International Journal of Developmental Neuroscience最新文献

{"title":"A rare pediatric patient of anti-IgLON5 encephalitis with epileptic seizures as the first symptom","authors":"Jiao Xue,&nbsp;Zhenfeng Song,&nbsp;Hongshan Zhao,&nbsp;Zhi Yi,&nbsp;Fei Li,&nbsp;Chengqing Yang,&nbsp;Kaixuan Liu,&nbsp;Ying Zhang","doi":"10.1002/jdn.10364","DOIUrl":"10.1002/jdn.10364","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Anti-IgLON5 encephalitis was a rare neurological and heterogeneous disorder, which was mainly found in adults. Epileptic seizures related to anti-IgLON5 disease were rarely reported.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Neural antibodies associated with autoimmune encephalitis in serum and cerebrospinal fluid (CSF) were tested using cell-based assays (CBA) with immunofluorescence double staining. The antibodies in serum were further confirmed by tissue-based assay (TBA) with rat brain and kidney tissue.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We reported a pediatric case presented with epileptic seizures, cognitive impairments, and sleep disorders. Autoantibody screening showed anti-IgLON5 antibody IgG (1:100+) and anti-NMDAR antibody IgG (1:10+) in the serum. She was diagnosed as anti-IgLON5 encephalitis. Her conditions improved rapidly by treated with intravenous immunoglobulin and high dose intravenous methylprednisolone.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>We described the second pediatric case with anti-IgLON5 encephalitis, who was also the first presented with epileptic seizures as the initial presentation. Anti-IgLON5 encephalitis might have mild manifestations. For patients with new onset seizures associated with cognitive impairments and sleep disturbances, anti-IgLON5 antibody should be tested as early, even in children.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 7","pages":"791-796"},"PeriodicalIF":1.7,"publicationDate":"2024-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141603598","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":"Early-life manipulation of the serotonergic system exacerbates the harmful effects of sleep deprivation on cognitive functions","authors":"Zahra Mashahadi,&nbsp;Hakimeh Saadati,&nbsp;Safa Ghaheri Fard","doi":"10.1002/jdn.10363","DOIUrl":"10.1002/jdn.10363","url":null,"abstract":"<p>Serotonin is a monoamine neurotransmitter that plays a main role in regulating physiological and cognitive functions. Serotonergic system dysfunction is involved in the etiology of various psychiatric and neurological disorders. Therefore, the present study was designed to investigate the effects of early-life serotonin depletion on cognitive disorders caused by sleep deprivation. Serotonin was depleted by para-chlorophenylalanine (PCPA, 100 mg/kg, s.c.) at postnatal days 10–20, followed by sleep deprivation-induced through the multiple platform apparatus for 24 h at PND 60. After the examination of the novel object recognition and passive avoidance memories, the hippocampi and prefrontal cortex were dissected to examine the <i>brain-derived neurotrophic factor (BDNF)</i> mRNA expression by PCR. Our findings showed that postnatal serotonin depletion and sleep deprivation impaired the novel object recognition and passive avoidance memories and changed the BDNF levels. In the same way, the serotonin depletion in early life before sleep deprivation exacerbated the harmful effects of sleep deprivation on cognitive function and BDNF levels. It can be claimed that the serotonergic system plays a main role in the modulation of sleep and cognitive functions.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 7","pages":"670-678"},"PeriodicalIF":1.7,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141563343","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 patients with childhood epilepsy in single center: Comprehensive genetic testing experience","authors":"Hamide Betul Gerik-Celebi,&nbsp;İpek Dokurel Çetin,&nbsp;Hilmi Bolat,&nbsp;Gul Unsel-Bolat","doi":"10.1002/jdn.10360","DOIUrl":"10.1002/jdn.10360","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Epilepsy is a common multifactorial neurological disease usually diagnosed during childhood. In this study, we present the contribution of consecutive genetic testing to the genetic diagnostic yield of childhood epilepsy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In 100 children (53 female, 47 male) with epilepsy, targeted sequencing (TS) and clinical exome sequencing (CES) were performed. All cases (<i>n</i> = 100) included in the study were epilepsy patients. In addition, we investigated the genetic diagnosis rates according to the associated co-occurring findings (including developmental delay/intellectual disability, brain malformations, macro-/microcephaly, and dysmorphic features).