Autism and Epilepsy

By Adrian Sparrow
NeuLine Health

Neurological conditions can be challenging to diagnose when many symptoms affect brain function and behaviors, which can be obscured or misinterpreted as other diagnoses. In many cases, diagnoses overlap, with multiple conditions responsible for a patient’s symptoms.

Two or more conditions that commonly occur together are known as comorbidities. Autism has a long list of possible comorbid conditions, the most prevalent being epilepsy. An estimated half of autism diagnoses concur with epilepsy, but researchers don’t fully understand why.

Autism
Autism spectrum disorders (ASD) are a group of neurodevelopmental conditions that can affect a person’s speech, attention, cognition, and social behavior. An autistic child or adult may experience a wide gamut of symptoms and mannerisms. These can include repetitive motions (sometimes known as ‘stimming,’ or physically moving/flapping/smacking parts of the body to comfort, think more clearly or express a need), difficulties in social settings (such as maintaining eye contact and taking turns in conversation), and other challenges like nonverbal presentation or episodes, hypersensitivity to sensory input and selective eating- to name a scant few.

No two cases of autism are alike. “If you’ve met one autistic person, you know one autistic person.” There is no single test to diagnose autism; instead, doctors will review the patient’s medical history, symptoms, and behaviors, often with the help of peer and caregiver reports. Similarly, there is no single treatment. Autism is a ‘spectrum’ of symptoms that vary in presence and intensity. Some people require physical support and community to live a stable, healthy life; others might pursue psychotherapy and healthy coping skills to lead independent lives.

Epilepsy
Abnormal electrical activity in the brain can lead to seizure activity. Epilepsy is a neurological disorder marked by unexplained recurrent seizures, which can take several forms depending on where it starts in the brain. Focal onset, absence, and tonic-clonic seizures are just a few examples. Some symptoms of seizures include muscle contractions, repetitive behaviors, and loss of awareness or consciousness. Doctors will use EEGs, blood work, and other scans to diagnose epilepsy and treat it accordingly with antiepileptic medications.

Correlation
1.2 percent of the US population has epilepsy, and just 2 percent of children are diagnosed with autism. Studies have found that autism is ten times more common in people with epilepsy than in the general population.

It’s unclear whether autism contributes to epilepsy or if epilepsy is a consequence. Both conditions affect brain function, but researchers don’t fully understand why the two are linked. Researchers do note that one reason epilepsy and autism co-occur is ‘due to the presence of common pathogenic mechanisms’ (source), including synapse dysfunction, inflammation, and abnormal glial cell interactions.

Some genetic disorders are associated with both autism and epilepsy, including Fragile X and Angelman syndrome. Other contributing factors include having an autistic sibling, even if the epilepsy patient doesn’t have autism.

There isn’t one type of seizure that is more prevalent in people with both autism and epilepsy. Having autism doesn’t change the diagnosis or treatment of epilepsy either, but similar symptoms can make finding a diagnosis more involved. Inattention, repetitive sensory stimulation, and loss of focus, balance, and coordination are all symptoms of both autism and seizures.

Not all autistic people will have seizures or epilepsy, and not all people with epilepsy are autistic. While research has shown that they frequently occur together, more research is needed to determine why.

Resources:

How the FDA’s Patient-Focused Drug Development Program is Advancing Drug Development

Around ten years ago, the Food and Drug Administration (FDA) acknowledged the unmet need — and urgency — of including patient perspective in drug and device development in a systematic way.

Patient-Reported Outcomes Part 2 of 2: Clinical Trials and Their Crucial Role in Neurology

While patient-reported outcomes are becoming increasingly standard in clinical trials, their impact still needs to be fully understood. Clinical trials, like peer-reviewed journals, face scrutiny and require rigorous analysis before results can be considered confirmatory.

Patient-Reported Outcomes Part 1 of 2: A Primer

Patient-reported outcomes (PROs) are clinical trial measures that capture the patient’s own perspective on how they feel. While they are commonly used in clinical trials, they are also used in the clinic as another measure to gauge a patient’s health over time.