While epilepsy ranks fourth in most common neurological disorders, there are still common misconceptions about the condition, which can develop at any age. In the US alone, 1 in 26 people will develop epilepsy at some point in their lifetime.
With November being “National Epilepsy Awareness Month,” we spoke to Roberto Tuchman, M.D., who is the director of autism and neurodevelopment programs at Miami Children’s Hospital. Tuchman founded the hospital’s Dan Marino Center for children with developmental disorders and gives lectures around the world on the topics of epilepsy, autism, and learning disorders. He is also a Dana Alliance member.
According to the Epilepsy Foundation, there are more than twice as many people in the US with epilepsy as the number of people with cerebral palsy, muscular dystrophy, multiple sclerosis, and cystic fibrosis combined. While there is no cure as of yet, what are the most effective types of treatment?
Epilepsy, from an operational perspective, is now defined as a “disease of the brain” and is characterized by any of the following:
- At least two unprovoked seizures occurring greater than 24 hours apart.
- One unprovoked seizure and the probability (as determined by the general recurrence risk after two seizures, at least 60 percent) of having another seizure over the next ten years.
- The diagnosis of an epilepsy syndrome. The conceptual definition of epilepsy includes not just seizures—that is, clinical events due to abnormal electrical activity in the brain—but emphasizes the cognitive, psychological, and social consequences of this disorder.
The complexity and heterogeneous nature of epilepsy has challenged the finding of a cure and the focus of treatment has been on the seizures.
The treatment of seizures can be very effective with the use of medications, i.e. anticonvulsants that target different cellular mechanisms involved in the development of seizures. In individuals who continue to have seizures despite an adequate trial of different anticonvulsants an evaluation to determine the focus of the seizures may lead to epilepsy surgery, which, in certain individuals, is a very effective method of treating the seizures. There are other options if an individual is not a surgical candidate and continues to have seizures despite anticonvulsant treatment, such as the ketogenic diet, vagus nerve stimulation, or deep brain stimulation.
It is important to remember that approximately 70 to 80 percent of all seizures can be controlled and that people with epilepsy can participate in the majority of activities they were previously participating in. In addition to treating the seizures, there has been increased emphasis on treating the associated cognitive, psychological, and social consequences of epilepsy. Early identification of developmental problems such as attention deficit hyperactivity disorder, learning disorders, and autism spectrum disorders (ASD), in epilepsy, can lead to behavioral and educational interventions that maximize that child’s life.
In adolescence and adulthood, treatments directed at anxiety and depression and working with psychologists and other mental health professionals to maximize quality of life issues is an important aspect of the comprehensive management of epilepsy. The hope is that in the near future our basic science understanding of the brain mechanisms that lead to seizures–“Epileptogenesis”–will allow for the development of pharmacological treatments that not only address the seizures but also address the cognitive, psychological, and social aspects of epilepsy.
As a specialist in pediatric neurology, you have done a lot of research focusing on the connection between autism and epilepsy. Can you tell us a little more about your work?
About 25 years ago I was interested in understanding what risk factors were associated with an increased risk for epilepsy in children with autism spectrum disorders (ASD). It turned out that the highest risk for developing epilepsy in children with ASD is in those with moderate to severe intellectual disability. This is a finding that has now been reproduced in numerous studies.
Further research has shown that there is a bi-directional relationship between epilepsy and ASD. That is, children with ASD have a higher risk of developing epilepsy than expected in the general population, ranging from 5 percent in those with mild or no intellectual disability to 30 percent in those with moderate to severe intellectual disability. In a similar manner, children with epilepsy are at high risk for developing ASD, ranging from 2 to 5 percent in those with mild or no intellectual disability, to 30 percent in certain epilepsy syndromes associated with moderate to severe intellectual disability.
Research on epilepsy and ASD has taught us which populations of children with ASD need to be monitored closely for the development of seizures and which populations with epilepsy need to be monitored for the development of ASD. The latter is important in that children with epilepsy at risk for ASD should be screened for ASD and if problems with social cognitive function are found, early intervention can be instituted.
