Developmental Neuroscience最新文献

{"title":"Development of a New Scoring System in Higher Animals for Testing Cognitive Function in the Newborn Period: Effect of Prenatal Hypoxia-Ischemia.","authors":"Zhongjie Shi, Nadiya Sharif, Kehuan Luo, Sidhartha Tan","doi":"10.1159/000538607","DOIUrl":"10.1159/000538607","url":null,"abstract":"<p><strong>Introduction: </strong>Enhanced models for assessing cognitive function in the neonatal period are imperative in higher animals. Postnatal motor deficits, characteristic of cerebral palsy, emerge in newborn kits within our prenatal rabbit model of hypoxia-ischemia (HI). In humans, prenatal HI leads to intellectual disability and cerebral palsy. In a study examining cognitive function in newborn rabbits, we explored several questions. Is there a distinction between conditioned and unconditioned kits? Can the kits discern the human face or the laboratory coat? Do motorically normal kits, born after prenatal HI, exhibit cognitive deficits?</p><p><strong>Methods: </strong>The conditioning protocol was randomly assigned to kits from each litter. For conditioning, the same human, wearing a laboratory coat, fed the rabbit kits for 9 days before the cognitive test. The 6-arm radial maze was chosen for its simplicity and ease of use. Normally appearing kits, born after uterine ischemia at 79% or 92% term in New Zealand White rabbits, were compared to naïve kits. On postpartum day 22/23 or 29/30, the 6-arm maze helped determine if the kits recognized the original feeder from bystander (test 1) or the laboratory coat on bystander (test 2). The use of masks of feeder/bystander (test 3) assessed confounding cues. A weighted score was devised to address variability in entry to maze arms, time, and repeated-trial learning.</p><p><strong>Results: </strong>In conditioned kits, both naïve and HI kits exhibited a significant preference for the face of the feeder but not the laboratory coat. Cognitive deficits were minimal in normal-appearing HI kits.</p><p><strong>Conclusion: </strong>The weighted score was amenable to statistical manipulation.</p><p><strong>Introduction: </strong>Enhanced models for assessing cognitive function in the neonatal period are imperative in higher animals. Postnatal motor deficits, characteristic of cerebral palsy, emerge in newborn kits within our prenatal rabbit model of hypoxia-ischemia (HI). In humans, prenatal HI leads to intellectual disability and cerebral palsy. In a study examining cognitive function in newborn rabbits, we explored several questions. Is there a distinction between conditioned and unconditioned kits? Can the kits discern the human face or the laboratory coat? Do motorically normal kits, born after prenatal HI, exhibit cognitive deficits?</p><p><strong>Methods: </strong>The conditioning protocol was randomly assigned to kits from each litter. For conditioning, the same human, wearing a laboratory coat, fed the rabbit kits for 9 days before the cognitive test. The 6-arm radial maze was chosen for its simplicity and ease of use. Normally appearing kits, born after uterine ischemia at 79% or 92% term in New Zealand White rabbits, were compared to naïve kits. On postpartum day 22/23 or 29/30, the 6-arm maze helped determine if the kits recognized the original feeder from bystander (test 1) or the laborator","PeriodicalId":50585,"journal":{"name":"Developmental Neuroscience","volume":" ","pages":"12-26"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11436483/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140319850","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":"Pediatric Post-Infectious Neuroinflammatory Syndromes Come to the Fore.","authors":"Samuel J Pleasure, Samuel J Pleasure","doi":"10.1159/000546082","DOIUrl":"10.1159/000546082","url":null,"abstract":"","PeriodicalId":50585,"journal":{"name":"Developmental Neuroscience","volume":" ","pages":"229-230"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144037757","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":"Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders.","authors":"Janet L Cunningham, Jennifer Frankovich, Robert A Dubin, Erika Pedrosa, Refia Nur Baykara, Noelle Cathleen Schlenk, Shahina B Maqbool, Hedwig Dolstra, Jacqueline Marino, Jacob Edinger, Julia M Shea, Gonzalo Laje, Sigrid M A Swagemakers, Siamala Sinnadurai, Zhengdong D Zhang, Jhih-Rong Lin, Peter J van der Spek, Herbert M Lachman, Herbert M Lachman","doi":"10.1159/000541908","DOIUrl":"10.1159/000541908","url":null,"abstract":"<p><p><p>Introduction: Acute onset of severe psychiatric symptoms or regression may occur in children with premorbid neurodevelopmental disorders, although typically developing children can also be affected. Infections or other stressors are likely triggers. The underlying causes are unclear, but a current hypothesis suggests the convergence of genes that influence neuronal and immunological function. We previously identified 11 genes in pediatric acute-onset neuropsychiatric syndrome (PANS), in which two classes of genes related to either synaptic function or the immune system were found. Among the latter, three affect the DNA damage response (DDR): PPM1D, CHK2, and RAG1. We now report an additional 17 cases with mutations in PPM1D and other DDR genes in patients with acute onset of psychiatric symptoms and/or regression that their clinicians classified as PANS or another inflammatory brain condition.</p><p><strong>Methods: </strong>We analyzed genetic findings obtained from parents and carried out whole-exome sequencing on a total of 17 cases, which included 3 sibling pairs and a family with 4 affected children.</p><p><strong>Results: </strong>The DDR genes include clusters affecting p53 DNA repair (PPM1D, ATM, ATR, 53BP1, and RMRP), and the Fanconi Anemia Complex (FANCE, SLX4/FANCP, FANCA, FANCI, and FANCC). We hypothesize that defects in DNA repair genes, in the context of infection or other stressors, could contribute to decompensated states through an increase in genomic instability with a concomitant accumulation of cytosolic DNA in immune cells triggering DNA sensors, such as cGAS-STING and AIM2 inflammasomes, as well as central deficits on neuroplasticity. In addition, increased senescence and defective apoptosis affecting immunological responses could be playing a role.</p><p><strong>Conclusion: </strong>These compelling preliminary findings motivate further genetic and functional characterization as the downstream impact of DDR deficits may point to novel treatment strategies. </p>.</p>","PeriodicalId":50585,"journal":{"name":"Developmental Neuroscience","volume":" ","pages":"231-250"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12360735/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142479782","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":"Region-Specific Brain Volume Changes Emerge in Adolescence in the Valproic Acid Model of Autism and Parallel Human Findings.","authors":"Cole King, Ivina Mali, Hunter Strating, Elizabeth Fangman, Jenna Neyhard, Macy Payne, Stefan H Bossmann, Bethany Plakke","doi":"10.1159/000538932","DOIUrl":"10.1159/000538932","url":null,"abstract":"<p><strong>Introduction: </strong>Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social and communication deficits, cognitive dysfunction, and stereotyped repetitive behaviors. Regional volume changes are commonly observed in individuals with ASD. To examine volumetric dysregulation across adolescence, the valproic acid (VPA) model was used to induce ASD-like phenotypes in rats.</p><p><strong>Method: </strong>Regional volumes were obtained via magnetic resonance imaging at either postnatal day 28 or postnatal day 40 (P40), which correspond to early and late adolescence, respectively.</p><p><strong>Results: </strong>Consistent with prior research, VPA animals had reduced total brain volume compared to control animals. A novel outcome was that VPA animals had overgrown right hippocampi at P40. Differences in the pattern of development of the anterior cingulate cortex were also observed in VPA animals. Differences for the posterior cingulate were only observed in males, but not females.</p><p><strong>Conclusion: </strong>These results demonstrate differences in region-specific developmental trajectories between control and VPA animals and suggest that the VPA model may capture regional volume changes consistent with human ASD.</p><p><strong>Introduction: </strong>Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social and communication deficits, cognitive dysfunction, and stereotyped repetitive behaviors. Regional volume changes are commonly observed in individuals with ASD. To examine volumetric dysregulation across adolescence, the valproic acid (VPA) model was used to induce ASD-like phenotypes in rats.</p><p><strong>Method: </strong>Regional volumes were obtained via magnetic resonance imaging at either postnatal day 28 or postnatal day 40 (P40), which correspond to early and late adolescence, respectively.</p><p><strong>Results: </strong>Consistent with prior research, VPA animals had reduced total brain volume compared to control animals. A novel outcome was that VPA animals had overgrown right hippocampi at P40. Differences in the pattern of development of the anterior cingulate cortex were also observed in VPA animals. Differences for the posterior cingulate were only observed in males, but not females.</p><p><strong>Conclusion: </strong>These results demonstrate differences in region-specific developmental trajectories between control and VPA animals and suggest that the VPA model may capture regional volume changes consistent with human ASD.</p>","PeriodicalId":50585,"journal":{"name":"Developmental Neuroscience","volume":" ","pages":"68-80"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11511791/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140858865","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":"Acute Onset Neuropsychiatric Conditions in Children and Adolescents following SARS-CoV-2 Infection: A Case Series.","authors":"Mohamed T Jasser, Thomas Ferland, Thomas Bocian, Matthew Goff, Abigail Gauch, Michael V Heinz, Elizabeth Joffrey, Richard Morse, Daniel Albert, Jennifer Frankovich, Juliette C Madan, Mohamed Jasser","doi":"10.1159/000545349","DOIUrl":"10.1159/000545349","url":null,"abstract":"<p><strong>Introduction: </strong>Neuropsychiatric symptoms following SARS-CoV-2 infection have been described in a substantial proportion of patients, acute, subacute, and chronic. Understanding of the neurological and neuropsychiatric sequelae of this virus is an emerging field of study with rapidly evolving descriptions of its impact on the central and peripheral nervous system.