp;Joyce Ching Mei Lam","doi":"10.1002/jdn.10402","DOIUrl":"https://doi.org/10.1002/jdn.10402","url":null,"abstract":"<p>The folate cycle has been implicated in the pathophysiology of autism due to its role in the glutathione oxidative stress pathway, amino acid and DNA methylation reactions, and neurotransmitter synthesis pathway. Previous research on folinic acid supplementation in autistic children has suggested potential benefits. The primary aim of this pilot study was to determine the safety, feasibility and efficacy of oral folinic acid in improving communication and behaviour in autistic children. Ten autistic children were recruited into an open-label pre-post treatment within-subjects design study. At <i>T</i> = 0, 12 and 24 weeks, participants underwent safety evaluations, standardized assessments of language, autism symptoms, adaptive skills and global illness severity, and eye-gaze tracking. During the control period (0–12 weeks), participants continued with standard care. In the treatment period (12–24 weeks), participants took oral folinic acid at 2 mg/kg/day. All 10 children (nine boys, one girl; aged 4–8 years), successfully consumed oral folinic acid supplements with no adverse events. There was a reduction in Pervasive Developmental Disorder Behavior Inventory (PDDBI) Autism Composite T-score with treatment (mean [SD] T-score 49.2 [8.89] pre-treatment, 44.6 [6.19] post-treatment, <i>p</i> = 0.103). Although this difference was not statistically significant due to the small sample size, the effect size was medium-large, indicating that, as a group, there were clinically meaningful changes in PDDBI T-scores. There were also trends towards gains in communication scores and overall Clinical Global Impression scores. Folinic acid is a safe and feasible potential treatment for autism, and results from this pilot justify the need for a larger placebo-controlled trial.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142861613","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 tactile stimulation on spatial memory and hippocampal neuronal density in male rats with sensory deprivation during a critical period","authors":"Suheda Ozkan,&nbsp;Pınar Oz,&nbsp;Yaren Erdogan,&nbsp;Melisa Akpinar,&nbsp;Aya Sahsahi,&nbsp;Zehra Gecen","doi":"10.1002/jdn.10404","DOIUrl":"10.1002/jdn.10404","url":null,"abstract":"<p>It is well known that sensory information driven from whiskers serves as an example of tactile perception in rodents, and plays an important role in social behavior, environmental exploration, and decision-making processes, the influence of manipulations performed during the development of whiskers, on learning has been received little attention in the literature. This study aimed to evaluate the effect of tactile stimulation (TS) on spatial memory performance and neuronal density in the hippocampus during adulthood in early sensory-deprived rats. Wistar albino male rats were divided into four groups: control (CTL), bilateral whisker trimming (BWT), tactile stimulation (TS), and bilateral whisker trimming+tactile stimulation (BWT + TS). All whiskers were trimmed between P0–10, a critical period for whisker development. TS was applied from P3 to P21 using a soft brush. In this study, the 8-arm radial maze test was conducted from postnatal days 77 to 81 to assess spatial memory Animals sacrificed by intracardial perfusion and neuronal density in CA1, CA3, vDG, and dDG regions of the hippocampus were evaluated by Nissl staining. TS exposure negatively affected spatial memory performance and hippocampal neuronal density compared to BWT. We conclude that TS in healthy offspring can cause stress by interrupting maternal care, given the vulnerability of early development. On the contrary, the sensory deprivation protocol in this study was terminated at a time of high homeostatic plasticity and did not produce complete whisker deprivation, have triggered learning by inducing moderate stress early in development.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142817993","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":"Breaking boundaries: A systematic review of the application of non-invasive brain stimulation symptoms and sleep parameters in people with ADHD","authors":"Renato Mendes dos Santos,&nbsp;Victor Marinho,&nbsp;Sabrina Nayara de Araújo Val,&nbsp;Ariel Soares Teles,&nbsp;Daniel Lima Sousa,&nbsp;Victor Hugo do Vale Bastos,&nbsp;Leonardo Peres de Souza,&nbsp;Angelina Ketllen Cachoeira de Sousa,&nbsp;Gabryella Stefane Firmino de Moraes,&nbsp;Silmar Teixeira","doi":"10.1002/jdn.10401","DOIUrl":"10.1002/jdn.10401","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Studies of non-invasive treatments such as repetitive transcranial magnetic stimulation (rTMS) and transcranial direct current stimulation (tDCS) can contribute in an alternative way to the symptoms treatment and changes in sleep patterns in attention deficit hyperactivity disorder (ADHD), due to some scientific evidence of action on cognition and clinical characteristics.