Journal of the International Child Neurology Association最新文献

{"title":"Electrical Status Epilepticus in Sleep: Is this a Focal or Generalized Pattern?","authors":"Raphael R. Almeida, A. Coan, M. Guerreiro","doi":"10.17724/jicna.2020.152","DOIUrl":"https://doi.org/10.17724/jicna.2020.152","url":null,"abstract":"Objectives: To evaluate the spatial distribution of the epileptiform activity in electrical status epilepticus in sleep (ESES) and to correlate data from electroencephalograms (EEGs) with clinical and neuroimaging variables. \u0000Methods: From 2008 to 2015, 162 reports (1.01%) out of 16,000 EEGs, from 23 patients, showed ESES. We selected one representative EEG per patient. Clinical data was collected retrospectively. Neuroimaging examinations were reviewed. The EEGs were classified as generalized ESES (ESESg) and focal ESES (ESESf) according to the distribution of epileptiform discharges. \u0000Results: From the 23 patients, 5 were classified as ESESg and 18 as ESESf. In ESESf, there was a prevalence of focal epileptic discharges in the centrotemporal regions. Abnormal neuroimaging occurred in 100% of the patients with ESESg and in 38.9% of the patients with ESESf (p=0.037). Other clinical data did not show significant differences between the groups. All patients with ESESg had structural etiology, while only 39% of patients with ESESf had structural etiology and the remaining 61% potentially genetic epilepsies of the rolandic spectrum. \u0000Conclusion: ESESg occurred predominantly in patients with structural lesions, while most patients with ESESf had normal neuroimaging scans and electrical dysfunction mainly in the rolandic region. \u0000Significance: ESESg seems to occur mostly in structural epilepsies. Distinctly, ESESf occurs in epileptic syndromes within the functional spectrum of rolandic epilepsy.","PeriodicalId":240484,"journal":{"name":"Journal of the International Child Neurology Association","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115713796","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":"Expanding the phenotype of GNAO1 related movement disorders: Two cases with mild phenotypes.","authors":"Amal Abu Libdeh, Albert Chang","doi":"10.17724/jicna.2020.168","DOIUrl":"https://doi.org/10.17724/jicna.2020.168","url":null,"abstract":"Background: Pathogenic variants in the GNAO1 gene have been previously linked to severe epileptic encephalopathy, severe progressive movement disorders, developmental delay, and intellectual disability. \u0000Method: report of 2 cases. \u0000Results: we present 2 unrelated girls, an 18-year-old, and a 4.5-year-old, with mild phenotypes. While each was noted early on to have hypotonia, failure to thrive, and developmental delay, they both have made significant progress with various therapeutic interventions. Neither have had any developmental regression, seizures or choreoathetosis. \u0000Conclusion: these 2 cases further expand the phenotype spectrum of GNAO1 mutations, which is important for counseling and to help guide management plans.","PeriodicalId":240484,"journal":{"name":"Journal of the International Child Neurology Association","volume":"28 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124425109","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":"Diagnosis and Management of Ataxia-Telangiectasia in Resource-Limited Settings","authors":"N. V. Van Os, K. V. van Aerde, J. van Gaalen, P. Merkus, L. Silveira-Moriyama, T. A. Tajudin, B. V. D. van de Warrenburg, C. Weemaes, M. Dekker, M. Willemsen","doi":"10.17724/JICNA.2020.181","DOIUrl":"https://doi.org/10.17724/JICNA.2020.181","url":null,"abstract":"Ataxia-telangiectasia (A-T) is an autosomal recessive disorder linked to mutations in the ATM gene, and is characterized by neurodegeneration with an early onset cerebellar syndrome, hyperkinetic movement disorders, neuropathy, and oculocutaneous telangiectasia. Immunodeficiency, pulmonary disease, growth failure, diabetes mellitus, increased malignancy risk and hypersensitivity to ionizing radiation complicate the clinical picture. Serum alpha-fetoprotein levels are increased in patients with A-T and can therefore serve as a diagnostic marker for the disease. In resource-limited settings, diagnosis and management of patients with a rare and complex disorder such as A-T may be extremely challenging. This expert opinion-based guideline aims to give an overview of diagnosis and management of A-T in resource-limited settings, by prioritizing different options based on medical necessity, availability, and costs.","PeriodicalId":240484,"journal":{"name":"Journal of the International Child Neurology Association","volume":"606 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131425154","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":"Clinical characteristics of children with epilepsy managed at an urban hospital in Africa: a retrospective study","authors":"P. Samia, A. Barr, S. Levi, K. Donald, J. Wilmshurst, C. Newton","doi":"10.17724/jicna.2019.162","DOIUrl":"https://doi.org/10.17724/jicna.2019.162","url":null,"abstract":"Background \u0000Most children with epilepsy reside in resource-limited