Physiotherapy-Based Rehabilitation for Gross Motor and Functional Delay in a Child with Joubert Syndrome: A Case Report

Abstract

Background and Objective: Joubert syndrome is a rare neurodevelopmental disorder resulting in hypotonia, ataxia, impaired coordination, and delayed motor development. Evidence regarding physiotherapy for children with Joubert syndrome remains limited. This case report describes the outcomes of a 6-month physiotherapy program in a 5-year-old male child with gross motor and functional delay secondary to Joubert syndrome. Methods: A 5-year-old male child diagnosed with Joubert syndrome was referred to the Physiotherapy Unit with gross motor delay, generalized hypotonia, impaired balance, reduced functional independence, and inability to walk. Baseline assessments were conducted using the Gross Motor Function Measure (GMFM) and Pediatric Functional Independence Measure (WeeFIM). The child underwent an individualized physiotherapy program over 6 months with one session per week, lasting 90 minutes each. Intervention focused on postural control training, balance exercises, muscle strengthening, gait training, functional task-oriented activities, caregiver education, and a structured home exercise program. Results: Following 6 months of physiotherapy, improvements were observed in motor function and functional independence. The GMFM score increased from 45% to 68%, while the WeeFIM score improved from 52 to 78. The child also showed improved standing balance, mobility, and participation in home and community activities. Conclusion: This case report demonstrates that a structured individualized physiotherapy program can improve gross motor function and functional independence in a child with Joubert syndrome. Acknowledgement: I would also like to extend my sincere appreciation to the Director of the hospital and patient’s parents