Annals of the Child Neurology Society最新文献

{"title":"Postconcussive symptom severity, risk factors for prolonged recovery, and mental health history: Pathways of influence in a diverse pediatric sample","authors":"Laura K. Winstone-Weide,&nbsp;Kelly Gettig,&nbsp;Cynthia A. Austin","doi":"10.1002/cns3.20094","DOIUrl":"https://doi.org/10.1002/cns3.20094","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>The objective of this study was to confirm previous risk factors for concussion recovery in a diverse pediatric sample and to elucidate the pathways by which individual mental health factors influence postconcussive symptom reporting and time to clearance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Subjects between 13 and 17 years of age (<i>N</i> = 642; mean age = 15.40; 45% female) were analyzed from a prospectively completed database associated with a multidisciplinary TBI/concussion clinic in the southwest United States. Fifty-four percent of participants identified as Hispanic, 41% received medical coverage through Medicaid, and 54% were injured during participation in an organized sports team. Mediation analysis using a structural equational framework was employed to examine the significance of both direct and indirect effects from preinjury factors (e.g., prior concussions, female gender, history of migraines, anxiety, depression, attention-deficit/hyperactivity disorder [ADHD], and learning disorders) on postinjury symptom reporting (at baseline and visit 1) and time to clearance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Higher symptom reporting at baseline was significantly associated with history of anxiety, depression, ADHD, headaches, and female gender. Higher symptom reporting at visit 1 was significantly associated with baseline symptoms, female gender, and history of anxiety. Symptom scores at baseline fully accounted for the relation between history of depression and symptom scores at visit 1 and only partially accounted for the relation between history of anxiety and symptom scores at visit 1. Only history of anxiety indirectly contributed to greater days to clearance through higher symptom scores at visit 1.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>This study supports the concept that heterogenous experience following injury is influenced by preinjury factors and extends the generalizability of risk factors to a diverse sample of youth in terms of ethnicity, insurance status/type, and mechanism of injury. Anxiety and depression represent important noninjury factors that warrant considerable attention during concussion treatment and management.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 4","pages":"281-289"},"PeriodicalIF":0.0,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20094","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869065","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":"GRIN1-related epilepsy in a neonate with response to memantine and vigabatrin","authors":"Isabella Eiler,&nbsp;Hope M. Reecher,&nbsp;Katherine Carlton,&nbsp;Erwin Cabacungan,&nbsp;Susan Cohen,&nbsp;Samuel Adams,&nbsp;Jenna Jozwik,&nbsp;Avantika Singh","doi":"10.1002/cns3.20088","DOIUrl":"https://doi.org/10.1002/cns3.20088","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>A newborn with <i>GRIN1</i>-related early infantile developmental and epileptic encephalopathy (DEE) with striking pharmacoresistance is described with emphasis on potential therapy with memantine and vigabatrin.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The term neonate manifested electrographic and electroclinical seizures from the first day of life with focal tonic seizures with apnea, bradycardia, and desaturations and later developed epileptic spasms and a hyperkinetic movement disorder. Multiple antiseizure medication trials were unsuccessful. Brain magnetic resonance imaging displayed extensive malformations of cortical development.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Whole-exome sequencing demonstrated a de novo novel <i>GRIN1</i> variant (1916T &gt; G,p.Phe639Cys), which can be associated with NMDA receptor dysfunction. Gain-of-function mutation was suspected based on phenotype correlation. Seizures markedly improved after initiation of memantine, an NMDA-receptor antagonist. Memantine was complemented by the concurrent use of vigabatrin, initiated 4 days earlier due to emergence of epileptic spasms. Significant reduction in seizures facilitated discharge from neonatal intensive care unit.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p><i>GRIN1</i>-related disorders occur due to NMDA receptor dysfunction. Patients with gain-of-function <i>GRIN1</i> mutations who present with the phenotype of DEE with extensive bilateral polymicrogyria may benefit from a trial of NMDA-receptor antagonist therapy and vigabatrin. Further research is warranted to better understand this markedly pharmacoresistant condition and to investigate targeted therapies in <i>GRIN1</i> DEE.