Fasten your seat-belts, parents of autistic individuals, 2013 is going to be a bumpy ride.
Medical researchers from both esteemed institutions and alternative approaches have announced study results that have alternately encouraged, confused and disappointed parents of children identified within the autism spectrum. The point of much of the research to date is to identify clear cut causes, as well as treatments to mitigate symptoms.
Three new studies released this week exemplify the roller-coaster ride. Autism Spectrum Disorder (ASD) rates and diagnoses have increased dramatically as has its share of research dollars. In the eight years between 2000 and 2008, the Centers for Disease Control and Prevention (CDC) reported autism rates jumping from 1 in 150 births to 1 in 88 births.
The first study, published today in the Journal of Child Psychology and Psychiatry, follows a small group of autistic individuals who had developed to the point of "optimal outcome" (OO), meaning they no longer fit the diagnosis of being within the autism spectrum and now "demonstrate an overall level of functioning within normal limits for this group". The study is careful to avoid the use of the word "recovery" for several reasons, including the fact they can't prove without a doubt that these children were properly diagnosed in the first place. Autism is considered a spectrum diagnosis because it is base on observable symptoms and not well identified causes. This study supports a larger study published a year ago in the journal Pediatrics that reviewed the cases of 1,300 children with a past or current diagnosis of autism. According to WebMD, "about one-third of the kids in the survey had once been diagnosed with autism but were no longer considered to have the condition." The researchers posited that a child's ability to "outgrow" his autism may be related to how many other medical, physical and psychological issues presented when they were first diagnosed.
The second study, which is a shocker, comes from Massachusetts General Hospital who announced that what we previously considered one of the brain functioning strengths of autistic individuals doesn't actually exist. The Martinos Center for Biomedical Imaging at Massachusetts General Hospital (MGH) discovered that the "local functional connectivity of the brain" among young autistic men was not as well-coordinated as it was for young men with "typical neurodevelopment". They also studied long-range connectivity, expecting to find that those with "typical neurodevelopment" would out-perform those diagnosed with ASD, which they did. They used magnetoencephalography (MEG), an "imaging technique that detects the location as well as the timing of brain activity with high precision" to measure local communication within small areas of the brain.
The co-author explains it beautifully using the analogy of an orchestra:
"Functional connectivity reflects connections that actually play a role in the processing of information in the cortex," says Tal Kenet, PhD, of the Martinos Center, corresponding author of the study appearing in PNAS Online Early Edition. "Imagine the brain is like an orchestra. When the violins are coordinated with the woodwinds and the trumpets with the violas, the orchestra will play in harmony – that's a version of long-range connectivity. Local functional connectivity is like focusing on the violins and whether they are all playing together.
"What has commonly been believed about autism is that the 'orchestra' isn't very well coordinated between sections but that the 'instruments' within sections were highly coordinated with each other, as though they were playing their own tune independent of the rest of the orchestra. We found that the opposite is true and that even the timing within sections is off. It's like each violin is playing independently from not only the rest of the orchestra but from all the other violins."
However, it must be noted that this is a tiny study – 17 young men diagnosed with an ASD and 20 volunteers with typical neurodevelopmental histories – plus the items that were used may affect the results – pictures of "faces with neutral expressions, faces with emotional expression – angry or fearful – and as a control, images of houses."
According to the third study, published this week in the science journal Plos One, 25 additional copy number variations (CNVs)—missing or duplicated stretches of DNA—have been identified that occur in some patients with autism. Each of these CNVs are exceedingly rare but they are considered "high impact", meaning they may greatly increase an individual's risk for autism. This study was a joint project amongst genetic researchers from the Center for Applied Genomics at The Children's Hospital of Philadelphia and Department of Human Genetics, University of Utah, amongst others.
In her annual letter to supporters, Geraldine Dawson, the Chief Science Officer of AustismSpeaks.org notes that 2012 was an extraordinary year in Autism Spectrum research and lists the Top Ten Autism Research Advances of 2012 as being:
(Order does not imply relative importance. Links are provided by Autism Speaks.)
In addition, patient activist groups and alternative therapy advocates have suggested many causes of ASD that are not yet supported by double-blind clinical studies. Since medical research typically moves at a snail’s pace, out of a necessary caution to avoid “bad science” and identifying coincidences as causal relationships, anecdotal data from parents is rife on internet sites. We are not suggesting any of these potential causes for autism are incorrect, just that they haven’t been proven valid, yet. Parents need to decide for themselves. Theories and therapies have ranged from immunization or antibiotic reactions, to food allergies or sensitivities, to misdiagnosed Lyme Disease to household or environmental chemical exposures. The National Autism Association lists many of these on their website.
To learn more about Autism Spectrum Disorder, visit: