The Connection Between Autism and Epilepsy

Epilepsy, a neurological disorder that causes seizures, is significantly more common among people with autism than among the general population. In fact, while less than 2% of the general population has epilepsy, studies suggest that up to 30% of people with autism have the disorder.

The association between the two disorders has caused researchers to ask the question: Could neurological disturbances actually cause some cases of autism? While the answer isn't clear, studies have presented some very intriguing findings.

About Epilepsy

Epilepsy, also known as "seizure disorder," is a relatively common neurological disorder. It can (though doesn't always) start in childhood, and may the result of abnormal brain development, injury, or illness.

Epilepsy is usually diagnosed if a person has two or more "unprovoked" seizures (seizures that are not obviously caused by a known condition such as low blood sugar or alcohol withdrawal). It is confirmed with the use of an electroencephalogram (a test that measures brain waves) or magnetic resonance imaging (MRI) (test that images the brain).

Epileptic seizures are caused by unusual surges of electrical activity in the brain which are set off by chemical reactions. Seizures may be dramatic and disabling or barely noticeable, and they may have a variety of symptoms that range from muscular spasms to "absence" events. Symptoms may also include "auras" (unusual sensory events preceding seizures) and aftereffects such as fatigue or nausea.

Many people are able to control their epilepsy through the use of medications. Just a few of the most commonly used include:

• Carbatrol, Tegretol, others (carbamazepine)
• Dilantin, Phenytek (phenytoin)
  
• Gralise, Neurontin (gabapentin)
• Topamax (topiramate)
• Valproic acid

While these drugs may control the seizures, however, many have significant side effects. It is important to carefully monitor the impact of drugs to be sure that the treatment is not more problematic than the disorder it is treating.

The Autism-Epilepsy Connection

Not only is epilepsy significantly more prevalent for people with autism, but autism is also about 10 times more likely than normal for people with epilepsy. This finding is consistent across multiple studies conducted over the course of decades, though the exact prevalence ranges widely from study to study.

It can be difficult to determine the prevalence of autism in people with autism because the symptoms of the two disorders look so similar. Specifically, both autism and epilepsy can present with:

• Unusual tics and physical movement
• Blank stares
• Inattention or loss of focus
• Unusual sensory experiences

Despite these confounding factors, researchers have discovered some interesting facts about the overlap between autism and epilepsy. Specifically:

• People with intellectual disabilities (ID) are more likely, in general, to have epilepsy than those without ID. Among people with autism, intellectual disability is a strong predictor of epilepsy (though it is not the only predictor).
• There is an association between epilepsy and autistic regression (loss of already-developed skills).
• While autism always develops in childhood, people with autism may develop epilepsy in childhood or adulthood.
• While nearly four times more people with autism are male than female, some studies suggest that autistic women are more likely to have epilepsy than autistic men.

Exploring the Autism-Epilepsy Connection

The unusual co-morbidity between autism and epilepsy has led researchers to explore the possible connections between the two disorders, asking questions such as:

• Could epilepsy and autism share a common cause?
• Could epilepsy cause autism (or vice versa)?
• Could treatments for epilepsy be effective for symptoms of autism?
• Are certain types of autism closely associated with epilepsy (or vice versa)?

While findings are not conclusive, there are some intriguing results from research.

Could Epilepsy and Autism Share a Common Cause?

In some cases, the causes of epilepsy and autism are well known. For example, some cases of epilepsy are clearly the result of brain injury, while some cases of autism are clearly the result of a genetic disorder. Many cases of both disorders, however, are idiopathic—meaning of unknown origin.

Research studies have explored the possibility that, in at least some cases, autism and epilepsy may have the same cause or causes. The outcomes suggest that the answer may be "yes," and that both genetic and environmental causes could be implicated.

Several conditions caused by genomic copy number variation or mutations in single genes have been associated with both ASD and epilepsy. These include tuberous sclerosis, Rett Syndrome, and Fragile X syndrome, among others. There are a number of other theories related to genetic differences that seem to connect autism and epilepsy. The evidence is mounting that epilepsy and autism can be caused (at least in part) by the same genetic anomalies.

In addition to genetic factors, certain environmental factors seem to be associated with both autism and epilepsy. Just a few include:

• Air pollution and environmental toxins
• Intrauterine infection during pregnancy
• An epileptic mother taking anti-epilepsy medication (especially valproate) during pregnancy
• Brain damage during delivery
• Neo-natal disorders such as jaundice
• Certain metabolic conditions

Could Epilepsy Cause Autism or Vice Versa?

