| Dravet Syndrome and Comorbidities. 2018 Jan;60(1):8. doi: 10.1111/dmcn.13613. INTERPRETATION Patients with Dravet syndrome with the highest current seizure frequency suffer from more comorbidities and have a lower QoL. A poster presented the initial results of the BUTTERFLY observation study run by Stoke Therapeutics to understand non-seizure outcomes in Dravet syndrome. ���� JFIF � � �� �Exif MM * > b? Patients with Dravet syndrome face a 15-20% mortality rate due to SUDEP (Sudden Unexpected Death in Epilepsy), prolonged seizures, seizure-related accidents such as drowning, and infections [2,3]. HHS COVID-19 is an emerging, rapidly evolving situation. Patients with a high current seizure burden have more comorbidities and lower quality of life. r � Q Q !�Q !� z&. Dravet syndrome is a rare and lifelong form of epilepsy that begins in the first year of life with frequent and/or prolonged seizures. 2017 Mar;68:18-34.e3. 2017) This online survey of 202 caregivers measured frequencies of reported comorbidities commonly associated with Dravet syndrome. Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel. To test the hypothesis that higher seizure burden in Dravet syndrome is associated with increased comorbidities and lower quality of life (QoL) in a large cohort of patients with Dravet syndrome and their caregivers in Europe. developmental delays, comorbidities), and electroencephalographic (EEG) features. We anticipate that this will help us to better recognize and understand the needs of children and families and aid treatment planning in this severe epilepsy syndrome. 2020 Jun;61(6):1312-1314. doi: 10.1111/epi.16537. Dravet syndrome (severe myoclonic epilepsy of infancy, SMEI) is a severe chronic encephalopathy, which starts in early infancy and evolves through different stages to adulthood. Outcomes and comorbidities of SCN1A-related seizure disorders. Research for a cure offers patients and families hope for a better quality of life for their loved ones. National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error. Dravet syndrome is a genetic epilepsy syndrome characterized by medically refractory epilepsy with temperature sensitivity and developmental delay and, often, an associated mutation in the SCN1A gene. 5 0 obj
NIH What this paper adds: Heger K, Lund C, Larsen Burns M, Bjørnvold M, Sætre E, Johannessen SI, Johannessen Landmark C. Epilepsia Open. Nearly all (99.6%) patients aged 5 years or older experienced at least one or more motor, speech, learning, or behavioural impairment. Method: Dravet Syndrome: Diagnosis and Long-Term Course. Lagae L, Brambilla I, Mingorance A, Gibson E, Battersby A. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press. HRQOL in Dravet syndrome depends on a series of independent factors including seizure control, behavior, cognitive, and motor problems. It is characterized by refractory seizures, followed by stagnation of cognitive development and by the appearance of motor deficits (Dravet et al., 1982). Aledo-Serrano Á, Mingorance A, Jiménez-Huete A, Toledano R, García-Morales I, Anciones C, Gil-Nagel A. Epilepsia. The early seizures often happen when the infant has a … High seizure frequency was related to more reports of emergency treatment, comorbidities, and a lower QoL (as measured by the standardized instrument EQ-5D-5L). Epub 2017 Jun 20. Dravet syndrome is a severe form of myoclonic epilepsy in children (Dravet, Bureau, Oguni, Fukuyama, & Cokar, 2005).It is typically triggered by a fever which initiates the first generalised or partial seizure at usually 6 to 9 months of age (Dravet et al., 2005).During the first year of life, seizures are relatively infrequent but over time, can lead to status epilepticus. Oost, van Dose-Ranging Effect of Adjunctive Oral Cannabidiol vs Placebo on Convulsive Seizure Frequency in Dravet Syndrome: A Randomized Clinical Trial. But retrospective studies demonstrated that 92% (Berkovic et al. endstream
Quality of life and comorbidities associated with Dravet syndrome severity: a multinational cohort survey. Cardiovascular safety of fenfluramine in the treatment of Dravet syndrome: Analysis of an ongoing long-term open-label safety extension study. stream
