Standing before the audience at the New York State Autism Consortium Meeting for Proposed Tissue Collaboration in March, Judith Omidvaran relayed the events that changed her life nearly four years ago. Judith and her husband were the parents of Sina, a 29 year old young man with high functioning autism and epilepsy. Sina had endured previous seizures, but this one took him from his loving parents forever. Reflecting back on that day, now seared into her memory, Judith recalled making a very important and lasting choice. Sina was gone from their everyday lives but she and her husband could donate his brain tissue. In that moment the grieving parents chose to make a lasting contribution to autism research and provide hope for a greater understanding of the lives and all too often untimely deaths of individuals with ASD.
Sudden, unexplained death related to epilepsy (SUDEP) is a most uncomfortable topic, but also a very important one. A new study led by members of Autism Speaks’ staff and published in the Journal of Child Neurology revealed that individuals with ASD who also have a seizure disorder have a risk of death that is eight times greater those with ASD and no seizure disorder. Seizures are not always evident at the time of diagnosis of ASD, and often begin to manifest in adolescence. The difficulties of living with a chronic developmental disorder would seem to be enough, without the weight of worry that these statistics convey. However, one cannot be forearmed if not forewarned.
The release of these data may have been disturbing to some members of the autism community.
Roger Dunlap III was diagnosed with autism at three, and his parents went through the all preparations of caring for the lifelong needs of a child with special needs. Young Roger’s parents, Roger and Heather, began an organization to support the long term care of Roger and others who shared his challenges when these children would need support after their parents had passed. In a twist of cruel irony, young Roger died unexpectedly in his sleep at 9 years old. He was never diagnosed with epilepsy and the exact cause of death remains unknown. The Dunlaps also made an important choice at a difficult time. Their involvement in the autism community connected them with the Autism Tissue Program and they got a call about donation soon after young Roger’s passing. They have continued their remarkable support for the autism community both through their own organization and Autism Speaks.
At this point, however, our understanding of sudden death in autism and epilepsy is poor. An analysis of data on deaths from the California Department of Developmental Services reveal that the cause of death is unknown in 40% of cases. This particular area is one that the Autism Tissue Program is working to improve through detailed analyses of all donated tissue and also though a survey of ASD families who experienced a sudden death of their loved one with ASD .
Autism Speaks, in partnership with the International League Against Epilepsy (ILAE) and Citizens United for Research in Epilepsy (CURE), hosted a meeting in December 2010. The meeting brought together experts in epilepsy research and autism to discuss areas of greatest need and priority in research. The seven key points they developed include:
1) Identifying infants with seizures at risk for autism and those with autism at risk for epilepsy.
2) Identifying risk factors common to autism and epilepsy.
3) Developing new tools to effectively evaluate data specific to epilepsy and autism.
4) Identify and develop animal models, biomarkers and assessment tools that inform outcome in infants with epilepsy that go on to develop autism and infants with autism that go on to develop epilepsy.
5) Explore the underlying mechanisms of convergence between autism and epilepsy.
6) Coordinate tissue and brain banking efforts in epilepsy and autism.
7) Develop behavioral and pharmacological treatment models and methods in infants with epilepsy and autism (or with one and at risk for the other).
These aims are indeed important for taking the next research steps, however, the fortitude of parents in a time of crisis may be the greatest contribution toward advancing our understanding of sudden death in epilepsy and autism. If you wish to learn more about the Autism Tissue Program, or want to share a story and participate in a survey about sudden unexpected death of a family member with ASD, please go to their website for more information or email email@example.com.
Read the press release on the Journal of Child Neurology publication here.