While there is no obvious way that autism could cause epilepsy, there are several studies that suggest that epilepsy could be one cause of autism.

Severe epileptic seizures in infants and very young children (especially those called infantile spasms) can negatively impact the developing brain. If the seizures are treated surgically, the outcome is improved social behavior and higher IQ. One study is exploring the possibility that treatments to avoid seizures in high-risk infants with tuberous sclerosis could lower the likelihood of developing autism later in life.

One severe epilepsy disorder called Landau-Kleffner syndrome is known to cause developmental regression and autistic-like symptoms.

Could Epilepsy Treatments Be Effective for Autism?

One of the most frustrating aspects of autism is the reality that there are no drugs that seem to treat its core symptoms. As a result, autism is treated symptomatically with medications to reduce anxiety and improve attention, and with therapies to help build social communication skills. But if there is a strong correlation between epilepsy and autism, the possibility exists that epilepsy treatments could be effective for autism.

In addition to the study which is exploring the impact of preventing seizures in infants with tuberous sclerosis, other projects are underway. One study found that valproate, an anti-seizure medication, seemed to reduce irritability in young children with autism and epilepsy. Another study is looking at the impact of anti-seizure medications on autistic children who do not have obvious symptoms of epilepsy.

If You Suspect Your Autistic Child Is Having Seizures

Because of the high correlation between autism and epilepsy, it is not unusual for an autistic child to also have seizures. In some cases seizures are visually obvious: a child has convulsions, becomes rigid, or loses consciousness. In other cases the seizures are more difficult to pinpoint; symptoms may include a minute or two or non-responsive staring or sensory experiences that are outside the norm.

As mentioned, it can sometimes be difficult to separate epileptic symptoms from autistic symptoms, especially if a child is non-verbal or has typical autistic symptoms such as "stimming" (perseverative behaviors that make include rocking, tapping, flicking, or pacing).

If you suspect epilepsy (or if a teacher or therapist suspects epilepsy), it's important to have your child evaluated and, if necessary, treated for seizures. The following steps are usually followed:

1. Start by consulting your pediatrician who will ask questions and screen your child for possible seizures.
2. If your pediatrician believes there is cause for concern, they may recommend that you see a pediatric neurologist. Your pediatrician may also order an EEG and/or an MRI to test for unusual brain activity or brain abnormalities.
3. If testing reveals epilepsy, your child's healthcare provider will probably recommend medication to control the seizures. It is very important to discuss possible side effects and to be sure that anti-seizure medication will not interact with any other drugs your child is taking or worsen autistic symptoms.
4. Because your child is autistic, your healthcare provider may also recommend genetic testing to find out whether your child has a genetic disorder, such as Fragile X, which is associated with both autism and epilepsy.

Living With Epilepsy

While many people with epilepsy can control their seizures through medication, others live with uncontrolled seizures. If your child's seizures are controlled through medication, there will be no particular additional concerns except ongoing visits with your child's neurologist to adjust medication or address side effects.

If your child's seizures are not controlled you will need to address issues and take specific precautions. As the parent of a child with autism, however, you may already be addressing many of those concerns. Specifically, children with epilepsy may:

• Have delays or difficulty with self-care, fine and gross motor coordination, learning, communication, and behavior
• Need extra supervision during potentially dangerous activities such as bathing, showering, swimming, or sports
• Be less active than children without epilepsy
• Have trouble sleeping or concentrating
• Be the victim of bullying or teasing
• Feel ostracized by peers

In addition, you will need to address safety and wellness issues with teachers, aides, and therapists who work with your child. Be sure they are aware of your child's seizure disorder and check to be sure they have been trained in managing seizures safely should they occur. You also may wish to provide teachers and/or classmates with information about epilepsy, particularly if your child's seizures are likely to be dramatic and/or frightening.

Like autism, epilepsy is a neurological disorder that can daily life more complex and difficult. Unlike autism, however, epilepsy is fairly well understood and can often be controlled. Epileptic seizures are very rarely dangerous and may diminish or change as your child grows up.

Once your child is diagnosed and treatments are selected, you may choose to reach out for support to other parents who are dealing with a dual diagnosis of autism and epilepsy. Just knowing others who are coping with the same struggles can often be helpful—and often others in the same situation can recommend therapists, school programs, and other resources that are appropriate for your child.