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 4","pages":"299-302"},"PeriodicalIF":0.0,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20088","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142868805","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":"Charcot-Marie-Tooth disease in children","authors":"Ezgi Saylam,&nbsp;Praveen Kumar Ramani,&nbsp;Ruthwik Duvuru,&nbsp;Brett Haley,&nbsp;Aravindhan Veerapandiyan","doi":"10.1002/cns3.20093","DOIUrl":"https://doi.org/10.1002/cns3.20093","url":null,"abstract":"<p>Charcot-Marie-Tooth (CMT) disease represents a diverse group of inherited neuropathies with a broad spectrum of symptoms. It is the most prevalent inherited neuropathy, with an estimated prevalence ranging from 9.7 to 82 cases per 100,000 individuals. Despite this, CMT comprises only 118 of 853 inherited neuropathy entries in the Online Mendelian Inheritance in Man (OMIM) database. This comprehensive review offers a thorough examination of CMT's clinical features, subtypes, genetic underpinnings, and pathomechanisms in pediatric cases. CMT typically manifests as progressively worsening muscle weakness and atrophy, primarily affecting the distal extremities. Patients may also experience foot and ankle deformities, hand atrophy, and other systemic issues. To accurately diagnose CMT, a detailed family history, comprehensive clinical evaluation, nerve conduction studies, and relevant genetic testing are essential. Importantly, establishing a differential diagnosis is crucial during evaluation to rule out other conditions with similar presentations. This review aims to provide clinicians with a valuable resource for diagnosing and managing CMT, emphasizing the need for a streamlined and standardized approach considering advancements in genetic testing and the identification of various subtypes.</p>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 4","pages":"256-268"},"PeriodicalIF":0.0,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20093","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142868424","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":"Exaggerated T-wave alternans in children with Angelman syndrome","authors":"Eleonora Tamilia,&nbsp;Navaneethakrishna Makaram,&nbsp;Georgios Ntolkeras,&nbsp;Assia Chericoni,&nbsp;Sebastian Holst,&nbsp;Joerg Hipp,&nbsp;Alexander Rotenberg","doi":"10.1002/cns3.20092","DOIUrl":"https://doi.org/10.1002/cns3.20092","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>We aimed to test whether T-wave alternans (TWA), which is a marker of susceptibility to ventricular fibrillation, is abnormal in children with Angelman syndrome (AS) compared with typically developing children (TDC), and whether it can be used as a biomarker of AS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and Methods</h3>\u0000 \u0000 <p>Using surface electrocardiogram (ECG), we calculated TWA in AS and compared it between AS and TDC (Wilcoxon rank sum test). We then performed logistic regression to test TWA ability to distinguish AS from TDC.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We observed higher TWA in AS than TDC (44 vs. 33 uV, <i>p</i> = 0.009), while heart rate did not differ (<i>p</i> = 0.26), nor its variability (<i>p</i> = 0.72). TWA values enabled discrimination between AS and TDC (<i>p</i> = 0.0008) with accuracy of 81%, positive predictive value of 72%, and negative predictive value of 100%.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Our findings suggest that ECG in children with AS contains evidence of acquired cardiac abnormality via pathologically increased TWA.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 4","pages":"308-314"},"PeriodicalIF":0.0,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20092","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142868423","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":"The use of dynamic magnetic resonance angiography in the diagnosis of rotational vertebral artery syndrome","authors":"Chrisoula Cheronis,&nbsp;Grant L. Lin,&nbsp;Andrew Silverman,&nbsp;Alexandra Johnson,&nbsp;Sarah Lee","doi":"10.1002/cns3.20091","DOIUrl":"https://doi.org/10.1002/cns3.20091","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Rotational vertebral artery (VA) syndrome represents a rare mechanical vasculopathy that can lead to vertebrobasilar insufficiency and ischemic stroke.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>We describe a 10-year-old boy with a history of chronic morning emesis who presented with acute onset dizziness, gait instability, and vomiting and was diagnosed with acute ischemic posterior circulation stroke.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Contrast-enhanced magnetic resonance angiography (MRA) of the head and neck with dynamic positioning demonstrated loss of flow-related enhancement with head tilted to the left, conferring a diagnosis of rotational VA syndrome. He started aspirin monotherapy and subsequently underwent C1 laminectomy, with both radiographic and clinical improvement on follow-up.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Dynamic contrasted-enhanced MRA imaging can serve as a noninvasive alternative to digital subtraction angiography in the diagnosis of rotational VA syndrome and should be considered in suspected cases of pediatric rotational arteriopathy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 4","pages":"303-307"},"PeriodicalIF":0.0,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20091","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142868050","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":"Isolated peripheral neuroleukemiosis mimicking Guillain-Barré syndrome in an adolescent with relapsed B-lymphoblastic leukemia","authors":"Ethan Edmondson,&nbsp;Paisley Pauli,&nbsp;Jyotinder Punia,&nbsp;Daniel G. Calame","doi":"10.1002/cns3.20095","DOIUrl":"https://doi.org/10.1002/cns3.20095","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Neuroleukemiosis, leukemic infiltration of the peripheral nervous system (PNS), is rare. Very few cases of isolated neuroleukemiosis, PNS leukemic infiltration without leukemia blasts in the blood or bone marrow, have been reported in pediatrics. Most cases have occurred in adults with acute myelogenous leukemia (AML) in remission who presented with peripheral neuropathy. We describe a pediatric patient presenting with isolated neuroleukemiosis mimicking Guillain-Barré syndrome.