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Monday, February 6, 2017

70) Over-expression of oxytocin= William's Syndrome

Poor Sasha is home sick with a stomach bug today.  While he naps, I peruse the internet for interesting articles.  I am preparing to finish up a paper on the phenomenon of compulsive acquiring of non-food items and HO (particularly in association with the hyperphagic component of HO) in craniopharyngioma.  As I read up on the various connections between oxytocin, social impairment, PWS, autism, compulsive behaviors, hyperphagia, etc. etc., I stumble upon an absolutely fascinating syndrome (William's Syndrome).  This is a rare genetic disorder in which oxytocin is over-expressed.  I learn from my reading that it is characterized by medical problems, including cardiovascular disease, developmental delays, and learning disabilities.  Most people with WS have an average IQ of 69 (70 is considered two standard deviations below the normal 100 IQ).  However, people with WS have an extraordinary command of language (with respect to their IQ) AND impressive social motivation (friendliness).  Here are some articles I found on William's Syndrome:

A (non-academic) story about WS printed in the New York Times Magazine:
http://www.nytimes.com/2007/07/08/magazine/08sociability-t.html

An article about WS from the Salk Institute newsletter:
http://www.salk.edu/news-release/trust-hormone-oxytocin-found-at-heart-of-rare-genetic-disorder/

And for you diehard scientists, here are some academic papers on WS:
1. http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0038513
2. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4330921/

Finally, a very interesting paper on two mirror-image genetic disorders: PWS and WS
5. PWS and Williams Syndrome: http://www.aaiddjournals.org/doi/pdf/10.1352/0895-8017%281999%29104%3C0158%3ARBPPIW%3E2.0.CO%3B2

As I read these papers, I am intrigued by what we can learn from studying various disorders and from multiple angles... We can see how oxytocin deficiency may be expressed by the overlapping phenotypic behaviors among syndromes/disorders including PWS and autism.  Both disorders may exhibit symptoms including repetitive and restrictive behaviors, self-injurious behaviors, language impairment, and communication difficulties (among others). Those with PWS and craniopharyngioma (called "acquired PWS" in the PWS community) share some common phenotypic traits including obesity/hyperphagia, hypogonadism, growth hormone deficiency, and compulsive behaviors. The social impairment or lack of social motivation observed in craniopharyngioma survivors is another behavior that is shared by those with PWS and autism and is likely a result (or at least correlated with) oxytocin deficiency.

What can we learn from William's Syndrome then?  Personally, I find it very interesting that the over-expression of oxytocin is implicated for the high level of friendliness/sociability and language abilities among these folks.  Maybe William's Syndrome and its over-expression of oxytocin can provide more evidence about the important role of oxytocin in social motivation and teach us more about those disorders which under-express oxytocin.


1 comment:

  1. Please email, txt or call me. darylrue@gmail.com 402-519-4022. I am father of 22 yo with HO. I started holist@yahoogroups.com years ago. I am going to endo with ocytocin request. Thank you for your contribution to fighting this medical condition. daryl rue

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