International Journal of Developmental Neuroscience最新文献

{"title":"Improving facial expression recognition for autism with IDenseNet-RCAformer under occlusions","authors":"S. Selvi,&nbsp;M. Parvathy","doi":"10.1002/jdn.10391","DOIUrl":"10.1002/jdn.10391","url":null,"abstract":"<p>The term ‘autism spectrum disorder’ describes a neurodevelopmental illness typified by verbal and nonverbal interaction impairments, repetitive behaviour patterns and poor social interaction. Understanding mental states from FEs is crucial for interpersonal interaction and social interaction. But when there are occlusions like glasses, facial hair or self-occlusion, it becomes harder to identify facial expressions accurately. This research tackles the issue of identifying facial expressions when parts of the face are occluded and suggests an innovative technique to tackle this difficulty. Creating a strong framework for facial expression recognition (FER) that better handles occlusions and increases recognition accuracy is the goal of this research. Therefore, we propose novel Improved DenseNet-based Residual Cross-Attention Transformer (IDenseNet-RCAformer) system to tackle the partial occlusion FER problem in autism patients. The recognition framework's efficacy is assessed using four datasets of facial expressions, and some preprocessing procedures are conducted to increase the expression recognition efficiency. After that, when recognizing expressions, a simple argmax function is applied to get a forecasted landmark position from a heatmap. Then feature extraction phase, local and global representation are captured from preprocessed images by adopting Inception-ResNet-V2 approach, Cross-Attention Transformer, respectively. Moreover, both features are fused by employing the FusionNet method, thereby enhancing system's training speed and precision. After the features are extracted, an improved DenseNet mechanism is applied to efficiently recognize some variety of facial expressions in partially occluded autism patients. A number of performance metrics are determined and analysed to demonstrate the proposed approach's effectiveness, where the IDenseNet-RCAformer performs best with an accuracy of 98.95%. According to the experimental findings, the proposed framework significantly outperforms the prior recognition frameworks in terms of recognition outcomes.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142728164","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":"Pineal gland volume in children with intellectual disability","authors":"Asiye Arıcı Gürbüz,&nbsp;Hatice Altun,&nbsp;Ayşegül Yolga Tahiroğlu,&nbsp;Gülen Gül Mert,&nbsp;Betül Kızıldağ,&nbsp;Semiha Cömertoğlu Arslan","doi":"10.1002/jdn.10389","DOIUrl":"10.1002/jdn.10389","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Pineal gland volume (PGV), which is associated with sleep and circadian rhythm, is known to be changed in some psychiatric disorders such as major depression, mood disorders and schizophrenia. This study aimed to compare the PGV of children with mild and moderate intellectual disability (ID) and healthy children.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This multicentre retrospective study included 40 children with ID (patient group), aged 6–12 years and 40 age- and sex-matched healthy children (control group). The children were examined for their sociodemographic characteristics and for PGV using magnetic resonance imaging.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The PGV of the patient group was significantly larger than that of the controls (<i>p</i> = 0.023). There was no statistically significant difference in PGV between mild and moderate ID. A moderate and positive correlation was found between Weschler Intelligence Scale for Children-revised (WISC-R) performance score and PGV (<i>p</i> = 0.049, r = 0.313) only in the patient group. In the receiver operating characteristic analysis, the area under the curve was 0.648, and the sensitivity was 70.0%, and the specificity was 60.0%.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>In conclusion, this study demonstrated that the increased PGV levels were associated with autism spectrum disorder (ASD) and PGV could be a risk factor in the aetiology of ID. Further research with larger sample sizes is needed to clarify this issue.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 8","pages":"963-971"},"PeriodicalIF":1.7,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142619683","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":"Combined LinkNet-MBi-LSTM for brain activity recognition with new Stockwell transform features","authors":"Amruta Jagadish Takawale,&nbsp;Ajay N. Paithane","doi":"10.1002/jdn.10388","DOIUrl":"10.1002/jdn.10388","url":null,"abstract":"<p>Recognizing brain activity from EEG waves is an important field of study in biomedical engineering and neuroscience. Conventional approaches usually begin with signal processing techniques to extract features from the EEG data, and then machine learning algorithms are applied to classify the data. However, the spatial resolution of these EEG signals is low, which makes it difficult to pinpoint the exact location of the neural activity source in the brain. There are ongoing initiatives to use DL-based brain activity recognition algorithms to overcome these constraints. Therefore, this work presents a