Annals of the Child Neurology Society最新文献

{"title":"Sturge–Weber syndrome: Updates in pathogenesis, diagnosis, and treatment","authors":"Chelsea B. Valery,&nbsp;Anne M. Comi","doi":"10.1002/cns3.20031","DOIUrl":"10.1002/cns3.20031","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>We summarize the current knowledge of Sturge–Weber syndrome (SWS) including genetic involvement, difficulties in diagnosis, symptoms caused by the vascular malformations, treatments, and future areas of research.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>PubMed searches were completed between October and December of 2022 including the following search terms: Sturge–Weber neuroimaging, Sturge–Weber ocular involvement, Sturge–Weber G-protein alpha q subunit (<i>GNAQ</i>), Sturge–Weber presymptomatic treatment, and Sturge–Weber quantitative EEG. Clinically relevant articles and case reports were reviewed and summarized, with emphasis placed on reports from the last 20 years.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Literature suggests that early identification of brain involvement is essential for optimal medical care. Infants with a port-wine birthmark on the forehead, temple, or eyelids are at risk for SWS brain and eye involvement. Neuroimaging findings include leptomeningeal enhancements, cortical calcifications, and brain atrophy, and diagnosis requires magnetic resonance imaging with and without contrast. Before 1 year of age, neuroimaging has low sensitivity and may underestimate the extent of involvement; imaging after 1 year of age is needed to exclude brain involvement. The most common underlying cause for SWS is a somatic mosaic mutation in <i>GNAQ</i>. Neurological symptoms include seizures, stroke or stroke-like episodes, headaches, and cognitive deficits. Recommended treatment for SWS brain involvement includes aggressive seizure control with antiepileptic medications; low-dose aspirin is also frequently but not universally utilized. Current literature suggests that children with SWS may benefit from presymptomatic treatment; further study of this approach is ongoing.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>SWS is a rare neurovascular disorder usually signaled by a facial port-wine birthmark. Early diagnosis and appropriate treatment may improve outcomes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 3","pages":"186-201"},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20031","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44735859","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":"Tuberculoma development in tuberculosis immune reconstitution inflammatory syndrome in an infant","authors":"Alexandria E. Melendez-Zaidi,&nbsp;Fábio A. Nascimento,&nbsp;Nikita M. Shukla,&nbsp;Thierry A. G. M. Huisman","doi":"10.1002/cns3.20030","DOIUrl":"10.1002/cns3.20030","url":null,"abstract":"<p>A 14-month-old girl presented to the emergency department (ED) with two weeks of fever, vomiting, and new onset focal and generalized seizures and was diagnosed with tuberculosis (TB) meningitis based on imaging and serum studies, later confirmed by a TB-specific culture of the cerebral spinal fluid (CSF, acid-fast bacilli culture). She was started on anti-TB combination therapy (rifampin, isoniazid, pyrazinamide, and levofloxacin). One month later she returned to the ED with 10 days of fussiness, beginning after receiving scheduled vaccinations. Neuroimaging revealed intraparenchymal and leptomeningeal tuberculomas surrounding the anterior and posterior circulation (middle panel), which were absent from prior imaging (left panel). Repeat CSF cultures were negative for TB or other infections, leading to a diagnosis of paradoxical TB immune reconstitution inflammatory syndrome (TB-IRIS). She was started on steroids, and tuberculomas resolved within six months (right panel). She has remained seizure-free but has persistent delays in communication.</p><p>Paradoxical TB-IRIS is a severe immune response that causes clinical worsening of TB lesions following initiation of appropriate treatment.<span>¹</span> Though rare, neurological symptoms from TB-IRIS develop at a median of 60 days after treatment.<span>^{1, 2}</span> Imaging classically demonstrates tuberculomas and/or meningitis. Patients are at a high risk of stroke given the tendency to develop lesions within the basal cisterns. Young children may be at higher risk of complications because their symptoms are often nonspecific (e.g., fussiness), leading to a delay in diagnosis (Figure 1).