Related Syndromes

No Gravatar

I have written many times about this. (Here’s one of my first hints.) And, many folks looked askance or made negative comments.  But, for those who know me, that didn’t mean I would back down on my scientific hunch.  Now, there’s data to substantiate what I felt in my bones.

I am old enough to never have been classified as someone with ADHD- attention deficit hyperactive disorder.  When my oldest children were growing up, these were two separate conditions- ADD (attention deficit disorder) and HD (hyperactive children disorder).  I knew then that had such diagnoses been around, I certainly would have been labeled hyperactive.  Nah, that’s baloney- I would have been labeled ultraactive.  Hyperactive would have been so much less intense.  And, if my elementary school teachers had the chance, they’d probably have tried to label me with ADD, but I was simply bored shi…ss, which is entirely different than not paying attention.  (Of course, my time-slicing- which many errantly term mutli-tasking-  something 13% of us can truly achieve- would further confound those unable to so achieve.)

And, I recognized, as I got older, and began studying other conditions, that there was a fine line between those with Asperger’s Syndrome, a form of Autism Spectrum Disorder (ASD), and a lot of folks with whom I went to grad school.  I always thought the difference was that we found socially acceptable pathways to ‘cover’ our situations, while many of those so diagnosed did not.

Now, there’s some real research to bolster my informed opinion.  Drs. FK Satterstrom (Broad Institute- MIT & Harvard, along with his fellow researchers RK Walters, T Singh, EM Wigdor, JA Kosmicki,C Stevens, DS Palmer, JB Maller,  EB Robinson, BM Neale, and MJ Daly); plus Drs.  F Lescai, D Demontis,  J Grove, J Bybjerg-Grauholm, M Baekvad-Hansen, M Nordentoft, O Mors, DM Hougaard, TM Werge, PB Mortensen,  and AD Borglum,  (all of iPSYCH, Denmark) effected a study that they reported in Nature Neuroscience.   (These researchers comprise what is termed the iPSYCH- Broad Consortium, a psychiatric study team.)  The article, “Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants” just appeared in the journal.

While both ADHD and ASD are heritable (and for that I apologize to my children), the exact genes were not clearly identified.  But, with this study of some 8000 ‘afflicted’ and 5000 ‘normal ’ subjects, changes in the same genes were found for both conditions.  The very fact that mutations to the same extent and within the same genes among those with ASD and ADHD implies that a similar biological mechanism is involved.

The children studied were all from Denmark, and the data was culled from two resources, the Danish Neonatal Screening Biobank (DNSB) and the Danish Psychiatric Central Research Register (DPCRR).  Given that 1% of Danish schoolchildren manifest ASD and some 2-3% are diagnosed with ADHD, these blood samples would provide valuable data for those looking to study the conditions.

MAP1A gene

In mapping the genomes, the results indicated that mutations in MAP1A (microtubule-associated protein 1A) is a “critical” gene  and is the one most frequently associated with these psychiatric disorders- with very few of the control subjects manifesting the mutations.  (Actually, this gene is associated with that exome, which is a portion of the genome comprised of exons and contribute to the final protein encoded by that gene.)  This gene controls the “inner skeleton”  of nerve cells, vital for brain development.

The research indicates that studying larger population pools should help identify other genes that are additional causative agents.  And, more importantly, the entire concept should lead to methods to treat the conditions more completely.

Here’s hoping.Roy A. Ackerman, Ph.D., E.A.

 

Share this:
Share this page via Email Share this page via Stumble Upon Share this page via Digg this Share this page via Facebook Share this page via Twitter
Share

6 thoughts on “Related Syndromes”

  1. From personal experience both with family members with ADHD and with ASD, I have suspected this link for some time. So now science is finally catching up with this. This would have saved at least one family member a lot of suffering in his early life.
    Alana recently posted..Not Quite a Fairytale

Comments are closed.