A New (to me) Cause of Autism

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Several weeks ago, I went to Las Vegas for the first time. The duration of the visit was about 24 hours, and when I arrived at the airport for my departure back home, I had about an hour to kill before my plane boarded. I didn’t really want to engage in mindless slot-machine gambling, nor was I in any mood for a beer. My iPad was dead and I had nothing with me to read. Although the people-watching in the Vegas airport probably could have entertained me for far longer than a measly hour, I meandered over to a news stand to peruse the book section and write down any I may want to read.

One in particular stood out to me, and I am not sure why. It was by someone I had never heard of, Susannah Cahalan, and was entitled Brain On Fire: My Month of Madness. The cover described Susannah’s experience of going mad, but left the cause elusive. I scribbled the name down at the top of my list.

When I got home and downloaded the title, I started reading it and pretty much didn’t put it down until I was done. I think just about any SLP would love this book, it was almost like a real-life episode of “House” except full of neurology and cognitive testing that we are all familiar with, whether in our daily lives or in memories from grad school. I was fascinated.

Then the end came. And Autism was brought up. I cannot go on without giving MAJOR spoilers about this book, so go read it and then come back. It won’t take you long and you will probably be up all night thumbing through the pages.

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Susannah ended up being diagnosed with a newly discovered type of encephalitis: anti-NDMA-receptor autoimmune encephalitis. Her symptoms were numerous and included seizures, hallucinations, paranoia, motor difficulties and dysarthria, among many others. This particular type of encephalitis causes the immune system to attack NDMA cells in the brain, which heavily populate areas such as the hippocampus. Adults with the condition are often misdiagnosed with schizophrenia and are put in psychiatric wards. Since research on this condition is very new, true incidence/prevalence data is difficult. Susannah was given an intensive dose of pharmaceutical treatment and made almost a full recovery (this is not always the case, some die and some only partially recover lost skills).

Here’s the clincher. While adults with this condition are frequently misdiagnosed with schizophrenia, children are usually diagnosed with (you guessed it) Autism. Symptoms of anti-NDMA-receptor autoimmune encephalitis in the pediatric population include temper tantrums, mutism, hyper-sexuality, and violence.

A bigger clencher? Susannah notes that roughly 40% of patients diagnosed with this type of encephalitis are children (Cahalan, 2012, p. 424), and that the number is increasing. The doctor who finally diagnosed Susannah estimated that at that time, approximately 90% of people with the condition went undiagnosed (Cahalan, 2012, p. 427).

Before anyone gets excited, the population of children diagnosed with Autism who actually have anti-NDMA-receptor autoimmune encephalitis is most likely very, very small. Those kids (and adults), however, are out there.

In that lies the next problem: this condition is difficult (read: expensive) to diagnose. Susannah had to have a BRAIN BIOPSY before she was officially diagnosed. Allow me to quote Susannah here:

“Unfortunately, for most people suffering from severe psychiatric conditions, it’s nearly impossible to give everyone the proper testing to diagnose and treat autoimmune diseases. PET scans, CT scans, MRIs, IVIG treatment, and plasmapheresis can cost upwards of thousands of dollars each.” (Cahalan, 2012, p. 430).

Autism being related to autoimmune issues is not a new concept, and anti-NDMA-receptor autoimmune encephalitis has been added to the DSM as a medical cause for Autism (Schieveld et al., 2013).

A large-scale study was done last year that found a relationship between autoimmune disease in mothers and children with Autism (Brimberg, Sadiq, Gregerson, & Diamond 2013).  It has always been one of the biggest areas of interest in  my mind when I think about the disorder, but I am not sure this area of information is reaching affected families.

Do you have any experience or thoughts on autoimmune issues/disorders and Autism?

 

Citations:

Brimberg, L., Sadiq, A., Gregersen, P., & Diamond, B. (2013). Brain-reactive IgG correlates with autoimmunity in mothers of a child with an autism spectrum disorder. Molecular Psychiatry, 1171-1177. Retrieved October 13, 2014.

Cahalan, S. (2012). Brain on fire: My month of madness. New York: Free Press.

Schieveld, J., Wolters*, A., Blankespoor*, R., Riet, E., Vos, G., Leroy, P., & Os, J. (2013). The forthcoming DSM-5, critical care medicine, and pediatric neuropsychiatry: Which new concepts do we need? Journal of Neuropsychiatry, 25(2), 111-114. Retrieved October 13, 2014.

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