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The overall diagnostic rate in this study was 33% (<i>n</i> = 33 patients). We identified 11 novel variants in <i>WDR45</i>, <i>ARX</i>, <i>PCDH19</i>, <i>SCN1A</i>, <i>CACNA1A</i>, <i>LGI1</i>, <i>ASPM</i>, <i>MECP2</i>, <i>NF1</i>, <i>TSC2</i>, and <i>CDK13</i>. Genetic diagnosis rates were as follows: cases with developmental delay/intellectual disability 38.7% (24/62) and without developmental delay/intellectual disability 23.6% (9/38); cases with brain malformations 46.8% (15/32) and without brain malformations 25% (16/64); cases with macro-/microcephaly 50% (6/12) and without macro-/microcephaly 28.4% (25/88); and cases with dysmorphic features 48.2% (14/29) and without dysmorphic features 23.9% (17/71).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Genotype–phenotype correlation is even more important in diseases such as epilepsy, which include many genes and variants of these genes in etiopathogenesis. We presented the clinical findings of the cases carrying 11 novel variants in detail, including dysmorphic features, accompanying neurodevelopmental disorders, EEG results, and brain MRI results.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 7","pages":"659-669"},"PeriodicalIF":1.7,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141563344","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 the relationship between the sense of coherence and the level of depression in mothers of children with autism","authors":"Ferit Durankuş,&nbsp;Fırat Erdoğan,&nbsp;Ramazan Durankuş,&nbsp;Ayse Gulek,&nbsp;Raif Kaan Bas,&nbsp;Yakup Albayrak,&nbsp;Kübra Yilmaz","doi":"10.1002/jdn.10359","DOIUrl":"10.1002/jdn.10359","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Autism spectrum disorder (ASD) is a neurodevelopmental disorder originating from early childhood. Although there are studies investigating the sense of coherence in caregivers of children with ASD, there is not a previous study in our country. In this study, we aimed to examine the relationship between the sense of coherence and depression levels in mothers of children with ASD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>Seventy-five mothers of children followed up in rehabilitation centers with the diagnosis of ASD were included in this study. Beck Depression Inventory (BDI) and Sense of Coherence Scale-13 (SOC-13) were administered to mothers. Participants were divided into two groups: a depressive group and a control group according to the BDI cut-off score. SOC-13 total score and sub-scores were compared between these groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>According to the BDI cut-off score, 45 participants (60%) were included in the depressive group. Total SOC-13 score and sub-scores were found to be statistically significantly lower in the depressive group compared with the control group.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our study is the first study in our country to examine the relationship between the sense of coherence and depression in mothers of children with ASD. The results showed that there was a significant negative correlation between depression scores and sense of coherence. It is predicted that psychological interventions that will improve the sense of coherence of mothers with children with ASD may play an important role in the treatment of depression, thus leading to an increase in the quality of care provided by parents.