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>The aim of this systematic review was to evaluate studies of non-invasive brain stimulation using rTMS and tDCS on symptoms and sleep parameters in people with ADHD, in order to synthesize the main findings on intervention effects.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methodology</h3>\u0000 \u0000 <p>A systematic review was carried out using the PRISMA protocol in the PubMed/Medline, Embase, PsycInfo, CINAHL, PEDro and Central—Cochrane library databases were initially carried out on 14 March 2024 and repeated until September 2024. Randomized clinical trials evaluating the effect of rTMS and tDCS on symptoms and changes in sleep pattern in people with ADHD were included. Primary outcomes were total severity of ADHD symptoms and sleep quality assessed by questionnaires and instrument measures.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The review evidenced only positive findings in five studies for tDCS in some cognitive functions, ADHD symptoms and improvement in sleep parameters, being results with reduced efficacy due to the high heterogeneity in the experimental protocols.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The findings show limited evidence; however, it is suggested that the combined use of non-invasive stimulation with other approaches, such as cognitive training, may improve the intervention effect. It is also important to consider limitations such as heterogeneity in clinical protocols, selection of participants with ADHD, including dosage and frequency. These factors should be explored in future research to optimize the application of these therapies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142806961","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":"Brain-derived neurotrophic factor as a promising neuromarker which could predict psychomotor developmental impairment in children with unrepaired congenital heart defects","authors":"Lacramioara Eliza Chiperi,&nbsp;Asmaa Carla Hagau,&nbsp;Cristina Tecar,&nbsp;Adina Hutanu,&nbsp;Iolanda Muntean","doi":"10.1002/jdn.10400","DOIUrl":"10.1002/jdn.10400","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>The aim of the study was to assess the predicting value of neuromarkers for psychomotor performances of congenital heart defect (CHD) patients before surgery, as until now the researchers only evaluated neuromarkers after the surgical treatment of the CHD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This cross-sectional study included children with CHD who did not receive treatment (interventional or cardiac surgery). Psychomotor development was evaluated using the Denver II Screening Test. Blood samples were collected for neuromarkers analysis: neuron-specific enolase (NSE), protein S100 (pS100), brain-derived neurotrophic factor (BDNF), and glial fibrillary acidic protein (GFAP).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We enrolled 77 children. Patients with CHD experienced more frequent developmental delays compared to healthy children (12–34% in the non-cyanotic group and 26–74% in the cyanotic group). The association between type of CHD and psychomotor impairment was statistically significant (<i>p</i> &lt; 0.0001, RR = 2.604, CI = 2.07–3.26). Neuromarkers value was compared between cyanotic and non-cyanotic groups: NSE and BDNF values were higher in the cyanotic group, respectively, pS100 and GFAP had slightly higher values in the non-cyanotic group. A correlation coefficient of 0.35 (<i>p</i> = 0.023) was obtained between psychomotor development and BDNF level. An AUC of 0.72 was obtained for psychomotor development and BDNF in ROC analysis with the cut-off value of 5895 pg/ml.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>BDNF is showing moderate discriminative ability in predicting psychomotor development outcomes in pediatric patients with CHD.