regions such as sub-Saharan Africa, where the majority of studies have been conducted in rural areas with limited investigations. Medical records from children with epilepsy seen at an urban hospital in Kenya were examined to provide a comprehensive description of epilepsy in children from this hospital. \u0000  \u0000Methods \u0000A retrospective observational study was conducted which involved reviewing medical records of 426 epilepsy patients (260 males and 166 females) aged 0 - 18 years, seen at Aga Khan University Hospital, Nairobi, Kenya between February 2011 and December 2014. \u0000  \u0000Results \u0000The most frequent age at presentation; documented in 29% was in infancy. Generalized seizures due to structural brain abnormalities were the most common form of epilepsy (28%). Lennox-Gastaut Syndrome was the most common electroclinical syndrome (7%). Focal seizures and focal seizures with loss of awareness were identified in 12% of the population. There were no cases of childhood absence epilepsy in this group. Brain atrophy was the most common MRI finding, occurring in a fifth of the population (20%), while cystic encephalomalacia occurred in 13%. Half (50%) of all EEG recordings performed for this cohort were abnormal. Generalized seizures due to structural brain abnormalities and Lennox-Gastaut Syndrome (LGS) were significant predictors of a treatment history of three or more AEDs. At the conclusion of the review period, 16% of the patients had not visited the clinic for more than 12 months and were considered to be lost to follow-up. \u0000  \u0000Conclusion \u0000The highest frequency of epilepsy cases was documented in children less than one year of age. Generalized seizures due to structural abnormalities and Lennox-Gastaut syndrome were the most common seizure type and syndrome. Improvement of public awareness of different types of seizures in children may increase identification of children with childhood absence epilepsy.","PeriodicalId":240484,"journal":{"name":"Journal of the International Child Neurology Association","volume":"84 11 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127980188","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":"Progressive chorea and dystonia associated with a large arteriovenous malformation","authors":"Jeffrey S. Raskin, M. Parnes, S. Lam","doi":"10.17724/jicna.2019.148","DOIUrl":"https://doi.org/10.17724/jicna.2019.148","url":null,"abstract":"A 9-year-old male with intellectual disability and epilepsy presenting with a progressive movement disorder characterized by chorea and dystonia primarily affecting the left face, arm, and leg and attributed to an arteriovenous malformation centered within the right thalamus with bilateral extension into the basal ganglia, midbrain and pons is reported.","PeriodicalId":240484,"journal":{"name":"Journal of the International Child Neurology Association","volume":"27 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129378146","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":"Pediatric neurology and epilepsy care in low-middle income countries: Importance of collaborative efforts and active involvement of local leaders.","authors":"J. Vidaurre, Dave F. Clarke, Mary C. Spiciarich, J. Beal, S. Moshé","doi":"10.17724/jicna.2018.143","DOIUrl":"https://doi.org/10.17724/jicna.2018.143","url":null,"abstract":"The lack of access to proper neurological care is a significant problem in low- to middle-income countries.The development of local training programmes, development of national programmes in collaboration with medical colleges and creation of online educational material are examples of various initiatives currently being implemented across the world.Collaborative efforts between medical societies and these local groups will be vital to the success of these initiatives, and for the improvement of access to paediatric neurology care in these underserved areas.","PeriodicalId":240484,"journal":{"name":"Journal of the International Child Neurology Association","volume":"64 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128020038","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":"Position Statement:Emerging genetic therapies for rare disorders","authors":"P. Samia, A. Kirton, R. Dale, S. Tenembaum, C. Triki, A. Hegde, R. Idro, E. Kija, J. Wilmshurst, I. Tein, H. Topaloğlu","doi":"10.17724/JICNA.2019.172","DOIUrl":"https://doi.org/10.17724/JICNA.2019.172","url":null,"abstract":"Emerging genetic therapies for rare disorders at high cost, cannot realistically address the global burden of disease. Stakeholders must develop new pathways to ensure safe, fair and sustainable provision of such therapies.","PeriodicalId":240484,"journal":{"name":"Journal of the International Child Neurology Association","volume":"222 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122402556","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":"Optic neuritis associated with chronic inflammatory demyelinating polyneuropathy in a child - a case report","authors":"N. Griffith, P. Munot, M. Pitt, K. Prise, Dorothy A. Thompson, R. Bowman","doi":"10.17724/JICNA.2019.127","DOIUrl":"https://doi.org/10.17724/JICNA.2019.127","url":null,"abstract":"Chronic