Since 2009, the mission of dravet syndrome foundation is to aggressively raise research funds for. The condition appears during the first year of life. Dravet syndrome is a severe form of epilepsy that begins in infancy. Research highlights the prevalence and features of autism in patients with dravet syndrome are assessed. Dravet syndrome as adult form of epileptic encephalopathy. Severe myoclonic epilepsy in infancy was first described in 1978 by charlotte dravet, who observed common features. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. Dravet syndrome international league against epilepsy. Longterm evolution of epileptic encephalopathies, nikanorova m, genton p, sabers a eds, john libbey eurotext, paris 2009. 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. Total score ranges from 0 to 3,600 being 0 the worst.
Dravet syndrome is among the most challenging electroclinical syndromes. We studied a cohort of 100 consecutively recruited, unrelated patients with ds. Epileptic syndromes of the newborn and infant enrollment in butterfly, an observational study of children and adolescents ages 2 to 18 with dravet syndrome is expected in the second half of 2019. Definition of dravet syndrome new word suggestion collins. Most children develop varying degrees of developmental disability. It is a rare genetic disorder that affects an estimated 1 in every 20,00040,000 births. Individuals with dravet syndrome are often misdiagnosed with another seizure disorder such as lennox gastaut or myoclonic astatic epilepsy, or given a broad diagnosis of intractable epilepsy. Dravet syndrome ds, previously known as severe myoclonic epilepsy in.
Dravet syndrome ds is a rare epileptic and developmental encephalopathy associated with cognitive impairment and delayed development. Also called severe myoclonic epilepsy of infancy submitted by. 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. 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. As the disease progresses, other types of seizures such as myoclonus and status epilepticus may also be seen. Patients with dravet syndrome with autism exhibit more severe mental retardation. To help support families needs during the covid19 pandemic, weve launched a new online resource hub.
Dravet syndrome new word suggestion medical a very rare severe form of childhood epilepsy that starts from infancy. Dravet syndrome ds is a severe form of epilepsy characterized by frequent, prolonged seizures often triggered by high body temperature hyperthermia, developmental delay, speech. Ds is thought to be at the severe end of a spectrum of disorders associated with. The majority of patients with dravet syndrome exhibit some symptoms of autistic spectrum disorder. Unless a cure or better treatments for dravet syndrome is found, individuals with this disorder face a. Dravet syndrome ds, otherwise known as severe myoclonic epilepsy of infancy smei, is an epileptic encephalopathy presenting in the first year of life. Dravet syndrome nord national organization for rare. This is the first clinical study demonstrating autism in dravet syndrome. Dravet syndrome is the eponym for a particular type of severe epilepsy that begins between the first and fifth year of life. If you like obscure names, the condition used to be known as the severe myoclonic or. It is very difficult to treat with anticonvulsant medications. The majority of patients with dravet syndrome exhibit some symptoms of autistic. Other features such as the eeg patterns and brain imaging are also considered. Pdf dravet syndrome ds, also known as severe myoclonic epilepsy of.
Severe myoclonic epilepsy in infancy, or dravet syndrome, is a. Background many of the most severe and complex epilepsy syndromes begin in early childhood. Dravet syndrome information page national institute of. Pdf klinische charakteristika, ressourcenverbrauch. The condition is marked by prolonged seizures during the first year of life and other seizure types emerging during the second year. Charlotte dravet first described severe myoclonic epilepsy of infancy in centre saint paul, marseille france in 1978 and the name was later changed to dravet syndrome in 1989. At some point before age 1, children with dravet syndrome begin to have frequent, prolonged seizures that are difficult to control with. Dravet syndrome and the challenges of pediatric epilepsy. Dravet syndrome patients require constant care to assure their safety due to the unpredictability of seizures as well as their inability to recognize real danger. New dravetspecific online resource for coping with covid19 now available. The more typical features of dravet syndrome usually become more obvious. Myoclonic atonic epilepsy mae is also known as doose syndrome. 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.
Organismal level homeostasis with dravet, an organisms. Dravet syndrome ds is a refractory epilepsy typically caused by heterozygous mutations of the scn1a gene, which encodes the voltagegated sodium channel nav1. Pdf introduction and objective dravet syndrome ds is a rare epileptic and developmental. Charlotte dravet who first described the condition in 1978. Previously known as severe myoclonic epilepsy of infancy smei, it affects 1. Dravet syndrome is an infantile epilepsy syndrome with intractable pleomorphic seizures, cognitive impairment, and a number of comorbidities including ataxiagait abnormalities and behavioral issues. Studies have shown cannabis has the capability of reducing, and in some cases eliminating, seizures. Retrospective experiences of stage 2 by parents of chil dren in stage 3 were included in.
Known as mycolonic epilepsy a genetic disorder scn1a gene mutation dravet in the neurosystem dravet is systemic, it disrupts the autonomic nervous system. 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. 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. In view of the predis position to seizures with fever that typically occurs in. Although variable, the general prognosis for doose syndrome typically involves some form of intellectual disability as well as resistance to medication.
