Thu, 11/10/2016 - 06:58 Last revised by Ann Chang on Wed, 12/07/2016 - 09:49.
We put together a quick “abstract” in scientific journal format that you can read below to summarize some of the early findings.
This summary is certainly not complete-- we will share all of the data with you (and ask for your comments) in the coming weeks.
We realized in going over the initial results that while we have really important and interesting data here, we want to be sure it is complete as possible. Early in October, we sent out an email to those registered in the database with incomplete profiles in an effort to be sure each participant is accurately (and fully) represented.
We are now in the process of re-analyzing the data with the new entries obtained. This will result in the culmination of more than two years of work by you and the JSRDF, and the first publication by the JS community, for the JS community ever!
We are excited to show you the completed results in the coming weeks and to get your input to help us put together a manuscript that is representative of the JS community.
~The Joubert Syndrome Mosaic research team
A PATIENT-CENTERED STUDY OF THE DIAGNOSIS AND CLINICAL CHARACTERISTICS OF JOUBERT SYNDROME
Purpose of Study Joubert syndrome is a rare multisystem genetic disorder with a characteristic posterior fossa brain malformation. Information regarding the clinical course is limited, and clinical guidelines are lacking. We sought to identify early diagnostic features and characterize the clinical manifestations of Joubert syndrome as reported by affected families.
Methods Used Using the crowd-sourcing platform Mosaic, families proposed research topics and researchers, providers and caregivers collaborated to define study aims based on response commonalities. Data points for extraction were decided upon and included method of diagnosis, and early (first year of life) and general clinical and behavioral symptoms. Parent reported retrospective data were then obtained from 288 participants (median age at collection 6.4 years) in the Joubert Syndrome and Related Disorders Foundation patient database.
Summary of Results Mean age at diagnosis was 33 months (range 0-18 years). The majority of diagnoses were made via a combination of MRI findings and clinical features, while genetic testing was a component of diagnosis in just 12.5%. Only 5 had a prenatal diagnosis. The most common early symptoms included breathing issues (64%), kidney problems (18%), and retinal abnormalities (10%). Liver problems and seizures were rarely reported before one year. The most common symptoms overall were low tone (93%), eye problems (85%), sensory (76%) and behavioral (55%) issues and abnormal breathing (55%). Communication issues were reported in 78%, of whom 36% were non-verbal. The median age of sitting and walking was 13–16 months and 3 years respectively.
Conclusions Our study provides valuable patient-centered insight into the diagnostic, clinical and behavioral characteristics of Joubert syndrome. Educational initiatives focused on early symptoms and characteristic signs on prenatal imaging, combined with increased utilization of genetic testing may facilitate earlier diagnosis and intervention while minimizing parental anxiety and overall cost.