All parents want the best for their child. Making sure the child receives the best care they can get is more than just a responsibility. This is why it is important for parents to take care of your health so that you can take care of your child better and provide the best childhood moment that you can offer. However, not all children are lucky to have a healthy and active life like others. Diseases such as Dravet syndrome may snatch away their childhood time and leave parents with worries.
What exactly is Dravet syndrome? Dravet syndrome is an epilepsy syndrome that begins in infancy or early childhood. It is a rare condition given the fact that it does not respond well to antiepileptic medications. It is estimated that 1 out of 20000 to 1 out of 40000 people are affected with this disorder. Before 1989, it was used to be known as epilepsy with polymorphic seizures, polymorphic epilepsy in infancy (PMEI), or severe myoclonic epilepsy in infancy (SMEI).
Most cases of Dravet syndrome are caused by mutation in the gene, specifically the SCN1A gene. This gene functions to maintain the proper function of brain cells. SCNA1 gene provide instructions for sodium channels known as NaV1.1 that transport sodium ions into cells. This gene play key role in the brain cell’s ability to generate and transmit electrical signals. Mutations of the SCN1A gene lead to an alteration of the channel’s structure, a non-functional version of the NaV1.1 or reduce/increase the channel activity. However, it is still unclear how the changes in genetic lead to range of varying severity seizure disorder. Although it is caused by genetic, the mutation is most often not inherited from parents. It is considered a new mutation in children and it is worth noting that not all SCN1A mutations are associated with Dravet syndrome.
Before a child is affected with seizures, the child typically has already reached developmental milestones on time. This means that the child was actually active and healthy as other children would for their age. However, when symptoms set it, the child will have developmental delay and features of autism spectrum disorder. As seizures increase, the pace of developing skills slows and the child starts to lag in development. By later childhood, most children develop a crouched walk. Other symptoms include changes in eating and balance.
Children with Dravet syndrome initially show focal (confined to one brain region) or generalised (throughout the brain) convulsive seizure that begins before the age of 15 months old (typically before the child reaches one years old). This initial seizure often lasts and involves half of the body and may be followed by seizures that switch to the opposite part of the body. The first seizures most often occur with a fever or also known as febrile seizures. After the first febrile seizure, additional seizures may occur without fever and some may be triggered even by the slight changes in body temperature such as from hot weather or warm baths. Other seizure types occur after the age of 12 months with various kinds. Frequently, a state of continuous seizures (status epilepticus) usually occurs in the first 5 years of the child’s life.
The appearance of prolonged seizures which last more than 10 minutes and on one side of the body in the first year of life in a child that used to be well and healthy, particularly triggered by fever or change in body temperature is a strong indication of Dravet syndrome. There are few tests to diagnose the condition. Electroencephalogram (EEG) and MRI test are the two typical tests used to diagnose Dravet syndrome. However, these tests often show normal results when the seizures first appear. Thus, genetic testing, often via blood test, helps to diagnose Dravet syndrome by looking for the changes in SCN1A gene.
Current treatment options are limited and most often patients with Dravet syndrome often need constant care as the disease itself severely impacts the patient’s life. Apart from the suffering of the patients, families are also likely to get affected when taking care of the child. Treatment options available are anticonvulsant medications, specific diet such as ketogenic diet and implantation of small devices as vagal nerve stimulation. Since treatments are limited due to the small number of the patients, experimental treatments or clinical trials are constantly done to help seek for better treatments and improve the quality of life.
Seizures type often change and the prolonged seizure events may decrease in frequency once patients reach adulthood. The average lifespan for people with Dravet syndrome is unclear but it is estimated that 10 to 20% with the disease do not survive beyond the age of 10. In most cases, death is due to sudden unexpected death in epilepsy (SUDEP). Death may also be from the seizure severity itself and seizure-related accidents such as drowning and infections. SUDEP remains a risk in adulthood. As patients age, there is even greater need for medical support and community participation plus resources to help patients have a safe and fulfilling life.
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