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Dr. Stanley Nelson, Professor of Human Genetics at the David Geffen School of Medicine at the University of California, Los Angeles, discusses his study of the DuchenneConnect data. His research focused on analyzing the registry data from the start of the registry in 2007 through June, 2011. His research team investigated several associations, including associations between corticosteroid use, supplement use, and ambulation, and they have some very interesting results to share.

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Comment by Ivy Scherbarth on May 2, 2012 at 12:05pm

Awesome! I am so glad that I was able to participate via this link, albeit after the live presentation. DuchenneConnect is so important.

I would love to see DuchenneConnect add a little bit of social science, so that we can have some quality-of-life measurement. Perhaps a few questions about:

1. Does the affected person have a concurrent cognitive and/or psychological diagnosis, such as autism or depression? Of what duration? What treatments have been/are being pursued?

2. A little info about the affected person's relationships, such as:

--Does he have a best friend? Any close friends? How much time does he spend with friends? Duration of these relationships.

--Does he have a significant other? Married? Duration of relationship(s). Could we even ask about sexuality here?

3. Does the affected person have a job? Full time/part time? Duration? What kind of job is it?

My goals in asking these questions would be to try to use the data to do a little bit of quantity vs. quality of life research. I think that many of us desperately want to know the relationship between steroids (and the quantity they represent) and quality of life measurements.

Some more side effect data would be great too. For example, adding in data on BMI/obesity as associated with steroids, and age of puberty.

So grateful for all the hard working people who are studying our families! The more we know, the better we can serve our community and, most especially, our children.


Staff
Comment by Ann Martin on May 2, 2012 at 1:32pm

Thank you Ivy for your thoughtful comments.  We are in the process of revising our Profile Survey, so we will take your suggestions into consideration.  We do currently have a section on Behavior & Learning that we are planning to expand, but we don't have any questions regarding social/relationship/job issues.  That would be very interesting to collect.  It is difficult to balance what we want to include versus keeping the survey as simple and easy as possible.  We would love to add many, many more questions into our survey, but we worry that if it is too lengthy parents will not complete it and probably not update it either.  Thank you again for your great comments!   

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