People with down syndrome often learn in different ways. Down syndrome, it is estimated that the risk of having a second child with down syndrome is about one in 100. Calling slc6a1 is the doose gene is probably overstated. Dravet syndrome, doose syndrome 4, lennox gastaut syndrome 1, and idiopathic epilepsy 1. In 1989, the international league against epilepsy classified it formally as a symptomatic generalized epilepsy, and 20 years later it was renamed epilepsy with myoclonicatonic seizures. Epilepsy with myoclonicatonic seizures genetic and rare. Myoclonicastatic epilepsy mae, or doose syndrome, is an epilepsy syndrome of early childhood that is often resistant to medication. Mae is an idiopathic generalized epilepsy, meaning that there is no known cause for the seizures idiopathic and the seizures originate from all over the brain. Doose syndrome is considered a genetic generalised epilepsy but it often acts as an epileptic. Pdf an electroclinical epilepsy syndrome diagnosis enables. Communitybased study of lennoxgastaut syndrome hannu heiskala rinnekoti foundation, espoo, finland summary.
The seizures were investigated precisely by videoeeg n5, polygraph n2, and videopolygraph n23, which identified myoclonic seizures in 16 cases. For language access assistance, contact the ncats public information officer. Doose syndrome epileptic syndromes learning disabilities, other. Therefore, slc6a1 is the first proper gene for doose syndrome. An external file that holds a picture, illustration, etc.
Kelley sa, kossoff eh 2010 doose syndrome myoclonicastatic epilepsy. Mar 23, 2015 eventually, he was diagnosed with doose syndrome myoclonic astatic epilepsy, a severe form of generalized epilepsy that is known to be medicationresistant. Myoclonic astatic epilepsy mae, also known as myoclonic atonic epilepsy or doose syndrome, is a generalized idiopathic epilepsy. Pediatric epilepsy slide deck l i saii ea merican epilepsy. Patient use of cannabis in epilepsy featured in three new. Symptoms include seizures that can cause jerky body movements and potentially dangerous falls.
The seizures can be very different, consisting of jerks myoclonic seizures, sudden falls to the ground atonic or astatic seizures, or sometimes a jerk followed by a fall myoclonicastatic seizure. The documents contained in this web site are presented for information purposes only. Severe paediatric epilepsy syndromes epilepsy society. Although variable, the general prognosis for doose syndrome typically involves some form of intellectual disability as well as resistance to medication. Paolicchi, md, ma associate professor of neurology and pediatrics director, pediatric neurology director, pediatric epilepsy and eeg vanderbilt university. An informational guide for us healthcare professionals.
You may learn a little slower, or you may find it hard to learn. If you have problems viewing pdf files, download the latest version of adobe reader. Epileptic syndromes of the newborn and infant alex has a severe form of epilepsy called myoclonicastatic epilepsy, known as doose syndrome, which affects only 1 percent to 2 percent of children. Patient use of cannabis in epilepsy featured in three new studies. Myoclonic seizures are not characteristic of a specific epilepsy syndrome. She was diagnosed epileptic in the beginning of 20 and then was diagnosed with doose syndrome in the middle of 2014. Angelman syndrome, complex 1 mitochondrial disease, fires, ohtahara syndrome, superrefractory status epilepticus, dravet syndrome, doose syndrome, glut1 deficiency syndrome, formula fed children, infantile spasms, pyruvate dehydrogenase deficiency, tuberous sclerosis complex. These patients met the major characteristics of lennoxgastaut syndrome. May 02, 2018 survey and results raw data of the survey sent to neurologists in perc, aes, cns to determine how epilepsy with myoclonic atonic seizures emas, doose is evaluated and treated.
Dravet syndrome also called severe myoclonic epilepsy in infancy this epilepsy syndrome is increasingly recognised. Myoclonicastatic epilepsy doose syndrome pediatric focus. Absence seizures can happen when consciousness is lost briefly. This page is created for our son, gavin, fighting doose syndrome epilepsy. Doose syndrome has the best response to kd, but due to the small number of cases, the. Can a child with doose syndrome control hisher behavior. In some cases there may be seizures with stiffness and jerking of the whole. The natural history of myoclonic astatic epilepsy doose. Cbd in epilepsy rigorous scientific data are lacking anecdotal reports and case studies are not equivalent to a clinical trial about onethird of patients have 50% reduction in seizures during shortterm followup dramatic responses seizurefree are uncommon pdf print rss. Treatment usually involves high dose valproate in combination with other anticonvulsants. Over 300 attendees from around the world traveled to attend this comprehensive, three day meeting. Treatment of myoclonicastatic epilepsy is often very difficult. Antons fight with epilepsy maedoose syndrome home facebook. It is characterized by the development of myoclonic seizures andor myoclonic astatic seizures.
Pdf epilepsy with myoclonic atonic seizures doose syndrome. The worlds preeminent association of health care professionals and scientists working toward a world where no persons life is limited by epilepsy. Cbd in epilepsy rigorous scientific data are lacking anecdotal reports and case studies are not equivalent to a clinical trial about onethird of patients have 50% reduction. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Find out what kinds of foods your child can eat if she takes up the ketogenic diet, and learn about the challenges and side effects of a meal plan that gets rid of seizures in some kids with epilepsy. Myoclonic astatic epilepsy doose syndrome epilepsy action. Doose syndrome definition of doose syndrome by medical. An electroclinical epilepsy syndrome diagnosis enables physicians to predict outcomes as well as select appropriate treatment options. However, the age of the mother may also be a risk factor. Dravet syndrome life expectancy, about 20% of children with dravet syndrome pass away before adulthood. Parents of children with epilepsy on cbdthc 19 children 216 yrs used a cbdenriched medical marijuana group on facebook cbd dose international league against epilepsy. Treatment with antiepileptic drugs aeds is usually ineffective. West syndrome, dravet syndrome and doose syndrome which are epileptic syndromes observed in infancy are also classified as epileptic encephalopathies.