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patient description</h3>\u0000 \u0000 <p>A 15-year-old boy presented 1 month after IVIG treatment for Guillain-Barre syndrome with worsening ataxia and weakness. He had a past medical history of B-cell acute lymphoblastic leukemia (B-ALL) in remission for 8 years. Examination revealed distal greater than proximal weakness of the bilateral lower extremities, areflexia at the Achilles tendon, and 1+ patellar and upper extremity reflexes. Initial magnetic resonance imaging (MRI) of the brain and spine were normal, and lumbar puncture revealed increased protein with uninterpretable white count due to excessive red blood cells. Repeat MRI brain and spinal cord showed extensive enlargement of all nerve roots and enhancement of the cauda equina and portions of cranial nerve VII bilaterally. Repeat lumbar puncture with cytology revealed leukemic blast cells. Blasts were not detected in peripheral blood smear or by flow cytometry. Bone marrow biopsy was also free of blast cells, confirming the diagnosis of relapsed B-ALL restricted to the nervous system.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Neuroleukemiosis is a rare entity with typical clinical features of mono- or polyneuropathy. It most often occurs in adults in remission from AML. However, neuroleukemiosis should also be on the differential for pediatric patients in remission from ALL presenting with neuropathy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 4","pages":"315-318"},"PeriodicalIF":0.0,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20095","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142868023","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":"Altered cerebral oxygen extraction and metabolism in preterm neonates and the relationship to anemia: A noncontrast MRI study","authors":"Zixuan Lin,&nbsp;Dan Wu,&nbsp;Dengrong Jiang,&nbsp;Hanzhang Lu,&nbsp;Ying Qi","doi":"10.1002/cns3.20081","DOIUrl":"https://doi.org/10.1002/cns3.20081","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The preterm brain is susceptible to structural injuries, which may be related to an imbalance between blood supply and oxygen metabolism. However, the effect of preterm birth on cerebral oxygen metabolism and its underlying mechanism have not been fully elucidated. The present study measured cerebral oxygen extraction and metabolism using noncontrast magnetic resonance imaging (MRI) methods in preterm neonates and examined its relationship with anemia of prematurity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Fifty neonates with a gestational age of 28–42 weeks were enrolled. Cerebral oxygen extraction fraction (OEF) and cerebral metabolic rate of oxygen (CMRO₂) were measured with T₂-relaxation-under-spin-tagging (TRUST) MRI, together with cerebral blood flow (CBF).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We showed that CBF (<i>p</i> = 0.00021) and CMRO₂ (<i>p</i> &lt; 0.0001) increased with gestational age while OEF increased with postnatal age (<i>p</i> = 0.0013). Higher OEF was also associated with a higher Apgar score at birth (<i>p</i> = 0.039). Furthermore, hematocrit significantly mediates the increase of OEF with postnatal age (<i>p</i> &lt; 0.001). Structural equation modeling analysis suggested a bidirectional relationship between CBF and CMRO₂; both contributed to the changes in OEF.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>These findings demonstrated an altered cerebral oxygen metabolism in preterm brain, suggesting a potential role of MRI–based oxygenation measurement in the assessment of transfusion and intervention for preterm neonates.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 4","pages":"269-280"},"PeriodicalIF":0.0,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20081","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869180","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":"Acute onset of unilateral movements?","authors":"Devan J. Peterson,&nbsp;Olivia S. Yale,&nbsp;Janetta L. Arellano","doi":"10.1002/cns3.20089","DOIUrl":"https://doi.org/10.1002/cns3.20089","url":null,"abstract":"<p>This previously healthy neurotypical 3-year-old boy presented for frequent stereotyped episodes of left facial and arm twitching with maintained awareness. An electroencephalogram (EEG) and brain magnetic resonance imaging were normal. However, due to a high concern for focal motor seizures, he was discharged on daily levetiracetam. Six days later, he was readmitted for increased irritability and continued left hemibody movements while awake and asleep. Continuous EEG captured the episodes of concern without an EEG correlate. The evaluation for toxic, metabolic, and infectious conditions, including cerebrospinal fluid studies, was unremarkable. His agitation was concerning for an adverse effect of levetiracetam, so he was switched to lacosamide. The evaluation was broadened to include autoimmune disorders.</p><p>His agitation did not improve, and then he developed low-grade fevers with continued irritability. His left hemibody movements evolved to orofacial dyskinesia and choreoathetoid movements (Video S1). He was started on intravenous immunoglobulins and methylprednisolone for probable autoimmune etiology. He was later found to have antibodies to the NMDA receptor in the cerebrospinal fluid (titer 1:5), confirming the diagnosis of anti-<i>N</i>-methyl-<span>d</span>-aspartate (NMDA)-receptor encephalitis, consistent with his behavioral change and movement disorder.