International Journal of Developmental Neuroscience最新文献

{"title":"Decreased levels of L-selectin and platelet-endothelial cell adhesion molecule-1 in children with autism spectrum disorder","authors":"Semiha Cömertoğlu Arslan,&nbsp;Feyzullah Necati Arslan,&nbsp;Hatice Altun,&nbsp;Dilan Taş,&nbsp;Elif Milhan Islah,&nbsp;Muhammed Seyithanoğlu,&nbsp;Adem Doğaner","doi":"10.1002/jdn.10377","DOIUrl":"10.1002/jdn.10377","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study aimed to ascertain the serum levels of selectins (E, L, P) and platelet-endothelial adhesion molecule-1 (PECAM-1) in preschool children with autism spectrum disorder (ASD) and to establish a comparison with the levels observed in healthy controls.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The study included 34 children aged 2–7 years diagnosed with ASD (ASD group) and 34 randomly selected healthy children matched for age and sex to the ASD group. The children were free of any genetic or physical disease, clinically active infection, or medication use. The sociodemographic data form was completed by all parents. The Childhood Autism Rating Scale (CARS) and the Autism Behavior Checklist (ABC) were administered to the patient group, and the Aberrant Behavior Checklist (AbBC) was completed by the families of all children. Serum selectin (E, L, P) and PECAM-1 levels were measured using enzyme-linked immunosorbent assay (ELISA) kits.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The results showed that the levels of both L-selectin (<i>p</i> = 0.007) and PECAM-1 (<i>p</i> = 0.019) were significantly lower in the ASD group than in the control group. No significant difference was observed between the groups concerning E-selectin and P-selectin levels (<i>p</i> &gt; 0.05). It was observed that P-selectin variables were statistically significant in predicting the presence of ASD (<i>p</i> = 0.019). A remarkable inverse correlation was found between the AbBC irritability subscale score and L-selectin (r = −0.296, <i>p</i> = 0.014) and PECAM-1 (r = −0.276, <i>p</i> = 0. 023); the AbBC Lethargy-Social Withdrawal subscale score and E-Selectin (r = −0.239, <i>p</i> = 0.049), L-Selectin (r = −0.297, <i>p</i> = 0.014) and PECAM-1 (r = −0.264, <i>p</i> = 0.029); L-Selectin levels and the AbBC <b>stereotypic behavior</b> subscale (r = −0.248, <i>p</i> = 0.042). No statistically significant relationship was observed between selectins (E, L, P) and PECAM-1 levels and CARS scale, ABC subscale or total scores and age variables (<i>p</i> &gt; 0.05).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>These study results suggest that L-selectin, P-selectin and PECAM-1 may play a role in the pathophysiology of ASD.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 8","pages":"867-876"},"PeriodicalIF":1.7,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142286386","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":"Long-lasting behavioral and neurochemical effects of early-life environmental enrichment in rats submitted to neonatal morphine administration","authors":"Matheus Gabriel de Freitas Nascimento,&nbsp;Josimar Macedo de Castro,&nbsp;Liciane Fernandes Medeiros,&nbsp;Khetrüin Jordana Fiuza,&nbsp;Thais Collioni de Oliveira,&nbsp;Iala Thais de Sousa Morais,&nbsp;Tenille Dal Bosco,&nbsp;Wolnei Caumo,&nbsp;Dirson J. Stein,&nbsp;Iraci L. S. Torres","doi":"10.1002/jdn.10378","DOIUrl":"10.1002/jdn.10378","url":null,"abstract":"<p>The present study examined the medium- and long-term effects of early environmental enrichment (EE) on neuromotor, nociceptive, cognitive, behavioral, and neurochemical parameters in newborn rats repeatedly exposed to morphine. The study employed 90 Wistar rats: 10 adult nulliparous females and 80 male pups. Litter was split into standard and EE housing. Following, half of each litter received saline (S) or morphine (M) injections, resulting in four groups: SC + S, EE + S, SC + M, and EE + M. EE was applied from PND1 to PND21, while morphine or saline was given daily (5 μg/s.c.) from PND8 to PND14. Neuromotor development was similar between groups. In the OF test, morphine reduced outer and total crossings, whereas EE increased inner crossings and rearings. Adult rats showed a decrease in outer and total crossings and grooming and an increase in rearing. EE increased the number of protected and unprotected head dipping. Adult rats showed an increase in protected head dipping. Adult rats showed a lower recognition index, and, when exposed to EE, a lower anxiety index and analgesia. EE increased brainstem and hippocampal BDNF levels. Adult rats had increased hypothalamus, spinal cord, and brainstem BDNF levels, an increase in the spinal cord, and decreased hypothalamus TNF-α levels. This study demonstrated that early-life EE raises BDNF levels in the brainstem and hippocampus of rats and modifies their behaviors (such as nociception, exploration, and anxiety) in a state-dependent manner (morphine and age).