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Multidimensional Motor Phenotype Characterization in Children with Joubert Syndrome: A Cross-Sectional Cohort Study.
Łukasz Mański1, Aleksandra Moluszys1, Anna Góra1
1Gdansk Medical Academy of Applied Sciences, 80-335 Gdansk, Poland.
Journal of Clinical Medicine
|May 13, 2026
Summary
Joubert syndrome (JS) is a rare neurodevelopmental disorder with varied motor outcomes. This study found gross motor skills in children with JS correlate more with postural control than isolated structural measures.
Area of Science:
- Neuroscience
- Developmental Biology
- Orthopedics
Background:
- Joubert syndrome (JS) is a rare neurodevelopmental ciliopathy.
- Characterized by cerebellar and brainstem malformation.
- Heterogeneous motor outcomes and limited integrated clinical characterization.
Purpose of the Study:
- Describe a multidimensional motor phenotype in children with JS.
- Explore associations between functional and structural parameters.
- Generate hypotheses for future research.
Main Methods:
- Prospective cross-sectional cohort study of 25 children with JS (aged 2-16 years).
- Assessed gross motor performance (GMFM-88) and postural control (mBARS).
- Measured musculoskeletal and thoracoabdominal parameters; explored associations using Spearman's rank correlation.
Main Results:
- Significant inter-individual variability in functional and structural domains.
- Moderate negative correlation between GMFM-88 and mBARS scores (ρ = -0.512, p=0.007).
- Sacral slope associated with hip extension, ankle dorsiflexion, and thoracoabdominal measurements.
Conclusions:
- JS exhibits multidimensional motor variability across functional, postural, and structural domains.
- Gross motor performance is linked to postural control, not isolated structural measures.
- Integrated, multidomain physiotherapy assessment is valuable for JS.
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