Journal of Pediatric Epilepsy最新文献

{"title":"New-Onset Status Epilepticus in an 11-year-old Patient with Thyroid Autoimmune Dysfunction: A Case Report of Pediatric Hashimoto Encephalopathy","authors":"Aldo F. Costa, J. Fernández-Ramos, Cristina Cazorla, Eduardo López-Laso","doi":"10.1055/s-0044-1788053","DOIUrl":"https://doi.org/10.1055/s-0044-1788053","url":null,"abstract":"Hashimoto encephalopathy (HE) is a neuropsychiatric syndrome associated with positive thyroid antibodies (Ab). Its pathophysiology is still in debate and pediatric cases are considered rare. We present a case of an 11-year-old girl with new-onset refractory status epilepticus (NORSE) who presented a good initial response to corticosteroids but then required a second line of treatment with mycophenolate. In children presenting with NORSE of suspected autoimmune origin and no identification of autoimmune encephalitis traditional Ab, HE must be considered.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141669762","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Variable Phenotypes in the Same Patient with PRRT2-Associated Disorders","authors":"Mariana Loos, M. Touzon, G. Reyes, M. Juanes, Roberto H Caraballo","doi":"10.1055/s-0044-1786374","DOIUrl":"https://doi.org/10.1055/s-0044-1786374","url":null,"abstract":"Mutations in the PRRT2 gene lead to a spectrum of diseases with a common pathophysiology including self-limited (familial) infantile epilepsy and paroxysmal kinesigenic dyskinesia as well as other paroxysmal diseases involving movement and headache disorders. Atypical phenotypes, associated with episodic ataxia, epilepsy, hemiplegic migraine, developmental delay, and intellectual disability, have been reported in approximately 5% of the patients, which is probably an underestimation. Here, we present three patients with variable PRRT2 phenotypes in each patient. In the first two patients, the manifestations were characterized by episodes of nonepileptic paroxysms and focal seizures starting in the first years of life with good response to carbamazepine. One of them had no family history either of epilepsy or nonepileptic motor manifestations. The other patient simultaneously developed epileptic spasms. Neurodevelopment was normal in both. The third patient presented with early-onset focal epilepsy that was resistant to antiseizure medications and evolved to spike-wave activation in sleep associated with cognitive impairment and ataxia. In this patient, in addition to the mutation in the PRRT2 gene, a novel pathogenic SCN1A variant was identified. The distinct clinical presentations in the same patient observed in our cases confirm the broad spectrum of PRRT2-associated diseases.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140971907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Minor Neurological Dysfunction: A Comparative Study in Pediatrics with Different Types of Focal Epilepsy","authors":"Yagmur Çam, Leman Tekin-Orgun, A. Soysal-Acar, Kivilcim Gucuyener, B. Elbasan","doi":"10.1055/s-0044-1786770","DOIUrl":"https://doi.org/10.1055/s-0044-1786770","url":null,"abstract":"Epilepsy is a disorder that occurs as a result of abnormal neuronal discharges in the brain and affects approximately 1% of children. Sensorimotor function impairments that are related to minor neurological deficits may be seen even in children diagnosed with epilepsy solely. This study aims to determine the type and areas of minor neurological dysfunction (MND) in children with Self-Limited Focal Epilepsy (SeLFE) and to compare the children with Self-Limited Epilepsy with Centrotemporal Spikes (SeLECTS) and SeLFE without SeLECTS. Fifty-six children diagnosed with epilepsy (28 SeLECTS and 28 SeLFE without SeLECTS) were included in the study. Both groups consisted of 13 girls and 15 boys. The mean ages of SeLECTS and SeLFE without SeLECTS groups were 9.68 ± 1.63 and 9.32 ± 1.62, respectively. A Modified Touwen Neurological Examination was performed to determine the type and areas of MND. There were no differences between the groups regarding MND type, coordination, fine manipulation, sensory, and involuntary movement areas (p > 0.05). It should be considered that children with SeLECTS may be neurologically affected as much as children with other types of epilepsy. Long-term problems due to epilepsy may be minimized by short-term neurodevelopmental follow-ups.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140984301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Standardizing the Treatment for Pediatric Status Epilepticus: A Quality Improvement Study","authors":"Rishi Bhargava, Nicole Cobo, Gabrielle Smith, Heather Hestekin, T. Morphew, Christopher Babbitt","doi":"10.1055/s-0044-1779495","DOIUrl":"https://doi.org/10.1055/s-0044-1779495","url":null,"abstract":"Approximately 30 to 40% of children with generalized convulsive status epilepticus remain refractory to benzodiazepines. Due to inconsistences in our approach for these patients in the emergency department, we initiated a quality improvement project to standardize the treatment process.A plan, do, study, act (PDSA) format was used for the project that involved creating a treatment algorithm based on the American Epilepsy Society (AES) guidelines, educating the staff on the treatment recommendations, and then collecting clinical data. We selected time to second-line anticonvulsant therapy as our primary outcome measure. Following the implementation of the treatment algorithm and order set, we performed comparative analyses of the pre- and post-implementation cohorts.A total of 21 pre- and 36 post-implementation patients were identified. Baseline data demonstrated no difference in age or gender. Post-implementation patients received second-line therapy sooner (24 vs. 39 minutes, p = 0.001) and more post patients received second-line therapy within the AES guideline's time frame (83 vs. 52%, p = 0.012) compared with the pre-implementation patients. In a multivariable analysis, post-implementation patients had a higher likelihood of receiving second-line therapy within the AES-recommended time frame (odds ratio [OR] = 5.78; 95% confidence interval [CI]: 1.49–22.48; p = 0.011). Age, gender, intubation status, anticonvulsants given prior to emergency department (ED), and treatment by a pediatric ED specialist were not associated with increased odds of provider adherence to AES guidelines.In conclusion, a standardized approach utilizing a treatment algorithm for patients with pediatric benzodiazepine refractory status epilepticus was associated with reduced time to administration of second-line anticonvulsant therapy and better compliance with AES guidelines in a mixed pediatric and adult ED setting.