Thursday, July 31, 2014

Sensory and Autism - Differences in Brain Wiring

Today is a good day for research results. Here is a science digest synopsis of research showing that sensory and autism issues can be distinguished from each other using MRI DTI techniques. The entire article is open access and can be found here.

Food Intolerances; Brain Inflammation

Autism Speaks Science Digest is a great source for keeping track of research findings that affect the day-to-day lives of parents of children with autism. This issue had two interesting articles I'd like to share with you. The first talks about food intolerances and behaviors. The second is about brain inflammation and autism.

You can subscribe to the digest to an email version that shows up twice a month in your mailbox.


1. Food and intolerances:

2. Inflammation:

Tuesday, February 4, 2014

Big News: A Breakthrough in Autism

Big, big news about autism from a very important article, published in Nature, by Wittkowski, et al. The open-access article (you can read it for free!) is a look at the genetics of autism both in terms of finding genetics patterns and in identifying the specific outcomes of those patterns. The authors describe origins of symptoms, cite risk factors, and make important recommendations for very early intervention both with drugs and with lifestyle changes. If you start on page 12 with the discussion, you can avoid the genetics discussions and get to the meat of the paper.
From Rockefeller University, the institute that showed that genes are structurally composed of DNA, comes a statistical approach to looking for the gene groupings that makeup autism. Instead of looking for individual genes shared by children with autism, as past studies have done, Wittkowski, et al, looked for groups of genes; and they did this in large population samples collected from other studies. Using their findings, they proposed a theory outlining the causes of autistic symptoms as well as suggesting drugs and other interventions that can ameliorate those symptoms.

To help identify the groups, they focused on children with epilepsy, a disorder with high co-morbidity with autism and the known problem of the calcium ion channels (which I will not go into here). They contrasted groups of children with and without autism and with particular etiology symptoms and severity of autism. Notably, they were able to pick out the population of children who appear to be developing normally, but who at 24 months begin to regress. They also picked out other sub-populations of autism. They were also able to map severity of symptoms with genetic makeup.

Their findings are consistent with the theory that "increased brain volume, brain connectivity, and skeletal growth correlate with severity of symptoms and suggest impaired inhibition of neuronal growth." They conclude that "ASD is in large part a neurodevelopmental disease ... with symptoms emerging gradually over the first 18 months of life.

Once they identified the gene clusters, they were able to identify the physiological issues and to formulate a theory about the causes of social symptoms of autism.

The authors point out that the very young child with autism is hyper-sensory sensitivity to urban sounds and the ever-present TV and is also  overwhelmed with too much social-stimulation from care-givers and preschools. That child is unable to process this rich sensory information and as a result, will avoid eye contact and social scenes. Wittkowski says that social avoidance "leads to underutilization of cortical regions responsible for language and social interaction, which are then pruned ("you don't use it - you lose it").

There is an informative flow chart of the process of accumulating symptoms that is worth viewing. It points out the risk factors and the methods for countering early symptoms and thus changing the outcomes of autism within the first two years of life.

Here are the authors' recommendations:
A shift in focus may be required from intervention in school aged children to early prevention (using medication) starting around 12 months of age, during which time children shape and refine their neural circuitry in response to social stimuli. ...although the American Academy of Pediatrics’ recommendation against television in children under the age of two years stems from studies in a more general population of children, unfavorable neurodevelopmental and behavioral outcomes in children with ASD might be even more compounded by early media exposure. Furthermore, early behavioral and educational interventions may need to favor personnel familiar to the child.
 Drugs that target ion channels may decrease hyper-excitation to a level where a child does not feel the need to withdraw from social interaction.
The bottom line of the article is we may be able to seriously change the outcomes of autism.
And as a reminder, here is a link to Autism Speaks' list of early signs of autism.) It is clear that we need to identify children VERY early. 
K M Wittkowski, V Sonakya, B Bigio, M K Tonn, F Shic, M Ascano, C Nasca, G Gold-Von Simson. A novel computational biostatistics approach implies impaired dephosphorylation of growth factor receptors as associated with severity of autism. Translational Psychiatry, 2014; 4 (1): e354

Sunday, January 12, 2014

New Materials from CDC on Autism

There are a few new items worth checking out on the autism page of the Center for Disease Control (CDC).

**  Autism Case Training is a program to train health practitioners in "identifying, diagnosing, and managing autism spectrum disorders through real life scenarios." There are 5 training segments with lessons, videos and printable handouts. What I like best is the series of back-to-back videos showing development and behaviors of typical children versus that of children with autism. The training program was developed with pediatricians in mind, but it is valuable for others working with children with ASD.

**  The CDC's Seed II Study is conducting a large, multi-state study of the risk factors in autism and developmental delays. The study focuses on the differences in children ages 2-5 with and without autism. It looks at environmental factors, genetics and physiological data including saliva, blood samples and bowel activity.

** A report on the state of autism based on the large study that the CDC conducted in 2008 is also available.