</p><p><strong>Case presentation: </strong>Here, we report a series of 8 pediatric patients presenting with acute onset neuropsychiatric symptoms following SARS-CoV-2 infection who received comprehensive medical and psychiatric evaluation and treatment in our research-based Neuroimmune Psychiatric Disorders Program. We provide a review of the research available to date regarding potential mechanisms underlying neuroinflammatory consequences of this endemic infection. Opportunities for further investigations of mechanisms, evaluations and impactful treatments following SARS-CoV-2 infection are described.</p><p><strong>Conclusion: </strong>The pediatric cases presented share acute onset of obsessive-compulsive disorder, psychosis, tics, neurobehavioral and physiological symptoms, with significant response to treatments targeting inflammation in combination with psychiatric and psychological interventions. Ongoing study and identification of this phenomenon of abrupt neuropsychiatric changes following SARS-CoV-2 infection may lead to more effective treatments with potential application to broader populations.</p>","PeriodicalId":50585,"journal":{"name":"Developmental Neuroscience","volume":" ","pages":"316-330"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143701989","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":"Erratum.","authors":"Marta Raposo","doi":"10.1159/000545780","DOIUrl":"10.1159/000545780","url":null,"abstract":"","PeriodicalId":50585,"journal":{"name":"Developmental Neuroscience","volume":" ","pages":"419"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12080962/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144081820","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":"New-Onset OCD and Juvenile Enthesitis-Related Arthritis after COVID-19 (Three Cases).","authors":"Tanya Saini, Meiqian Ma, Jesse Sandberg, Bahare Farhadian, Cindy Manko, Yuhuan Xie, Juliette Madan, Karen Bauer, Paula Tran, Jennifer Frankovich, Meiqian Ma","doi":"10.1159/000545137","DOIUrl":"10.1159/000545137","url":null,"abstract":"<p><strong>Introduction: </strong>Obsessive-compulsive disorder (OCD) is a mental health disorder characterized by obsessions and compulsions. There is a mounting body of evidence suggesting a link between OCD and inflammation. Neuropsychiatric deteriorations have been reported to follow COVID-19 infections, including OCD. Additionally, symptomatic arthritis has also been reported following COVID-19 infection. We aim to describe post-COVID-19 clinical deteriorations presenting to our multidisciplinary immune behavioral health clinic.</p><p><strong>Methods: </strong>One hundred and fifty-one prescreened patients were evaluated in our clinic between March 1, 2020 and August 1, 2024. We systematically searched charts for infection with SARS-CoV-2 and found 3 cases of confirmed COVID-19 infection that preceded an abrupt neuropsychiatric deterioration (in the absence of other detected infections). Per our clinic's latest protocol, all patients underwent a full rheumatology and arthritis evaluation (regardless of joint complaints) including ultrasound imaging, which were used to objectively assess for effusions, synovitis, and capsulitis.</p><p><strong>Results: </strong>Two of the three patients met criteria for a PANS diagnosis. All 3 patients had new-onset OCD or reescalation of OCD with new obsessions/compulsions/rituals post-COVID-19 and all three had imaging findings of effusions +/- synovitis +/- capsulitis despite not having significant complaints of joint pain. Joint pain complaints evolved after psychiatric symptoms improved (because the capacity of the patient to articulate joint pain improved when they were less overwhelmed by intrusive thoughts). Immunomodulatory treatment began with nonsteroidal anti-inflammatory drugs (NSAIDs) and was escalated to disease-modifying antirheumatic drugs (DMARDs) in the 2 patients with synovitis +/- capsulitis. All 3 patients eventually returned to baseline neuropsychiatric health (minimal-to-no OCD and resolution of intense anxiety and mood instability) and also had improvement in arthritic findings after introduction of NSAID +/- DMARDs.</p><p><strong>Conclusion: </strong>Infections may result in systemic immune activation leading to inflammation. Thus, when patients have an acute neuropsychiatric deterioration (hypothesized to have been triggered by an infection), the situation may warrant evaluation for inflammation in other more accessible sites (e.g., joints). Use of this evidence of inflammation (as a sign of immune activation) is helpful since it is difficult to assess for brain inflammation, as clinical brain imaging has poor sensitivity for inflammation and biopsy of the striatum (and other areas involved in OCD) is difficult and limited by risk. In our cases, early joint imaging not only helped confirm signs of systemic inflammation in the setting of neuropsychiatric symptoms, but it also allowed for earlier initiation of immunomodulatory treatment.