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. Dravets syndrome ds or severe myoclonic epilepsy of infancy is a rare, genetic, and infantileonset epileptic. Severe myoclonic epilepsy in infancy smei was first described by dravet in 1982 and was added to the international league against epilepsy ilae classification in 1989. To help support families needs during the covid19 pandemic, weve launched a new online resource hub, gathering together advice, information and support services specific to coping with dravet syndrome during current lockdown and beyond. Dravet syndrome is an infantile epilepsy syndrome with intractable pleomorphic seizures, cognitive impairment, and a number of comorbidities including ataxiagait abnormalities and. The syndrome was first described in 1982 by a french doctor named charlotte dravet and was. Dravet syndrome is a very rare form of childhood epilepsy. Dravet syndrome is a rare and severe type of epilepsy. Optimizing the diagnosis and management of dravet syndrome. A longterm followup study of dravet syndrome up to adulthood. 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.
Abstract researchers at the national hospital, queen square, great ormond street hospital, and other centers in the uk. 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 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. There is a high likelihood of recurrent status epilepticus. Statistics of dravet syndrome 1 people with dravet syndrome have taken the sf36 survey. Click on the link to view information on this topic. Mae affects boys more than girls and starts in early childhood with the first seizure usually occurring between 2 to 6 years of age. 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. Known as mycolonic epilepsy a genetic disorder scn1a gene mutation dravet in the neurosystem dravet is systemic, it. Dravet syndrome is characterized by psychomotor developmental slowing, cognitive deficits in addition to behavioral disorders. Dravet syndrome is a rare, catastrophic, lifelong form of epilepsy that begins in the first year of life with frequent andor prolonged seizures. Severe myoclonic epilepsy of infancy dravet syndrome. It usually presents with a prolonged seizure with fever that affects one side of the body. 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.
Additionally, they are at significant risk of sudden unexplained death. The glucagonlike peptide1 analogue liraglutide reduces. The epilepsy usually starts with seizures that may seem to be very similar to febrile convulsions. The condition appears during the first year of life as frequent fever. Klinische charakteristika, ressourcenverbrauch, lebensqualitat. 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. West syndrome, dravet syndrome and doose syndrome which are epileptic syndromes observed in infancy are also classified as epileptic encephalopathies. Valproate in the treatment of epilepsy in girls and women of childbearing potential. Total score ranges from 0 to 3,600 being 0 the worst and 3,600 the best.
It usually presents with a prolonged seizure with fever. Glucagonlike peptide1 glp1 analogues, effective therapeutic agents for the treatment of diabetes, have recently become attractive treatment modalities for patients with nervous system disease. Dravet syndrome foundation, cherry hill, new jersey. Dravet syndrome nord national organization for rare disorders. Dravet syndrome previously known as severe myoclonic epilepsy of infancy starts in early infancy and evolves through different stages to adulthood.
Dravet syndrome epilepsy disorders causing seizures. Arriving at the correct epilepsy syndrome andor etiology allows better decisionmaking about treatment and improves patient care. 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. Once a year we bring our dravet families together at center parcs in nottingham for an amazing weekend of fun and community support read about it here. Dravet syndrome presents differently in each patient.
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. For those with dravet syndrome and other intractable forms of childhood epilepsy, current treatment options are extremely limited. Some of the symptoms associated with dravet syndrome include. Dravet syndrome dravet is form of epilepsy that forms in infancy. 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 is a clinical diagnosis, meaning that the diagnosis is based on the age of onset of seizures, seizure types, and progression of symptoms. 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. Find, read and cite all the research you need on researchgate. Dravet syndrome is within the scope of wikiproject epilepsy, a collaborative effort to improve the coverage of all aspects of epilepsy and epileptic seizures on wikipedia. Dravet syndrome genetic and rare diseases information.
Dravet syndrome is characterized by high epilepsyrelated premature mortality and a marked young age at death. Dravet syndrome is a rare, drugresistant epilepsy that begins in the first year of life in an otherwise healthy infant. Dravet syndrome is a severe form of epilepsy that is part of a group of diseases known as scn1arelated seizure disorders. Dravet syndrome, also referred to as severe myoclonic epilepsy of infancy or smei is a rare form of epilepsy that begins during infancy. At least 70% of cases are due to heterozygote loss. Dravet syndrome is a rare and severe form of epilepsy. The condition appears during the first year of life as frequent feverrelated febrile seizures. Dravet syndrome ds, previously known as severe myoclonic epilepsy in infancy smei, is a devastating epileptic syndrome. Dravet syndrome italian journal of pediatrics full text. The condition is marked by prolonged seizures during. Dravet syndrome ds is a severe form of epilepsy characterized by frequent, prolonged seizures often triggered by high body temperature hyperthermia, developmental delay, speech impairment, ataxia, hypotonia, sleep disturbances, and other health problems. The dravet syndrome foundation, inc, a nonprofit organization, offers information and support resources for dravet syndrome the national institute of neurological disorders. Dravet syndrome is a distinctive, earlylife epilepsy with a reported incidence of 1 in 15,700 to 1 in 40,900.
Overview of dravet syndrome dravet syndrome, which is also referred to as severe myoclonic epilepsy of infancy. Out of 500 children with epilepsy, only one, or at most two, children are likely to have this form of epilepsy. Dec 29, 2016 dravet syndrome is a severe form of epilepsy that is part of a group of diseases known as scn1arelated seizure disorders. Dravet syndrome definition of dravet syndrome by medical. At least 70% of cases are due to heterozygote lossoffunction mutations in the scn1a gene. Clinical presentation the typical presentation occurs during the first six months to. Sep 29, 2009 severe myoclonic epilepsy in infancy smei was first described by dravet in 1982 and was added to the international league against epilepsy ilae classification in 1989.
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