</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 8","pages":"877-893"},"PeriodicalIF":1.7,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142286387","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":"Prediction of individual performance and verbal intelligence scores from resting-state fMRI in children and adolescents","authors":"Ningning He,&nbsp;Chao Kou","doi":"10.1002/jdn.10375","DOIUrl":"10.1002/jdn.10375","url":null,"abstract":"<p>The neuroimaging basis of intelligence remains elusive; however, there is a growing body of research employing connectome-based predictive modeling to estimate individual intelligence scores, aiming to identify the optimal set of neuroimaging features for accurately predicting an individual's cognitive abilities. Compared to adults, the disparities in cognitive performance among children and adolescents are more likely to captivate individuals' interest and attention. Limited research has been dedicated to exploring neuroimaging markers of intelligence specifically in the pediatric population. In this study, we utilized resting-state functional magnetic resonance imaging (fMRI) and intelligence quotient (IQ) scores of 170 healthy children and adolescents obtained from a public database to identify brain functional connectivity markers associated with individual intellectual behavior. Initially, we extracted and summarized relevant resting-state features from whole-brain or functional network connectivity that were most pertinent to IQ scores. Subsequently, these features were employed to establish prediction models for both performance and verbal IQ scores. Within a 10-fold cross-validation framework, our findings revealed that prediction models based on whole-brain functional connectivity effectively predicted performance IQ scores(\u0000<span></span><math>\u0000 <mi>R</mi>\u0000 <mo>=</mo>\u0000 <mn>0.35</mn>\u0000 <mo>,</mo>\u0000 <mi>P</mi>\u0000 <mo>=</mo>\u0000 <mn>2.2</mn>\u0000 <mo>×</mo>\u0000 <msup>\u0000 <mn>10</mn>\u0000 <mrow>\u0000 <mo>−</mo>\u0000 <mn>4</mn>\u0000 </mrow>\u0000 </msup></math>) but not verbal IQ scores(\u0000<span></span><math>\u0000 <mi>R</mi>\u0000 <mo>=</mo>\u0000 <mn>0.12</mn>\u0000 <mo>,</mo>\u0000 <mi>P</mi>\u0000 <mo>=</mo>\u0000 <mn>0.20</mn></math>). Results of prediction models based on brain functional network connectivity further demonstrated the exceptional predictive ability of the default mode network (DMN) and fronto-parietal task control network (FTPN) for performance IQ scores (\u0000<span></span><math>\u0000 <mi>R</mi>\u0000 <mo>=</mo>\u0000 <mn>0.71</mn>\u0000 <mo>,</mo>\u0000 <mi>P</mi>\u0000 <mo>=</mo>\u0000 <mn>2.2</mn>\u0000 <mo>×</mo>\u0000 <msup>\u0000 <mn>10</mn>\u0000 <mrow>\u0000 <mo>−</mo>\u0000 <mn>18</mn>\u0000 </mrow>\u0000 </msup></math>). The above findings have also been validated using an independent dataset. Our findings suggest that the performance IQ of children and adolescents primarily relies on the connectivity of brain regions associated with DMN and FTPN. Moreover, variations in intellectual performance during childhood and adolescences are closely linked to alterations in brain functional network connectivity.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 7","pages":"779-790"},"PeriodicalIF":1.7,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142265515","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 pilot study: Examining cytoskeleton gene expression profiles in Pakistani children with autism spectrum disorder","authors":"Sana Malik,&nbsp;Syed Aoun Ali,&nbsp;Ahmed Murtaza Mehdi,&nbsp;Amir Raza,&nbsp;Shahid Bashir,&nbsp;Deeba Noreen Baig","doi":"10.1002/jdn.10372","DOIUrl":"10.1002/jdn.10372","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;Finding effective pharmacological interventions to address the complex array of neurodevelopmental disorders is currently an urgent imperative within the scientific community as these conditions present significant challenges for patients and their families, often impacting cognitive, emotional, and social development. In this study, we aimed to explore non-invasive method to diagnose autism spectrum disorders (ASD) within Pakistan children population and to identify clinical drugs for its treatment.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Aims&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;The current report outlines a comprehensive bidirectional investigation showcasing the successful utilization of saliva samples to quantify the expression patterns of profilins (&lt;i&gt;PFN1&lt;/i&gt;, &lt;i&gt;2&lt;/i&gt;, and &lt;i&gt;3&lt;/i&gt;); and ERM (ezrin, radixin, and moesin) proteins; and additionally &lt;i&gt;moesin pseudogene 1&lt;/i&gt; and &lt;i&gt;moesin pseudogene 1 antisense (MSNP1AS)&lt;/i&gt;. Subsequently, these expression profiles were employed to forecast interactions between drugs and genes in children diagnosed with ASD.