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Joubert syndrome: long-term follow-up
Peter R Hodgkins1, Christopher M Harris, Fatima S Shawkat
1Great Ormond Street Hospital for Children, London, UK. peter.hodgkins@suht.swest.nhs.uk
Developmental Medicine and Child Neurology
|October 12, 2004
Summary
Joubert syndrome, a rare genetic disorder, is characterized by cerebellar vermis hypoplasia and affects multiple organs. This study details clinical findings, including vision impairment and developmental delays, in 29 patients.
Area of Science:
- Genetics
- Neurology
- Ophthalmology
Background:
- Joubert syndrome is a rare genetic disorder affecting cerebellar development.
- Key diagnostic criteria include cerebellar vermis hypoplasia, abnormal eye movements, and developmental delay.
Purpose of the Study:
- To characterize the clinical phenotype and long-term outcomes of Joubert syndrome.
- To identify common comorbidities and progression patterns in affected individuals.
Main Methods:
- Retrospective review of 29 Joubert syndrome patients diagnosed over 15 years.
- Analysis of clinical data, neuroimaging (MRI), ophthalmological assessments, and developmental assessments.
Main Results:
- Cerebellar vermis hypoplasia with 'molar tooth sign' was observed in all 22 imaged patients.
- Common findings included abnormal eye movements (100%), apnoea (72%), renal issues (28%), and visual electrophysiology abnormalities (78%).
- Developmental delays were significant, with walking onset between 22 months and 10 years, and prominent speech and behavioral issues.
Conclusions:
- Joubert syndrome presents with a spectrum of neurological and systemic manifestations.
- Ophthalmological and renal involvement are frequent comorbidities.
- Early diagnosis and multidisciplinary management are crucial for optimizing developmental outcomes.