novel hybrid framework for brain activity detection using the enhanced Stockwell transform and an EEG signal that is called LinkNet and modified bidirectional–long short-term memory (LN-MBi-LSTM) model. This framework follows a methodical approach that includes stages for feature extraction, brain activity recognition and preprocessing. Firstly, the improved Weiner filtering (IWF) approach is used to preprocess the EEG input signal. The relevant features are then extracted using a feature extraction technique from the preprocessed EEG signal. To identify the brain activity, these recovered feature sets are subsequently processed separately using LinkNet and modified bidirectional–long short-term memory (MBi-LSTM). A thorough analysis that takes into account both simulation and experimental calculations is part of the validation process for the LN-MBi-LSTM model. Finally, this study demonstrates the therapeutic potential of the LN-MBi-LSTM framework by presenting a strong and verified model for brain activity recognition. With the highest precision of 0.997, the LinkNet-MBi-LSTM model distinguishes itself from other models and confirms its exceptional capacity to produce accurate positive predictions.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 8","pages":"943-962"},"PeriodicalIF":1.7,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142619659","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":"Amelioration of propionic acid-induced autism-like behaviors in rats by fenofibrate: A focus on reduction of brain galectin-3 levels","authors":"Mumin Alper Erdogan,&nbsp;Mine Ceren Akbulut,&nbsp;İlknur Altuntaş,&nbsp;Canberk Tomruk,&nbsp;Yiğit Uyanıkgil,&nbsp;Oytun Erbaş","doi":"10.1002/jdn.10393","DOIUrl":"10.1002/jdn.10393","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interactions and repetitive behaviors. This study examines the effects of fenofibrate on a propionic acid (PPA)-induced rat model of ASD, focusing on behavioral changes, inflammatory markers, and histological findings.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and Methods</h3>\u0000 \u0000 <p>Thirty male Wistar rats were divided into three groups: a control group, a group receiving PPA and saline, and a group treated with PPA and fenofibrate for 15 days. Behavioral assessments, including the three-chamber sociability test, open-field test, and passive avoidance learning, were conducted. Biochemical analyses measured TNF-α, NGF, IL-17, IL-2, and galectin-3 levels in brain tissues. Histological evaluations focused on Purkinje neuron counts in the cerebellum and neuronal changes in the CA1 and CA3 regions of the hippocampus, along with glial fibrillary acidic protein (GFAP) levels.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Fenofibrate treatment significantly improved behavioral outcomes, reducing autism-like behaviors compared to the PPA/saline group. Biochemically, the PPA/saline group showed elevated levels of malondialdehyde, TNF-α, IL-2, IL-17, and galectin-3, which were reduced following fenofibrate treatment. Histologically, the PPA/saline group exhibited fewer, dysmorphic Purkinje neurons and increased glial activity in the CA1 region, both of which were ameliorated by fenofibrate treatment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Fenofibrate shows promise in mitigating autism-like behaviors in a rat model of ASD, likely due to its antioxidative and neuroprotective properties, which contribute to preserving neuronal integrity and reducing inflammation.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 8","pages":"977-990"},"PeriodicalIF":1.7,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142619650","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 effects of pentoxifylline in propionic acid-induced autism symptoms in rat models: A behavioral, biochemical, and histopathological study","authors":"Mümin Alper Erdoğan,&nbsp;Kerem Can Tunç,&nbsp;Ali İmran Daştan,&nbsp;Canberk Tomruk,&nbsp;Yiğit Uyanıkgil,&nbsp;Oytun Erbaş","doi":"10.1002/jdn.10394","DOIUrl":"10.1002/jdn.10394","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The role of propionic acid (PPA) in eliciting behaviors analogous to autism in rat models is a documented phenomenon. This study examines the therapeutic implications of pentoxifylline—an agent traditionally used for peripheral vascular diseases—on these autism-like behaviors by modulating brain proteins and reducing pro-inflammatory cytokines like tumor necrosis factor-α (TNF-α) in a rat model.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This research involved 30 male <i>Wistar albino</i> rats, which were divided into three distinct groups: a baseline control set, a PPA-treated cluster receiving a 250 mg/kg/day dose of PPA via intraperitoneal injection for a span of five days followed by saline orally, and a PPA group administered an oral dose of pentoxifylline at 300 mg/kg/day over 15 days. Subsequent to the treatment phase, euthanasia was carried out for the extraction of brain and blood samples, which were then analyzed for histopathological and biochemical markers.