{"title":"Hand Stereotypies in Rett Syndrome.","authors":"Matheus G Ferreira, Hélio A G Teive","doi":"10.15844/pedneurbriefs-34-2","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-34-2","url":null,"abstract":"<p><p>Researchers from the Rett Syndrome Natural History Study (RNHS) present longitudinal data across the United States of America aimed to characterize hand stereotypies (HS) in this large cohort of patients with Rett syndrome.</p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"34 ","pages":"2"},"PeriodicalIF":0.0,"publicationDate":"2020-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7016207/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37687072","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":"<i>Pediatric Neurology Briefs</i>: Year in Review.","authors":"John J Millichap","doi":"10.15844/pedneurbriefs-34-1","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-34-1","url":null,"abstract":"<p><p>In 2020, the mission of <i>Pediatric Neurology Briefs</i> (PNB) remains the same: \"PNB is a continuing education service designed to expedite and facilitate the review of current scientific research and advances in child neurology and related subjects.\"</p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"34 ","pages":"1"},"PeriodicalIF":0.0,"publicationDate":"2020-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7016208/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37687071","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":"Epilepsy Surgery in Children Under Three Years of Age.","authors":"Hannah K Weiss, S Kathleen Bandt","doi":"10.15844/pedneurbriefs-33-3","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-33-3","url":null,"abstract":"<p><p>Researchers from the University Medical Centre Schleswig-Holstein, Epilepsy Centre Kork, University of Freiburg, University Children's Hospital Heidelberg, Goethe University, and University Children's Hospital Zürich conducted a study to evaluate seizure occurrence and cognitive development following epilepsy surgery in children under 3 years of age.</p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"33 ","pages":"3"},"PeriodicalIF":0.0,"publicationDate":"2019-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942548/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37534749","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}
Matias Lopez-Chacon, Amber N Buehner, Vamshi K Rao
{"title":"Spinal Muscular Atrophy Diagnosed by Newborn Screening.","authors":"Matias Lopez-Chacon, Amber N Buehner, Vamshi K Rao","doi":"10.15844/pedneurbriefs-33-5","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-33-5","url":null,"abstract":"<p><p>A panel of experts representing academic centers, family foundations and pharmaceutical industry came together to formulate a treatment algorithm for infants diagnosed via newborn screening (NBS) with Spinal muscular atrophy (SMA).</p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"33 ","pages":"5"},"PeriodicalIF":0.0,"publicationDate":"2019-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942550/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37534753","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":"<i>STXBP1</i>-Related Developmental and Epileptic Encephalopathy.","authors":"Brittani Wild, Stephen Nelson","doi":"10.15844/pedneurbriefs-33-6","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-33-6","url":null,"abstract":"Researchers from the University of Antwerp, Belgium, and numerous international collaborators report a comprehensive overview of the phenotypic and genetic spectrum of Syntaxin-binding protein 1 (STXBP1) encephalopathy.","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"33 ","pages":"6"},"PeriodicalIF":0.0,"publicationDate":"2019-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942547/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37534754","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":"<i>Pediatric Neurology Briefs</i>: Year in Review.","authors":"John J Millichap","doi":"10.15844/pedneurbriefs-33-1","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-33-1","url":null,"abstract":"<p><p>In 2019, the mission of <i>Pediatric Neurology Briefs</i> (PNB) remains the same: \"PNB is a continuing education service designed to expedite and facilitate the review of current scientific research and advances in child neurology and related subjects.\"</p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"33 ","pages":"1"},"PeriodicalIF":0.0,"publicationDate":"2019-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942549/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37534851","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 Outcomes of Infants Treated with Combination Therapy for Infantile Spasms.","authors":"Jacqueline J Wolak, Sunita N Misra","doi":"10.15844/pedneurbriefs-33-2","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-33-2","url":null,"abstract":"<p><p>Researchers at the International Collaborative Infantile Spasms Study (ICISS) conducted a study to assess the developmental and epilepsy outcomes in infants treated with combination (hormonal and vigabatrin) therapy for the diagnosis of infantile spasms.</p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"33 ","pages":"2"},"PeriodicalIF":0.0,"publicationDate":"2019-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942552/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37534853","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":"Children with Psychogenic Nonepileptic Seizures.","authors":"Aisha Gillan, Safiullah Shareef","doi":"10.15844/pedneurbriefs-33-4","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-33-4","url":null,"abstract":"<p><p>A large multicenter retrospective cohort study was conducted by researchers from the Pediatric Health Information System hospital network to determine differences in demographics, clinical characteristics, testing, treatment, and healthcare use between children aged 8-20 years with epilepsy (<i>n</i> = 13,241) and those with psychogenic nonepileptic seizures (PNES) secondary to conversion disorder (<i>n</i> = 399).</p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"33 ","pages":"4"},"PeriodicalIF":0.0,"publicationDate":"2019-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942551/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37534750","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}
Shanice Coriolan, Nimota Arikawe, Arden Moscati, Lisheng Zhou, Stephanie Dym, Seda Donmez, Adinoyi Garba, Sasha Falbaum, Zvi Loewy, Melinda Lull, Maha Saad, Jane Shtaynberg, Aniwaa Owusu Obeng
{"title":"Pharmacy students' attitudes and perceptions toward pharmacogenomics education.","authors":"Shanice Coriolan, Nimota Arikawe, Arden Moscati, Lisheng Zhou, Stephanie Dym, Seda Donmez, Adinoyi Garba, Sasha Falbaum, Zvi Loewy, Melinda Lull, Maha Saad, Jane Shtaynberg, Aniwaa Owusu Obeng","doi":"10.1093/ajhp/zxz060","DOIUrl":"10.1093/ajhp/zxz060","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate final-year pharmacy students' perceptions toward pharmacogenomics education, their attitudes on its clinical relevance, and their readiness to use such knowledge in practice.</p><p><strong>Methods: </strong>A 19-question survey was developed and modified from prior studies and was pretested on a small group of pharmacogenomics faculty and pharmacy students. The final survey was administered to 978 final-year pharmacy students in 8 school/colleges of pharmacy in New York and New Jersey between January and May 2017. The survey targeted 3 main themes: perceptions toward pharmacogenomics education, attitudes toward the clinical relevance of this education, and the students' readiness to use knowledge of pharmacogenomics in practice.</p><p><strong>Results: </strong>With a 35% response rate, the majority (81%) of the 339 student participants believed that pharmacogenomics was a useful clinical tool for pharmacists, yet only 40% felt that it had been a relevant part of their training. Almost half (46%) received only 1-3 lectures on pharmacogenomics and the majority were not ready to use it in practice. Survey results pointed toward practice-based trainings such as pharmacogenomics rotations as the most helpful in preparing students for practice.</p><p><strong>Conclusions: </strong>Final-year student pharmacists reported varying exposure to pharmacogenomics content in their pharmacy training and had positive attitudes toward the clinical relevance of the discipline, yet they expressed low confidence in their readiness to use this information in practice.</p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"7 1","pages":"836-845"},"PeriodicalIF":2.1,"publicationDate":"2019-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6523044/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89287343","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":"EEG for Diagnosis of Autism Spectrum Disorder.","authors":"Meghan O'Neill, Talia Shear","doi":"10.15844/pedneurbriefs-32-13","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-32-13","url":null,"abstract":"<p><p>Investigators from Boston University and the University of San Francisco studied whether EEG could be reliably used as an early biomarker for diagnosis of autism spectrum disorder (ASD).</p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"32 ","pages":"13"},"PeriodicalIF":0.0,"publicationDate":"2018-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.15844/pedneurbriefs-32-13","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36787743","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}
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