&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;This study sought to delve into the intricate gene expression profiles using qualitative polymerase chain reaction of &lt;i&gt;profilin&lt;/i&gt; isoforms (&lt;i&gt;PFN1&lt;/i&gt;, &lt;i&gt;2&lt;/i&gt;, and &lt;i&gt;3&lt;/i&gt;) and &lt;i&gt;ERM&lt;/i&gt; genes extracted from saliva samples obtained from children diagnosed with ASD. Through this analysis, we aimed to elucidate potential molecular mechanisms underlying ASD pathogenesis, shedding light on novel biomarkers and therapeutic targets for this complex neurological condition. (&lt;i&gt;n&lt;/i&gt; = 22). Subsequently, we implemented a diagnostic model utilizing sparse partial least squares discriminant analysis (sPLS-DA) to predict drugs against our genes of interest. Furthermore, connectivity maps were developed to illustrate the predicted associations of 24 drugs with the genes expression.&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;Our study results showed varied expression profile of cytoskeleton linked genes. Similarly, sPLS-DA model precisely predicted drug to genes response. Sixteen of the examined drugs had significant positive correlations with the expression of the targeted genes whereas eight of the predicted drugs had shown negative correlations.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Conclusion&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Here we report the role of cytoskeleton linked genes (&lt;i&gt;PFN&lt;/i&gt; and &lt;i&gt;ERM&lt;/i&gt;) in co-relation to ASD. Furthermore, variable yet significant quantitative expression of these genes successfully predicted drug–gene interactions as shown with the help of ","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 7","pages":"769-778"},"PeriodicalIF":1.7,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142265512","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 developmental milestones and of brain measurements in rats exposed to the pesticide pyriproxyfen in prenatal period","authors":"Katriane Endiel Pereira,&nbsp;Gabrielle Batista de Aguiar,&nbsp;Bianca Villanova,&nbsp;Nicole Jansen Rabello,&nbsp;Rafaela Schelbauer,&nbsp;Estela Soares Carniel,&nbsp;Rafaela Maria Moresco,&nbsp;Marcelo Alves de Souza,&nbsp;Lígia Aline Centenaro","doi":"10.1002/jdn.10370","DOIUrl":"10.1002/jdn.10370","url":null,"abstract":"<p>Pyriproxyfen is a pesticide used in Brazil to control the <i>Aedes aegypti</i> mosquito, vector of arboviruses like Zika and dengue. However, this pesticide is structurally similar to retinoic acid, a metabolite of vitamin A that regulates neuronal differentiation and hindbrain development during the embryonic period. Due to the similarity between pyriproxyfen and retinoic acid, studies indicate that this pesticide may have cross-reactivity with retinoid receptors. Thus, pregnant exposure to pyriproxyfen could interfere in the nervous system development of the fetal. In this context, the present study evaluated whether prenatal exposure to pyriproxyfen affects neonatal development and brain structure in rats. Wistar rat pups were divided in three experimental groups: (1) negative control (CT−)—offspring of rats that drink potable water during pregnancy; (2) pyriproxyfen (PIR)—offspring of rats exposed to Sumilarv® prenatally, a pesticide that has pyriproxyfen as active ingredient; and (3) positive control (CT+)—offspring of rats exposed to an excess of vitamin A prenatally. Only vitamin A treated-pregnant showed lower weight gain, but gestation length was similar among pregnant that received potable water, water containing vitamin A and water containing Sumilarv. In relation to the offspring, PIR group exhibits a delayed front-limb suspension response but performed early the negative geotaxis reflex. On the other hand, CT+ group exhibited lower body weight in the 1st postnatal day, delayed audio startle response, but performed early the eyelids opening and hindlimb placing response. A reduction in the maximum brain width was observed both in PIR and CT+ groups, but a reduction in the number of neurons in the M1 cortex was showed only in CT+ group. The number of glial cells in this brain area was similar between the three experimental groups studied. Although prenatal exposure to pyriproxyfen did not alter neonatal milestones in the same way as vitamin A in excess, both substances caused a reduction in the maximum width of the brain, suggesting that this pesticide can produce neurotoxic effects during the embryonic period.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 7","pages":"758-768"},"PeriodicalIF":1.7,"publicationDate":"2024-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142153966","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":"Melatonin attenuates affective disorders and cognitive deficits induced by perinatal exposure to a glyphosate-based herbicide via antioxidant pathway in adult male and female rats","authors":"Abdelghafour El Hamzaoui,&nbsp;Mouloud Lamtai,&nbsp;Mohamed Yassine El Brouzi,&nbsp;Sofia Azirar,&nbsp;Ayoub Rezqaoui,&nbsp;Oussama Zghari,&nbsp;Mustapha El Aoufi,&nbsp;Rihab Nouar,&nbsp;Aboubaker El-Hessni,&nbsp;Abdelhalem Mesfioui","doi":"10.1002/jdn.10374","DOIUrl":"10.1002/jdn.10374","url":null,"abstract":"<p>The massive use of herbicides, particularly glyphosate-based herbicides (GBHs), raises several worries, notably their neurotoxic effects. Several studies have explored the