scholarly journals Clinical Characteristics and Treatment Experience of Individuals with SCN8A Developmental and Epileptic Encephalopathy (SCN8A-DEE): Findings from an Online Caregiver Survey

2021 ◽  
Author(s):  
Alison Cutts ◽  
Hillary Savoie ◽  
Michael F Hammer ◽  
John Schreiber ◽  
Celene Grayson ◽  
...  
Keyword(s):  
Online Survey ◽  
Genetic Diagnosis ◽  
Clinical Trial Design ◽  
Epileptic Encephalopathy ◽  
Seizure Type ◽  
Epilepsy Syndrome ◽  
Channel Blockers ◽  
Intractable Seizures ◽  
Unmet Treatment Need ◽  
Survey Responses

ABSTRACT Purpose: SCN8A developmental epileptic encephalopathy (SCN8A-DEE) is a rare and severe genetic epilepsy syndrome characterized by early-onset developmental delay, cognitive impairment, and intractable seizures. Variants in the SCN8A gene are associated with a broad phenotypic spectrum and variable disease severity. A caregiver survey, solicited by the advocacy group The Cute Syndrome Foundation (TCSF), was conducted to gather information on the demographics/disease presentation, seizure history, and treatment of patients with SCN8Arelated epilepsies. Methods: A 36-question online survey was developed to obtain de-identified data from caregivers of children with SCN8A-related epilepsy. The survey included questions on genetic diagnosis, disease manifestations/comorbidities, seizure severity/type, current/prior use of antiseizure medicines (ASMs), and best/worst treatments per caregiver perception. Results: In total, 116 survey responses (87 USA, 12 Canada, 12 UK, 5 Australia) were included in the quantitative analysis. Generalized tonic/clonic was the most common seizure type at onset and time of survey; absence and partial/focal seizures were also common. Most patients (77%) were currently taking ≥2 ASMs; 50% had previously tried and stopped ≥4 ASMs. Sodium channel blockers (oxcarbazepine, phenytoin, lamotrigine) provided the best subjective seizure control and quality of life. Conclusion: The SCN8A-DEE patient population is heterogeneous and difficult to treat, with high seizure burden and multiple comorbidities. The high proportion of patients who previously tried and stopped ASMs indicates a large unmet treatment need. Further collaboration between families, caregivers, patient advocates, clinicians, researchers, and industry can increase awareness and understanding of SCN8A-related epilepsies, improve clinical trial design, and potentially improve patient outcomes.

A Case of Neonatal Epileptic Encephalopathy due to SCN2A Mutation Responsive to a Ketogenic Diet

2018 ◽  
Vol 07 (04) ◽  
pp. 148-151 ◽  
Author(s):  
Fahad A. Bashiri ◽  
Abrar Hudairi ◽  
Malak Al Ghamdi ◽  
Adel A. Mahmoud
Keyword(s):  
Ketogenic Diet ◽  
Treatment Modality ◽  
Genetic Diagnosis ◽  
Febrile Seizures ◽  
Epileptic Encephalopathy ◽  
Intractable Seizures ◽  
Ohtahara Syndrome ◽  
Newborn Girl ◽  
Generalized Epilepsy ◽  
Febrile Seizures Plus

AbstractNeonatal seizures may have multiple causes including metabolic and genetic etiologies. If a genetic diagnosis is known, it can guide the physician to choose the most appropriate treatment modality. SCN2A mutation is a rare cause of epileptic encephalopathy in the neonatal age group. It has a wide phenotypic variation, ranging from benign familial epilepsy to a malignant form of epilepsy. This mutation has been associated with Ohtahara syndrome, migrating focal seizures of infancy, West syndrome, Lennox–Gastaut syndrome, and generalized epilepsy with febrile seizures plus. We present the case of a newborn girl who presented with multiple types of seizures, starting at the age of 3 days. Our initial investigations were not able to identify the etiology of her intractable seizures. Whole exome sequencing confirmed an SCN2A mutation. Various antiepileptic drugs (AEDs), including phenobarbitone, phenytoin, levetiracetam, topiramate, vigabatrin, carbamazepine, clonazepam, and mexiletine, were tried. However, none provided an optimal response. She ultimately showed a dramatic response to the ketogenic diet (KD). This report highlights the effectiveness of the KD as a treatment modality for SCN2A mutation-related epileptic encephalopathy, particularly when seizures are intractable and unresponsive to conventional AEDs.

scholarly journals Infantile Spasms: Opportunities to Improve Care

2020 ◽  
Vol 40 (02) ◽  
pp. 236-245 ◽  
Author(s):  
Ricka Messer ◽  
Kelly G. Knupp
Keyword(s):  
Alternative Therapy ◽  
Infantile Spasm ◽  
Primary Care Providers ◽  
Epileptic Encephalopathy ◽  
Seizure Type ◽  
Epilepsy Syndrome ◽  
Care Providers ◽  
Epileptic Spasms ◽  
Challenges And Opportunities ◽  
Oral Corticosteroids

AbstractInfantile spasm (IS) is a distinct epilepsy syndrome characterized by epileptic spasms (the clinical seizure type) and hypsarrhythmia (the electrographic abnormality). IS is frequently accompanied by impaired neurodevelopment and is often associated with structural, genetic, or metabolic etiologies. Prompt treatment of this severe epileptic encephalopathy improves long-term outcomes but remains elusive in many situations. Despite common misconceptions, even patients with identified etiologies or preexisting developmental delay benefit from proven standard therapies, including adrenocorticotropic hormone (ACTH), oral corticosteroids, or vigabatrin. Treatment efficacy should be assessed with electroencephalography at 2 weeks, and an alternative therapy is indicated if epileptic spasms or hypsarrhythmia have not resolved. Collaboration with primary care providers is critical to mitigate the potentially serious adverse effects of standard treatments and also to provide developmental interventions. Although new approaches are on the horizon, addressing current challenges and opportunities now can dramatically improve patient outcomes.

scholarly journals Epilepsies in infancy

2012 ◽  
Vol 97 (11) ◽  
pp. 985-992 ◽  
Author(s):  
Shouja Alam ◽  
Andrew L Lux
Keyword(s):  
Age At Onset ◽  
Epileptic Seizures ◽  
Clinical Excellence ◽  
Later Life ◽  
Developmental State ◽  
Perinatal Period ◽  
Epileptic Encephalopathy ◽  
Seizure Type ◽  
Epilepsy Syndrome ◽  
Wide Range

To evaluate and manage epileptic seizures and other paroxysmal events in infants, it is necessary to ask five key questions: (1) Is this a type of epilepsy?; (2) What seizure type(s) are occurring?; (3) Do these seizure types, combined with factors such as age at onset and EEG features, constitute an ‘epilepsy syndrome’?; (4) What investigations do we need to do in searching for an underlying aetiology? and finally, (5) What is the prognosis for neurological and developmental state in later life?This review considers epilepsies that have an onset in infancy but after the perinatal period, outlines the commoner epilepsy syndromes occurring in this age group and describes paroxysmal events that can mimic epilepsy. Epilepsies in infancy may be the manifestation of a genetic predisposition associated with a benign course and good prognosis for neurodevelopment. In contrast, they may pose the challenging situation of ‘epileptic encephalopathy’, rare but potentially treatable metabolic conditions, or structural abnormalities with poor developmental outlook and intractable seizures. Seizures in infancy are relatively rare and there is a wide range of underlying causes, some of which require specific treatments to avoid preventable neurodevelopmental damage. Guidance from the National Institute for Health and Clinical Excellence suggests early referral of cases of infantile epilepsy to a tertiary centre.

Pediatric neurosurgery in Asia and Australasia: training and clinical practice

2021 ◽  
Vol 27 (1) ◽  
pp. 93-101
Author(s):  
Ronnie E. Baticulon ◽  
Michael C. Dewan ◽  
Nunthasiri Wittayanakorn ◽  
Philipp R. Aldana ◽  
Wirginia J. Maixner
Keyword(s):  
Clinical Practice ◽  
Online Survey ◽  
Vascular Malformations ◽  
Economic Status ◽  
Pediatric Neurosurgery ◽  
Income Group ◽  
Fellowship Training ◽  
Pediatric Epilepsy ◽  
Skill Sets ◽  
Survey Responses

