People with Autism Spectrum Disorders (ASD) have a shorter life expectancy than the general population mostly because of various co-morbid medical conditions that affect their health. We do not know why but young people, those with severe intellectual disabilities, and females are at greater risk. It has been documented by population studies in California and Denmark that nearly one-third of deaths of autistic individuals are associated with or caused by epilepsy. The authors of the studies stress the importance of including internists and neurologists in the ASD care system to assure that physical and neurological illnesses are recognized and properly treated.
Epilepsy occurs at a higher rate in the ASD population as compared to the general population. The brain abnormalities that underlie autism also probably act as a focus for epileptic discharges vs. cause the epilepsy. About 30% of children and adults with autism develop epilepsy. Those who are more intellectually disabled or who have a specific cause of their autism (like Downs syndrome or Fragile X syndrome) are more likely to have epilepsy. About 30% of children with epilepsy seen at major medical centers have autism. Children who have both autism and epilepsy tend to have more developmental issues than those with either autism or epilepsy alone. The most common times for seizures to start in patients with autism are infancy and adolescence. Seizures persist into adult life in most.
Sudden unexpected death unfortunately occurs at every age in both the well and the ill, but it is rare. People with epilepsy are at greater risk. Sudden unexplained death in epilepsy (SUDEP) accounts for almost one fifth of all deaths in patients with epilepsy. Risk factors include: young age, early onset of seizures, difficult to control epilepsy, grand mal seizures, and male sex. SUDEP probably occurs during a seizure and most often occurs at night.
Many investigators are trying to determine the cause(s) of SUDEP in order to figure out ways to prevent it. Molecular autopsies, which look for genes that are associated heart rhythm issues, are likely to advance our understanding of SUDEP. Almost 10% of infants with sudden infant death syndrome (SIDS) turn out to have genetic cardiac arrhythmias. The Autism Tissue Program (ATP), run by Jane Pickett, recruits brain donors for standard and molecular autopsies. Studies of brain tissue is particularly important for learning about epilepsy related deaths and her project is definitely critical to understanding and then preventing SUDEP, as well as determining causes of autism.
Since epilepsy is common in autism, a number of studies have looked at the value of doing EEGs in children with autism even when they do not have obvious seizures. Abnormal EEGs are seen in anywhere from 10% to 70% of children with autism. But, abnormal EEGs can occur in people who don’t have epilepsy. Indeed, only 5% to 30% of people with autism who have abnormal EEGs actually have epilepsy. Currently, neurologists think there is insufficient medical evidence to perform an EEG to rule out underlying subclinical seizures in a child with autism, even one who regresses, who does not have typical seizures. In one recent study of 22 patients referred for possible seizures had evaluations using overnight video EEG (VEEG) monitoring, 15 had “events” during the VEEG that concerned their parents, but none of these turned out to be a seizure. EEG abnormalities indicating seizure potential were detected in almost all. Thus, VEEG of children with autism reveals EEG abnormalities very frequently. But most of the time the finding does not indicate seizures.
We do not know if the abnormal EEG activity persists and if so for how long. Could abnormal EEG activity herald epilepsy? We just don’t know. Does SUDEP occur in people with abnormal activity on EEG who has never had seizures? Probably not, since changes in heart rate, blood pressure, etc. during seizures likely cause SUDEP not the electrical changes in the brain. Does medication treatment in people with epileptiform activity on EEG who have never had seizures prevent epilepsy? Another question doctors can’t answer yet.
In 2009, The Daniel Jordan Fiddle Foundation developed and created a public service brochure called Autism, Epilepsy & Seizures: How to Recognize the Signs and Basic First Aid When You Do to educate the community and generate awareness about this co-condition. The brochure is offered free of charge and can be reprinted from The Daniel Jordan Fiddle Foundation website (www.djfiddlefoundation.org) and is also available on the websites of many other autism organizations including Autism Speaks and the Autism Society of America. Linda Walder Fiddle, Founder and Executive Director of The Daniel Jordan Fiddle Foundation expressed the importance of this community resource: “Because of the prevalence of epilepsy among individuals living with autism, service providers, first responders, school personnel and the community at large as well as parents and caregivers need to be aware of this co-condition and how to identify the symptoms as well as basic first aid techniques.”
The brochure that was spearheaded and produced by The Daniel Jordan Fiddle Foundation was a collaborative effort that included input and oversight from The Epilepsy Foundation of New Jersey, Autism Family Services of New Jersey and Dr. Ruth Nass, a member of the foundation’s Advisory Board and the Nancy Glickenhaus Pier Professor of Pediatric Neuropsychiatry, Professor of Child Neurology, Child & Adolescent Psychiatry, and Pediatrics at NYU Langone Medical Center. “The brochure includes a fold-out chart that can easily be displayed in all community settings and is being offered as a public service to families, schools, colleges, community centers, restaurants, fire and police stations, EMS providers…anyone who might be a first-responder that could make a life-saving difference.” According to Dr. Nass, “The brochure is an excellent starting point to create awareness, however, The Daniel Jordan Fiddle Foundation and I recommend that individuals and families discuss their questions and concerns with their own physician.”
The creation and dissemination of Autism, Epilepsy & Seizures: How to Recognize the Signs and Basic First Aid When You Do is an important step forward in fostering community awareness about the co-condition of Autism and Epilepsy. Ongoing research is still needed as to the causes and prevention of epilepsy in autism. In the meantime, there are medical options available to avert tragic outcomes and these specific treatments should be addressed individually with one’s physician.
Dr. Ruth Nass is a Pediatric Neurologist at the NYU Child Study Center. She is a Professor of Child Neurology, Child and Adolescent Psychiatry, and Pediatrics at the NYU School of Medicine. She specializes in autism and other developmental disorders and is particularly interested in the causes of epilepsy in autism and the management of epilepsy in autistic children. Dr. Nass also does clinical research and has published over 100 papers and chapters.
Linda Walder Fiddle, Esq. is the Founder and Executive Director of The Daniel Jordan Fiddle Foundation, a national autism organization focused on developing, advocating for and funding The Daniel Jordan Fiddle Foundation Signature Programs that provide innovative ways for adults living with autism to participate in and contribute to community life. Ms. Walder Fiddle is a prominent advocate on the national and state levels and has received numerous awards in recognition of her efforts on behalf of the autism community. For more information visit: www.djfiddlefoundation.org.