Seizures begin in the first year of life in an otherwise typically developing infant. Dravet syndrome is a rare form of childhood epilepsy but possibly more common than was previously thought. How dravet syndrome became a model for studying childhood. Dsf is dedicated to funding the highest caliber research on dravet syndrome and associated epilepsies. The condition appears during the first year of life as frequent feverrelated febrile seizures. Chief of the european journal of paediatric neurology. What is the life expectancy of someone with dravet syndrome. Anticonvulsants, also known as antiepileptics, are typically used to treat seizures how anticonvulsants work.
The dravet syndrome foundation, inc, a nonprofit organization, offers information and support resources for dravet syndrome the national institute of neurological disorders and stroke ninds collects and disseminates research information related to neurological disorders. 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 definition of dravet syndrome by medical. Dravet syndrome is incurable and has a significant impact on the development of affected children. The majority of patients with dravet syndrome exhibit some symptoms of autistic spectrum disorder. Summary objective dravet syndrome ds is a severe developmental and. As the disease progresses, other types of seizures such as myoclonus and status epilepticus may also be seen. Time spent difficulty performing caregiver tasks caregiver healthrelated quality of life qol caregiver workrelated productivityactivity impairment. At least 70% of cases are due to heterozygote lossoffunction mutations in the scn1a gene. Lennoxgastaut syndrome or dravet syndrome in patients 2 years of age and older. Mutations in the alpha1 subunit of the voltagegated sodium channel scn1a gene are identified in 70 to 80. Dravet syndrome is an infantile epilepsy syndrome with intractable pleomorphic seizures, cognitive impairment, and a number of comorbidities including ataxiagait abnormalities and behavioral issues. In the classification of ilae severe myoclonic epilepsy of infancy smei is included among epilepsies and syndromes undetermined as generalized or focal.
Dravet syndrome italian journal of pediatrics full text. Sep 08, 2009 dravet syndrome ds was named after charlotte dravet who described this condition for the first time in 1978 as severe myoclonic epilepsy, sme in a group of intractable epilepsy. The brain is made up of billions of neurons that are constantly firing electrical signals, allowing information to be relayed from one part of the brain. However, the early clinical presentation of dravet syndrome is unique, with the onset of recurrent, convulsive seizures, which are often prolonged. Clinical presentation the typical presentation occurs during the first six months to. Dravet syndrome nord national organization for rare. Dravet syndrome is among the most challenging electroclinical syndromes. Dravet syndrome ds, also known as severe myoclonic epilepsy of infancy smei. Dravet syndrome is a rare, catastrophic, lifelong form of epilepsy that begins in the first year of life with frequent andor prolonged seizures. Mar 10, 2016 dravet syndrome ds is an intractable pediatric epilepsy syndrome, starting in early childhood. Statistics of dravet syndrome 1 people with dravet syndrome have taken the sf36 survey. Dravet syndrome is a severe form of epilepsy that is part of a group of diseases known as scn1arelated seizure disorders. The name was later changed to honor the doctor who discovered it.
Here you can find useful information and get practical support in navigating the day to day challenges of living with dravet syndrome. I would like to comment on the fascinating description by myers and scheffer1 of a 20yearold man with dravet syndrome whose photosensitivity. 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. Most cases are due to a mutation in the scn1a gene.
Click on the link to view information on this topic. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. 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. 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. 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. If you like obscure names, the condition used to be known as the severe myoclonic or. Summary dravet syndrome was described in 1978 by dravet 1978 under the. Pdf cognitive characterization of children with dravet syndrome. Here you can find useful information and get practical support in navigating the day to. 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. Studies have shown cannabis has the capability of reducing, and in some cases eliminating, seizures.
Pronunciation of dravet syndrome with 1 audio pronunciation, 1 meaning, 5 translations and more for dravet syndrome. The brain is made up of billions of neurons that are constantly firing. It usually presents with a prolonged seizure with fever that affects one side of the body. Dravet syndrome is an extremely rare epilepsy syndrome. Mutations of the scn1a gene cause up to 80% of diagnosed cases of ds.
Patients with dravet syndrome with autism exhibit more severe mental retardation. Research highlights the prevalence and features of autism in patients with dravet syndrome are assessed. Previously known as severe myoclonic epilepsy of infancy smei, it affects 1. Dravet syndrome ds, previously known as severe myoclonic. Optimizing the diagnosis and management of dravet syndrome. Dravet syndrome, first identified by french psychiatrist and epileptologist charlotte dravet over 30 years ago, is severe pediatric epilepsy. Dravet syndrome is a rare and severe type of epilepsy. As for any other chronic condition, the primary goal is to ensure the best life quality for patients and their families. 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. Out of 500 children with epilepsy, 2 or possibly 3 children are likely to have this form of epilepsy. On june 23rd and throughout the month of june, we encourage you. Additionally, they are at significant risk of sudden unexplained death.
According to the nih, a person with the syndrome dravet has 85 % chance of surviving to adulthood. It begins in the first year of life in an otherwise healthy infant, and it is lifelong. Dravet syndrome, previously known as severe myoclonic epilepsy of infancy smei, is a rare form of epilepsy usually presenting in the first 12 years of life. Charlotte dravet who first described the condition in 1978. Improved genetic testing including duplication, deletion, and mosaicism identification continues to increase this percentage djemie 2016. This is the first clinical study demonstrating autism in dravet syndrome. All seizure types are resistant to antiepileptic drugs. This disorder typically manifests with febrile status epilepticus, and progresses to a multifocal epilepsy with febrile and nonfebrile seizures with encephalopathy. Dravet syndrome ds, previously known as severe myoclonic epilepsy in infancy smei, is a devastating epileptic syndrome. Survey emailed to caregivers of children with dravet syndrome at single institution electronic survey administered through redcap assessed the following domains.
