Dravet syndrome ds previously named severe myoclonic epilepsy of infancy smei, or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. Because the myoclonic component of this epilepsy is not always present and because some variability has been observed in the symptomatology, the name was changed to dravet syndrome in 1989. Dravet syndrome is one of the most severe epilepsy syndromes of early childhood, and it comes with very high morbidity and mortality. Ds is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures either focal or generalized, which are typically. Looking for things for your dravet family to do while at home. Dravet syndrome previously known as severe myoclonic epilepsy of infancy, smei, typically presents in the first year of life in a normal child with prolonged, febrile and afebrile, focal usually hemiclonic and generalized tonicclonic seizures.
For language access assistance, contact the ncats public. Dravet syndrome is a rare, catastrophic, lifelong form of epilepsy that begins in the first year of life with frequent andor prolonged seizures. These females usually have clusters of seizures with fever as opposed to the prolonged status epilepticus with fever that occurs in scn1a. Sep 29, 2009 dravet syndrome ds, previously known as severe myoclonic epilepsy in infancy smei, is an epileptic encephalopathy that presents with prolonged seizures in the first year of life. Dravet syndrome foundation is a nonprofit organization dedicated to aggressively raising research funds for dravet syndrome, a rare and catastrophic form of epilepsy beginning in childhood, and related conditions. Approximately, 7080% of patients with dravet syndrome have mutations in scn1a, the gene encoding the alpha. Cbdos pcnsd advisory committee briefing document 19 april 2018 meeting. Download fulltext pdf this is a sample cover image for this issue. Mar 27, 2019 dravet syndrome, previously called severe myoclonic epilepsy of infancy smei, is an epilepsy syndrome that begins in infancy or early childhood and can include a spectrum of symptoms ranging from mild to severe. Expression of a dravet syndromeassociated mutation in inhibitory neurons disrupts activity of. Overview of dravet syndrome dravet syndrome, which is also referred to as severe myoclonic epilepsy of infancy.
Zogenix to host investor conference call and webcast on. Dravet syndrome is a rare and deeply impacting condition for both the child and his family. The dravet syndrome foundation dsf conducted the largest indepth survey of parents and caregivers of patients with dravet syndrome ds to date, in order to 1 identify top concerns among. It is very difficult to treat with anticonvulsant medications. We conclude that the scn1awta1783v model is a robust research platform for the evaluation of new therapies against ds. Dravet syndrome ds, previously known as severe myoclonic epilepsy in infancy smei, is a devastating epileptic syndrome. From the data, one can see that the risk of the onset of seizures during a day that falls within 48 h after one of the three diphtheriatetanuspertussis dtp vaccinations during the first 6 months of life is 124times higher than for any of the other 177 days of these 6 months.
Dravet syndrome, previously known as severe myoclonic epilepsy of infancy smei, is a catastrophic type of epilepsy with prolonged seizures that are often triggered by hot temperatures or fever. The risk of sudep in children with dravet syndrome is estimated to be 15fold greater than other childhoodonset epilepsies, making this a major concern for families and caregivers. That is why, throughout the world, families have gathered around association to provide advice and support. Pdf fenfluramine for treatmentresistant seizures in. Dravet syndrome ds is an intractable paediatric electroclinical syndrome beginning in the first 24 months of life, with generalized or hemiconvulsive seizures initiated by fever often associated with vaccines or hyperthermia, which are often prolonged. Dravet syndrome is a rare form of childhood epilepsy but possibly more common than was previously thought. Other genes than scn1a produce the dravet syndrome phenotypes but clinical reports do not. Abstract researchers at the national hospital, queen square, great ormond street hospital, and other centers in the uk and melbourne, australia identified a series of 22 adult patients median age 39 years. Dravet syndrome is a severe form of epilepsy that is part of a group of diseases known as. Arriving at the correct epilepsy syndrome andor etiology allows better decisionmaking about treatment and improves patient care. Dravet syndrome is associated with a mutation in the scn1a gene in 8090% of cases rosander 2015.
Dravet syndrome is a devastating childhood epilepsy syndrome that, for the first time in history, has fdaapproved agents that can be given to significantly impact the seizure burden and potentially help prevent or reduce the negative impact of dravet syndrome on the quality of life for patients and their families. Approximately 75% of patients with dravet syndrome have mutations or copy number variants in scn1a. Dravet syndrome also known as severe myoclonic epilepsy of infancy is a severe form of epilepsy, which usually appears during the first year of life as feverrelated seizures. As children with dravet syndrome get older, the degree of intellectual impairment appears to correlate with the frequency of seizures. Growth and endocrine function in children with dravet syndrome. Dravet syndrome foundation feels strongly that research is our best hope for advancing treatments and eventually finding a cure for dravet syndrome and associated epilepsies. The seizures often occur with fever or illness, and are frequently initially categorized as febrile seizures. Dravet syndrome ds, previously known as severe myoclonic epilepsy in infancy smei, is an epileptic encephalopathy that presents with prolonged seizures. The diagnosis and treatment of dravet syndrome have entered a new. Put a butterfly in your window for dravet syndrome.