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140371538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Challenges in the Treatment of Juvenile Myoclonic Epilepsy in Female Patients","authors":"Yiğithan Güzin, Sema Bozkaya-Yilmaz, Gunce Basarir, Nihal Olgac-Dundar","doi":"10.1055/s-0044-1779494","DOIUrl":"https://doi.org/10.1055/s-0044-1779494","url":null,"abstract":"","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140370831","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Principles and Practice of Neuropsychopharmacology","authors":"Carl E. Stafstrom","doi":"10.1055/s-0043-1770054","DOIUrl":"https://doi.org/10.1055/s-0043-1770054","url":null,"abstract":"This compact volume is subtitled, “A Clinical Reference for Residents, Physicians, and Biomedical Scientists.” The book not only emphasizes treatment options for psychopharmacological disorders, but also includes succinct and informative coverage of neurotransmitters, pharmacokinetic principles, and the basics of pharmacodynamics. There are also individual chapters focusing on the treatment of neurological disorders such as headache, stroke, and attention-deficit hyperactivity disorder.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135336410","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Principles and Practice of Neuropsychopharmacology","authors":"C. Stafstrom","doi":"10.1055/b000000565","DOIUrl":"https://doi.org/10.1055/b000000565","url":null,"abstract":"This compact volume is subtitled, “A Clinical Reference for Residents, Physicians, and Biomedical Scientists.” The book not only emphasizes treatment options for psychopharmacological disorders, but also includes succinct and informative coverage of neurotransmitters, pharmacokinetic principles, and the basics of pharmacodynamics. There are also individual chapters focusing on the treatment of neurological disorders such as headache, stroke, and attentiondeficit hyperactivity disorder. Of most interest to readers of this journal, the authors provide a chapter on antiseizure medications (ASMs). Aside from their use of long-expired nomenclature and seizure/epilepsy classification, the chapter on ASMs is presented at a very basic (i.e., simple) level, approximating the complexity of a beginning medical student. To the authors’ credit, in this 27-page chapter, they attempt to cover ASM mechanisms, types of seizures, and clinical summaries of five “older” ASMs and eight “newer” ASMs. Omitted for both brevity and simplicity are all of the ASMs that have been approved in the past 5 to 10 years. There is brief mention of ASMusage in pregnancy, status epilepticus, and different age populations. For any depth or detail, other references will need to be consulted. Overall, the chapter is poorly written and contains many statements that are not only erroneous but also dangerous. Among these are the assertion that phenobarbital is “commonly used in children as an antiepileptic,” that phenobarbital is “the drug of choice for epilepsy in pregnancy,” and that “once started, antiepileptic agents need to be given for a period of at least 3 years.” From the mechanism perspective, the well-established sodium channel blocker oxcarbazepine is listed as affecting potassium channels (in reality this effect is minimal if at all). There are other misconceptions as well, intermixed with numerous misspellings and grammatical errors. The figures are redundant and the text often proceeds in an illogical manner. It is unlikely that an epileptologist willfind this chapter on ASMs of much novelty or practical use, yet medical students and perhaps residents find some insights, assuming they can separate the truth from errors! On the other hand, epileptologists could well benefit from the authors’ review of other disease-related drug categories entailing medications we do not usually prescribe as they are typically prescribed by other specialists (e.g., antidepressants, antipsychotics, etc.).","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82857005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel Neuroimaging Phenotype in the Pediatric Paroxysmal Kinesigenic Dyskinesia","authors":"Rahul Sinha, Bharat Hosur, Sonali Singh, Gautam Kamila, A. Meena","doi":"10.1055/s-0043-1771518","DOIUrl":"https://doi.org/10.1055/s-0043-1771518","url":null,"abstract":"Abstract Paroxysmal kinesigenic dyskinesia (PKD) is a rare disorder characterized by recurrent attacks of hyperkinetic movements which can be isolated or associated with benign infantile seizures as part of the infantile convulsions with choreoathetosis syndrome. We present a case of hyperkinetic movement disorder in the form of choreoathetosis, ballismus, dystonia triggered by sudden movements with a past history of benign infantile convulsions in a 12-year-old girl. The contrast-enhanced brain and spine magnetic resonance imaging showed bilaterally symmetric superior cerebellar cytotoxic edema sparing the vermis with swollen cerebellar foliae. Whole-exome sequencing identified a homozygous frameshift duplication NM_145239.3(PRRT2):c.649dupC(p.Arg217Profs*8) in the PRRT2 gene. This case report highlights the frameshift duplication in the PRRT2 gene and rare neuroimaging findings which further expand the phenotypic characteristics of PKD in children.