JS-LIFE Research Challenge

What are your questions on diagnosing and treating Joubert Syndrome?

Ann Chang's picture
Discussion Topic Status: 
Open for Discussion

Ideas:

  • What are unanswered questions about how children and adults are diagnosed?
  • What are concerns about current treatment options?

 

Comments

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Elisabeth Sinthavong's picture

ENT, plastic surgery, nephrology, GI, optholomolgy. 9 year old. 

Nephrology is primary. 

Dean Suhr's picture

I am not familiar with the subtly of Joubert syndrome ...

I've seen several comments asking to know more about the progression and expectations.  At the NLM I found "Mutations in the 10 genes known to be associated with Joubert syndrome and related disorders only account for about half of all cases of these conditions. In the remaining cases, the genetic cause is unknown."  10 genes can result in a lot of different mutations.

Just as in my disease, it might be worthwhile to consider a geneotype/phenotype correlation study that would hopefully lead to some of the genotypes having stronger correaltions with some phenotypes ... and probably a lot more where there is not enough data to draw any conlusion until there is more data.  This study has direct patient/participant benefit and should help to draw people into the study.    

Joshua Bear's picture

Hi Dean, thanks for your thoughts. I agree that a better understanding of the genotype/phenotype relationship would be useful. One of the challenges is that there seems to be a fair amount of phenotypic variation even with the same gene differences, suggesting that it is a more complicated interplay of different genes. Nonetheless if there are enough individuals in the JS Life project with genotype data available, we might be able to expand on the understanding some. 

Karen Tompkins's picture

My daughter with Joubert Syndrome (C22D2A) , Erin, will soon be 22.  I have often thought that her body works very hard to breathe, walk, etc.  Erin has recently had an increase in BP and pulse (98+ at rest).  

My inquiry would be: Does the combination of low tone, apnea, cerebellar insults, etc increase the risk of pulmonary disease at an earlier age than average.

Maura Ruzhnikov's picture

Hi Karen, 

 

I think your question could be answered using our database in a manner similar to those asking about liver involvement in some of the comments above. By recording the most common medical complications (pulmonary disease included); we could then look at what additional factors each patient had; ie, are there certain characteristics about those with more prominent pulmonary disease that we could pick up on early on? 

Dana Knutzen's picture

There has been some conversation regarding increasing provider education about Joubert syndrome.  I would be interested in knowing from parents/caregivers, what would be the best way to increase provider education?  Written materials, websites, videos, conferences, seminars, etc? What type of information should be included?

Susan Friedman's picture

Everything that you mentioned would be useful. Providers are totally clueless. I believe that inviting providers to the Joubert Community events would be very useful and educational for them. Most have NEVER met Joubert's families. An open forum between providers unfamiliar with Joubert's and families would be more than helpful.

I know that it could be expensive but, a DVD could be mailed out to these providers - a short movie if you will, on Joubert Syndrome and it's related disorders.Pamphlets could also be included with the DVD. Medical schools should include these materials and make them part of the curriculum. Pharmaceutical companies mail out material on their products to physician's all of the time - why not do this too? 

Invitations to Joubert's events should also include senators, congressmen etc. and maybe the pharmaceutical industry too??  Larger entities need to get involved in this cause - corporations?

Perhaps the media could also be utilized - well known actors doing TV commercials, magazine articles, radio interviews and TV interviews on the subject.  Alot of providers attend "boot camps" periodically for their particular profession. Maybe this mindset could also be used in the future within the Joubert's community

Louise Dove's picture

My son, Zak is 11.  He was diagnosed at 4 1/2.  We were literally handed a diagnoses of JS then told to have a nice day.  We had no one to guide us, answer our questions etc. Thankfully I found the JS group on Facebook which led us to the research study at NIH.  We did learn more there, but once we got back home we have been left to our own devices.  We don't know of any doctors in our area who know anything about JS.  I would love a comprehensive list of doctors in the country who are familiar with JS so we would know where to go to get help.  

Melissa Asman's picture

Regarding current treatment options for behavior issues

cataloging behaviors among JS kids vs developmentally delayed children in general to see if there are patterns our kids exhibit

For example:  our OT says that several of my daughter's behaviors are things all DD kids have trouble with, like inability to wait or having to be instructed over and over and over again not to do things that may cause harm to herself ( or others). Note that the last one assumes the child has the cognitive ability to understand.  However she also exhibits a head twist that I've noticed in several JS kids but not in other DD kids (classmates). 

Having a JS typical list of behaviors would not only be helpful to parents but might also point to which areas of the brain/ nervous system are affected beyond the cerebellum and what medications might supply some relief.

Plus, it is always good to include the "extended phenotype" in diagnoses.

 

 

 

Susan Friedman's picture

More information is needed about treatments and interventions for gastro issues including but not limited to allergies to both food and environment, nephrology issues, behavioral issues, vison issues and severe sensory issues. All of these definately have an impact on individual lives as well as, families, caregivers, educators, physicians, etc.

Again, because this disorder manifests in so many different ways within various individuals, it makes it almost impossible to achieve a consistent study for treatment and intervention.  You would have to categorize individuals in subgroupings (according to manifestation) and then look at their issues for specific treatment - a daunting task at best.

taka's picture

My son  was diagnosed joubert syndorome last summer.

He has  breath ploblem,abnomal eye,and molar tooth sign.

But he is no low mustle tone.He is not good at mustle control.

Do you know  such a case?

 

 

 

 

 

 

Dana Knutzen's picture

Hi Taka,

Welcome to the Joubert syndrome community!  What you are describing in your son are the main features found in Joubert syndrome.  Breathing problems are common in young children although many tend to not have these problems as much as they get older.  Eye problems are also common as well as low muscle tone (hypotonia).  I would say that based on what you have written, your son has many of the features we see in children with Joubert syndrome.  I hope that your son's doctors are helping him get the therapies that he needs.  Therapy is a great way for children with Joubert syndrome to gain more muscle tone and reach milestones.  If you haven't already, please also be sure to reach out to the Joubert Syndrome Foundation (www.jsrdf.org) for support and further information.  Thank you so much for sharing your story here in Mosaic!

taka's picture

Hi Dana.

Thank you.My son gets the therapy.

Ⅰ did not find children with joubert syndorome like my son .

Almost children with jouber syndorome have  low mustle ton.

Ⅰhope my son can walk someday.

 

 

 

 

 

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