</p><p><b>Alexandria E. Melendez-Zaidi</b>: Conceptualization; writing—original draft; writing—review and editing. <b>Fábio A. Nascimento</b>: Writing—review and editing. <b>Nikita M. Shukla</b>: Resources; writing—review and editing. <b>Thierry A. G. M. Huisman</b>: Resources; supervision; writing—original draft; writing—review and editing. All authors accept responsibility for conduct of the research.</p><p>The authors declare no conflicts of interest.</p>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 3","pages":"252-253"},"PeriodicalIF":0.0,"publicationDate":"2023-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20030","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43424919","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":"A question prompt list for sudden unexpected death in epilepsy","authors":"Simran Bansal,&nbsp;Isabella K. Pallotto,&nbsp;Renée A. Shellhaas,&nbsp;Gardiner Lapham,&nbsp;Thomas Stanton,&nbsp;Zachary Grinspan,&nbsp;Jeffrey Buchhalter,&nbsp;Elizabeth J. Donner,&nbsp;J. Kelly Davis,&nbsp;Shital H. Patel,&nbsp;Monica E. Lemmon","doi":"10.1002/cns3.20027","DOIUrl":"10.1002/cns3.20027","url":null,"abstract":"<p>Sudden unexpected death in epilepsy (SUDEP) is a common cause of premature mortality in people with epilepsy.<span>¹</span> Professional guidelines and existing data from caregivers of children with epilepsy support SUDEP risk disclosure in the clinical setting. <span>¹</span> Yet SUDEP risk disclosure remains a challenge for both clinicians and caregivers.<span>²</span> Barriers to clinician risk disclosure may include fear of exacerbating caregiver anxiety, discomfort navigating complex communication, lack of knowledge, and limitations in SUDEP prevention strategies.<span>²</span> Caregivers may be unsure of which questions to ask or feel hesitant voicing their questions.<span>²</span> Question prompt lists (QPLs) have the potential to empower caregiver question-asking and decrease unmet informational needs about SUDEP.<span>³</span></p><p>In a prospective cross-sectional study, we consulted existing literature on SUDEP communication preferences to design a 24-question survey for caregivers of children with epilepsy.<span>⁴</span> A stakeholder advisory committee comprised of caregivers, epileptologists, and advocates provided guidance on study design and survey content. Of the survey questions, 14 asked for caregiver demographic information and child epilepsy history, while 10 centered on caregivers' knowledge of SUDEP and communication preferences for SUDEP risk disclosure.<span>⁵</span> To collect responses from caregivers, we partnered with advocacy organizations, who posted a link to the survey in their general membership groups. An open-ended survey question prompted caregivers to list any questions they recommend that other patients and families ask their clinicians about SUDEP. Caregiver responses were collated, collapsed, and refined for clarity and reading level. We used Canva (Canva Pty Ltd.) to generate a QPL to complement conversations about SUDEP risk.</p><p>One hundred nineteen of the 212 caregivers who participated in the survey submitted a total of 251 questions. Respondents had a median age of 42 years (range: 18–69 years), had children with a median of 15 seizures per year (range: 4–≥100), and primarily identified as White (<i>n</i> = 112/119, 94.1%). Twelve respondents identified as bereaved (Table 1).</p><p>Collation and categorization of caregiver responses resulted in the identification of 14 questions endorsed by caregivers (Figure 1). Suggested questions included content about ways to mitigate risk, such as “Is there anything that I can do to prevent SUDEP?” and “What is the safest way for my child to sleep?” Other questions, such as “How do I talk about SUDEP with my child's siblings?” focused on addressing SUDEP with loved ones. Caregivers also sought to know how SUDEP risk would impact the quality of life and activities of daily living, submitting questions such as “What does the risk of SUDEP mean for my child's daily life?” A","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 2","pages":"144-148"},"PeriodicalIF":0.0,"publicationDate":"2023-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20027","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44615089","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":"Hemimegalencephaly and intractable focal seizures related to NPRL3 mutation with variable familial expressivity treated with anatomic hemispherectomy","authors":"Richard B. Carozza,&nbsp;Robert P. Naftel,&nbsp;Asha Sarma,&nbsp;Emma G. Carter","doi":"10.1002/cns3.20029","DOIUrl":"10.1002/cns3.20029","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Hemimegalencephaly is a syndrome of dysplastic cortical formation, with hamartomatous overgrowth of a cerebral hemisphere, classically associated with