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78881744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Use of Bibliotherapy in Patients with Epilepsy","authors":"H. Çaksen","doi":"10.1055/s-0043-1767735","DOIUrl":"https://doi.org/10.1055/s-0043-1767735","url":null,"abstract":"Biblio is a combining form occurring in loanwords from Greek (bibliography). On this model, biblio is used in the formation of compound words with the meaning “book” (bibliophile), and sometimes with the meaning “Bible” (bibliolatry, on the model of idolatry).1 Bibliotherapy (also referred to as book therapy or reading therapy) uses reading materials to help solve personal problems or for psychiatric therapy. It is guidance in the solution of personal problems through directed reading.2 Bibliotherapy, as an adjunct to treating medical and psychological problems, has a long history in the library science literature.3 Bibliotherapy may benefit patients with problems of living such as dealing with life crises and transitions, parents, and children, parenting, coping with illness and disability, death and dying, lifestyle modification, sexuality, and coping with feelings.3 However, most physicians do not know bibliotherapy, and it is rarely used in clinical practices. Epilepsy is a disease characterized by an enduring predisposition to generate epileptic seizures and by the neurobiological, cognitive, psychological, and social consequences of this condition.4 Herein, we discussed the use of bibliotherapy in patients with epilepsy to attract attention to the importance of bibliotherapy in clinical practice. Using books to improve mental well-being and facilitate health promotion are concepts that have long been recognized in librarianship.5 Sadie Peterson Delaney (1889–1958) was the chief librarian of the Veterans Administration Hospital and a pioneer in her work with bibliotherapy.6 She defined bibliotherapy as, “the treatment of patients through selected reading.” Delaney’s most significant accomplishmentwas in the techniques she developed and experimented with in using library materials and activities to rehabilitate hospital patients, especially mental patients.7 Sadie Delaney conferred with doctors and psychiatrists to learn the backgrounds and problems of patients. Then based on this information, she visited patients on wards with the book cart to interest them in reading and to tell them about the special groups and clubs that met in the library.7 Several reasons have been noted for using bibliotherapy: improvingan individual’s self-awareness andself-understanding and increasing understanding and empathy for others. Bibliotherapy can also help relieve stress, provide successful coping strategies, and help an individual to be able to express both feelingsand ideasaboutaproblemordifficulty.8Whether the texts are fiction, aiming to promote relaxation and enjoyment, ornonfictionself-helpbooks, providing informationand insight to patients with long-term conditions such as depression, diabetes, or epilepsy, the social value of texts is widely appreciated.5 Pawlowska-Jaron9 also noted that bibliotherapy might be used in patients with epilepsy. Neuropsychiatric comorbidities, including depression, anxiety, psychosis, cognitive impairment, autism, and p","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78679132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Contribution of Argentine Neurologists to the Description of Infantile Epileptic Spasms Syndrome and Related Epileptic and Nonepileptic Neurological Conditions","authors":"A. Espeche, G. Valenzuela, R. Caraballo","doi":"10.1055/s-0043-1771342","DOIUrl":"https://doi.org/10.1055/s-0043-1771342","url":null,"abstract":"Abstract In the latest report of the International League against Epilepsy Task Force on Nosology and Definitions on the methodology for classification of epilepsy syndromes, the term infantile epileptic spasms syndrome (IESS) was chosen for what were previously called infantile spasms, including West syndrome and infantile epileptic spasms without hypsarrhythmia. Different Argentine groups have contributed to the description of IESS and related epileptic and nonepileptic syndromes. Here we aimed to review studies by different Argentine authors that contributed to the development of the definitions of IESS and its most important benign differential diagnosis. In 1949, Vazquez and Turner from Argentina first recognized a clinical-electroencephalographic correlate of the entity described by Dr. West defining the triad of epileptic spasms, diffuse paroxysmal cerebral dysrhythmia, and psychomotor impairment. Subsequently, in 1976 Fejerman first reported 10 neurologically normal infants with recurrent spells that resembled epileptic spasms. As neurological status, electroencephalogram (EEG), and outcomes were normal, these infants were clearly different from those with West syndrome or epileptic spasms without hypsarrhythmia. Since 2003, Caraballo et al have published different series of patients with epileptic spasms in clusters without hypsarrhythmia occurring in infancy. Before the onset of the epileptic spasms in clusters, these infants were often normal and they had focal or generalized EEG abnormalities. Publication in local journals in languages other than English may lead to the loss of important data found by colleagues from different geographic areas. Therefore, this should be followed by publication in English in peer-reviewed journals.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73386075","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}