NHS Continuing Healthcare. FDA-approved indication: Fintepla (fenfluramine) is indicated for the treatment of seizures associated with Dravet syndrome in patients 2 years of age and older. placeholder for the horizontal scroll slider, Office of Rare Disease Research Facebook Page, Office of Rare Disease Research on Twitter, U.S. Department of Health & Human Services, Caring for Your Patient with a Rare Disease, Preguntas Más Frecuentes Sobre Enfermedades Raras, Como Encontrar un Especialista en su Enfermedad, Consejos Para una Condición no Diagnosticada, Consejos Para Obtener Ayuda Financiera Para Una Enfermedad, Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos, Human Phenotype Ontology Severe myoclonic epilepsy of infancy (SMEI) was first described by C. Dravet (1978) as a well‐characterized condition. [PMC free article] Research also suggests that a ketogenic diet, which is high in fats and low in carbohydrates, may help people with Dravet syndrome. Be aware that physical, mental and behavioural symptoms may change as a young person with Dravet Syndrome goes through puberty and starts to transition into young adulthood. It is important to be aware that these young people are vulnerable. If you’re worried that a child or young person is at risk or is being abused contact the children’s social care team at their local council. 4. This information comes from a database called the Human Phenotype Ontology Dravet syndrome is a rare form of epilepsy that starts when an otherwise healthy child is a baby.. FDA-approved indication: June 2018, cannabidiol (Epidiolex) was approved for the treatment of seizures associated with Lennox-Gastaut syndrome (LGS) or Dravet syndrome (DS) in patients 2 years of age and older. There are experts who can help discuss sex education issues with vulnerable young people in a way that is pitched at the right level for them to understand. Be aware that physical, mental and behavioural symptoms may change as a young person with Dravet Syndrome goes through puberty and starts to transition into young adulthood. 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 … Previously known as Severe Myoclonic Epilepsy of Infancy (SMEI), it affects 1:15,700 individuals, 80% of whom have a mutation in their SCN1A gene. About 2 to 5% of children with epilepsy have LGS. We also encourage you to explore the rest of this page to find resources that can help you find specialists. It can be very challenging to talk about sexuality and related behaviours with young people with Dravet Syndrome. National Library of Medicine Drug Information Portal. The statistics can seem quite scary: people with disabilities are four times as likely to be a victim of sexual abuse and any other crime. Dravet syndrome is a rare, genetic epileptic encephalopathy that gives rise to seizures that don’t respond well to seizure medications. Puberty in girls with Dravet syndrome is very similar to pube rty in typically developing girls, though their understanding of and ability to communicate these changes may be significantly impaired. People with the same disease may not have You can find more tips in our guide, How to Find a Disease Specialist. Your GP may also refer you onto expert services in sex education and in managing behaviours relating to emerging sexuality. Read More. We want to hear from you. Advice on how to cope with changes that might occur when your child with Dravet Syndrome reaches puberty and early adulthood. 1. They may be able to refer you to someone they know through conferences or research efforts. 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. Visit our this page for links to organisations who can help and advise regarding each of these aspects of family life and download our Transition Guide. SUDEP in Dravet Syndrome •SCN1A gene mutation in 80% (codes for Nav1.1 channel protein) •Nav1.1 exists in sinus node of mouse, rate, dogs (Maier. We want to hear from you. Dravet syndrome is among the most challenging electroclinical syndromes. A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Dravet syndrome. That means that one of the parents will test positive for the same SCN1Agene mutation as their child. 2009; 5 (9):e1000649. How can we make GARD better? • Frequency of osteopenia, broken bones, and gait disturbances increased with age. Safeguarding vulnerable young adults is a sensitive issue. PLoS Genet. If you have problems viewing PDF files, download the latest version of Adobe Reader, For language access assistance, contact the NCATS Public Information Officer, Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311. If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. The most common disorders were psychomotor delay (n = 12), psychiatric disorders (n = 7) and/or epilepsy (n = 5). Do you have updated information on this disease? The in-depth resources contain medical and scientific language that may be hard to understand. The disease begins in infancy and is lifelong. Dravet syndrome, previously known as severe myoclonic epilepsy of infancy (SMEI), is an autosomal dominant genetic disorder which causes a catastrophic form of epilepsy, with prolonged seizures that are often triggered by hot temperatures or fever. There are often young carers or sibling services, which can be supportive to young people who have a sibling with Dravet Syndrome. doi: 10.1371/journal.pgen.1000649. Dravet syndrome is an intractable childhood epilepsy syndrome most often associated with an SCN1A mutation. The HPO collects information on symptoms that have been described in medical resources. However, availability may be dependent on laws of individual States. Being a sibling of a child with Dravet Syndrome comes with its challenges and its rewards. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. •To illustrate body changes and the menstrual cycle in puberty. It begins in the first year of life in an otherwise healthy infant. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external). In the end, all people are different and children need support in different ways. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) Seizures may increase before and during periods. If you can’t find a specialist in your local area, try contacting national or international specialists. These changes can bring a new set of challenges that affect not only the young person but also the entire family. These resources provide more information about this condition or associated symptoms. 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