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11670148/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142806959","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 patient with a PTPN11 gene variant complicated with Chiari I malformation and syringomyelia and a review of literatures","authors":"Zhi Yi,&nbsp;Jiao Xue,&nbsp;Zhenfeng Song,&nbsp;Fei Li,&nbsp;Chengqing Yang,&nbsp;Ying Zhang","doi":"10.1002/jdn.10396","DOIUrl":"10.1002/jdn.10396","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;According to previous literature reports, &lt;i&gt;PTPN11&lt;/i&gt; gene variants account for approximately 50% of Noonan syndrome (NS) cases and 85% of Leopard syndrome (LS) cases. Several patients who were diagnosed with NS or LS complicated with Chiari I malformation (CIM) and/or syringomyelia have been reported to have a &lt;i&gt;PTPN11&lt;/i&gt; variant. However, it is not always clear whether the association between CIM and/or syringomyelia and &lt;i&gt;PTPN11&lt;/i&gt; variants is real or random. We try to explain this phenomenon by reporting a clinical case and making a mini-review.&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 retrospectively described a clinical case in detail and made a genetic test on the proband and her family members using whole-exome sequencing. And made a review of the related literatures.&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;The patient was manifesting progressive abnormal gait and muscle weakness for more than 2 years before she was admitted to our hospital at the age of 5 years and 2 months. On examination, she looked frail and slender. She had short stature, mild intellectual disability, decreased muscle strength in the left limb, thinner left limb, left hollow foot and foot drop, weakened left knee and Achilles tendon reflexes and a positive left Babinski sign. She looked timid and had very little expressive language. MRI of the brain and spine revealed CIM and syringomyelia with hydrops. Cardiac ultrasonography revealed an ostium secundum defect. ECG examination showed no abnormalities. She received a spinal cavity subarachnoid shunt; the symptoms were relieved to some extent, and the cavity in the lumbar vertebrae was significantly reduced after the surgery. Genetic testing found a variant, c. 922A&gt;G (p. Asn308Asp) in the &lt;i&gt;PTPN11&lt;/i&gt; gene. Both parents were wild-type at this locus. A literature review found that 31 patients with NS or LS were complicated with CIM, syringomyelia or both. Together with our patient, a total of six patients in this group had the &lt;i&gt;PTPN11&lt;/i&gt; gene variant. Among them, four were complicated with both CIM and syringomyelia, and two were complicated with CIM only.&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;We report another case with a &lt;i&gt;PTPN11&lt;/i&gt; variant that was complicated with both CIM and syringomyelia. It suggests that CIM and syringomyelia may be clinical manifestations of &lt;i&gt;PTPN11&lt;/i&gt; variation-related diseases. This phenomenon may be underrated due to limitations of genetic diagnostic methods in the past. We strongly suggest routine craniocerebral and spinal MRI scans and genetic testing for patients suspected of having NS or","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142800618","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":"Oxidative stress and apoptosis of the spinal cord in a rat model of retinoic acid-induced neural tube defects","authors":"Peng Wu,&nbsp;Nan Shen,&nbsp;Shaoguang Feng,&nbsp;Weiguang Liu,&nbsp;Jun Wang,&nbsp;Chen Wang","doi":"10.1002/jdn.10399","DOIUrl":"10.1002/jdn.10399","url":null,"abstract":"<p>Neural tube defects (NTDs) are severe congenital anomalies that significantly impact the central nervous system, arising from the neural tube's failure to close during early embryogenesis. In this study, we investigated NTDs and associated pathophysiological mechanisms in foetal rats following exposure to all-trans retinoic acid (atRA). Out of 168 embryos from 15 pregnant rats in the experimental group, 78% displayed NTDs with notable spinal deformities, primarily in the lumbar-sacral region, similar to human cases. Body weight and crown-rump length (CRL) measurements indicated significant growth impairment in the NTD group compared to controls, while the atRA-treated group without NTDs showed no notable differences in growth. Immunohistochemistry (IHC) results demonstrated decreased NeuN and PCNA expression in the NTD group's spinal cord. Oxidative stress markers showed markedly reduced superoxide dismutase (SOD) and glutathione peroxidase (GSH-px) activity, alongside increased malondialdehyde (MDA) levels in the NTD group, indicating heightened oxidative stress. Analysis of apoptosis-related proteins revealed elevated Bax and caspase-3 levels, reduced Bcl-2 and lower poly (ADP-ribose) polymerase (PARP) in the NTD group, suggesting a pronounced shift towards proapoptotic pathways, potentially contributing to NTD progression. Our findings indicate that oxidative stress and apoptosis play significant roles in the development of NTDs. Future investigations should aim to pinpoint critical regulatory genes or proteins that might be targeted for therapeutic interventions to alleviate oxidative stress and apoptosis in NTD development.