Studies of epilepsy and ASD are demonstrating shared mechanisms that account for the connection between them. Specifically, common genetic underpinnings for both disorders and for intellectual disability have been identified. There seems to be a set of developmental genes that disrupt brain development processes that may lead to epilepsy, autism spectrum disorders, intellectual disability, or a combination of these disorders. Of importance, these large sets of developmental genes seem to converge on common molecular pathways. Identification of these specific molecular pathways common to epilepsy and ASD is an exciting area of research as it holds the promise of developing therapeutic agents that target the core developmental processes that account for the development of epilepsy, ASD, or both.
Are there any telltale signs of an impending seizure? What is the correct first aid for someone who is experiencing a seizure?
Seizures are very unpredictable and can be brief and hard to detect. One is more suspicious of a clinical event being a seizure if the symptoms are similar every time they occur, if they occur from sleep, or if they are associated with impairment of consciousness or rhythmical movements. Sometimes there is a feeling or behavior that can precede a seizure or occur very early on in the seizure. These feelings or behaviors can be quite variable and may include unusual feelings or experiences, unusual smells or tastes, tingling or numbing sensations, unexplained confusion or excessive sleepiness, or pain such as headaches. On the other hand, the majority of individuals’ seizures are unpredictable and not associated with any behaviors or sensations, which results in much preoccupation for individuals with epilepsy and for their families.
When someone has a seizure, it is just as important to think about what not to do as it is to think about what one needs to do. The “not to do” list includes not putting anything in the person’s mouth or giving water or food until the person is fully alert. Do not hold the person down. Stay calm and think about preventing injury. Remove any objects that could cause injury, move onlookers away, pay attention to the length of the seizure, and if it lasts more than 3 minutes call 911.
The risks of sports-related concussions and traumatic brain injury (TBI) are well known to the public from recent news. Something less talked about is post-traumatic epilepsy (PTE), which can develop as a result of TBI. What is the likelihood of developing PTE after head trauma?
There are early post-traumatic seizures that occur in the first week of an injury and about 25 percent of those individuals will have another seizure. Late post-traumatic seizures occur one week after TBI, and approximately 80 percent of those people will go on to have a second seizure. The risk of developing seizures after TBI varies depending on the type of injury. For example, in the general population only about 2 percent of individuals with head trauma who seek medical attention develop PTE. So the risk is less than 1 percent for those with TBI that did not cause prolonged loss of consciousness (for greater than 30 minutes) and was not associated with a skull fracture. If there is loss of consciousness for greater than 30 minutes or skull fracture, the risk increases to about 2 percent. If TBI is caused by a bullet or other penetrating missile type injury, that risk of PTE increases to greater than 50 percent. If the head injury causes bleeding in the brain or between the brain and the skull, the risk of developing seizures is 10 to 20 percent. In general, the risk of PTE in the common sports activities that most children, adolescents, and adults participate in is less than 1 percent.
There are a lot of stigmas surrounding epilepsy. In your opinion, what is the most common misconception about the condition?
The stigma of epilepsy has changed over time and needs to be placed into cultural context. For example, epilepsy is still considered a mental disease in many cultures and this misconception still applies at a global level. I think that in the United States, the most common misconception is that people with epilepsy are different and as such need to be limited in their participation of activities. It is true that certain precautions need to be taken, and families of people with epilepsy need to be educated about what activities put them at risk for injury (for example, driving a car or swimming alone).
The implications of this stigma and misconceptions about epilepsy vary by age group. In infants, children, and adolescents, we tend to see overprotection by families that creates a “vulnerable child” mentality restricting these children in a way that limits their participation in activities and as such full enjoyment of childhood. In adolescents and young adults, friends may not include them in activities such as parties because of a misconception about the risks of having seizures. There may be limitations in terms of people’s conception of what people with epilepsy are able to do regarding work-related activities. The message that still needs to be communicated is that epilepsy can be managed in such a way that people with epilepsy can participate and enjoy life to the fullest.
To help spread the word about Epilepsy Awareness on social media, use #DareTo Go the Distance. The Epilepsy Foundation has listed specific messages to share, whether it’s to find a treatment center, share tips, or gain overall awareness. If you’re interested in learning more about epilepsy or other neurological conditions, you can visit our BrainWeb page, which offers a wide range of validated health resources from both the Dana Foundation and elsewhere.
– Seimi Rurup