{"title":"Epilepsy of Infancy With Migrating Focal Seizures","authors":"Samuel Kamoroff, Harry Abram, Fernando Galan","doi":"10.1002/cns3.70014","DOIUrl":"https://doi.org/10.1002/cns3.70014","url":null,"abstract":"<p>This 3-month-old boy had frequent recurrent events of right-arm stiffening and right head turn suggestive of focal seizures. Continuous electroencephalogram (EEG) showed subclinical focal seizures arising independently from the right occipital and left posterior head regions. These events persisted despite escalating use of lacosamide, levetiracetam, and phenobarbital. Given the patient's age, epilepsy of infancy with migrating focal seizures (EIMFS) was suspected. Early investigation with whole-exome sequencing revealed homozygous pathogenic variants in <i>SLC12A5</i> (c.986C > A, p.Ala329Asp). Early recognition is vital in this epilepsy syndrome due to the difficulty in treating and subsequent prognosis. Given the expected drug resistance, early or urgent initiation of the ketogenic diet should be considered. The overall prognosis is not favorable, as poor developmental outcomes are expected.</p><p>EIMFS is a severe infantile-onset epilepsy syndrome characterized by refractory seizures, developmental delay, and migrating focal discharges [<span>1</span>]. <i>SLC12A5</i> mutations have been identified as a cause of EIMFS, with nine patients reported to date, but <i>KCNT1</i> remains responsible for about 50% of cases [<span>2</span>] (Figure 1). <i>SLC12A5</i> encodes the potassium-chloride cotransporter KCC2, which is crucial for maintaining synaptic inhibition [<span>3</span>]. Mutations in <i>SLC12A5</i> lead to decreased KCC2 surface expression, impaired chloride extrusion, and reduced protein glycosylation, resulting in neuronal hyperexcitability [<span>3</span>]. EIMFS typically presents before 6 months of age with focal motor seizures that become multifocal and intractable [<span>2</span>]. Treatment options are limited, but the ketogenic diet and potassium bromide have shown potential efficacy [<span>2</span>]. <i>SLC12A5</i>-related EIMFS is inherited in an autosomal recessive manner, with both de novo and inherited mutations reported [<span>4</span>].</p><p><b>Samuel Kamoroff:</b> conceptualization, writing – original draft, writing – review and editing, data curation. <b>Harry Abram:</b> writing – review and editing, data curation, supervision. <b>Fernando Galan:</b> conceptualization, writing – review and editing, data curation, supervision.</p><p>The authors declare no conflicts of interest.</p>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 2","pages":"125-126"},"PeriodicalIF":0.0,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70014","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144299539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sara A. Rubin, Peter E. Davis, Miya E. Bernson-Leung
{"title":"Child Neurology Workforce Shortage: Challenges and Recommendations for Researching and Recruiting the Next Generation of Child Neurologists","authors":"Sara A. Rubin, Peter E. Davis, Miya E. Bernson-Leung","doi":"10.1002/cns3.70011","DOIUrl":"https://doi.org/10.1002/cns3.70011","url":null,"abstract":"<p>For subspecialities like child neurology in which demand is predicted to increase and further exceed supply, understanding what attracts individuals to the field and deters individuals from it is particularly valuable. To explore this, we recently surveyed medical students and residents who had completed child neurology clerkships at US medical schools within the last approximately 7 years to investigate the antecedent factors that led to interest in these clerkships and the factors that subsequently impacted residency choice, child neurology or otherwise. Current child neurology and neurodevelopmental disabilities residents (postgraduate years [PGY] 1 through 5) and current medical students who completed at least one child neurology clerkship at a US medical institution were invited to complete an online survey through their residency program coordinators/directors or clerkship coordinators/directors. While our 38 respondents gave us useful insights, our difficulty reaching a larger sample of the population of interest (likely ~1000−5000 individuals) highlights several barriers to conducting workforce research. Here, we share relevant literature and our observations on the pipeline for careers in child neurology, current research challenges, and potential paths forward.</p><p>Early exposure to child neurology is critical for sparking interest in the field. Although studies have used different definitions of “early,” frequently referring to college and medical school [<span>1</span>], it is becoming more apparent that no exposure is too early for igniting interest. In our study, the most common timeframe for initial exposure to neurology was during college at 39%; however, exposure in high school or earlier was almost equally as common (37%). Popular media such as books by Oliver Sacks and fictional characters like Sherlock Holmes have been cited in residency personal statements as motivating interest in neurology [<span>2</span>]. These exposures along with chance encounters with neurologists through personal or family experience with neurological conditions, pediatric or otherwise, appear to be relevant when medical students are planning their career paths. It remains to be explored whether the specific exposure (pediatric, e.g., a sibling with autism, or adult, e.g., a grandparent with Alzheimer's disease) influences whether one decides to go into child neurology or adult neurology, especially given the lack of awareness among premedical and medical students that child neurology is its own specialty. Studying these types of “early” exposures could be fruitful for understanding how early lifeexperiences influence motivation to enter medicine and eventual specialty choice.