Premature death is also possible and they could happen before the age of 10. Delineation of cryptogenic lennoxgastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis a. Ketogenic diet effects on 52 children with pharmacoresistant. Most people with down syndrome learn things more slowly. Before 1986, the spectrum of child hood epilepsies, including lennoxgastaut syndrome lgs and doose syndrome ds, known collectively as epilepsia myoclonica astatica, was believed to represent a single disease. Myoclonicastatic epilepsy of early childhoodclinical and eeg analysis of myoclonicastatic seizures, and discussions on the nosology of the syndrome. Baseline video eeg showed that the child had at least 10 seizures per day while awake and asleep. May 15, 2020 doose syndrome is a form of epilepsy that typically first appears in young children. Po box 15224 colorado springs, co 809355224 tollfree. There are a wide range of epilepsies in which myoclonic seizures are the most prominent feature ranging from benign selflimiting epilepsies genetic or familial to severe progressive myoclonic epilepsies associated with cognitive impairment and unfavorable prognosis. Learn about seizure types, diagnosis, treatment and outlook for this syndrome that mostly affects boys. Doose syndrome epilepsy alliance genetic and rare diseases. At 12 weeks of kd treatment, the patients achieved i, ii, iii, and iv grade. It is usually characterised by generalised seizures, which may vary in type and frequency.
Children often present with atonic seizures drop attacks and they often have additional seizure types including absence seizures, myoclonic seizures, and generalized tonicclonic. Antons page is dedicated to spreading awareness of doose syndrome and childhood epilepsy to as many people as. Identifying the doose gene slc6a1 mutations in myoclonic. Other sz types incluse absence and tonicclonic grand mal.
Doose syndrome myoclonic atonic epilepsy age of onset 2 5 years of age seizure types myoclonic atonic seizure, atonic seizures, absence seizures, generalized tonic clonic associated eeg patterns biparietal theta slowing see figure, irregular generalized 23 hz spike and wave. A child aged 4 experiencing multiple seizure types tried several medications with various and limited benefits. It begins in the first year of life and affected children are previously normal. The becoming of children with doose syndrome full text view. Glut1 deficiency and myoclonic astatic epilepsy reassessed. Lennox gastaut syndrome foundation conference tracy dixon salazar the lgs foundation hosted their sixth international family and professional conference on lennoxgastaut syndrome last month in seattle, wa.
Incidence of down syndrome and maternal age maternal age incidence of down syndrome 20 1 in 2000 24 1 in 0 27 1 in 1050 30 1 in 900 33 1 in 600 36 1 in 300 40 1 in 100. Some children outgrow it others while others deveopmentally delays bad persitant szs. The epilepsy medicines that have been most successful are sodium valproate. Gavins battle, doose syndrome epilepsy home facebook. A rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure.
Doose syndrome is a very complicated type of children cryptogenic refractory epilepsy ccre which is traditionally studied by analysis of complex electrencephalograms eeg by neurologists. Myoclonic astatic epilepsy is a perplexing epilepsy syndrome that typically presents in preschool children with a fulminant onset. Maybe you have a great memory and do not need to write things down to remember them. Through the epilepsy foundation of northeastern new york, becky knew of another child with doose syndrome who had been treated with a highfat, very lowcarbohydrate diet called the. Ds was first described by charlotte dravet in 1978 and was found to have a genetic basis in 2001, with discovery of mutations in the voltagegated. Become golden ambassador answering these questions. Dravet syndrome symptoms, life expectancy and treatment. Doose syndrome, otherwise traditionally known as myoclonicastatic epilepsy, was first described as a unique epilepsy syndrome by dr hermann doose in 1970. Doose syndrome or myoclonicastatic epilepsy is a rare syndrome accounting for one to two percent of childhood epilepsies. Apr 16, 2015 therefore, slc6a1 is the first proper gene for doose syndrome. Doose syndrome is likely to be genetically heterogeneous and in contrast to dravet syndrome caused by various different genes. Epilepsy with myoclonicatonic seizures is a rare epilepsy syndrome of early. River is my 6 year old daughter who was diagnosed with myoclonic astatic epilepsy or doose syndrome.
Total score ranges from 0 to 3,600 being 0 the worst and 3,600 the best. Myoclonicastatic epilepsy was first described and identified in 1970 by herman doose as an epilepsy syndrome, hence its original label, doose syndrome. It is characterized by seizures of many different types, most often myoclonicatonic, astatic, or generalized tonicclonic seizures. Mae is an idiopathic generalized epilepsy, meaning that there is no known cause for the seizures idiopathic and the seizures originate. Epilepsy with myoclonicatonic seizures emas berg et al. No known cause exists for the condition, which is also known as myoclonic astatic epilepsy mae. Incidence of down syndrome and maternal age maternal age incidence of down syndrome 20 1 in 2000 24 1 in 0 27 1 in 1050 30 1 in 900 33 1 in 600. It almost always beginsin an 1850 month child who is developmentally normal until the szs begin. Help others answering the top 25 questions of doose syndrome. Epilepsy with myoclonicatonic seizures doose syndrome. Modified atkins diet helps children with rare form of. Other causes of death include accidental death secondary to drowning or injury and consequences of status epilepticus. Jul 25, 2018 epilepsy with myoclonicatonic seizures is a rare epilepsy syndrome of early childhood.