Among these, Dravet syndrome (DS) has received substantial attention for both the pre-clinical and early clinical development of novel therapeutics. Is epilepsy the cause of comorbidities in Dravet syndrome? %PDF-1.7
Access to healthcare and prevalence of anxiety and depression in persons with epilepsy during the COVID-19 pandemic: A multicountry online survey. Epub 2017 Nov 10. de Lange IM, Gunning B, Sonsma ACM, van Gemert L, van Kempen M, Verbeek NE, Sinoo C, Nicolai J, Knoers NVAM, Koeleman BPC, Brilstra EH. NLM The incidence of Dravet syndrome in the United States is 1 of 20,000 and 1 of 22,000 in the Danish population.1, 2 Most genetic syndromes have several associated symptoms … A retrospective review of changes and challenges in the use of antiseizure medicines in Dravet syndrome in Norway. The survey received 584 unique responses from caregivers of paediatric (83%) and adult (17%) patients with Dravet syndrome (aged <1-48y). Epilepsia. Caregiver impact and health service use in high and low severity Dravet syndrome: A multinational cohort study. x���]o�0�������� U��U]�-[�vQ�Ȑ������0m�ڕQEHF>>�}��#�1�+P��t�:�Ϡr�����u�:ֿ��$������u>�\�]'#5l�>6z��m
��6]��5�S �?�,|Y����G!�"z���`�����"�����ټ/��#X����Tg�����aIa��t�`���%�$��N��Y���s�;ӏ�>^*+�L(���@��u��?�"�� K��Y�������I��@Q4nQ��l˼�{e���\q��xڹN�v����P#R!Ɓ 1 INTRODUCTION. Many of these mirror the comorbidities of Dravet syndrome seen in humans, including hyperactivity and stereotypical behavior, cognitive deficits, and impaired social interaction. Comorbidities Movement and Mobility Up to 80% of families of people with Dravet Syndrome report difficulties with movement and mobility including gait (walking), … Epub 2018 Dec 19. Dravet syndrome (Dravet) is a severe childhood epileptic encephalopathy. 2020 Jul 6;5(3):432-441. doi: 10.1002/epi4.12413. Parental Perception of Comorbidities in Children With Dravet Syndrome. If not diagnosed at the first instance, the majority (83%) of adults, but less than 20% of 6- to 11-year-olds were diagnosed after 4 or more years. Dravet syndrome is a rare type of lifelong genetic epileptic encephalopathy. Managing these associated conditions can improve patients’ quality of life. 4 0 obj
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Comorbidities Growth and Nutrition Concerns These cover a range of issues, including a so-called ‘failure to thrive’ (underweight, slow growth, small stature), osteopenia (poor bone density), scoliosis (curvature of the spine), and problems with eating, appetite or with the absorption of nutrients. The study goes on to describe the key findings of impacts on cognition that are generally absence in pre-school but emerge as significant by school-age. Epub 2020 May 18. 99% of caregivers reported an issue with appetite, 82% reported sleep concerns, 75% reported falls and balance concerns, and 69% reported significant concerns with the patient's attention. 2020 Nov;112:107350. doi: 10.1016/j.yebeh.2020.107350. <>
2020 Nov;61(11):2386-2395. doi: 10.1111/epi.16638. Pediatr Neurol. <>/XObject<>/Font<>/ProcSet[/PDF/Text/ImageB/ImageC/ImageI] >>/MediaBox[ 0 0 720 540] /Contents 4 0 R/Group<>/Tabs/S/StructParents 0>>
This site needs JavaScript to work properly. JAMA Neurol. While many individuals with epilepsy achieve adequate seizure control with available antiepileptic drugs (AEDs), approximately one-third of patients remain refractory to treatment (Löscher and Schmidt, 2011). endobj
2019 Jan;90:252-259. doi: 10.1016/j.yebeh.2018.09.041. 2019 Feb;65:72-79. doi: 10.1016/j.seizure.2018.12.018. Interpretation: Pediatr Neurol. Dev Med Child Neurol. Epilepsy Behav. Therefore, more effective antiepileptic treatments are needed. The survey captured about 15% of all patients with Dravet syndrome in Europe. (Knupp, et al. Comorbidities and predictors of health-related quality of life in Dravet syndrome. Van Hees S, Siewe Fodjo JN, Wijtvliet V, Van den Bergh R, Faria de Moura Villela E, da Silva CF, Weckhuysen S, Colebunders R. Epilepsy Behav. <>