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The pentoxifylline-treated subjects demonstrated a significant mitigation in the manifestation of autistic-like behaviors, as assessed through a triad of social interaction tests. A noteworthy decline in TNF-α levels was observed, alongside a significant rise in the concentration of adenosine triphosphate and nerve growth factor in brain tissue (p &lt; 0.05). Histopathological analysis underscored a reduction in oxidative stress and a significant preservation of neuronal cell types, specifically pyramidal neurons in the hippocampal CA1 and CA3 regions and Purkinje cells in the cerebellum (p &lt; 0.001).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Pentoxifylline treatment has been found to effectively reduce the behavioral symptoms associated with autism, as well as biochemical and histopathological disruptions induced by PPA in rat models, highlighting its potential as a neurotherapeutic agent.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 8","pages":"991-1005"},"PeriodicalIF":1.7,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142619688","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":"Exposure to Sunset Yellow FCF since post-weaning causes hippocampal structural changes and memory impairment in the adult rat: The neuroprotective effects of Coenzyme Q10","authors":"Seyed Reza Mousavi,&nbsp;Maryam Shadravanan,&nbsp;Majid Reza Farrokhi,&nbsp;Fatemeh Karimi,&nbsp;Narges Karbalaei,&nbsp;Melika Arzhang zadeh,&nbsp;Maryam Naseh","doi":"10.1002/jdn.10385","DOIUrl":"10.1002/jdn.10385","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>This study aimed to investigate whether exposure to Sunset Yellow FCF (SY) since post-weaning can lead to hippocampal structural changes and memory impairment in adult rat and whether the Coenzyme Q10 (CoQ10) can protect against these adverse effects.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The weanling rats were randomly divided into six groups and were treated daily by oral gavage for 6 weeks, as follows: (I) control group, administered distilled water (0.3 mL/100 g/day); (II) CoQ10 group, received 10 mg/kg/day CoQ10; (III) low SY group, received 2.5 mg/kg/day SY; (IV) high SY group, received 70 mg/kg/day SY; (V) low SY + CoQ10 group; and (VI) high SY + CoQ10 group. At the end of the sixth week, the novel object recognition (NOR) test was conducted to evaluate memory. Then, after sacrificing animals, the cerebral hemispheres were removed for stereological study and evaluation of MDA levels.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The low and high doses of SY led to significant neuronal loss and a decrease in the volume of the hippocampus (CA1 and DG subregions), as well as increased the MDA level, which was associated with short- and long-term memory impairment. Although, administration of CoQ10 prevented the hippocampal neural loss and volume, and caused a reduction in MDA and improved memory in the low and high SY groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>It seems that CoQ10 could prevent the neuronal loss and hippocampal atrophy caused by post-weaning exposure to SY through preventing oxidative stress, ultimately improving memory impairment in rats.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 8","pages":"924-933"},"PeriodicalIF":1.7,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142619678","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":"GABA in early brain development: A dual role review","authors":"Xiaoyu Ji,&nbsp;Shuzhen Liu,&nbsp;Shiyong Li,&nbsp;Xing Li,&nbsp;Ailin Luo,&nbsp;Xue Zhang,&nbsp;Yilin Zhao","doi":"10.1002/jdn.10387","DOIUrl":"10.1002/jdn.10387","url":null,"abstract":"<p>This comprehensive review examines the multifaceted roles of gamma-aminobutyric acid (GABA) in early brain development. GABA, traditionally recognized for its inhibitory functions in the mature brain, also exhibits excitatory effects during early neural development. This article explores the mechanisms behind GABA's dual roles, detailing its impact on the properties of the immature brain, the mechanisms of GABA-mediated excitation, the role of GABA-mediated presynaptic inhibition, the trophic actions of GABA during early development, GABA regulation of neurite growth and GABA-mediated cell differentiation in the immature brain. Emphasizing recent research findings, the review highlights the significance of GABAergic signalling in shaping the developing brain and its potential implications for understanding neurodevelopmental disorders.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 8","pages":"843-856"},"PeriodicalIF":1.7,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142582892","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel MAOA gene variant: Brunner syndrome, a rare syndrome, is associated with a wide range of psychiatric symptoms","authors":"Gül Ünsel-Bolat,&nbsp;Sıla Turan,&nbsp;Hilmi Bolat","doi":"10.1002/jdn.10390","DOIUrl":"10.1002/jdn.10390","url":null,"abstract":"<p>Brunner syndrome is a rare genetic disorder that associated with mutations in the <i>MAOA</i> gene. It has been linked to a number of psychiatric disorders. We present detailed information on psychiatric evaluation of a case carrying a novel <i>MAOA</i> gene variant of p.(Thr408Met). The patient was referred to our clinic with a history of attention problems, motor coordination difficulties and a tendency to bite objects. Following a comprehensive psychiatric evaluation, the patient was diagnosed with developmental coordination disorder, articulation disorder and attention deficit hyperactivity disorder (ADHD). <i>MAOA</i> mutations are rarely reported in the literature. To date, a total of 23 <i>MAOA</i> gene variants, mostly missense variants, have been reported through the HGMD database (Professional 2023.4).