inflammatory demyelinating polyneuropathy (CIDP) is an autoimmune disorder predominantly affecting the peripheral nervous system (PNS), characterised by muscle weakness and sensory disruption which may involve all four limbs[1]. CIDP affecting children is uncommon, with a large scale review in 2013 noting 143 documented cases described in the literature [2]. Central nervous system involvement has previously been described; however, optic neuropathy is an extremely rare manifestation of CIDP, with only a small number of cases previously reported (both unilateral and bilateral) in adult patients[3-5]. This report details a child who developed optic neuropathy in association with CIDP. ","PeriodicalId":240484,"journal":{"name":"Journal of the International Child Neurology Association","volume":"18 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125362553","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":"Cannabis and related products in the treatment of epilepsy","authors":"J. Cross","doi":"10.17724/JICNA.2019.149","DOIUrl":"https://doi.org/10.17724/JICNA.2019.149","url":null,"abstract":"There has been much recent heightened interest in the possible use of cannabinoid products in the treatment of complex epilepsies. Although systematic studies have now been performed and reported showing benefit of cannabidiol as Epidiolex (GW Pharma) in the treatment of Dravet and Lennox Gastaut syndromes, there remains much confusion with the role of hemp oils and other products for which there is no consistent product or evidence base for use. There is also much debate as to whether the psychoactive component, tetrahydrocannabinol is required for optimal effect, with no sound evidence base for support. The current position is that that data has been acquired for Epidiolex, and licence for use granted by the Federal Drug Administration, with data submitted to the European Medicines Authority. We await full licence and availability to enable prescription as a further therapeutic option for the complex developmental epileptic encephalopathies. ","PeriodicalId":240484,"journal":{"name":"Journal of the International Child Neurology Association","volume":"18 780 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127815481","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":"Development of a Duchenne Muscular Dystrophy registry for children in South Africa to optimize care","authors":"A. Jalloh, W. Mathiassen, Tina-Marié Wessels, A. Ndondo, J. Wilmshurst","doi":"10.17724/JICNA.2018.146","DOIUrl":"https://doi.org/10.17724/JICNA.2018.146","url":null,"abstract":"Background \u0000Duchenne Muscular Dystrophy (DMD) is the most prevalent and lethal of the inherited dystrophies.  Globally, the incidence is reported at 1 in 3500 live male births. There is currently no cure for the disease. With the possibility of gene therapy becoming available, patients who would qualify for such treatment need to be identified. Further, understanding disease expression in a population is essential to focus targeted interventions, such as corticosteroids, to ensure they are safe and effective in the local setting. By maintaining a DMD specific disease registry this information can be attained. \u0000Objective: This report describes the concept and design of the first South African DMD disease registry using Research Electronic Data Capture (REDCap)  \u0000Methods: The registry was developed using REDCap’s web-based online design, accessed through the Clinical Research Centre (CRC) in the Faculty of Health Sciences at the University of Cape Town.  Electronic case report forms were created from these clinical data using REDCap and for specific variables serial entries were possible relating to disease progression. International data standards were adopted as proposed by TREAT-NMD, a global network of registries on DMD to ensure our data is compatible with this and other international registries. \u0000Results: Retrospective data entry combined with dynamic prospective recording of data was utilized in this project. Building on an existing database, 100 confirmed DMD boys are currently eligible for inclusion into the registry. \u0000 As our registry is an on-going study, sequential analysis of accumulated data will be done going forward to review trends on our patients with DMD. \u0000  \u0000Conclusions: This report describes the concept and design of a DMD registry and the steps followed to its establishment with REDCap. The focus is to consolidate clinical and genetic information on South African patients with DMD, commencing with the local centre’s patient cohort but rolling out access to other South African centres to create a national resource, which is internationally relevant.  Ideally this template could be duplicated in the conceptualisation of disease registries for other key conditions. \u0000  \u0000  \u0000  \u0000 ","PeriodicalId":240484,"journal":{"name":"Journal of the International Child Neurology Association","volume":"52 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128779777","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}