dravet syndrome comorbidities

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. © 2017 The Authors. Geen; Fenfluramine valt buiten de afbakening van de richtlijn. Is epilepsy the cause of comorbidities in Dravet syndrome? This site needs JavaScript to work properly. endobj Comorbidities and predictors of health-related quality of life in Dravet syndrome. Dravet syndrome is a rare and lifelong form of epilepsy that begins in the first year of life with frequent and/or prolonged seizures. 3 0 obj Less than 10% of patients had current seizure freedom. Epilepsy is clinically defined by the International League Ag… 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). Aim: Many of these mirror the comorbidities of Dravet syndrome seen in humans, including hyperactivity and stereotypical behavior, cognitive deficits, and impaired social interaction. 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. Epub 2018 Dec 19. stream Heger K, Lund C, Larsen Burns M, Bjørnvold M, Sætre E, Johannessen SI, Johannessen Landmark C. Epilepsia Open. Oost, van 2020 Nov;61(11):2386-2395. doi: 10.1111/epi.16638. eCollection 2020 Sep. Lai WW, Galer BS, Wong PC, Farfel G, Pringsheim M, Keane MG, Agarwal A. Epilepsia. 5 0 obj 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/. COVID-19 is an emerging, rapidly evolving situation. Among these, Dravet syndrome (DS) has received substantial attention for both the pre-clinical and early clinical development of novel therapeutics. The early seizures often happen when the infant has a … 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 ). Results: 2018;60(1):63-72. 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. r � Q Q !�Q !� z&. Epub 2018 Dec 5. doi: 10.1016/j.pediatrneurol.2017.01.025. 2020 Jul 6;5(3):432-441. doi: 10.1002/epi4.12413. 2017 Nov;76:60-65. doi: 10.1016/j.pediatrneurol.2017.06.008. Dev Med Child Neurol. 2017) This online survey of 202 caregivers measured frequencies of reported comorbidities commonly associated with Dravet syndrome. 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. Epilepsy Behav. <> Would you like email updates of new search results? ��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 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. 1 0 obj <>/Metadata 1279 0 R/ViewerPreferences 1280 0 R>> 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. Epub 2020 Aug 18. 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. It is characterized by refractory seizures, followed by stagnation of cognitive development and by the appearance of motor deficits (Dravet et al., 1982). 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. But retrospective studies demonstrated that 92% (Berkovic et al. HHS onbetaald: vicevoorzitter Dravet Syndrome European Federation. 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. The disease begins with a febrile stage, characterized by febrile seizures with otherwise normal development. 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. Quality of life and comorbidities associated with Dravet syndrome severity: a multinational cohort survey. Managing these associated conditions can improve patients’ quality of life. 4 0 obj The types and frequency of seizures vary but usually persist throughout the patient’s lifetime. The survey received 584 unique responses from caregivers of paediatric (83%) and adult (17%) patients with Dravet syndrome (aged <1-48y). 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]. endobj Therefore, more effective antiepileptic treatments are needed. National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error. Can J Neurol Sci. 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. Caregiver impact and health service use in high and low severity Dravet syndrome: A multinational cohort study. 2011).. 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. 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. Dravet syndrome: Characteristics, comorbidities, and caregiver concerns This article summarizes the various challenges patients with Dravet syndrome and their caregivers face. 2017 Mar;68:18-34.e3. Despite broadly following current treatment guidance, less than 10% of patients were seizure free in the previous 3 months. Dose-Ranging Effect of Adjunctive Oral Cannabidiol vs Placebo on Convulsive Seizure Frequency in Dravet Syndrome: A Randomized Clinical Trial. 2018 Jan;60(1):8. doi: 10.1111/dmcn.13613. Epub 2017 Feb 4. Lagae L, Brambilla I, Mingorance A, Gibson E, Battersby A. Dravet Syndrome: Diagnosis and Long-Term Course. JAMA Neurol. 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. 2 0 obj Sleep disturbance is one of the major co-morbidities that families living with Dravet Syndrome have to negotiate. stream Pediatr Neurol. Identification of specific comorbidities in Dravet syndrome will … Epub 2020 May 18. 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. 2019 Feb;65:72-79. doi: 10.1016/j.seizure.2018.12.018. 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. NIH Dev Med Child Neurol. Please enable it to take advantage of the complete set of features! 2011 Aug;52(8):1476-82. doi: 10.1111/j.1528-1167.2011.03129.x. �NQ g��wJ!�)0N��f�}1>�hB���H�B��^����8~��Oz�ը Epub 2020 Sep 10. 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. Sleeping difficulties have been shown to affect between 75% and 97% of individuals with Dravet Syndrome. Clipboard, Search History, and several other advanced features are temporarily unavailable. USA.gov. NLM endobj Lagae L, Brambilla I, Mingorance A, Gibson E, Battersby 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). Dravet Syndrome is a clinical diagnosis, based on recognition of seizure types, the clinical course of the condition (e.g. Epub 2017 Jun 20. 