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142780017","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":"Ascorbic acid supplementation in adolescent rats ameliorates anxiety-like and depressive-like manifestations of nicotine-ethanol abstinence: Role of oxidative stress, inflammatory, and serotonergic mechanisms","authors":"Alireza Najafzadeh,&nbsp;Mobina Mahdizadeh,&nbsp;Samaneh Kakhki,&nbsp;Ali Rahimi,&nbsp;S. Mohammad Ahmadi-Soleimani,&nbsp;Farimah Beheshti","doi":"10.1002/jdn.10392","DOIUrl":"10.1002/jdn.10392","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The present study aims to assess the therapeutic potential of vitamin C (Vit C) on anxiety- and depressive-like behavior induced by abstinence from chronic nicotine-ethanol co-exposure in adolescent male rats.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and methods</h3>\u0000 \u0000 <p>Adolescent male rats were divided into seven experimental groups with ten rats as follows: 1) vehicle, 2) Nicotine (Nic)-Ethanol (Eth): received Nic (2 mg/kg) and Eth (20%) in drinking water from 21 to 42 days of age, 3–5) Nic-Eth-Vit C 100/200/400: received Nic and Eth from 21 to 42 days of age and received Vit C 100/200/400 mg/kg from 43 to 63 days of age, 6) Nic-Eth-Bupropion (Bup)- Naloxone (Nal): received Nic and Eth from 21 to 42 days of age and received Bup and Nal from 43 to 63 days of age, and 7) Vit C 400 mg/kg: received Vit C 400 mg/kg from 43 to 63 days of age. Behavioral assessments were done by elevated plus maze (EPM), forced swimming test (FST), marble burring test (MBT), and open field tests (OFT). Furthermore, specific biochemical variables associated with oxidative, inflammatory, and serotonergic profiles were quantified.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>According to the obtained results, Nic and Eth induced anxiety and depression in treated rats. We showed that two higher doses of Vit C increases the active struggling time in FST and decreases both the time spent in the peripheral zone of OFT and the time spent in the closed arms of EPM. In addition, animals treated by Vit C buried less number of marbles in MBT compared to their control counterparts. Nic and Eth induced oxidative stress and inflammation in cortical tissues of treated rats. Biochemical parameters were improved in the Nic-Eth group receiving Vit C 200/400 mg/kg and Bup-Nal through establishing a balance between oxidant/anti-oxidant and inflammatory/anti-inflammatory mediators. In addition, serotonin level was increased, while Monoamine oxidase (MAO) activity was notably decreased.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The present findings support the beneficial effect of Vit C on anxiety- and depressive-like behavior induced by Nic-Eth withdrawal through various mechanisms such as the promotion of antioxidant defense, suppression of inflammatory mediators, and enhancement of serotoninergic function.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142779994","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 early weaning on feeding behavior parameters in rodents: A systematic review","authors":"Swane Miranda Alves,&nbsp;Elifrances Galdino de Oliveira,&nbsp;Eulália Rebeca Da Silva Araújo,&nbsp;Paula Brielle Pontes Silva,&nbsp;Raul Manhães de Castro,&nbsp;Sandra Lopes de Souza","doi":"10.1002/jdn.10395","DOIUrl":"10.1002/jdn.10395","url":null,"abstract":"<p>Breastfeeding is essential for somatic development, especially neurodevelopment. The abrupt termination of the mother–child bond, early weaning, is a stressful event during the neonatal period. This has lifelong consequences. The impact on neural plasticity will be reflected in behavioral expression, including feeding behavior. This behavior is modulated by encephalic and peripheral structures, such as the serotonergic and dopaminergic neurotransmission systems, as well as hormonal