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 6","pages":"605-610"},"PeriodicalIF":1.7,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141563365","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 structure alterations following neonatal exposure to low-frequency electromagnetic fields: A histological analysis","authors":"Stephanie M. Sissons,&nbsp;Blake T. Dotta","doi":"10.1002/jdn.10361","DOIUrl":"10.1002/jdn.10361","url":null,"abstract":"<p>Nitric oxide (NO) and electromagnetic fields (EMF) have been extensively studied for their roles in neurobiology, particularly in regulating cerebral functions and synaptic plasticity. This study investigates the impact of EMFs on NO modulation and its subsequent effects on neurodevelopment, building upon prior research examining EMF exposure's consequences on Wistar albino rats. Rats were exposed perinatally to either tap water, 1 g/L of L-arginine (LA) or 0.5 g/L of <i>N</i>-methylarginine (NMA). Half of the rats in each group were also exposed to a 7-Hz square-wave EMF at three separate intensities (5, 50 and 500 nT) for 2–14 days following birth. Animals were allowed to develop, and their brains were harvested later in adulthood (mean age = 568.17 days, SD = 162.73). Histological analyses were used to elucidate structural changes in key brain regions. All brains were stained with Toluidine Blue O (TBO), enabling the visualization of neurons. Neuronal counts were then conducted in specific regions of interest (e.g. hippocampus, cortices, amygdala and hypothalamus). Histological analyses revealed significant alterations in neuronal density in specific brain regions, particularly in response to EMF exposure and pharmacological interventions. Notable findings include a main EMF exposure effect where increased neuronal counts were observed in the secondary somatosensory cortex under low EMF intensities (<i>p</i> &lt; 0.001) and sex-specific responses in the hippocampus, where a significant increase in neuronal counts was observed in the left CA3 region in female rats exposed to EMF compared to unexposed females (<i>t</i>(18) = 2.371, <i>p</i> = 0.029). Additionally, a significant increase in neuronal counts in the right entorhinal cortex was seen in male rats exposed to EMF compared to unexposed males (<i>t</i>(18) = 2.216, <i>p</i> = 0.040). These findings emphasize the complex interaction among sex, EMF exposure and pharmacological agents on neuronal dynamics across brain regions, highlighting the need for further research to identify underlying mechanisms and potential implications for cognitive function and neurological health in clinical and environmental contexts.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 7","pages":"651-658"},"PeriodicalIF":1.7,"publicationDate":"2024-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jdn.10361","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141534448","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":"Therapeutic effects of nanosilibinin in valproic acid-zebrafish model of autism spectrum disorder: Focusing on Wnt signaling pathway and autism spectrum disorder-related cytokines","authors":"Zahra Karimi,&nbsp;Asadollah Zarifkar,&nbsp;Esmaeil Mirzaei,&nbsp;Mehdi Dianatpour,&nbsp;Mahintaj Dara,&nbsp;Hadi Aligholi","doi":"10.1002/jdn.10348","DOIUrl":"10.1002/jdn.10348","url":null,"abstract":"<p>In this study, we delved into the intricate world of autism spectrum disorder (ASD) and its connection to the disturbance in the Wnt signaling pathway and immunological abnormalities. Our aim was to evaluate the impact of silibinin, a remarkable modulator of both the Wnt signaling pathway and the immune system, on the neurobehavioral and molecular patterns observed in a zebrafish model of ASD induced by valproic acid (VPA). Because silibinin is a hydrophobic molecule and highly insoluble in water, it was used in the form of silibinin nanoparticles (nanosilibinin, NS). After assessing survival, hatching rate, and morphology of zebrafish larvae exposed to different concentrations of NS, the appropriate concentrations were chosen. Then, zebrafish embryos were exposed to VPA (1 μM) and NS (100 and 200 μM) at the same time for 120 h. Next, anxiety and inattentive behaviors and the expression of CHD8, CTNNB, GSK3beta, LRP6, TNFalpha, IL1beta, and BDNF genes were assessed 7 days post fertilization. The results indicated that higher concentrations of NS had adverse effects on survival, hatching, and morphological development. The concentrations of 100 and 200 μM of NS could ameliorate the anxiety-like behavior and learning deficit and decrease ASD-related cytokines (IL1beta and TNFalpha) in VPA-treated larvae. In addition, only 100 μM of NS prevented raising the gene expression of Wnt signaling-related factors (CHD8, CTNNB, GSK3beta, and LRP6). In conclusion, NS treatment for the first 120 h showed therapeutic effect on an autism-like phenotype probably via reducing the expression of pro-inflammatory cytokines genes and changing the expression of Wnt signaling components genes.