</p><p>Undergraduate neuroscience courses are another crucial early exposure to the field. At present, there are inequities in access to such courses, which has implications for recruiting a diverse workforce [<span>3</span>]. In our survey, 24% of participants indicated tha","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 2","pages":"68-70"},"PeriodicalIF":0.0,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70011","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144299652","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Fenfluramine: An Uncommon Cause of False Positive Urine Drug Testing: A Case Report","authors":"Maria Ghawji, Meagan Hainlen, Charuta Joshi","doi":"10.1002/cns3.70012","DOIUrl":"https://doi.org/10.1002/cns3.70012","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Fenfluramine is an antiseizure medication approved by the Food and Drug Administration for the treatment of Dravet syndrome in patients older than 2 years. Fenfluramine is an amphetamine derivative. It cross-reacts with amphetamines in urine drug screen immunoassays.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patient Presentation</h3>\u0000 \u0000 <p>A 2-year-old patient with Dravet syndrome had a cardiorespiratory arrest and tested positive for amphetamines in a urine drug screen, raising concerns of child abuse. Liquid chromatography–mass spectrometry confirmed the presence of fenfluramine but did not detect amphetamines.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Fenfluramine can result in a false-positive amphetamine urine drug screen at the recommended dose for Dravet syndrome. Awareness of this potential cross-reactivity can prevent undue child protective services reports, especially in patients at high risk for sudden death.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 2","pages":"121-124"},"PeriodicalIF":0.0,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70012","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144299653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Carol Park, Douglas R. Nordli III, Mohamed Taha, Henry David, Shawn Kacker, Tareq Kass-Hout, Sonam Thind, Aurelie Hanin, Sana Said, Hiba A. Haider, Douglas R. Nordli Jr.
{"title":"Advancing FIRES Treatment: The Potential of Intrathecal Dexamethasone","authors":"Carol Park, Douglas R. Nordli III, Mohamed Taha, Henry David, Shawn Kacker, Tareq Kass-Hout, Sonam Thind, Aurelie Hanin, Sana Said, Hiba A. Haider, Douglas R. Nordli Jr.","doi":"10.1002/cns3.70008","DOIUrl":"https://doi.org/10.1002/cns3.70008","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Febrile infection-related epilepsy syndrome (FIRES) is a rare, devastating epilepsy syndrome characterized by refractory status epilepticus following a febrile illness.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patient Description</h3>\u0000 \u0000 <p>We describe a 12-year-old girl with FIRES who exhibited a remarkable clinical and electrographic response to intrathecal dexamethasone (IT-DEX) after failing multiple antiseizure and immunomodulatory therapies. Despite persistent neuroinflammation, IT-DEX led to rapid seizure control and significant neurological recovery.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This report supports IT-DEX as a promising intervention in FIRES and underscores the need for further research into its mechanisms and long-term efficacy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 2","pages":"115-120"},"PeriodicalIF":0.0,"publicationDate":"2025-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70008","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144299750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Correction to “Rett Syndrome: The Natural History Study Journey”","authors":"","doi":"10.1002/cns3.70004","DOIUrl":"https://doi.org/10.1002/cns3.70004","url":null,"abstract":"<p>Percy AK, Benke TA, Marsh ED, Neul JL. Rett syndrome: The Natural History Study Journey. <i>Ann Child Neurol Soc</i>. 2024;2(3):189–205. doi: 10.1002/cns3.20086.</p><p>We apologize for this error.</p>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70004","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144300297","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"“Ears of the Lynx” Sign on Brain MRI in Siblings With Spastic Paraplegia: A Case Report","authors":"Qingqing Wang, Manikum Moodley","doi":"10.1002/cns3.20105","DOIUrl":"https://doi.org/10.1002/cns3.20105","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Hereditary spastic paraplegia (HSP) is a rare, clinically and genetically heterogenous condition that selectively affects the terminal segment of the descending corticospinal tract of the lumbar spine area, causing lower extremity spastic weakness with or without associated complex neurological symptoms. HSP type 11 is the most common form of autosomal recessive HSP and has unique clinical and neuroimaging features.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We describe the clinical manifestations and imaging features of siblings with childhood-onset autosomal recessive HSP. Genetic testing confirmed compound heterozygous spastic paraplegia gene (SPG) 11 mutations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The older brother developed poor balance and progressive difficulty with walking starting in childhood. He also experienced poor memory and urinary incontinence. He was born preterm at 30 weeks and was developmentally delayed and cognitivly impaired. His examination revealed length-dependent corticospinal tract signs. Magnetic resonance imaging (MRI) showed thinning of the corpus callosum and periventricular signal changes. His earlier cerebral palsy (CP) diagnosis was based on the history and imaging findings, but rcognition of the “ears of the lynx” MRI sign led to the correct diagnosis of HSP 11 with the Invitae HSP gene panel. The younger sister has similar but milder manifestations and, has the same mutation as her brother.