</p>","PeriodicalId":50585,"journal":{"name":"Developmental Neuroscience","volume":" ","pages":"303-315"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143774820","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-Term Neurologic Consequences following Fetal Growth Restriction: The Impact on Brain Reserve.","authors":"Divyen K Shah, Susana Pereira, Gregory A Lodygensky","doi":"10.1159/000539266","DOIUrl":"10.1159/000539266","url":null,"abstract":"<p><strong>Background: </strong>Fetal growth restriction (FGR) corresponds to the fetus's inability to achieve an adequate weight gain based on genetic potential and gestational age. It is an important cause of morbidity and mortality.</p><p><strong>Summary: </strong>In this review, we address the challenges of diagnosis and classification of FGR. We review how chronic fetal hypoxia impacts brain development. We describe recent advances on placental and fetal brain imaging using magnetic resonance imaging and how they offer new noninvasive means to study growth restriction in humans. We go on to review the impact of FGR on brain integrity in the neonatal period, later childhood, and adulthood and review available therapies.</p><p><strong>Key messages: </strong>FGR consequences are not limited to the perinatal period. We hypothesize that impaired brain reserve, as defined by structure and size, may predict some concerning epidemiological data of impaired cognitive outcomes and dementia with aging in this group of patients.</p><p><strong>Background: </strong>Fetal growth restriction (FGR) corresponds to the fetus's inability to achieve an adequate weight gain based on genetic potential and gestational age. It is an important cause of morbidity and mortality.</p><p><strong>Summary: </strong>In this review, we address the challenges of diagnosis and classification of FGR. We review how chronic fetal hypoxia impacts brain development. We describe recent advances on placental and fetal brain imaging using magnetic resonance imaging and how they offer new noninvasive means to study growth restriction in humans. We go on to review the impact of FGR on brain integrity in the neonatal period, later childhood, and adulthood and review available therapies.</p><p><strong>Key messages: </strong>FGR consequences are not limited to the perinatal period. We hypothesize that impaired brain reserve, as defined by structure and size, may predict some concerning epidemiological data of impaired cognitive outcomes and dementia with aging in this group of patients.</p>","PeriodicalId":50585,"journal":{"name":"Developmental Neuroscience","volume":" ","pages":"139-146"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11965808/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140917406","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":"The Association between Ventricle Ratio in Preterm Infants and Motor Developmental Delay.","authors":"Hyun Iee Shin, Na Mi Lee, Sun Mi Kim, Hyunchan Hwang, Gangta Choi, Doug Hyun Han, Don-Kyu Kim","doi":"10.1159/000540754","DOIUrl":"10.1159/000540754","url":null,"abstract":"<p><strong>Introduction: </strong>Early prediction and timely intervention are particularly essential for high-risk preterm infants. Brain magnetic resonance imaging (BMRI) is frequently used alongside functional evaluations to improve predictions of developmental outcomes. This study aimed to assess voxel-based brain volumetry in extremely preterm infants using BMRI at term equivalent age (TEA) and investigate its association with developmental outcomes.</p><p><strong>Methods: </strong>From March 2016 to December 2019, high-risk preterm infants (birth weight <1,500 g or gestational age <32 weeks) with BMRI at TEA and follow-up developmental data assessed by Bayley-III were included. For BMRI volumetry, manual tracing and segmentation were performed on T1-weighted scans, and after smoothing, voxels were calculated for each brain segment. Forty-seven subjects were enrolled and categorized into typical/delayed motor groups.</p><p><strong>Results: </strong>Results revealed a significant difference in ventricle size and ventricle ratio in BMRI at TEA between the groups. Even after controlling for other factors that could influence developmental outcomes, ventricle ratio emerged as a robust, single predictor for future motor development.</p><p><strong>Conclusion: </strong>This study suggests the potential clinical utility of BMRI volumetry in predicting motor development outcomes.</p>","PeriodicalId":50585,"journal":{"name":"Developmental Neuroscience","volume":" ","pages":"183-192"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142121048","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":"Erratum.","authors":"Marta Raposo","doi":"10.1159/000545723","DOIUrl":"10.1159/000545723","url":null,"abstract":"","PeriodicalId":50585,"journal":{"name":"Developmental Neuroscience","volume":" ","pages":"420"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12088649/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144103056","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}