Journal of Pediatric Epilepsy最新文献

{"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":"32 1","pages":"0"},"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":"29 1","pages":""},"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":"26 1","pages":""},"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":"67 1","pages":""},"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":"35 1","pages":""},"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}

{"title":"Self-limited Familial Neonatal Epilepsy due to the c.1589G > A Novel Pathogenic Variant in KCNQ2 : A Family Report","authors":"Gunce Basarir, Ozge Ozer Kaya, Fatma Kusgoz, Nihal Olgac Dundar, P. Gençpınar","doi":"10.1055/s-0043-1770794","DOIUrl":"https://doi.org/10.1055/s-0043-1770794","url":null,"abstract":"Abstract Self-limited familial neonatal epilepsy is an autosomal dominant epileptic syndrome characterized by episodes of seizures occurring in the first days of life. Most patients have heterozygous mutations of KCNQ2 gene located on 20q13. A variety of clinical phenotypes have been associated with KCNQ2 mutations, making the prediction of this rare entity difficult. Herein, we report a rare KCNQ2 variant in two siblings with self-limited familial neonatal epilepsy. The siblings had tonic seizures accompanied by clonic jerks in the first few days after birth. Genetic analysis of the siblings revealed a heterozygous KCNQ2 variant: c.1589G > A; (p.Ser530Asn). The identical variant subsequently was identified in the mother. To our knowledge, this variant has not been previously reported in individuals with KCNQ2 -related disease. This is the first report that reveals c.1589G > A variant of KCNQ2 gene as a pathogenic variant in two siblings.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"165 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80396852","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":"Relationship Between Multiple Sclerosis and Spiritual Distress","authors":"H. Çaksen","doi":"10.1055/s-0043-1764149","DOIUrl":"https://doi.org/10.1055/s-0043-1764149","url":null,"abstract":"Multiple sclerosis","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"108 1","pages":"089 - 090"},"PeriodicalIF":0.2,"publicationDate":"2023-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85678821","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":"SYNGAP1 Encephalopathy Presenting with a Phenotype of Epilepsy with Eyelid Myoclonia (Jeavons Syndrome)","authors":"Wadih Baajour, Deepa Sirsi","doi":"10.1055/s-0043-1762908","DOIUrl":"https://doi.org/10.1055/s-0043-1762908","url":null,"abstract":"A 10-year-oldgirlwas evaluated for developmental delayand constipation at age 15 months and was subsequently diagnosed with intellectual disability and autism spectrum dis-order at 2 years. There was no family history of epilepsy or cognitive impairment. She had signi fi cant self-injurious behavior and aggression. Magnetic resonance imaging at age 18 months was normal. At age of 4 years, she had seizure onset with multiple daily episodesofstaringandeye fl utter.Electroencephalogram(EEG) showed eye closure induced generalized spike and wave dis-charges with associated eyelid myoclonia ( ► Video 1 ), absence seizures,andphotoparoxysmalresponse, fi ndingssuggestiveof Epilepsy with Eyelid Myoclonia (EEM). 2 Interictal EEG also showed bi-occipital spikes which could represent fragments of generalized spikes. Antiseizure medications tried included levetiracetam, topiramate, valproic acid, ethosuximide, and cannabidiol. Seizures persisted but there was a reduction of seizures with cannabidiol and ethosuximide. She was treated with clonidine and sertraline for aggression and self-injurious behavior.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"11 1","pages":"115 - 115"},"PeriodicalIF":0.2,"publicationDate":"2023-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88612243","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":"Safety and Tolerability of COVID-19 Vaccination in Adolescents and Young Adults with Epilepsy: A Multicenter Questionnaire Study","authors":"Yoshiyuki Kobayashi, N. Ishikawa, Yuichi Tateishi, Hiroki Izumo, Yuta Eguchi, Y. Fujii, H. Ono, S. Okada","doi":"10.1055/s-0043-1770363","DOIUrl":"https://doi.org/10.1055/s-0043-1770363","url":null,"abstract":"Abstract Background  Coronavirus disease 2019 (COVID-19) is caused by severe acute respiratory syndrome coronavirus 2 and was first recorded in December 2019. COVID-19 became a pandemic involving almost all countries, including Japan. We evaluated the tolerability and safety of coronavirus vaccines in terms of seizures in adolescents and young adults with epilepsy (AYAWE). Methods  We administered a questionnaire to AYAWE who visited the pediatrics departments of Hiroshima University Hospital, Hiroshima Prefectural Hospital, and Hiroshima City Funairi Citizens Hospital in January and February 2022. Tolerability and safety after immunization were assessed. Results  In total, 114 vaccinations were delivered to 57 AYAWE aged 12 to 25 years (mean, 15 ± 3.1 years). Fifty-two (91.2%) experienced more than or equal to 1 adverse event postvaccination. The most commonly reported adverse events were fever (dose 1, 33.3%; dose 2, 73.7%) and fatigue (dose 1, 24.6%; dose 2, 50.9%). The incidences of headache (5.2 vs. 21.0%, p  = 0.024), fever (33.3 vs. 73.7%, p  < 0.001), and fatigue (24.6 vs. 50.9%, p  = 0.004) differed significantly between the first and second doses. Only 5.2% of patients experienced transient seizure worsening, and only one patient reported a change in seizure semiology. Conclusion  COVID-19 vaccines were well-tolerated in our cohort. The vaccines did not affect the number or manifestations of seizures. Similar to other illnesses, vaccination for COVID-19 can be administered to AYAWE without worsening their seizures.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"1 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82354812","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":"Neonatal Status Epilepticus Secondary to Nonketotic Hyperglycinemia: Efficacy of Low-Dose Dextromethorphan","authors":"S. Vila-Bedmar, Maite La-Vega Talbott","doi":"10.1055/s-0043-1770052","DOIUrl":"https://doi.org/10.1055/s-0043-1770052","url":null,"abstract":"Abstract Nonketotic hyperglycinemia is a severe form of early onset epileptic encephalopathy caused by disturbances in the glycine cleavage system, leading to neurological damage attributed to overstimulation of the N-methyl-D-aspartate receptor. Although there are no interventions known to be effective in altering the natural history of nonketotic hyperglycinemia, it is very important that the clinician recognizes this disease and initiates early evaluation and treatment to attain the best possible outcome. Here we present a newborn diagnosed with a severe form of nonketotic hyperglycinemia with frequent myoclonic seizures, which were resistant to phenobarbital, levetiracetam, ketogenic diet, sodium benzoate, and perampanel. Dextromethorphan reduced epileptic myoclonic jerks and improved the background activity on the electroencephalogram.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"1 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90314641","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}