Mon, 07/13/2015 - 08:08 Last revised by Ann Chang on Wed, 07/15/2015 - 15:14.
Study Aims and Significance
Joubert syndrome (JS) is a rare genetic disorder characterized by a specific brain malformation, low muscle tone and intellectual disability. It may also affect other organs including the eyes, kidneys, and liver. Although estimated to occur in every 1/80,000 to 1/100,000 births, JS is likely more common due to overlapping features with other disorders affecting brain development. JS is often diagnosed after a long and costly search for an answer for families of affected children. Once diagnosed, there is limited information about the clinical course of the disorder and health care guidelines are outdated.
In order to better inform providers and families, we want to identify the early diagnostic features of JS while redefining the spectrum of clinical symptoms. Information will be gathered from the Joubert Syndrome and Related Disorders Foundation (JSRDF) patient database (Joubert Syndrome Link to Information and Family Exchange (JS-LIFE)) and crowd-sourcing platform Mosaic which allows clinical researchers, providers, family members and caregivers the opportunity to share their experiences regarding JS.
Through this research study we aim to provide guidelines for early diagnosis and screening as well as annual management recommendations to allow for the best possible developmental and health outcomes.
Aim 1 To identify early diagnostic features of Joubert syndrome.
JS is currently a clinical diagnosis based on MRI findings (the Molar Tooth Sign) and accompanying clinical features. Advances in technology have also led to the identification of mutations in several genes associated with JS. We will investigate how families received a diagnosis using the JSRDF information database. This study will lead to the development of updated diagnostic criteria for JS, providing early and accurate diagnoses that will impact timeliness of appropriate therapies and screening for associated health problems.
Aim 2 To characterize the clinical manifestations of Joubert syndrome
JS affects multiple organ systems to varying degrees resulting in a wide spectrum of clinical presentations. More common findings include intellectual disability and behavioral differences, retinal defects, renal and liver disease. We will investigate these symptoms, their clinical course and treatments in the JSRDF database. This study will lead to updated management guidelines documenting the frequency of screening and optimal medical and supportive care for complications associated with JS.