intractable focal epilepsy, hemiparesis, and hemianopia. While often cryptogenic, associations with various proliferative syndromes have been implicated, such as in our patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patient Description</h3>\u0000 \u0000 <p>We present a newborn with intractable focal epilepsy due to hemimegalencephaly caused by an inherited mutation in nitrogen permease regulator-like 3 (<i>NPRL3</i>). He underwent anatomic hemispherectomy. His phenotype was more severe than that of other family member, which is consistent with recent studies suggesting that <i>NPRL3</i> and other genes implicated in familial focal epilepsy with variable foci (FFEVF) produce a phenotypic range.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Hemimegalencephaly can produce intractable focal epilepsy and has been associated with various genetic causes, including <i>NPRL3</i> mutations. We describe the fifth patient with hemimegalencephaly secondary to <i>NPRL3</i> and the only one to undergo anatomic hemispherectomy. Given the small number of documented patients, more research is needed to elucidate the role of interventions such as sirolimus and palliative surgical procedures such as hemispherectomy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 3","pages":"239-243"},"PeriodicalIF":0.0,"publicationDate":"2023-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20029","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42122570","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":"An introduction to ICD code development for pediatric neurology","authors":"Monika J. Baker,&nbsp;Joshua L. Bonkowsky","doi":"10.1002/cns3.20028","DOIUrl":"10.1002/cns3.20028","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Querying large data sets in the United States is challenging due to limitations of International Classification of Diseases 10th edition Clinical Modification (ICD-10-CM) codes. ICD codes were developed for tracking mortality and for billing purposes but are also the most widely used data structure to represent clinically significant and distinct disorders. We report an approach for developing new ICD codes based on our work creating new codes for leukodystrophies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Important steps in ICD-10-CM code development include working with the ICD-10-CM Coordination and Maintenance Committee, a subset of the National Center of Health Statistics (NCHS); working to ensure the code has the best placement and is appropriate for submission; presenting the code and accompanying proposal (rationale) at a Coordination and Maintenance Committee Meeting; and requesting letters of support and addressing concerns raised by various groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We describe the historical development of ICD codes as well as their current hierarchical structure. Important features for successful code development included consulting future ICD-11-CM code structure; determining which codes are most important to the community; having a multidisciplinary approach; and obtaining organizational and institutional support.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Focusing on the clinical importance of leukodystrophy codes was important for their approval. Although challenging, there is a route for new code development, and we were ultimately successful in obtaining approval for 10 new leukodystrophy ICD-10-CM codes. Understanding ICD codes and their structure, considering their usage for clinical and research work, and appreciating how new codes can be developed is important for the pediatric neurology community.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 3","pages":"180-185"},"PeriodicalIF":0.0,"publicationDate":"2023-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20028","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48979140","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":"New-onset refractory status epilepticus (NORSE) secondary to Bartonella henselae infection in a pediatric patient","authors":"Siefaddeen Sharayah,&nbsp;Maria M. Galardi,&nbsp;Soe Mar","doi":"10.1002/cns3.20026","DOIUrl":"10.1002/cns3.20026","url":null,"abstract":"<p>New-onset refractory status epilepticus (NORSE) is a rare and devastating clinical entity, often without a clearly identified etiology despite extensive testing or known predisposing neurological disorders.<span>¹</span> We describe a child with NORSE in the setting of active/recent <i>Bartonella henselae</i> infection who responded well to multiple anticonvulsants, immunomodulatory therapy, and antimicrobial therapy.