</p><p>Neurodevelopmental symptoms may vary in severity and diversity among patients with Brunner syndrome. Different degrees of intellectual disability have been found in previously reviewed cohorts of Brunner syndrome. In our affected patient, cognitive development and academic achievement were at a similar level to his peers. Additionally, our patient exhibited symptoms suggestive of developmental coordination disorder. Our findings show that genetic mutations in <i>MAOA</i> can lead to a wide range of clinical symptoms and underline the need for comprehensive genetic and clinical evaluations.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 8","pages":"972-976"},"PeriodicalIF":1.7,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142499847","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":"Role of hsa-miR-543-KIF5C/CALM3 pathway in neuron differentiation of embryonic mesenchymal stem cells","authors":"Dongmei An,&nbsp;Yangfan Wang,&nbsp;Xin Wang","doi":"10.1002/jdn.10386","DOIUrl":"10.1002/jdn.10386","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Human umbilical cord mesenchymal stem cells (hUC-MSCs) have the ability to differentiate into nerve cells, which offers promising options for treating neurodegenerative diseases.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>To explore the important regulatory molecules of hUC-MSCs differentiation into neurons.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>In this research, the neural differentiation of hUC-MSCs was induced by a low-serum DMSO/BHA/DMEM medium. The GEO database was used to retrieve the relevant datasets. The starBase and miEAA databases were used for bioinformatics analysis. RT-qPCR was used to detect the hsa-miR-543 level and the mRNA levels of NSE, NeuN, NF-M, KIF5C, and CALM3. The protein levels of KIF5C and CALM3 were checked by western blotting.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The expression levels of NSE, NeuN, NF-M, KIF5C, and CALM3 were elevated, while hsa-miR-543 was under-expressed in neuro-induced hUC-MSCs. The increase in NSE, NeuN, and NF-M mRNA levels induced by DMSO/BHA/DMEM was partially reversed by the knockdown of KIF5C and CALM3 in hUC-MSCs. Moreover, the transfection of hsa-miR-543 mimic partially countered the DMSO/BHA/DMEM-induced elevation in NSE, NeuN, NF-M, KIF5C, and CALM3 mRNA levels.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>KIF5C and CALM3 facilitated the neuronal differentiation of hUC-MSCs, whereas hsa-miR-543 exerted an opposing effect by negatively regulating KIF5C and CALM3.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 8","pages":"934-942"},"PeriodicalIF":1.7,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142499869","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":"Cohen syndrome: Can early-onset recurrent infections and hypotonia provide early diagnosis and intervention for intellectual disability?","authors":"Gül Ünsel-Bolat,&nbsp;Ezgi Keskin-Çelebi,&nbsp;Hilmi Bolat","doi":"10.1002/jdn.10384","DOIUrl":"10.1002/jdn.10384","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Cohen syndrome is a rare disease associated with neurodevelopmental disorders, especially intellectual disability (ID), neutropenia and recurrent infections are consistently reported in cases. Neutropenia is an important part of the syndrome, as well as ID. Homozygous variants in the <i>VPS13B</i> gene, located on chromosome 8q22 and containing 62 exons, have been found to cause Cohen syndrome. Cohen syndrome is commonly diagnosed when dysmorphological findings and developmental delay become more apparent. However, the identification of some findings with increasing age has caused the diagnosis of Cohen syndrome to be delayed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Cases diagnosed with ID were evaluated using whole-exome sequencing/clinical exome sequencing method. Family segregation analysis was performed using Sanger sequencing. We presented the clinical and genetic findings of three cases diagnosed with Cohen syndrome and their parents in detail.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In this study, we presented the occurrence of symptoms in different age groups, and the prognosis of three cases carrying the <i>VPS13B</i> gene variants, including three different variant types: missense, frameshift and nonsense. Although our cases had different variant types, they shared important similarities on the onset period and prognosis of the symptoms. All cases presented hypotonia, difficulties in swallowing, recurrent respiratory tract infections, neutropenia, delay in motor development, ID and hyperactivity. Our cases did not have a diagnosis of autism spectrum disorder. All cases had increased willingness to engage in social communication.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>We emphasize the importance of early-onset recurrent infections and hypotonia for early diagnosis and preventive genetic counselling in Cohen syndrome.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 8","pages":"918-923"},"PeriodicalIF":1.7,"publicationDate":"2024-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142464534","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}