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 5","pages":"454-468"},"PeriodicalIF":1.7,"publicationDate":"2024-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141497987","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":"Neurocognitive features in childhood & adulthood in autism spectrum disorder: A neurodiversity approach","authors":"Dr. Kalliopi Megari,&nbsp;Chionia K. Frantzezou,&nbsp;Zoi A. Polyzopoulou,&nbsp;Stella K. Tzouni","doi":"10.1002/jdn.10356","DOIUrl":"10.1002/jdn.10356","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a diverse profile of cognitive functions. Heterogeneity is observed among both baseline and comorbid features concerning the diversity of neuropathology in autism. Symptoms vary depending on the developmental stage, level of severity, or comorbidity with other medical or psychiatric diagnoses such as intellectual disability, epilepsy, and anxiety disorders.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>The neurodiversity movement does not face variations in neurological and cognitive development in ASD as deficits but as normal non-pathological human variations. Thus, ASD is not identified as a neurocognitive pathological disorder that deviates from the typical, but as a neuro-individuality, a normal manifestation of a neurobiological variation within the population.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In this light, neurodiversity is described as equivalent to any other human variation, such as ethnicity, gender, or sexual orientation. This review will provide insights about the neurodiversity approach in children and adults with ASD. Using a neurodiversity approach can be helpful when working with children who have autism spectrum disorder (ASD).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>This method acknowledges and values the various ways that people with ASD interact with one another and experience the world in order to embrace the neurodiversity approach when working with children with ASD.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 6","pages":"471-499"},"PeriodicalIF":1.7,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141491849","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":"Ethyl pyruvate alleviates NLRP3/Caspase-1/GSDMD-mediated neuronal pyroptosis in neonatal rats with hypoxic–ischemic brain damage","authors":"Sha Sha,&nbsp;Ni Jin,&nbsp;Xinyi Xie,&nbsp;Ruiyu Zhou,&nbsp;Yanghao Ruan,&nbsp;Ying Ouyang","doi":"10.1002/jdn.10357","DOIUrl":"10.1002/jdn.10357","url":null,"abstract":"<p>Pyroptosis is an inflammation-associated programmed cell death, and neuroinflammation is strongly associated with severe neurological deficits in neonatal hypoxic–ischemic encephalopathy (HIE). Ethyl pyruvate (EP), a known anti-inflammatory agent, has shown promise in the treatment of hypoxic–ischemic brain damage (HIBD) rats; nevertheless, the therapeutic mechanism of EP and its capacity to suppress neuronal pyroptosis in HIBD rats remain unclear. In both the neonatal Rice-Vannucci rat model and the OGD/R model, this study examined alterations in the NLRP3/Caspase-1/GSDMD classical pyroptosis pathway in hippocampal neurons during HIE and the potential inhibitory impact of ethyl pyruvate on this pathway. We used HE staining, immunofluorescence double staining, transmission electron microscopy, and western blot to demonstrate that EP effectively inhibited hippocampal neuronal pyroptosis and attenuated the activation of the NLRP3/Caspase-1/GSDMD signaling pathway in HIBD rats, which resulted in a reduction of neuroinflammation and facilitated neural recovery. The results suggest that EP may be a promising neuroprotective agent for treating HIE.