Neurorehabilitation and Functional Improvement in Joubert Syndrome: A 12-Month Case Report.

backgroundJoubert syndrome (JS) is a rare ciliopathy characterized by cerebellar and brainstem malformations and the molar tooth sign on magnetic resonance imaging. Motor impairment is primarily driven by axial hypotonia, impaired postural control, and disrupted respiratory-postural integration. Longitudinal reports describing structured neurorehabilitation with standardized functional outcomes remain limited. CASE PRESENTATION: We report a female child with prenatally suspected vermian hypoplasia and postnatally MRI-confirmed Joubert syndrome. Subsequent molecular testing performed at the age of 3 years and 11 months identified heterozygous variants in the

resultsAfter 12 months, gross motor function improved substantially, with GMFM-88 increasing from 12% to 52% (+40 percentage points). PEDI scaled scores improved across all domains, with mobility increasing from 8 to 40, self-care from 15 to 45, and social function from 25 to 50. Ataxia severity decreased from 22 to 15 on the modified Brief Ataxia Rating Scale, consistent with improved trunk stability and coordination. Postural and respiratory organization improved, reflected by a reduction in the subcostal angle from 137° to 90°, an increase in sacral slope from 5° to 10°, and increased expiratory pressure from 10 to 25 mmHg. Caregiver-reported assessment combined with structured clinical observation indicated improved functional visual performance, including enhanced visual attention, visuomotor coordination, and environmental visual interaction.

conclusionsStructured neurorehabilitation was associated with substantial functional improvement across motor, postural, and respiratory domains. These findings support the clinical relevance of mechanism-oriented neurorehabilitation and standardized longitudinal outcome assessment in Joubert syndrome.