OBJECTIVEThere are limited data on the pediatric neurosurgical workforce in Asia and Australasia. The training and clinical practice of pediatric neurosurgeons need to be characterized in order to identify gaps in knowledge and skills, thereby establishing a framework from which to elevate pediatric neurosurgical care in the region.METHODSAn online survey for pediatric neurosurgeons was created in REDCap (Research Electronic Database Capture), collecting demographic information and data on pediatric neurosurgical training and clinical practice. The link to answer the survey was sent to the mailing lists of the Asian Australasian Society for Pediatric Neurosurgery and the Japanese Society for Pediatric Neurosurgery, disseminated during the 2019 Asian Australasian Pediatric Neurosurgery Congress, and spread through social media. The survey was open to neurosurgeons who operated on patients ≤ 18 years old in Asian Australasian countries, whether or not they had completed fellowship training in pediatric neurosurgery. Descriptive statistics were computed and tabulated. Data were stratified and compared based on surgeon training and World Bank income group.RESULTSA total of 155 valid survey responses were analyzed, representing neurosurgeons from 21 countries. A total of 107 (69%) considered themselves pediatric neurosurgeons, of whom 66 (43%) had completed pediatric neurosurgery training. Neurosurgeons in East Asia commonly undergo a fellowship in their home countries, whereas the rest train mostly in North America, Europe, and Australia. A majority (89%) had operating privileges, and subspecialty pediatric training usually lasted from 6 months to 2 years. On average, trained pediatric neurosurgeons perform a higher number of pediatric neurosurgical operations per year compared with nonpediatric-trained respondents (131 ± 129 vs 56 ± 64 [mean ± SD], p = 0.0001). The mean number of total neurosurgical operations per year is similar for both groups (184 ± 129 vs 178 ± 142 [mean ± SD], p = 0.80). Respondents expressed the desire to train further in pediatric epilepsy, spasticity, vascular malformations, craniofacial disorders, and brain tumors.CONCLUSIONSBoth pediatric and general neurosurgeons provide neurosurgical care to children in Asia and Australasia. There is a need to increase pediatric neurosurgery fellowship programs in the region. Skill sets and training needs in pediatric neurosurgery vary depending on the country’s economic status and between pediatric-trained and nonpediatric-trained surgeons.

scholarly journals Information and genetic counselling for psychiatric risks in children with rare genomic disorders

2019 ◽  
Author(s):  
Andrew Cuthbert ◽  
Aimee Challenger ◽  
Jeremy Hall ◽  
Marianne BM van den Bree
Keyword(s):  
Genetic Counselling ◽  
Online Survey ◽  
Genomic Medicine ◽  
Genetic Diagnosis ◽  
Single Nucleotide Variants ◽  
Full Spectrum ◽  
Face To Face ◽  
Professional Information ◽  
Genomic Disorders ◽  
Psychiatric Manifestations

AbstractPurposeGenomic medicine has transformed the diagnosis of neurodevelopmental disorders. Evidence of increased psychiatric comorbidity associated with genomic copy number and single nucleotide variants (CNV and SNV) may not be fully considered when providing genetic counselling. We explored parents’ experiences of genetics services and how they obtained information concerning psychiatric manifestations.MethodsParents of children diagnosed with genomic variants completed an online survey exploring, (i) how they experienced the genetic diagnosis, and (ii) how they acquired information about psychiatric, developmental and physical manifestations.ResultsTwo-hundred and 86 respondents completed the survey. Thirty percent were unsatisfied with receiving genetic diagnoses. Satisfaction was predicted if communication was by geneticists (p = 0.004); provided face-to-face (p = 0.003); clearly explained (p < 0.001); and accompanied by support (p = 0.017). Parents obtained psychiatric information from non-professional sources more often than developmental (ϕ 0.26, p < 0.001) and physical manifestations (ϕ 0.21, p = 0.003), which mostly came from health professionals. Information from support organisations was more helpful than from geneticists (odds ratio [OR] 21.0, 95% CI 5.1 – 86.8, p < 0.001); paediatricians (OR 11.0, 1.4 – 85.2, p = 0.004); and internet sites (OR 15.5, 3.7 – 64.8, p < 0.001).ConclusionA paucity of professional information about psychiatric risks after genetic diagnosis may impede early diagnosis and intervention for children with high genotypic risks. Planned integration of genomic testing into mainstream services should include genetic counselling training to address the full spectrum of developmental, physical and psychiatric manifestations and timely provision of high-quality information.

scholarly journals A Survey of the Non-clinical Benefits of EBVM

2017 ◽  
Vol 2 (3) ◽  
Author(s):  
Sarah Hauser ◽  
Elizabeth L Jackson
Keyword(s):  
Employee Engagement ◽  
Online Survey ◽  
Client Satisfaction ◽  
Quantitative Evidence ◽  
Journal Clubs ◽  
Survey Participation ◽  
Clinical Benefits ◽  
Survey Responses ◽  
Training Opportunities ◽  
Intellectual Challenge