Severe myoclonic epilepsy in infancy was first described in 1978 by charlotte dravet, who observed common features. Dravet syndrome, also known as severe myoclonic epilepsy of infancy smei, is a rare and catastrophic form of epilepsy for which there is currently no cure. Ds was first described by charlotte dravet in 1978 and was found to have a genetic basis in 2001, with discovery of. 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. Dravet syndrome ds, previously known as severe myoclonic epilepsy in. Dravet syndrome is a genetic condition that develops during infancy, resulting in prolonged and frequent seizures. If you have problems viewing pdf files, download the latest version of adobe reader. 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. As children with dravet syndrome get older, the degree of intellectual impairment appears to correlate with the frequency of seizures. 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. 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. There is a high likelihood of recurrent status epilepticus. Dravet syndrome ds is a rare, genetic epileptic encephalopathy dysfunction of the brain with onset during the first year of life. Dec 29, 2016 the dravet syndrome foundation, inc, a nonprofit organization, offers information and support resources for dravet syndrome the national institute of neurological disorders and stroke ninds collects and disseminates research information related to neurological disorders.
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. Dec 29, 2016 dravet syndrome is a severe form of epilepsy that is part of a group of diseases known as scn1arelated seizure disorders. Most children develop varying degrees of developmental disability. Arriving at the correct epilepsy syndrome andor etiology allows better decisionmaking about treatment and improves patient care. Dravet syndrome awareness day june 23 public group. In 1989, the revised classification of the international league against epilepsy placed this syndrome under epilepsies and syndromes undetermined as to whether they are focal or generalized, since the syndrome shows both generalized and localized seizure types and eeg paroxysms. Mar 15, 2016 dravet syndrome, first identified by french psychiatrist and epileptologist charlotte dravet over 30 years ago, is severe pediatric epilepsy. For language access assistance, contact the ncats public information officer. Severe myoclonic epilepsy in infancy smei was described by dravet in 1978 dravet 1978.
Dravet syndrome ds is an intractable pediatric epilepsy syndrome, starting in early childhood. Selfinduction in photosensitive children with dravet syndrome. Dravet syndrome epilepsy disorders causing seizures. Dravet syndrome is associated with a mutation in the scn1a gene in 8090% of cases rosander 2015. The life expectancy of people who suffer from syndrome of dravet is uncertain. The syndrome was first described in 1982 by a french doctor named charlotte dravet and was initially named severe myoclonic epilepsy of infancy. Pdf dravet syndrome ds is an epileptic encephalopathy that presents with. Children with dravet syndrome initially show focal confined to one area or generalized throughout the brain convulsive seizures. We are dedicated to improving the lives of those affected by dravet syndrome through support, education and medical research. Dravet syndrome and the challenges of pediatric epilepsy. Dravet syndrome is a severe form of epilepsy that begins in infancy. 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. Dravet syndrome is a rare genetic dysfunction of the brain epileptic encephalopathy. Anticonvulsants, also known as antiepileptics, are typically used to treat seizures.
Pdf dravet syndrome a case report from aseer, saudi arabia. Welcome to the area of the dsuk website that is dedicated to families. Frequently referred to as a sodium channelopathy, this intractable epilepsy is characterized by unilateral onesided clonic or tonic clonic. It is very difficult to treat with anticonvulsant medications. Dravet syndrome is a rare, drugresistant epilepsy that begins in the first year of life in an otherwise healthy infant.
The progressive and unpredictable course of dravet syndrome can cause extreme anxiety for the families of affected children. Dravet syndrome is considered one of the refractory epileptic encephalopathies, with polymorphic seizures and variable outcome which is more or less patient dependent 1. Dravet syndrome is a severe form of epilepsy that is part of a group of diseases known as. Dravet syndrome as adult form of epileptic encephalopathy. Dravet syndrome ds was named after charlotte dravet who described this condition for the first time in 1978 as severe myoclonic epilepsy sme, in a group of intractable epilepsy. Dravet syndrome, first identified by french psychiatrist and epileptologist charlotte dravet more than 30 years ago, is a severe paediatric epilepsy. In 1978, charlotte dravet first described dravet syndrome, and it was found to have a genetic basis in 2001. The core dravet syndrome phenotype dravet 2011 epilepsia. Total score ranges from 0 to 3,600 being 0 the worst and 3,600 the best. Dravet syndrome nord national organization for rare disorders.
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. Severe myoclonic epilepsy in infancy, or dravet syndrome, is a. Dravet organizations around the world plan to celebrate the day with unique fundraising and awareness events. Recent studies carried out with three series of patients were surviving more than twenty years and the number of crises was reduced with age. Dravet syndrome is a type of severe epilepsy that develops during the first year of childhood and is characterized by frequent febrile seizures. Dravet syndrome classically features febrile and afebrile, generalized and unilateral, clonic or tonicclonic seizures, that occur in the first year of life in an otherwise normal infant and are later associated with myoclonus, atypical absences, and partial seizures. Typically, seizure onset is in the first year of life, usually with prolonged fever. Dravet syndrome previously known as severe myoclonic epilepsy of infancy starts in early infancy and evolves through different stages to adulthood. Dravet syndrome is the eponym for a particular type of severe epilepsy that begins between the first and fifth year of life. Overview of dravet syndrome dravet syndrome, which is also referred to as severe myoclonic epilepsy of infancy.
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