</p><p>A normally developing five-year-old boy with attention deficit/hyperactivity disorder and no history of seizures was found unresponsive with generalized body stiffening and facial twitching. The patient had several days of cough and congestion with no fevers prior to his presentation. Seizures persisted despite repeated doses of benzodiazepines and therapeutic doses of levetiracetam, phenobarbital, and fosphenytoin. Electroencephalography (EEG) showed ictal and peri-ictal discharges in the right posterior and left posterior/lateral head regions consistent with status epilepticus, requiring midazolam infusion. Due to continued status despite up-titration of midazolam, pentobarbital was added to achieve burst suppression.</p><p>The patient underwent a broad toxic, metabolic, genetic, infectious disease, and autoimmune evaluation. Rhinovirus/enterovirus RNA was detected on the nasopharyngeal swab, and his cerebrospinal fluid (CSF) sample showed 0/cmm (cubic millimeter) white blood cells, 15/cmm and 38/cmm red blood cells in tubes 1 and 4, respectively, glucose 64 mg/dL, protein 41 mg/dL, negative cultures, and negative herpes simplex virus and enterovirus polymerase chain reaction. In addition to levetiracetam, lacosamide was added to his scheduled antiseizure regimen when pentobarbital was being weaned, and high-dose methylprednisolone was tried on hospital day five for a total of five days. Head computed tomography and magnetic resonance imaging with and without contrast were normal. Two doses of intravenous immunoglobulin (IVIG) were administered on hospital days six and seven. CSF cytokine profile demonstrated elevated interleukin-4 (IL-4) (35 pg/mL), IL-6 (1775 pg/mL), IL-8 (10 816 pg/mL), IL-10 (10 pg/mL), and granulocyte–macrophage colony-stimulating factor (GM-CSF) (4 pg/mL). Clobazam was added when midazolam was being weaned, and anakinra, an IL-1 receptor antagonist, was started at 4 mg/kg/day on hospital day seven. EEG at that point showed focal epileptiform discharges in the left occipital region with continuous background and evidence of state change and reactivity.</p><p>Due to cat exposure, serum <i>B. henselae</i> titers were checked, using a pre-IVIG serum sample, and revealed a recent infection (IgM &lt; 1:20; IgG 1:8192) with no signs of lymphadenopathy or neuroretinitis. As a result, antimicrobial therapy with doxycycline and rifampin commenced on hospital day eight for a total of 14 days. Computerized tomography scans of chest, abdomen, and pelvis were unrevealing, and his serum/CSF autoimmune e","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 3","pages":"250-251"},"PeriodicalIF":0.0,"publicationDate":"2023-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20026","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41711075","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":"Repetitive mild traumatic brain injuries in children of abuse","authors":"Joshua A. Beitchman,&nbsp;Suzanne Dakil,&nbsp;Mathew Stokes","doi":"10.1002/cns3.20024","DOIUrl":"10.1002/cns3.20024","url":null,"abstract":"<p>Children experiencing violence is an unsettling reality occurring regardless of sex, gender, age, or socioeconomic status.<span>^{1, 2}</span> Each of our communities has friends, neighbors, and coworkers who are overlooked daily despite established factors helping to predict those at risk for experiencing abuse.<span>³</span> Children present in homes experiencing domestic violence are at increased risk of being harmed, with one in three children being abused.<span>⁴</span> Physical injuries may be the result of being a primary target, an unintentional bystander, or a human shield.<span>⁵</span> When forces are directed to the head and neck, abusive head trauma (AHT) and traumatic brain injury (TBI) occur, resulting in chronic, life-altering injuries. The incidence of AHT is challenging to quantify but is suspected to occur in at least 1000–1500 infants per year (in the United States), with a peak incidence in males at 1 year of life (although increased in males ages 0–9 years old).<span>⁶</span> In the most severe instances, AHT is a leading cause of morbidity and mortality in children under 5 years of age.<span>⁷</span> Yet TBIs exist on a spectrum of severity. While physical injuries such as bruises and broken limbs are often obvious and dichotomous, repetitive mild traumatic brain injuries (mTBIs) are invisible to the naked eye and may have a delayed onset of signs or symptoms. Often, debilitating symptoms are only realized if inquired about and without any evidence of external, physical injury. Furthermore, children experiencing abuse are more likely to sustain repetitive brain injuries due to prolonged exposure to the abuser. On average, survivors will experience 2–3 years of abuse before they are able to escape the inciting individual.