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 6","pages":"594-604"},"PeriodicalIF":1.7,"publicationDate":"2024-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141467827","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":"CircNUP98 promotes the malignant behavior of glioma cells through the miR-520f-3p/ELK4 axis","authors":"Liangqin Nie,&nbsp;Tianyu Jiang","doi":"10.1002/jdn.10355","DOIUrl":"10.1002/jdn.10355","url":null,"abstract":"<p>Glioma, a formidable form of brain cancer, poses significant challenges in terms of treatment and prognosis. Circular RNA nucleoporin 98 (circNUP98) has emerged as a potential regulator in various cancers, yet its role in glioma remains unclear. Here, we elucidate the functional role of circNUP98 in glioma cell proliferation, invasion, and migration, shedding light on its therapeutic implications. Glioma cells were subjected to si-NUP98 transfection, followed by assessments of cell viability, proliferation, invasion, and migration. Subcellular localization of circNUP98 was determined, and its downstream targets were identified. We delineated the binding relationships between circNUP98 and microRNA (miR)-520f-3p, as well as between miR-520f-3p and ETS transcription factor ELK4 (ELK4). The expression levels of circNUP98/miR-520f-3p/ELK4 were quantified. Our findings demonstrated that circNUP98 was upregulated in glioma cells, and its inhibition significantly attenuated glioma cell proliferation, invasion, and migration. Mechanistically, circNUP98 functioned as a sponge for miR-520f-3p, thereby relieving the inhibitory effect of miR-520f-3p on ELK4. Moreover, inhibition of miR-520f-3p or overexpression of ELK4 partially rescued the suppressive effect of circNUP98 knockdown on glioma cell behaviors. In summary, our study unveils that circNUP98 promotes glioma cell progression via the miR-520f-3p/ELK4 axis, offering novel insights into the therapeutic targeting of circNUP98 in glioma treatment.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 6","pages":"581-593"},"PeriodicalIF":1.7,"publicationDate":"2024-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141456584","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":"Dysregulation of miR-146a in human milk of mothers having children with autism","authors":"Nagwa A. Meguid,&nbsp;Maha Hemimi,&nbsp;Mahmoud Rashad,&nbsp;Amal Elsaeid,&nbsp;Gina Elpatrik,&nbsp;Hala M. Zeidan","doi":"10.1002/jdn.10353","DOIUrl":"10.1002/jdn.10353","url":null,"abstract":"<p>Autism spectrum disorder (ASD) is a set of neurobehavioral manifestations that impose poor social interaction and stereotyped repetitive patterns. Several mircoRNA (miRNA) dysregulations underpin ASD pathophysiology via impairing the neurogenic niches. For instance, miR-146a and miR-106 differential expressions are linked to deregulation of ASD-related genes and the severity of clinical symptoms, respectively. Breastfeeding provides newborns with many bioactive compounds that support their neurodevelopment including miRNA. Our pilot study evaluated the expression pattern of miR-106a and miR-146a in human milk (HM) of nursing mothers (<i>n</i> = 36) having autistic children compared to age-matched counterparts (<i>n</i> = 36) with neurotypical children as controls. Under sterile conditions, breast milk samples were collected using manual sucking pumps and centrifuged to separate the fat layer. Total RNA was extracted from the lipid fraction, and the expression profiles of both miR-106a and miR-146a were evaluated using quantitative real-time polymerase chain reaction. Among the test group, we reported some factors that were previously linked to HM miRNA perturbations: gestational diabetes, hypertension, and cesarean delivery. HM miR-106a showed comparable expression levels in both mother groups (<i>p</i> = 0.8681), whereas HM miR-146a was significantly downregulated in mothers with autistic children compared to controls (<i>p</i> = 0.0399). Alternatively, HM miR-106 levels were positively associated with two ASD clinical parameters: Childhood Autism Rating Scale (CARS) and communication and language domain of Autism Diagnostic Interview-Revised (ADI-R) (<i>r</i> = 0.6452, <i>p</i> = 0.0003 and <i>r</i> = 0.3958, <i>p</i> = 0.0410, respectively). The receiver operating characteristic (ROC) curves of both maternal HM miR-106a and miR-146a showed poor fitness as predictive biomarkers for ASD. Our findings suggest that the miR-146a differential expression in ASD children may originate at infancy during the lactation period. Thus, maternal pre- and postnatal health care is critical to maintain optimal miRNome in breast milk.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 6","pages":"558-566"},"PeriodicalIF":1.7,"publicationDate":"2024-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141456585","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}