<p><strong>Objective: </strong>This study aims to add non-clinical benefits to the virtues for adopting Evidence-based Veterinary Medicine (EBVM). The objective is to quantify the commercial benefits of EBVM through an online survey of veterinary professionals, giving clear indications of the key areas of non-clinical benefits of EBVM. Further, the study aims to outline barriers to the wider implementation of EBVM and find preferred ways of overcoming those barriers.</p><p><strong>Background:</strong> A PICO-based literature review (Hauser and Jackson, 2016) found that while there are some papers suggesting a link between the practice of EBVM and better non-clinical benefits such as client satisfaction, a single study, focusing on the non-clinical benefits of EBVM, had yet to be conducted. This study builds on the findings of an exploratory study (Jackson and Hauser, 2017) outlining key areas of non-clinical benefits of EBVM: increased client satisfaction and retention, improved reputation, confidence, as well as employee engagement.</p><p><strong>Evidentiary value:</strong> This online survey of veterinary professionals (n=407) provides evidence for practitioners, universities and other veterinary staff regarding the non-clinical benefits of EBVM, the barriers to a wider adoption of the practice and ways of overcoming those barriers.</p><p><strong>Methods: </strong>The online survey of veterinary professionals was conducted during September – October 2016 and contained 23 questions. Survey participation was voluntary and the data used for analysis were de-identified.</p><p><strong>Results:</strong> The survey responses of 407 veterinary professionals provide quantitative evidence of how EBVM is put into practice, how EBVM is perceived to impact client behaviour and employee engagement, what the barriers are to practising EBVM and how these could be overcome. Key findings are that veterinary professionals are more likely to practise EBVM if they have been taught how to do so at vet school. EBVM is a way to provide value to and build trust with clients. Survey respondents who practise EBVM are more likely to find their workplace inspiring and to be an intellectual challenge and the main barriers to EBVM are: time and access to information. Respondents, especially those who were employees suggested overcoming these barriers through attending journal clubs and other training opportunities.</p><p><strong>Conclusion: </strong>The study provides the view of veterinary professionals on the non-clinical benefits of EBVM, the barriers to wider implementation and ways of overcoming those barriers. Further research is needed to obtain the perspective of clients and more detailed cost effectiveness analyses could shed more light on specific practices of EBVM.</p><p><strong>Application:</strong> Findings are applicable to universities, veterinarians and vet nurses seeking to increase the practice of EBVM. The ultimate beneficiaries are those vets who seek additional non-clinical reasons for the adoption of EBVM in their practice.</p><br /> <img src="https://www.veterinaryevidence.org/rcvskmod/icons/oa-icon.jpg" alt="Open Access" /> <img src="https://www.veterinaryevidence.org/rcvskmod/icons/pr-icon.jpg" alt="Peer Reviewed" />

scholarly journals Defensive medicine in neurosurgery: the Canadian experience

2016 ◽  
Vol 124 (5) ◽  
pp. 1524-1530 ◽  
Author(s):  
Timothy R. Smith ◽  
M. Maher Hulou ◽  
Sandra C. Yan ◽  
David J. Cote ◽  
Brian V. Nahed ◽  
...  
Keyword(s):  
Online Survey ◽  
Insurance Coverage ◽  
Patient Characteristics ◽  
Defensive Medicine ◽  
Published Data ◽  
Risk Environment ◽  
Malpractice Insurance ◽  
The Us ◽  
Survey Responses ◽  
The Impact

OBJECT Recent studies have examined the impact of perceived medicolegal risk and compared how this perception impacts defensive practices within the US. To date, there have been no published data on the practice of defensive medicine among neurosurgeons in Canada. METHODS An online survey containing 44 questions was sent to 170 Canadian neurosurgeons and used to measure Canadian neurosurgeons’ perception of liability risk and their practice of defensive medicine. The survey included questions on the following domains: surgeon demographics, patient characteristics, type of physician practice, surgeon liability profile, policy coverage, defensive behaviors, and perception of the liability environment. Survey responses were analyzed and summarized using counts and percentages. RESULTS A total of 75 neurosurgeons completed the survey, achieving an overall response rate of 44.1%. Over one-third (36.5%) of Canadian neurosurgeons paid less than $5000 for insurance annually. The majority (87%) of Canadian neurosurgeons felt confident with their insurance coverage, and 60% reported that they rarely felt the need to practice defensive medicine. The majority of the respondents reported that the perceived medicolegal risk environment has no bearing on their preferred practice location. Only 1 in 5 respondent Canadian neurosurgeons (21.8%) reported viewing patients as a potential lawsuit. Only 4.9% of respondents would have selected a different career based on current medicolegal risk factors, and only 4.1% view the cost of annual malpractice insurance as a major burden. CONCLUSIONS Canadian neurosurgeons perceive their medicolegal risk environment as more favorable and their patients as less likely to sue than their counterparts in the US do. Overall, Canadian neurosurgeons engage in fewer defensive medical behaviors than previously reported in the US.