<span>⁸</span> Survivors of child abuse thus experience a combination of repetitive mTBI, delayed diagnosis, and improper rehabilitation that increases their risk for developing debilitating cognitive, behavioral, and affective disorders. These symptoms make it challenging for children to meet developmental milestones and engage properly at home, in school, and throughout society.</p><p>Identifying patients with repetitive mTBI due to child abuse must be an initial step toward caring for all pediatric brain injuries. Recently, athletics has been among the more prominent activities discussed that place children at risk for encountering an mTBI. As a result, children participating in sports have received safeguards that have improved detection, treatment, and rehabilitation of mTBI (i.e., concussions). However, our focus on mTBI occurring in the athletic community has overlooked those experiencing mTBIs through trauma, assaults, and violence. It is estimated that TBIs in the context of domestic violence are at least 12 times higher than occupational, recreational, and accidental events.<span>⁹</span> Thus, children experien","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 2","pages":"90-95"},"PeriodicalIF":0.0,"publicationDate":"2023-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20024","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45424579","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":"Lamotrigine as an alternative treatment for paroxysmal kinesigenic dyskinesia","authors":"Heather Leduc-Pessah,&nbsp;Asif Doja","doi":"10.1002/cns3.20017","DOIUrl":"10.1002/cns3.20017","url":null,"abstract":"<p>Brief episodes of involuntary movement triggered by purposeful actions are characteristic of paroxysmal kinesigenic dyskinesia (PKD) and can interfere with daily life.<span>¹</span> Carbamazepine and oxcarbazepine are effective at reducing episodes but have teratogenic risks that limit their therapeutic potential.<span>²</span> There is limited information describing alternate sodium channel blockers as first-line therapies for PKD, and specifically there is no recommendation for the use of alternative agents for females of childbearing potential. We conducted an institutional retrospective chart review of patients with PKD seen between 2013 and 2022. Our research ethics board approved the identification of participants by diagnostic code in the electronic medical records and waived the requirement for written informed consent.</p><p>Both patients reported complete resolution of their events on lamotrigine with recurrence only with missed doses.</p><p>We propose lamotrigine as a preferred agent in females of childbearing potential. Pharmacological management of PKD is indicated for frequent, intolerable episodes that interfere with daily life. There are no clinical trials for PKD, so physicians must rely on Class IV evidence to guide management. The literature supports the use of carbamazepine and oxcarbazepine as equivalent first-line agents in the management of PKD.<span>^{1, 3-5}</span></p><p>Lamotrigine has been suggested as a second-line agent for PKD with few reports of use as a first-line agent.<span>^6-8</span> The largest cohort reported 100% attack-free rate after four weeks of lamotrigine in 18 pre-pubescent children.<span>⁶</span> Of particular importance is the evidence that carbamazepine and oxcarbazepine can cause rare but significant fetal malformations when used in females of childbearing age, whereas lamotrigine has the lowest risk of fetal malformation.<span>²</span> A recent meta-analysis found a statistically significant increase in major congenital malformations with carbamazepine monotherapy (odds ratio [OR] 1.37) and oxcarbazepine (OR 1.32 *not statistically significant) compared to lamotrigine (OR 0.96).<span>²</span></p><p>The need for an alternative agent in this population is not adequately addressed in the literature. Our experience suggests that lamotrigine is an effective agent in adolescent post-pubertal patients and may be a safe and effective option for females of childbearing potential. Further studies with larger cohorts will be required to investigate lamotrigine's efficacy and tolerability as a first-line agent for PKD and to better understand the effect of pregnancy on PKD and on lamotrigine therapy.