</p><p>This boy illustrates the clinical presentation of anti-NMDA encephalitis in a child presenting with stereotypical hemibody movements unresponsive to antiseizure medication. His findings highlight the importance of a comprehensive evaluation and early treatment of potential autoimmune causes of acute behavioral and motor changes without signs of infection or previous seizures.</p><p><b>Devan J. Peterson</b>: Conceptualization; investigation; supervision; visualization; writing— original draft; writing—review and editing. <b>Olivia S. Yale</b>: Conceptualization; investigation; writing—original draft; writing—review and editing. <b>Janetta L. Arellano</b>: Conceptualization; investigation; supervision; writing—original draft; writing—review and editing.</p><p>The authors declare no conflicts of interest.</p>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 4","pages":"319"},"PeriodicalIF":0.0,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20089","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869181","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":"Complex epilepsy phenotype associated with chromosome 2q24.2-q24.3 deletion involving sodium channel gene cluster","authors":"Rima Madan,&nbsp;Fiorella S. Guido,&nbsp;Nicole Brescia","doi":"10.1002/cns3.20087","DOIUrl":"https://doi.org/10.1002/cns3.20087","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The 2q24.2-24.3 chromosome region encodes sodium channel genes important in severe childhood epilepsy, notably <i>SCN1A</i> linked to Dravet syndrome (DS). However, the roles of other genes, either within the SCN cluster or in the segments proximal to it, have not been clearly delineated. The combination of ketogenic diet and fenfluramine is known to provide substantial benefits to patients with DS, but there is a paucity of literature regarding its role in other developmental and epileptic encephalopathies (DEE). This report aims to further explore clinical findings and treatment outcomes in a patient with a complex epilepsy phenotype.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Our patient's extensive diagnostic evaluation revealed 14 deleted genes within the 2q24.2-24.3 chromosome region.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The patient initially presented with clusters of focal motor seizures with apnea and cyanosis requiring intubation as well as prolonged hospitalizations for status epilepticus. He has baseline hypotonia, dysphagia, and developmental delay. He had a &gt;50% reduction in his seizures following a combination of ketogenic diet and fenfluramine. His seizures are now responsive to rescue midazolam, and he no longer has status epilepticus.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Our patient's remarkable clinical improvement suggests that this dual therapy may be beneficial in patients with DEE exhibiting pathogenic variations in this region of chromosome 2, beyond just DS.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 4","pages":"295-298"},"PeriodicalIF":0.0,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20087","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869162","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":"Witnessing abusive head trauma: Accidents show higher rates of intracranial pathologies than shaking","authors":"Chris Brook","doi":"10.1002/cns3.20084","DOIUrl":"https://doi.org/10.1002/cns3.20084","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>This study aims to determine whether intracranial injuries, such as seizures, encephalopathy, bilateral subdural hematoma (SDH), and severe bilateral retinal hemorrhage (RH), are indicators of abusive head trauma (AHT), particularly in cases involving shaking.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data comprising 54 witnessed shaking cases were drawn from two studies in the literature. Data of 100 witnessed accidents comes from the pediBIRN collaboration. Rates of intracranial injuries in cases of unconflicted witnessed accidents are compared to rates in cases of witnessed shaking and also to cases of unconflicted witnessed shaking. Unconflicted is defined as observed by an independent, unbiased witness, or by a potentially biased witness (such as partner) if reported prior to medical examinations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>When all witnessed shaking cases were considered, including potentially biased witnesses, there are higher rates of findings commonly associated with AHT in witnessed accidents than in cases of witnessed shaking, although the difference is only statistically significant for seizures and encephalopathy. When restricted to cases when the witness was unconflicted, the rates of all findings are significantly more common in accidents than in shaking.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Accidents result in more severe intracranial pathologies than shaking, aligning with biomechanical studies that have shown that impact exerts greater force on the brain than violent shaking.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 3","pages":"206-211"},"PeriodicalIF":0.0,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20084","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142320574","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}