JS-LIFE Research Challenge

Progress Update

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

Dear JSRDF Community,

Thank you for your patience as we have been preparing all of the data for research analysis.

As a reminder, the community previously helped to identify the following research aims:

  1. To identify early diagnostic features of JS
  2. To characterize clinical manifestations of JS

After organizing and reviewing all of the detailed information provided by members of the community, we have a good idea of what information is available to use to answer these questions. The next steps in producing a research paper include:

  • (1) Creating tables and filling them with the analyzed data;
  • (2) using that data to make graphics that communicate the results; and
  • (3) writing the paper explaining the data in the tables and graphics as well as any important information that did not fit or is better explained with text.

A PDF with all of the tables we are considering is attached with detailed explanations. . But we need your input! The tables below will gather data on developmental skills and sensory and behavior challenges. What do you think of these tables? Are there specific things you think should be included here? How can we make the data the most useful for you? Thank you for sharing your thoughts!

Table 4. Developmental milestone attainment among individuals with Joubert syndrome and related disorders.
Motor Skills
 4410: Sitting propped up
 4412: Sitting unassisted
 4414: Reaching for objects
 4416: Holding objects
 4418: Rolling
 4420: Purposeful locomotion
 4424: Feeding self
 4426: Standing alone
 4428: Walking with a walker
 4430: Walking without assistance
 4422: Recognizable verbal speech
Social / Adaptive
 4432: Toileting


Table 5: Individuals reporting specific sensory, feeding, and communication challenges.
4340: Types of sensory sensitivities 
 Total reporting sensory sensitivities 
 Vestibular (rock, spin, swing) 
 Texture aversion, 
 Sensitivity to loud noises 
 Prefers light OR dark room 
 Prefers heavy OR light clothing 
 Sensitive to cold or hot temperatures 
4336: Types of communications issues experienced
 Total reporting communication issues 
 Speech apraxia 
 Speech delay 
 Sign language 
 Communication device 
 Verbal with articulation errors 
4337: Feeding issues 
 Total reporting feeding issues 
 Delayed gastric emptying 
 JG tube 
 Nissen fundoplication 
 Requires thickener 
 Soft food only 


Supporting Documents: 


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Brett Elliott's picture

Thank you very much for the update. Glad to see the data is obtainable.  Just wondering if there is more data on communication than just recognizable verbal speech.   Such as competent communication via alternative communication means like sign language or AAC? If I recall correctly, in data I previously collected, less than 50% of JS children over 5 use verbal speech as their primary form of communication.  Just curious to see this information with the larger cohort of JS Life :)

Joshua Bear's picture

Hi Brett, thank you for the suggestion. The "recognizable verbal speech" milestone is the only language-related developmental milestone on which we asked individuals to provide the specific age of attainment. We do have some other information on communication methods used at the time of survey completion, however. In table 5 we mentioned the "types of communication issues experienced." We did ask in the survey what methods of communication individuals are currently using (multiple choice options included assistive communication devices, sign, pictures, etc), and we could include that in the table as well. Would that be helpful? 



Research team, see column 4386. 

Brett Elliott's picture

Yes I believe that would definitely be helpful. As sign language and communication device wouldn't technically be communication issues as much as communication solutions.  I know my own child is completely non verbal however is really becoming competent in both forms of alternate communication moving beyond simple wants and needs to social interactions and full sentence communication.  I know the data set is limited but to attempt to capture that info with what we have to work with would definitely be beneficial to portray that the cognitive level of our kids isn't as low as many reports claim they are :)

Maura Ruzhnikov's picture

This is a reply to both yours and Josh's comments Brett-- thank you for this suggestion, I like the idea of reporting what methods of communication children were using at the time of data collection; I definitely agree that demonstrating children's expressive language capabilities even if they are not primarily verbal is important One thing I noticed lookign at our available data from the database is that an initial question: "what is your preferred method of communication" appears to have been largely left unanswered, Matt, do you know if this is just an abstraction issue, or if this was just not frequently answered? It seems like this question might answer this question regarding alternative forms of communication more directly. 

Matthew Smith's picture

Thanks for the input, all, and I agree this is a great addition. I'm showing in our latest data  that 186 responses were registered for this question. In the latest data table that you likely have, Maura, there are 146 responses showing:

My preferred method(s) of communication is (are)...
Question ID: 2057
# of responses (as of 4/16/16): 146