scholarly journals Current practices in clinical neurofeedback with functional MRI—Analysis of a survey using the TIDieR checklist

2018 ◽  
Vol 50 ◽  
pp. 28-33 ◽  
Author(s):  
Elizabeth Randell ◽  
Rachel McNamara ◽  
Leena Subramanian ◽  
Kerenza Hood ◽  
David Linden
Keyword(s):  
Functional Mri ◽  
Online Survey ◽  
Scientific Evidence ◽  
Complex Interventions ◽  
Evidence Base ◽  
Web Based ◽  
Study Protocols ◽  
Survey Responses ◽  
Intervention Description ◽  
Standard Terms

AbstractBackgroundA core principle of creating a scientific evidence base is that results can be replicated in independent experiments and in health intervention research. The TIDieR (Template for Intervention Description and Replication) checklist has been developed to aid in summarising key items needed when reporting clinical trials and other well designed evaluations of complex interventions in order that findings can be replicated or built on reliably. Neurofeedback (NF) using functional MRI (fMRI) is a multicomponent intervention that should be considered a complex intervention. The TIDieR checklist (with minor modification to increase applicability in this context) was distributed to NF researchers as a survey of current practice in the design and conduct of clinical studies. The aim was to document practice and convergence between research groups, highlighting areas for discussion and providing a basis for recommendations for harmonisation and standardisation.MethodsThe TIDieR checklist was interpreted and expanded (21 questions) to make it applicable to neurofeedback research studies. Using the web-based Bristol Online Survey (BOS) tool, the revised checklist was disseminated to researchers in the BRAINTRAIN European research collaborative network (supported by the European Commission) and others in the fMRI-neurofeedback community.ResultsThere were 16 responses to the survey. Responses were reported under eight main headings which covered the six domains of the TIDieR checklist: What, Why, When, How, Where and Who.ConclusionsThis piece of work provides encouraging insight into the ability to be able to map neuroimaging interventions to a structured framework for reporting purposes. Regardless of the considerable variability of design components, all studies could be described in standard terms of diagnostic groups, dose/duration, targeted areas/signals, and psychological strategies and learning models. Recommendations are made which include providing detailed rationale of intervention design in study protocols.

scholarly journals Interprofessional Pharmacokinetics Simulation: Pharmacy and Nursing Students’ Perceptions

Pharmacy ◽  
2018 ◽  
Vol 6 (3) ◽  
pp. 70 ◽  
Author(s):  
Cheryl Cropp ◽  
Jennifer Beall ◽  
Ellen Buckner ◽  
Frankie Wallis ◽  
Amanda Barron
Keyword(s):  
Nursing Students ◽  
Student Perceptions ◽  
Interprofessional Education ◽  
Online Survey ◽  
Interprofessional Collaboration ◽  
Core Competencies ◽  
Hospital Setting ◽  
Pharmacy Students ◽  
Patient Centered ◽  
Survey Responses

Interprofessional practice between pharmacists and nurses can involve pharmacokinetic dosing of medications in a hospital setting. This study describes student perceptions of an interprofessional collaboration pharmacokinetics simulation on the Interprofessional Education Collaborative (IPEC) 2016 Core Competencies. The investigators developed a simulation activity for senior undergraduate nursing and second-year pharmacy students. Nursing and pharmacy students (n = 54, 91 respectively) participated in the simulation using medium-fidelity manikins. Each case represented a pharmacokinetic dosing consult (vancomycin, tobramycin, phenytoin, theophylline, or lidocaine). Nursing students completed head-to-toe assessment and pharmacy students gathered necessary information and calculated empiric and adjusted doses. Students communicated using SBAR (Situation, Background, Assessment, and Recommendation). Students participated in debrief sessions and completed an IRB-approved online survey. Themes from survey responses revealed meaningful perceptions in all IPEC competencies as well as themes of safety, advocacy, appreciation, and areas for improvement. Students reported learning effectively from the simulation experience. Few studies relate to this type of interprofessional education experience and this study begins to explore student perceptions of interprofessional education (IPE) in a health sciences clinical context through simulation. This real-world application of nursing and pharmacy interprofessional collaboration can positively affect patient-centered outcomes and safety.

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