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Although the manifestations of HSP in children often mimic those of CP, the management and progression of HSP differ substantially.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 2","pages":"105-109"},"PeriodicalIF":0.0,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20105","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144300221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Synergy in Child Neurology: Science, Collaboration, and Leadership – The 2024 Hower Award Lecture","authors":"Renée A. Shellhaas","doi":"10.1002/cns3.70005","DOIUrl":"https://doi.org/10.1002/cns3.70005","url":null,"abstract":"<p>This is an exciting era in child neurology! The scientific state of the art is accelerating rapidly. New diagnostics and treatments are here – or are coming quickly. And our community of researchers, clinicians, and educators is becoming more diverse and increasingly representative of the children and families we serve.</p><p>Of course, we have our challenges. What does it take to be a successful researcher in the current climate? How do we best take care of the many patients who need us? How do we recruit new colleagues and retain them in the field? Who will be the next wave of child neurology leaders? None of these questions have easy answers, but the solutions come down to three fundamental values: great science, effective and consistent collaboration, and excellent leadership.</p><p>Since the state of the art is advancing so quickly, this is a crucial time to mindfully evaluate how the new data can be incorporated into clinical practice. Apart from our need for rigorous training in implementation science and quality improvement methodology, one of our field's main challenges is the limited number of clinicians available to care for children with neurologic disease.</p><p>In 2024, 177 medical students matched into US child neurology residency programs [<span>47</span>]. We do not currently have a systematic approach to quantifying the number of nurse practitioners or physician assistants in child neurology (personal communication, Mona Jacobson, president, ACNN), but such advanced practice providers are clearly a key element of expanded access to clinical care. To enable continued advances in the state of the art, it is crucial that every single one of these individuals succeeds and is retained in child neurology. And we need to recruit far more.</p><p>Early exposure to child neurology is an essential long-term strategy. From effective pipeline programs for school-aged children, to exposure to neurosciences in the undergraduate years, and learning from outstanding and inspirational clinicians in the early months of medical and nursing school, educators matter.</p><p>It is clear that we need to develop excellent leaders in child neurology. There are countless open positions for division chiefs, section heads, and program leaders – not to mention department chairs in Pediatrics and Neurology. The <i>CNS</i> now has a committee on Leadership, Diversity, Equity, and Inclusion. This team is working to develop appropriate programming, but it is clear that support for emerging leaders must come from a range of sources – from national organizations to medical school offices of faculty development, to individuals who are willing to advise, mentor, and sponsor.</p><p>For senior child neurologists, this is a critical time to actively identify and develop emerging leaders. Challenging high-performers so they are constantly learning and performing at their highest potential is key for retention and career satisfaction – with benefit to the entire field ","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 2","pages":"71-77"},"PeriodicalIF":0.0,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70005","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144300410","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Annie E. Richard, Ingrid E. Scheffer, Sarah J. Wilson
{"title":"Deep Phenotyping of the Broader Autism Phenotype in Epilepsy: A Transdiagnostic Marker of Epilepsy and Autism Spectrum Disorder","authors":"Annie E. Richard, Ingrid E. Scheffer, Sarah J. Wilson","doi":"10.1002/cns3.20104","DOIUrl":"https://doi.org/10.1002/cns3.20104","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>We conducted deep and minimal phenotyping of the broader autism phenotype (BAP) in people with epilepsy (PWE) and compared its expression with published rates in the general population and relatives of individuals with autism spectrum disorder (ASD-relatives). We then examined the association of clinical epilepsy variables with BAP expression to explore its underpinnings in PWE.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>103 adults with seizures (<i>M</i><sub>age</sub> = 37.37, SD = 12.50; 47% males; 51 temporal lobe epilepsy, 40 genetic generalized epilepsy, 12 other) and 58 community members (<i>M</i><sub>age</sub> = 39.59, SD = 14.56; 35% males) underwent deep phenotyping using the observer-rated Autism Endophenotype Interview and minimal phenotyping with the Broader Autism Phenotype Questionnaire (BAPQ). Published rates of the BAP were ascertained from large randomly selected samples (<i>n</i> > 100) of the general population and ASD-relatives based on BAPQ data.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>There was a higher rate of BAP in PWE (15% males, 27% females) compared with the general population (5% males, 7% females) and a similar rate to ASD-relatives (9% males, 20% females). Deep phenotyping identified an additional 22 males and 10 females, with the combined measures indicating elevated rates of the BAP in PWE (44% males, 36% females). Only a shorter duration of epilepsy was weakly correlated with BAP trait expression in males (<i>r</i> = − 0.21, <i>p</i> = 0.05).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>PWE have a high rate of BAP, largely unrelated to secondary clinical epilepsy effects. The BAP may provide a trans-diagnostic marker of shared etiological mechanisms of epilepsy and ASD and partly account for psychosocial difficulties faced by PWE with childhood or adult onset of seizures.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 2","pages":"78-90"},"PeriodicalIF":0.0,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20104","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144300198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Michael E. Baumgartner, Sudha Kessler, Kathleen Galligan, James E. Baumgartner, Benjamin C. Kennedy