consequences of developmental exposure. Our work aims to determine the impact of maternal exposure to GBH on behavioral disorders and memory deficits, as well as the involvement of oxidative stress in the hippocampus and prefrontal cortex. In addition, our study explores the neuroprotective properties of melatonin in male and female offspring. Pregnant Wistar rats were injected with GBH 75 mg/kg during gestation and lactation. After weaning, the offspring were treated with melatonin (4 mg/kg) from postnatal days 30–58. Our results show that GBH increases anxiety-like behavior levels in offspring, as well as depression-like behavior. GBH also impairs working memory in progeny. While markers of oxidative stress show a disturbance in lipid peroxidation and catalase activity, with a more pronounced effect in females, on the other hand, melatonin considerably attenuated the neurotoxic impact observed in the offspring, with higher efficacy in females. The oxidative stress results confirm the antioxidant power of melatonin to counteract the damaging effects of exposure to environmental contaminants such as glyphosate-based pesticides. It will then be interesting to further our work to fully understand the sex-dependent effect of melatonin.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 7","pages":"745-757"},"PeriodicalIF":1.7,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142119743","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 impact of dexmedetomidine on ketamine-induced neurotoxicity and cognitive impairment in young mice","authors":"Dongdong Chai,&nbsp;Hong Jiang,&nbsp;Xiang Lv","doi":"10.1002/jdn.10373","DOIUrl":"10.1002/jdn.10373","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The potential neuroprotective effects of dexmedetomidine against ketamine-induced neurotoxicity remain inconclusive. This study aims to investigate the influence of dexmedetomidine on ketamine-induced neuronal apoptosis and neurodevelopmental toxicity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In vitro experiments employed concentrations of 0.1 uM for dexmedetomidine and 50 uM for ketamine individually as well as their combination. Changes in apoptotic proteins and dendritic development in neurons were assessed after a 6-h exposure to the drugs with evaluations conducted 24 hs' post-treatment. In vivo experiments entailed intraperitoneal administration starting from postnatal Day 7 (P7) continuously for 3 days (P7–P9) using dosages of 100 mg/kg for ketamine and 1 mg/kg for dexmedetomidine alone or combined. Learning, memory and motor coordination abilities were evaluated via rotary rod tests and shuttle box experiments at P30 and P60, respectively.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Dexmedetomidine effectively mitigated ketamine-induced apoptosis in hippocampal neurons but did not alleviate associated dendritic developmental abnormalities. Although causing reduced motor coordination in mice, no improvement was observed with regard to this effect or reaction speed when treated with dexmedetomidine alongside ketamine.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This study demonstrates that while dexmedetomidine can mitigate ketamine-induced neuronal apoptosis, it has limited impact on its associated neurodevelopmental toxicities.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 7","pages":"735-744"},"PeriodicalIF":1.7,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jdn.10373","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142080259","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":"Identification of novel BCL11A variant in a patient with developmental delay and behavioural differences","authors":"Jian Zha,&nbsp;Yong Chen,&nbsp;Fangfang Cao,&nbsp;Jianmin Zhong,&nbsp;Xiongying Yu,&nbsp;Huaping Wu","doi":"10.1002/jdn.10371","DOIUrl":"10.1002/jdn.10371","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The <i>BCL11A</i> gene is involved in disorders including intellectual disability syndrome (IDS), encodes a zinc finger protein highly expressed in haematopoietic and brain and acts as a transcriptional repressor of foetal haemoglobin (HbF). De novo variants in <i>BCL11A</i> have been associated with IDS, which is characterized by developmental delays, autism spectrum disorder (ASD) and speech and language delays. The reports of <i>BCL11A</i> gene variants are still limited worldwide, and additional cases are needed to expand the variant and phenotype spectrums.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The patient is a 5-year-old girl who was hospitalized due to developmental delays. After analysing her clinical and pathological characterizations, whole-exome sequencing (WES) was performed for pathogenic genetic variants of developmental delay and behavioural differences. Candidate variant in <i>BCL11A</i> gene was identified and further validated by Sanger sequencing.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A heterozygous variant, c.1442delA (p.Glu481Glyfs*25), was identified in exon 4 of the <i>BCL11A</i> gene through WES. This variant results in a truncated expression of the encoded protein. This de novo variant was confirmed by Sanger sequencing. The language delay and behavioural differences were prominent in our patient.