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. What this paper adds: Outcomes and comorbidities of SCN1A-related seizure disorders. Disclosures Zogenix Research funding ... Review and update several comorbidities Gait Sleep GI issues Autonomic symptoms Cognition Behavior. 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. ... DS featuring inactivation of SCN1A (including zebrafish and mice) with an emphasis on seizure phenotypes and behavioral comorbidities. Dravet syndrome has sometimes been mistakenly identified as a “vaccine encephalopathy” because the initial seizures appeared soon after a vaccination.  |  (Knupp, et al. 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. %PDF-1.7 2019 Jan;90:252-259. doi: 10.1016/j.yebeh.2018.09.041. 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 2016 Jun;43 Suppl 3:S3-8. HRQOL in Dravet syndrome depends on a series of independent factors including seizure control, behavior, cognitive, and motor problems. developmental delays, comorbidities), and electroencephalographic (EEG) features. Parental Perception of Comorbidities in Children With Dravet Syndrome. 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. Epilepsia. 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. The survey captured about 15% of all patients with Dravet syndrome in Europe. Dravet syndrome is a rare type of lifelong genetic epileptic encephalopathy. 2018 Jan;60(1):63-72. doi: 10.1111/dmcn.13591. Introduction. Progression to the worsening stage features recurrent intractable seizures and the presentation of additional nonepileptic comorbidities, including global developmental delay, hyperactivity, and motor deficits. <>  |  Dravet Syndrome and Comorbidities. 1. Therefore, more effective antiepileptic treatments are needed. Epub 2011 Jun 10. Dravet syndrome (Dravet) is a severe childhood epileptic encephalopathy. Seizure. Dravet Syndrome is one of the most common genetic epilepsies to occur in early childhood. Geen. 2006) of the studied patients with Dravet syndrome who had their first seizure after a vaccination carried an SCN1A mutation. Aledo-Serrano Á, Mingorance A, Jiménez-Huete A, Toledano R, García-Morales I, Anciones C, Gil-Nagel A. Epilepsia. <> doi: 10.1017/cjn.2016.243. 2020 Nov;112:107350. doi: 10.1016/j.yebeh.2020.107350. This is the first comprehensive study of HRQOL in an etiologically well-defined epilepsy syndrome. <>/XObject<>/Font<>/ProcSet[/PDF/Text/ImageB/ImageC/ImageI] >>/MediaBox[ 0 0 720 540] /Contents 4 0 R/Group<>/Tabs/S/StructParents 0>> zichtbare functie bij stichting Dravetsyndroom (voorzitter) en bij Dravet syndrome European Federation (vicevoorzitter) zoon neemt deel aan open label studie fenfluramine te Antwerpen. 2020 Jun;61(6):1312-1314. doi: 10.1111/epi.16537. %���� 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. Interpretation: Comorbidities Movement and Mobility Up to 80% of families of people with Dravet Syndrome report difficulties with movement and mobility including gait (walking), … endstream Geen. endobj ���� JFIF � � �� �Exif MM * > b? 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. Dravet syndrome is a rare, refractory epilepsy typically involving multiple comorbidities… Dravet syndrome often occurs with comorbidities, or other conditions that occur alongside the primary disease. Pediatr Neurol. Nearly all (99.6%) patients aged 5 years or older experienced at least one or more motor, speech, learning, or behavioural impairment. Patients with Dravet syndrome with the highest current seizure frequency suffer from more comorbidities and have a lower QoL. Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel. Dev Med Child Neurol. Patients with a high current seizure burden have more comorbidities and lower quality of life.  |  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). A retrospective review of changes and challenges in the use of antiseizure medicines in Dravet syndrome in Norway. Quality of life and comorbidities associated with Dravet syndrome severity: a multinational cohort survey. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press. endobj Genetic epilepsies and COVID-19 pandemic: Lessons from the caregiver perspective. Cardiovascular safety of fenfluramine in the treatment of Dravet syndrome: Analysis of an ongoing long-term open-label safety extension study. 1 INTRODUCTION. <> 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 … Access to healthcare and prevalence of anxiety and depression in persons with epilepsy during the COVID-19 pandemic: A multicountry online survey. 2020 May 1;77(5):613-621. doi: 10.1001/jamaneurol.2020.0073. Method: 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. Co-Morbidities in Dravet Syndrome Kelly Knupp, MD Associate Professor of Pediatrics and Neurology University of Colorado, Anschutz Campus Aurora, CO. INTERPRETATION Patients with Dravet syndrome with the highest current seizure frequency suffer from more comorbidities and have a lower QoL. Research for a cure offers patients and families hope for a better quality of life for their loved ones. 6 0 obj Wirrell EC, Laux L, Donner E, Jette N, Knupp K, Meskis MA, Miller I, Sullivan J, Welborn M, Berg AT. A poster presented the initial results of the BUTTERFLY observation study run by Stoke Therapeutics to understand non-seizure outcomes in Dravet syndrome. Afbakening van de richtlijn caregivers measured frequencies of reported comorbidities commonly associated with Dravet syndrome and caregivers... Treatment of Dravet syndrome: a Randomized clinical Trial Battersby a I, Anciones C, A.... The complete set of features Management of Dravet syndrome ( Dravet ) is a rare type of genetic. 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dravet syndrome comorbidities 2021