{"title":"Salvage Trans-Sylvian Peri-Insular Hemispherotomy After Embolic Hemispherectomy","authors":"Michael E. Baumgartner, Sudha Kessler, Kathleen Galligan, James E. Baumgartner, Benjamin C. Kennedy","doi":"10.1002/cns3.70003","DOIUrl":"https://doi.org/10.1002/cns3.70003","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Hemispherectomy and hemispherotomy represent well-established treatments for drug-resistant hemispheric epilepsy. An alternative endovascular procedure has been explored for cases with challenging surgical anatomy, which seeks to achieve the clinical effect of hemispherectomy via embolization of the major cerebral arteries and subsequent hemispheric infarction. Neither the safety nor effectiveness of this procedure has been established.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patient Description</h3>\u0000 \u0000 <p>A 4-month-old girl with a history of drug-resistant focal epilepsy due to left-sided hemimegalecephaly previously treated with endovascular hemispherectomy at another institution presented for surgical evaluation due to ongoing electroclinical seizures despite multiple antiseizure medications. Pre-operative magnetic resonance imaging (MRI) revealed viable tissue, including mesial temporal structures, and a salvage hemispherotomy was performed. The embolized cortex was surprisingly well-perfused intra-operatively. Postoperatively, she has had no further seizures at 1-year follow-up.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Embolization of the three large hemispheric arteries achieved neither complete hemispheric destruction nor complete disconnection in this case and did not resolve the patient's seizures, necessitating salvage hemispherotomy. While it is difficult to draw definitive conclusions from a single patient's course, our experience suggests that endovascular hemispheric destruction may not be an effective substitute for surgical hemispherectomy or hemispherotomy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 2","pages":"110-114"},"PeriodicalIF":0.0,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144300199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Juliana Wall, Gillian N. Miller, Joseph J. Taylor, Jacob L. Stubbs, Simon K. Warfield, Alexander L. Cohen
{"title":"Coordinate Network Mapping of Focal Brain Volume Differences in ADHD Reveals Common Patterns That Lack Specificity: A Systematic Review","authors":"Juliana Wall, Gillian N. Miller, Joseph J. Taylor, Jacob L. Stubbs, Simon K. Warfield, Alexander L. Cohen","doi":"10.1002/cns3.20108","DOIUrl":"https://doi.org/10.1002/cns3.20108","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Attention-deficit/hyperactivity disorder (ADHD) has been associated with decreased regional brain volume, yet no consistent localization has emerged across studies. This discrepancy has been attributed to ADHD's diagnostic heterogeneity; however, one alternative is that ADHD is associated with alterations of brain networks, not individual regions. To test this hypothesis, we compared a traditional anatomic likelihood estimate (ALE) with a “coordinate network mapping” (CNM) approach using data from 38 studies comparing regional brain volumes in ADHD versus healthy controls.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We performed an ALE analysis, determining above-chance convergence between experiments. Next, we calculated the overlap with the putamen and default mode network, defined a priori. We then applied CNM, generating connectivity maps for each study and statistically comparing these maps to identify common areas of connectivity across studies. Finally, we compared the network map of ADHD with several control groups of neuropsychiatric disorders and with randomly generated coordinates.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>ALE identified no significant spatial convergence between experiments. We also found only limited spatial overlap with the default mode network and weak functional connectivity with the putamen. Conversely, CNM revealed that the heterogenous coordinates fell within a consistent brain network characterized by connectivity with the reward and cingulo-opercular “action mode” networks. However, we could not differentiate this network from the CNM-derived networks in control groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Although this network is biologically plausible and consistent with ADHD symptoms, the findings suggest that this network is not specific to ADHD and may reflect large-scale brain networks. Although this meta-analysis adds to the literature on the neurobiology of ADHD, the nonspecific findings convey the importance of studying ADHD at the symptom level.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 2","pages":"91-104"},"PeriodicalIF":0.0,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20108","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144299748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}