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our finding demonstrates that <i>BCL11A</i> variant may cause developmental delay and behavioural differences, expanding the genetic spectrum of the <i>BCL11A</i> gene.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 7","pages":"727-734"},"PeriodicalIF":1.7,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142072778","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":"Phenotypes of autism spectrum disorder and schizoaffective disorder associated with SETD1B gene but without intellectual disability and seizures","authors":"Gül Ünsel-Bolat,&nbsp;Hilmi Bolat","doi":"10.1002/jdn.10369","DOIUrl":"10.1002/jdn.10369","url":null,"abstract":"<p>The <i>SETD1B</i> gene, located on chromosome 12q24, is one of the chromatin-modifying genes involved in epigenetic regulation of gene transcription. The phenotype of pathogenic variants in the <i>SETD1B</i> gene includes intellectual disability, seizures, and language delay (IDDSELD, OMIM 619000). In this study, we present a family consisting of consanguineous parents who died of cancer and their offspring. This family includes two cases diagnosed with autism spectrum disorder (ASD); six cases diagnosed with schizophrenia, bipolar disorder, or schizoaffective disorder; there cases diagnosed with cancer; and five cases who died of unknown causes in early childhood. Three affected members of this family agreed to genetic testing. We used whole exome sequencing. We report a novel in-frame deletion variant of the <i>SETD1B</i> gene in a family with cases diagnosed with schizoaffective disorder and ASD without seizures and intellectual disability. It was found that the phenotypic features were inherited for at least three generations in the family we presented, and it was shown that the pathogenic variant of the <i>SETD1B</i> gene was transmitted from the affected parent to his affected children. In addition, the father was diagnosed with both schizoaffective disorder and leukemia. We proposed an association between rare variants of <i>SETD1B</i> and phenotypes of ASD and schizoaffective disorder without seizures and intellectual disability. The <i>SETD1B</i> gene is included in both the ASD genetic database of SFARI (https://gene.sfari.org/) and the cancer database of COSMIC (https://cancer.sanger.ac.uk/cosmic). However, there are very few reports of <i>SETD1B</i> gene variants as clinical entities. To our knowledge, the <i>SETD1B</i> gene variant has not been previously reported in an individual diagnosed with both a neuropsychiatric disorder and cancer.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 7","pages":"720-726"},"PeriodicalIF":1.7,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142017341","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 conjoint behavioral consultation on achieving communication skills in children with autism spectrum disorder","authors":"Pelin Aykut,&nbsp;Gul Kahveci","doi":"10.1002/jdn.10368","DOIUrl":"10.1002/jdn.10368","url":null,"abstract":"<p>This study, uniquely designed with tact and mand-modeling procedures presented through the Conjoint Behavioral Consultation (CBC) method, aims to evaluate the effects on the communication skills of preschool children with autism spectrum disorder (ASD) and the impact on disruptive behaviors (tantrums) at home. A pilot study with the families of three participants informed the adaptations for the main study, which was implemented with the families of nine participants. The research was conducted using an Embedded Mixed Methods Design, a distinctive approach that allowed for a comprehensive understanding of the outcomes. The primary research design was a single-subject research model with multiple probes across participants' designs, ensuring a thorough and individualized assessment. The study was carried out in both home and clinical settings, involving the participation of special education teachers and families. The findings indicate that the tact and mand-modeling procedures presented through the CBC method significantly improved the children's communication skills and led to substantial reductions in tantrum behaviors. All families indicated that the dependent variables held significant social importance. Significant enhancements were noted in the children's communication skills and social engagements after the intervention. The CBC intervention was determined to be feasible and feasible for families, with no additional expenses accrued. The long-term suitability and usefulness of the product in many environments increased its societal acceptance. This study revealed that the CBC approach had a favorable and reliable effect on academic and behavioral advancement.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 7","pages":"704-719"},"PeriodicalIF":1.7,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141916662","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}