Starting a National Dialogue on Finding Children with Usher Syndrome

Posted on January 18, 2017


Nancy O’Donnell, Director, USH Trust Registry, Usher Syndrome Coalition     

In 2015, I was hired by the Usher Syndrome Coalition to manage their international Usher Syndrome Registry, now known as the USH Trust. The USH Trust is a simple database of individuals of all ages and with all types of Usher syndrome. It was created because researchers told us that, although they could definitely investigate treatments and probably find a cure for Retinitis Pigmentosa (RP) associated with Usher, their research was jeopardized because they could not find enough individuals to participate in clinical trials.

No trials, no treatments, no cure. For me, this was the first time I asked the question (just to myself), “Where is everybody?”

Outreach is part of my job, so a natural place to start looking for answers was with the younger generation of families with children with Usher syndrome. I took a peek at NCDB’s annual child count.

Q: In December, 2015, how many children were reported in NCDB’s Child Count of Children (0-21) who are Deaf-Blind?
A: 9574

Q: Of those, how many were reported with Usher syndrome as the primary etiology?
A: 295

(Is it me or does that number seem very, very low?)

There are reasons, of course, why this number is low and we’ll address those in the webinar. But I still have to wonder…how many kids are there with Usher syndrome in the United States?

I went back to our USH Trust to check how many children, birth to 21, we have registered: 180.  Even lower.

I then decided to take a shot at calculating how many kids should, according to researchers’ estimates of prevalence, have Usher syndrome. I’ll share my results in the webinar. (Hint: It’s more than 295.)

Usher syndrome is a rare disease, but not as rare as these numbers would lead us to believe. There is a large community of individuals, and parents of children with Usher syndrome, who want to connect, who want information and support. Together, we can do that.

Recently, questions have been asked about the possibility that other diseases might be connected to Usher syndrome. With a robust registry, these questions can be asked and answered quickly.

Information. Education. Research. Support. Treatments. Cure.

Young families and children have a lifetime to benefit from these resources, if we can only find them.

I hope you’ll join us for the webinar on Wednesday, January 25, at noon PST.  

Details about connecting to the webinar can be found on the webinar event page.

Comments (9)

Thanks, Mark for being the data nerd that you are. The information you provided above is very helpful! The Usher Syndrome Coalition is looking for ways to better inform the medical community and health professionals in general. Also, NCDB's own Megan Cote will be presenting an USH Talk in the early spring about all of the services and supports available to school age kids with Usher syndrome and their families. We are very excited to be working with NCDB and look forward to being able to answer our question, "Where is Everybody?"

Nancy  O'Donnell

Posted Feb 6, 2017 by Nancy O'Donnell

Thanks for the link on the webinar recording, Gail.

Marites Altuna

Posted Jan 26, 2017 by Marites Altuna

Thanks, Mark. This is impressive! I am wondering if some of what you found, numbers of kids identified with hearing loss showing up later identified with progressive vision loss, isn't what drove the efforts of state db projects to do Usher screening a few years back. Also, here is the link to the webinar recording and it also includes the USH flyer with links to their website and facebook.

Gail Leslie

Posted Jan 26, 2017 by Gail Leslie


Thank you so much for today. The webinar today was compelling. Where are the children and youth with Usher syndrome? Why are we missing so many of them?

As Nancy pointed out there are many possible reasons why we are missing so many. Being the “data nerd” that I am, I have done some “data mining” to see if the deaf-blind child count data might confirm these potential reasons.

I first identified all of the individuals on the deaf-blind child count over the past 5 years with Usher Syndrome. I found 551 individuals who had been on the deaf-blind child count at some time over the past 5 years. I then searched out all of the newly identified individuals on the deaf-blind child count over the past 5 years with Usher Syndrome. During the time period from 2011 – 2015, there were 256 individuals added to the deaf-blind child count with Usher syndrome (Types I, II and III).

Here are some of the things that I found out about these 256 individuals.

• These individuals were from 42 of the 54 states and territories
• The average age at the time they were added was 15 years of age
• The majority (53%) were identified as having a profound hearing loss
• The majority (54%) were identified as having a diagnosed progressive vision loss
• 45% had a cochlear implant
• 44% had a Part B disability category of deaf-hard of hearing (hearing impairment) while only 25% were categorized as deaf-blind (fairly high actually).
• A number of these individuals came on the child count and then exited again during this 5 year period, usually because they were 18-20 when they were first added.

While 60% of these individuals first coming on the deaf-blind child count had a profound or severe hearing loss, the majority (54%) come with a documented vision loss as a "diagnosed progressive vision loss". That is, vision might not have been identified as a problem yet by the school.

Consistent with this, the broader system of special education categorized nearly half these individuals (44%) as being deaf or hard of hearing/hearing impaired. Again, vision issues may not have been recognized yet. Further, nearly half of these newly identified individuals (45%) had a cochlear implant at the time they were first identified and could have had some hearing.

All of these issues lead to the average age of these individuals first coming on the child count being 15 years of age. The median age is 12, twice as old as all newly identified kids. While there are young children being identified and included on the deaf-blind child count, typically they are being identified in middle or high school. In fact one in ten was 18 years of age or older when they first appeared on the deaf-blind child count.

So, can we use any of this information to find more kids? Maybe. These issues are not dissimilar to the issues of identifying and referring very young infants and toddlers. We have learned quite a bit about strategies we can use finding young kids. Some of these might very well be applied to find individuals with Usher Syndrome.

Mark Schalock

Posted Jan 25, 2017 by Mark Schalock

I'm not able to participate in the webinar but am very interested in this webinar and look forward to viewing the recording and to follow up conversations!

Emma Nelson

Posted Jan 24, 2017 by Emma Nelson

This sounds wonderful.

Casandra  Xavier

Posted Jan 20, 2017 by Casandra Xavier

Looking forward to it Nancy !

Mike Fagbemi

Posted Jan 20, 2017 by Mike Fagbemi

Dawn, information about the webinar can be found at this webinar event link:

Yes, it will be recorded and available from the NCDB library at this link:

Gail Leslie

Posted Jan 19, 2017 by Gail Leslie

When is the webinar and will it be recorded for future access?

Dawn  Adams

Posted Jan 19, 2017 by Dawn Adams

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