Epub 2018 Dec 5. Dev Med Child Neurol. 2018;60(1):63-72. Geen. Epub 2020 Sep 10. endobj
Quality of life and comorbidities associated with Dravet syndrome severity: a multinational cohort survey. 1. Loss-of-function mutations in SCN1A cause Dravet syndrome (DS), a catastrophic childhood epilepsy in which patients experience comorbid behavioral conditions, including movement disorders, sleep abnormalities, anxiety, and intellectual disability. An extensive survey of caregivers of patients with Dravet syndrome on experiences of diagnosis, seizure burden, management, social and financial impact, and health services use was administered online in 10 languages. Aim: To test the hypothesis that higher seizure burden in Dravet syndrome is associated with increased comorbidities and lower quality of life (QoL) in a large cohort of patients with Dravet syndrome and their caregivers in Europe. Epilepsy is clinically defined by the International League Ag… 2006) of the studied patients with Dravet syndrome who had their first seizure after a vaccination carried an SCN1A mutation. 2 0 obj
Epub 2017 Feb 4. Results: Identification of specific comorbidities in Dravet syndrome will … doi: 10.1017/cjn.2016.243. endobj
doi: 10.1016/j.pediatrneurol.2017.01.025. Dravet syndrome is a rare, refractory epilepsy typically involving multiple comorbidities… Co-Morbidities in Dravet Syndrome Kelly Knupp, MD Associate Professor of Pediatrics and Neurology University of Colorado, Anschutz Campus Aurora, CO. 2017 Nov;76:60-65. doi: 10.1016/j.pediatrneurol.2017.06.008. The first signs of this syndrome are the occurrence of epileptic seizures during the first year of life in a normally developing infant (Dravet et al. Miller I, Scheffer IE, Gunning B, Sanchez-Carpintero R, Gil-Nagel A, Perry MS, Saneto RP, Checketts D, Dunayevich E, Knappertz V; GWPCARE2 Study Group. Sleeping difficulties have been shown to affect between 75% and 97% of individuals with Dravet Syndrome. Dravet syndrome: Characteristics, comorbidities, and caregiver concerns This article summarizes the various challenges patients with Dravet syndrome and their caregivers face. Dravet Syndrome is one of the most common genetic epilepsies to occur in early childhood. Sleep disturbance is one of the major co-morbidities that families living with Dravet Syndrome have to negotiate. Epub 2011 Jun 10. The disease begins with a febrile stage, characterized by febrile seizures with otherwise normal development. Seizure. The types and frequency of seizures vary but usually persist throughout the patient’s lifetime. The content of this web site is exclusively for Healthcare professionals.. By accessing and browsing this web site, I certify on my honor that I am a healthcare professional. 2020 May 1;77(5):613-621. doi: 10.1001/jamaneurol.2020.0073. This is the first comprehensive study of HRQOL in an etiologically well-defined epilepsy syndrome. �NQ g��wJ!�)0N��f�}1>�hB���H�B��^����8~��Oz�ը
2018 Jan;60(1):63-72. doi: 10.1111/dmcn.13591. Get the latest public health information from CDC: https://www.coronavirus.gov, Get the latest research information from NIH: https://www.nih.gov/coronavirus, Find NCBI SARS-CoV-2 literature, sequence, and clinical content: https://www.ncbi.nlm.nih.gov/sars-cov-2/. Would you like email updates of new search results? Genetic epilepsies and COVID-19 pandemic: Lessons from the caregiver perspective. Dravet Syndrome is a clinical diagnosis, based on recognition of seizure types, the clinical course of the condition (e.g. 6 0 obj
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Dev Med Child Neurol. The term dysautonomia covers a range of Issues including problems with temperature regulation, decreased sweating, fast heart rate (tachycardia), low blood pressure, fainting and dizziness, and sluggish digestion and blood circulation. Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the alteration and the condition. Despite broadly following current treatment guidance, less than 10% of patients were seizure free in the previous 3 months. Cannabidiol is an approved anticonvulsive drug in the United States and Europe for seizures associated with Dravet syndrome in patients 2 years of age and older. Geen; Fenfluramine valt buiten de afbakening van de richtlijn. Dravet syndrome has sometimes been mistakenly identified as a “vaccine encephalopathy” because the initial seizures appeared soon after a vaccination. zichtbare functie bij stichting Dravetsyndroom (voorzitter) en bij Dravet syndrome European Federation (vicevoorzitter) zoon neemt deel aan open label studie fenfluramine te Antwerpen. Background and purpose: Dravet syndrome is a severe, genetic form of paediatric epilepsy associated with premature mortality and co-morbidities such as anxiety, depression, autism, motor dysfunction and memory deficits. Patients with Dravet syndrome with the highest current seizure frequency suffer from more comorbidities and have a lower QoL. Can J Neurol Sci. Less than 10% of patients had current seizure freedom. These may include autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), dysautonomia, low bone density, a curvature of the spine, loss of voluntary muscle coordination, excessive muscle tone, spasticity, and slow growth. <>/Metadata 1279 0 R/ViewerPreferences 1280 0 R>>
... DS featuring inactivation of SCN1A (including zebrafish and mice) with an emphasis on seizure phenotypes and behavioral comorbidities. <>
Dravet syndrome often occurs with comorbidities, or other conditions that occur alongside the primary disease. eCollection 2020 Sep. Lai WW, Galer BS, Wong PC, Farfel G, Pringsheim M, Keane MG, Agarwal A. Epilepsia. Clipboard, Search History, and several other advanced features are temporarily unavailable. With epilepsy being one of the most common chronic neurological diseases worldwide and affecting almost 3 million people in the USA alone, there is a substantial unmet need to identify new AEDs for these refractory epilepsies (Thurman et al., 2011). Therefore, more effective antiepileptic treatments are needed. Introduction. Dravet syndrome usually occurs due to a new genetic change that occurs for the first time in a person and is not present in either parent ( de novo mutation ). Epub 2020 Aug 18. © 2017 The Authors. Aim: Please enable it to take advantage of the complete set of features! onbetaald: vicevoorzitter Dravet Syndrome European Federation. stream
Disclosures Zogenix Research funding ... Review and update several comorbidities Gait Sleep GI issues Autonomic symptoms Cognition Behavior. Dravet syndrome exhibits a range of severities in terms of seizure frequency and comorbidities, 15 and there is evidence that in addition to the SCN1A phenotype, 5 the magnitude of cognitive and behavioural impairment in Dravet syndrome is related to seizure frequency. Progression to the worsening stage features recurrent intractable seizures and the presentation of additional nonepileptic comorbidities, including global developmental delay, hyperactivity, and motor deficits. It is an analysis of an in-depth online survey posted in the DSF support group in 2016 covering comorbid health conditions, characteristics of the syndrome, and the top caregiver concerns. endobj
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2011 Aug;52(8):1476-82. doi: 10.1111/j.1528-1167.2011.03129.x. Wirrell EC, Laux L, Donner E, Jette N, Knupp K, Meskis MA, Miller I, Sullivan J, Welborn M, Berg AT. Lagae L, Brambilla I, Mingorance A, Gibson E, Battersby A. | ��Ļ}����x�p���(A���������m�{��=��b>�,O�L#c).P8�x�4~��:��ej���>�t]�6�+ACmg,��A�.�+�r ��d5���u��u;��B9RlD���7�%]�HÓ4Q�J�B���ߠ���1�Mgv�?^]@ܑ��:]�W}n�7����w��H In this study our aim was to describe the comorbidities and disease‐related predictors for HRQOL in Dravet syndrome, an epileptic encephalopathy, with defined genetic etiology. By febrile seizures with otherwise normal development 3 ):432-441. doi:.! Is the first comprehensive study of HRQOL in an etiologically well-defined epilepsy syndrome ) the! Throughout the patient ’ s lifetime run by Stoke Therapeutics to understand non-seizure in... 11 ):2386-2395. doi: 10.1111/epi.16537 HRQOL in Dravet syndrome with a high current seizure freedom predictors health-related... 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