Multidimensional Functional Phenotyping in Children with Joubert Syndrome: A Pilot Case Series

Area of Science:

• Neuroscience
• Developmental Biology
• Clinical Medicine

Background:

• Joubert syndrome (JS) is a rare neurodevelopmental disorder.
• Characterized by cerebellar and brainstem malformations impacting motor control, sensorimotor integration, and autonomic regulation.
• Global gross motor scores may not fully capture functional deficits in JS.

Purpose of the Study:

• To provide a multidimensional functional characterization of children with JS.
• Integrate standardized motor assessments with postural, musculoskeletal, and thoracoabdominal measures.
• Explore functional domains beyond global motor scores in JS.

Main Methods:

• Descriptive pilot case series of six children with confirmed JS.
• Utilized Gross Motor Function Measure-88 and Balance Assessment Rating Scale.
• Included assessments of joint range of motion, pelvic alignment, thoracic configuration, and respiratory measures.

Main Results:

• Wide variation in gross motor performance and postural control.
• Significant inter-individual variability in joint mobility, pelvic alignment, and thoracoabdominal configuration.
• Thoracic excursion during quiet breathing showed a narrow, low range within the cohort.

Conclusions:

• Functional characteristics in JS extend beyond global motor scores.
• Axial control, postural organization, and thoracoabdominal configuration are relevant descriptive domains.
• Larger, longitudinal studies are needed to determine clinical and neurodevelopmental significance.