Posted on

In partial praise of the DSM5

Podcast: Play in new window | Download

Subscribe: RSS

While much work needs to be done to include individual abilities and disabilities into the DSM5, after the CDC prevalence numbers were published last month, it became clear the old DSMIV was not working.  In a replication of a previous finding, it showed that the DSMIV categories of Aspergers, PDDNOS and autistic disorder were just not being use consistently across states, and left the interpretation of those diagnoses somewhat meaningless.  While DSM5 is a step in the right direction, more work needs to be done to ensure everyone is receiving the most specific diagnosis possible, and getting the services they need.

Posted on

The sticky subject of cost effectiveness

Podcast: Play in new window | Download

Subscribe: RSS

In a perfect world, money would not matter.  But in this world, it does, and a dollar spent on one thing in the clinic by families, society and insurance companies means a dollar not spent somewhere else.  Therefore, studies on cost effectiveness need to be conducted to determine how resources may be best used.  In this podcast, Dr. Tracy Yuen of University of Toronto explains two different analyses which looked at 1) universal screening for ASD and 2) use of genomic sequencing to identify novel variants in people with ASD.  Thank you to Dr. Yuen for explaining the process behind this and these intriguing findings.  You’ll have to listen to find out what they are.

 

https://www.ncbi.nlm.nih.gov/pubmed/29651777

 

https://www.ncbi.nlm.nih.gov/pubmed/29644584

Posted on

A sampling of science from the International Meeting of Autism Research

Podcast: Play in new window | Download

Subscribe: RSS

In case you didn’t have time to jump on a plane and fly to the Netherlands last week for the International Society of Autism Research meeting, this week’s podcast is a short summary of just a few of the presentations.  There was more of an emphasis on what has been called “real life” research questions like employment, quality of life, and relationships.  As a result, some of the more basic science questions around autism are now being presented at other meetings.  This is a shame.   This podcast follows some of those basic science questions to the now translational opportunities that were presented at the meeting.  It also highlights some newer findings that will provide help to people at all ages who need supports and services.

Posted on

Where the wild new genetic hot spots are

Podcast: Play in new window | Download

Subscribe: RSS

Three new studies, all with the common element of inclusion of ASF postdoctoral fellowships as authors, appeared this week using whole genome sequencing technologies to look at new areas of the genome.  Not just new genes, but totally unexplored ares of DNA that were only possible to examine through these newer technologies.  They are called regulatory non-coding regions, because they regulate genes known to be associated with autism – but don’t code for any proteins.  Interestingly enough, they are carried by the unaffected father.  As one of the authors on the studies and guest on this podcast, William Brandler explains, they regulate genes, they don’t cause autism, otherwise the non-affected fathers would not be non-affected.  Another ASF fellow, Donna Werling, published an analysis which called for careful consideration of the statistics around these findings.  After all, this is a relatively unexplored territory.

 

https://www.ncbi.nlm.nih.gov/pubmed/29674594

https://www.ncbi.nlm.nih.gov/pubmed/29703944

https://www.ncbi.nlm.nih.gov/pubmed/29700473