Patients with dravet syndrome with autism exhibit more severe mental retardation. It is now appreciated that the electroclinical features of dravet syndrome are broader than the original description and that the myoclonic seizures or generalized spike and wave are not present in all. Research is not just the responsibility of scientists and doctors. Dravet syndrome is an early childhoodonset epilepsy syndrome characterized by drugresistant seizures, frequent episodes of.
Dec 29, 2016 dravet syndrome is a severe form of epilepsy that is part of a group of diseases. Dravet, c, genton, p, belmonte, a, kaminska, a, dulac, o, et al. Around 78% of dravet syndrome patients have a genetic mutation that appears to cause the associated disease. Dravet syndrome ds is characterized by seizure onset between 4 and 8 months, with a peak at 6 months of prolonged hemiclonic or generalized seizures, most often triggered by elevated temperature. Pathophysiology explains not only epilepsy phenotype of dravet syndrome but also nonepileptic features. The typical presentation is characterized by hemiclonic or generalized clonic seizures triggered by fever during the first year of life, followed by myoclonic, absence, focal and generalized tonicclonic seizures. Dravet syndrome is a severe epileptic encephalopathy that begins in infancy with prolonged hemiclonic or tonicclonic seizures, often precipitated by fever. Studies have shown cannabis has the capability of reducing, and in some cases eliminating, seizures. Before the advent of molecular genetics, the nature of dravet syndrome remained largely obscure, and arguments in favour of either an acquired origin, such as the occurrence of dravet syndrome. Additionally, they are at significant risk of sudden. Researchers investigating the fundamental cause of dravet syndrome, a severe child hood epilepsy, have reprogrammed fibroblasts, a type of skin cell, from dravet patients and generated patientspecific neurons that could help determine new therapies or better medications for the syndrome. This is the first clinical study demonstrating autism in dravet syndrome. Dravet syndrome also known as severe myoclonic epilepsy of infancy is an intractable childhood epileptic.
Dravet syndrome ds, also known as severe myoclonic epilepsy of infancy smei, is one of the rare early childhood intractable epileptic. In addition to addressing seizures, holistic care for a patient with dravet syndrome must involve a multidisciplinary team that includes specialists in physical, occupational and speech therapy, neuropsychology, social work and physical medicine. Pdf dravet syndrome ds is one of the refractory epileptic encephalopathies 3, one of the spectra of severe. Lennoxgastaut syndrome or dravet syndrome in patients 2 years of age and older. Research highlights the prevalence and features of autism in patients with dravet syndrome are assessed.
The majority of patients with dravet syndrome exhibit some symptoms of autistic spectrum disorder. If you have problems viewing pdf files, download the latest version of adobe reader. Not all scn1a epileptic encephalopathies are dravet syndrome. Previously known as severe myoclonic epilepsy of infancy smei, it affects 1. Behavior problems and healthrelated quality of life in. It usually presents with a prolonged seizure with fever that affects one side of the body. Oct 01, 2011 dravet syndrome is a rare and severe type of epilepsy. Dravet syndrome and your social security disability case. Dravet syndrome is a debilitating epileptic encephalopathy of childhood with few treatment options available in the unit. Dravet syndrome is a debilitating epileptic encephalopathy of. Dravet syndrome is an extremely rare epilepsy syndrome. Severe myoclonic epilepsy in infancy was first described in 1978 by charlotte dravet, who observed common features. Dravet syndrome italian journal of pediatrics full text.
We report a cohort of children with dravet syndrome with reduced height and weight growth trend, as well as a subset with endocrine dysfunction evidenced by low igf1 and testosterone levels. Dravet syndrome is a type of severe epilepsy that develops during the first year of childhood and is characterized by frequent febrile seizures. A mutation in gabrb3 associated with dravet syndrome le. Dravet syndrome is a severe form of epilepsy that is part of a group of. Dravet syndrome foundation, inc dsf genetic and rare. Dravet syndrome definition of dravet syndrome by medical. When applying for social security disability benefits due to a case of dravet syndrome, it is important that your application is filed in such a way that the ssa understands how the claim qualifies for fasttrack processing under the compassionate allowances program. Sign up to receive our enewsletters, dsf grant award announcements, research updates and information on upcoming fundraising events in your area. Supported by an educational grant from gw pharma limited. Dravet syndrome is a rare, drugresistant epilepsy that begins in the first year of life in an otherwise healthy infant. Later, other seizure types appear, including myoclonic. The dravet syndrome foundation dsf conducted the largest indepth survey of parents and caregivers of patients with dravet syndrome ds to date, in order to 1. From genotype to phenotype in dravet disease sciencedirect.
Severe myoclonic epilepsy of infancy smei is a complex form of epilepsy that was first described in france in 1978. Once its done, pin the poster to your window facing outwards to show togetherness for dravet syndrome and to brighten the day for passersby. Dravet syndrome nord national organization for rare disorders. For language access assistance, contact the ncats public information officer. Dravet syndrome, previously called severe myoclonic epilepsy of infancy smei, is an epilepsy syndrome that begins in infancy or early childhood and can include a spectrum of symptoms ranging from mild to severe. Epilepsy and neuropsychiatric comorbidities in mice carrying a. Dravet syndrome ds previously named severe myoclonic epilepsy of infancy smei, or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized. Dravet syndrome is a rare and severe type of epilepsy in infants. The study showed an association between vaccination and onset of the seizures of dravet syndrome.
It is important that patients participate to whatever extent they are able. Article information, pdf download for beyond dravet syndrome. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Pdf dravet syndrome a case report from aseer, saudi arabia. Dravet syndrome is a rare and severe type of epilepsy. Language disorders in patients with dravet syndrome ds have been described from the first reports of the disease. Dravet syndrome information page national institute of.
Behavior problems in dravet syndrome ds are common and can impact the lives of patients tremendously. Emerging drugs for the treatment of dravet syndrome. Participate in research dravet syndrome foundation. Dravet syndrome foundation is a nonprofit organization dedicated to aggressively raising research funds for dravet syndrome, a rare and catastrophic form of. Dravet syndrome disease progression is relentless, profoundly disabling the patient physically, mentally, and developmentally and eroding the patients healthrelated quality of life hrqol. Dravet syndrome genetic and rare diseases information. As the disease progresses, other types of seizures such as myoclonus and status epilepticus may also be seen. Out of 500 children with epilepsy, 2 or possibly 3 children are likely to have this form of epilepsy. Dravet syndrome is an epileptic encephalopathy with a significant seizure burden, often refractory to anticonvulsant treatment. Antiepileptic drug, dravet syndrome, ketogenic diet, stiripentol. League experience with comorbid conditions, mortality, management, adaptation, and grief. Dec 28, 2018 infants with dravet syndrome appear normal at birth with most children showing signs and symptoms of this disorder during the first year of life. If you have problems viewing pdf files, download the latest version of adobe. Dravet syndrome ds is an encephalopathy with epilepsy associated with multiple neuropsychiatric comorbidities.
Most children develop varying degrees of developmental disability. Dravet syndrome ds previously named severe myoclonic epilepsy of infancy smei, or epilepsy with polymorphic seizures, is a rare. Usually there is no significant chance that other children will have dravet syndrome. Improved genetic testing including duplication, deletion, and mosaicism identification continues to increase this percentage djemie 2016. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. There is a high likelihood of recurrent status epilepticus. Dravet syndrome and genetic epilepsy with febrile seizures plus. In recent years, stiripentol and cannabidiol have been approved for the treatment of seizures in dravet syndrome, both having encouraging clinical trial and postapproval data. Comorbidities in children with dravet syndrome may involve more systems than previously reported.
Neuropsychological development in children with dravet. Dec 29, 2016 if you have problems viewing pdf files, download the latest version of adobe reader. The actual cover is not yet available at this time. Dravet syndrome foundation, inc dsf dravet syndrome foundation, inc dsf. Treatment of dravet syndrome volume 43 supplement elaine c. Dravet syndrome is a rare form of epilepsy that starts when an otherwise healthy child is a baby the condition causes a lot of seizures that are hard to control. Children with dravet syndrome can have associated short stature and growth delay.
Disorders of early language development in dravet syndrome. Our focus is on research projects that will find new treatments and improve the quality of life for those living with an ion channel epilepsy. The current study aimed to give more insight into 1 the prevalence of a wide range of specific behavior difficulties and aspects of healthrelated quality of life hrqol in patients with ds compared with the general population gp and patients with epilepsy without ds, 2 the. The international league against epilepsy ilae diagnostic manuals goal is to assist clinicians who look after people with epilepsy to diagnose the epilepsy syndrome and if possible the etiology of the epilepsy.
A small percentage of females with a dravet syndrome like phenotype have mutations in the pcdh19 gene. Disordered breathing in a mouse model of dravet syndrome elife. Dravets syndrome ds or severe myoclonic epilepsy of infancy is a rare, genetic, and infantileonset epileptic. Dsf is dedicated to funding the highest caliber research on dravet syndrome and associated epilepsies. Dravet syndrome as adult form of epileptic encephalopathy. Seizures begin in the first year of life in an otherwise typically developing infant. Dravet syndrome is among the most challenging electroclinical syndromes. Pdf dravet syndrome ds, also known as severe myoclonic epilepsy of infancy smei, is one of the rare early. At least 70% of cases are due to heterozygote lossoffunction mutations in the scn1a gene. Epilepsy severity is a robust predictor of reduced hrqol in patients with dravet syndrome. Descriptions of ds language disorders include delayed acquisition and more or less relevant language impairment, often with articulation troubles and dysphasia, without specifying their nature and mechanisms. Vaccination and dravet syndrome the lancet neurology.
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