</p><p><b>Heather Leduc-Pessah</b>: Conceptualization (supporting); methodology (lead); data curation (lead); writing—original draft (lead); writing—review and editing (equal). <b>Asif Doja</b>: Conceptualization (lead); methodology (supp","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 2","pages":"149-151"},"PeriodicalIF":0.0,"publicationDate":"2023-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20017","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46932745","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":"Developmental milestones as ACNS turns one year old","authors":"E. Steve Roach,&nbsp;Phillip L. Pearl","doi":"10.1002/cns3.20025","DOIUrl":"10.1002/cns3.20025","url":null,"abstract":"The first year of Annals of the Child Neurology Society (ACNS) has been marked by extraordinary progress, and we pause here to review and celebrate the journal's successful launch. As an official journal of the Child Neurology Society, ACNS offers a venue for clinical and translational research articles, clinically relevant basic science articles, patient reports, teaching vignettes, and quality improvement articles. It also provides a forum for discussion of important professional issues and factors that affect the care of children with neurological disease. The society maintains its traditional relationship with Annals of Neurology, with its focus on more basic research. Several years ago, the American Neurological Association created Annals of Clinical and Translational Neurology (ACTN), and the addition of ACNS by the Child Neurology Society forms an Annals “family” of journals that together support a wide range of scholarly endeavors. We have a great collaborative relationship with the editors of Annals of Neurology, and authors of manuscripts that cannot be accepted by Annals are offered consideration by ACNS or ACTN. We expect this transfer option to eventually become an important source of articles for ACNS. The first few months were spent building the journal's infrastructure. It takes considerable behind‐the‐scenes time and effort to create policies, websites, social media accounts, the editorial board, a detailed guide for authors, letter templates, and an initial reviewer database. ACNS features several innovative initiatives, including a monthly Editor's Choice article that is highlighted in an email to the society's members, a trainee mentoring program for novice writers, and ACNS Fast Track, a rapid review cycle designed to generate an initial publication decision within two weeks of submission. The first articles began to appear in December 2022. The initial ACNS articles have been remarkably good, led by a series of excellent review articles by pioneers in the field. The first article after the opening editorial was Harvey Sarnat's eloquent review of axonal pathfinding and guidance in the development of the nervous system, a basic science topic with obvious clinical relevance. Curtis Coughlin and Sidney Gospe contributed an outstanding summary of pyridoxine dependency. These authors were instrumental in unraveling the clinical features, genetics, and molecular mechanisms of pyridoxine dependency, so not surprisingly, their review is a tour de force. Nordli and Galan provide a detailed case‐based review of magnetoencephalography, a valuable tool for identifying an epileptogenic zone and for pinpointing language, motor, and visual functions in relation to a brain lesion. Fernández and Peters provide an intriguing glimpse of potential clinical uses of artificial intelligence and algorithm‐driven machine learning to process data and improve performance. The ACNS research articles have also been outstanding, although we cannot highlig","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 2","pages":"88-89"},"PeriodicalIF":0.0,"publicationDate":"2023-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20025","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41833294","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":"Raising awareness of TBC1 domain-containing kinase (TBCK) epileptic encephalopathy among Puerto Rican children","authors":"Johanna De Luca-Ramirez,&nbsp;Sofia Rosado Fernández,&nbsp;Orlando A. Torres","doi":"10.1002/cns3.20023","DOIUrl":"10.1002/cns3.20023","url":null,"abstract":"TBC1 domain‐containing kinase (TBCK) syndrome is a rare autosomal recessive genetic disorder that presents with infantile hypotonia, intellectual disability, motor impairment, and drug‐resistant epilepsy. The abnormal TBCK protein alters the mammalian target of rapamycin complex 1 (mTORC1), leading to accumulation of autophagic vesicles within fibroblasts. Thirty‐five previously reported individuals with TBCK were identified.","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 2","pages":"168-171"},"PeriodicalIF":0.0,"publicationDate":"2023-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20023","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48369810","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}