signaling, leptin, and ghrelin. The central nervous system, particularly the hypothalamus, receives information from the gastrointestinal tract to regulate hunger and satiety. Early weaning alters these mechanisms that control feeding behavior. The alterations most commonly reported in the literature are hyperphagia, increased body mass, and molecular alterations related to the control of feeding behavior. Studies have attempted to identify the factors involved in the changes in feeding behavior control caused by early weaning. Furthermore, pharmacological interventions, herbal medicines, calcium supplementation, and physical activity have been investigated as potential means of reversing these changes. Consequently, the objective of this literature review was to analyze the effects of early weaning on the modulation of parameters that act to control feeding behavior.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142768458","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":"Genetic machinery which accompanies metaplasticity operates differentially in experimental model of autism","authors":"Esra Tufan Benli,&nbsp;Ercan Babur,&nbsp;Nurcan Dursun,&nbsp;Hatice Saray,&nbsp;Özlem Barutçu,&nbsp;Cem Süer","doi":"10.1002/jdn.10398","DOIUrl":"10.1002/jdn.10398","url":null,"abstract":"<p>The present study investigated metaplasticity-related mRNA expressions in valproic acid (VPA)-rats, focusing on the PI3K/AKT pathway. Wistar dams were treated with a single intraperitoneal injection of 600 mg/kg VPA or saline on embryonic day E12.5 or an equal volume of saline solution. Three behavioral tests were conducted on these males' offspring: grid-walking test, negative geotaxis test, and three-chamber social interaction test. Metaplasticity was induced in 60-day-old male progeny by giving high-frequency stimulation for 5 minutes following low-frequency stimulation to the perforant pathway. For the baseline stimulation protocol (<i>n</i> = 6), stimulation was delivered to the dentate gyrus at the previously determined stimulation intensity (0.33 Hz 0.175 msec 30 s) for 75 min. The percent change of slope of field excitatory postsynaptic potential (fEPSP) and amplitude of population spike were calculated 55–60 min after induction protocol. The mRNA levels of PI3K, PTEN, AKT, GSK-3β, and MAPT were measured in the hippocampus by using quantitative rt-PCR. We found that offspring of VPA-treated rats showed significantly impaired sensorimotor coordination, decreased sociability, impaired preference for social novelty, and reduced input–output curve of fEPSP slope, compared to control animals. Despite a similar metaplastic response, mRNA levels of genes of interest were similar but considerably down-regulated after induction in offspring of VPA-treated dams. Our study provides evidence that the induced expression of autism-related genes has evolved to enable an adaptation mechanism during metaplastic control of long-term potentiation.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142768383","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":"Investigation of chromosomal anomalies and copy number variations in children diagnosed with autism spectrum disorder by array CGH method","authors":"Fethiye Kılıçaslan,&nbsp;Özlem Öz,&nbsp;Mehmet Burak Mutlu","doi":"10.1002/jdn.10397","DOIUrl":"10.1002/jdn.10397","url":null,"abstract":"<p>This study aimed to identify the chromosomal anomalies and copy number variations (CNVs) in autism spectrum disorder (ASD) and to provide genotype/phenotype correlations. Fifty-four patients diagnosed with ASD between March 2021 and June 2022 were included in the study. Patients were evaluated by cytogenetic analysis and array comparative genomic hybridisation analysis (aCGH). The structural and numerical chromosomal anomaly was detected in 3.7%, and the CNVs were identified in 18.52% of patients. Of the CNVs detected, 27.3% were identified as pathogenic, 18.2% as likely pathogenic and 54.5% as VUS. The copy number gain rate of the detected CNVs was higher than the copy number losses rate, 70% and 30% respectively. As an important finding in the study, a new pathogenic CNV with a 6.3-mb copy number gain in the 3p22.3p22.2 region, whose gene region had not been previously defined in OMIM, was detected. Identifying a genetic aetiology may provide clinicians with more information about disease prognosis and risk of recurrence.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142768442","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}