Management of a patient with Joubert syndrome using dynamic neuromuscular stabilisation technique to improve postural control: a case report

Abstract

Background/Aims Joubert syndrome is a rare genetic disorder of midbrain–hindbrain malformation characterised by cerebellar ataxia, hypotonia, intellectual disability, delayed milestones, ocular and respiratory impairment. This case study presents a comprehensive approach for the intervention of a 7-year-old patient with Joubert syndrome, focusing on core stability using dynamic neuromuscular stabilisation techniques in conjunction with conventional physiotherapy. Methods To address core stability, an intensive regimen of dynamic neuromuscular stabilisation exercise sessions was implemented, conducted five times a week over a span of 7 months. Each session of dynamic neuromuscular stabilisation lasted for 30 minutes with an additional 30 minutes for conventional physiotherapy. Outcome measures, including the Functional Independence Measure for Children and Gross Motor Function Measure, were used to evaluate the impact of the intervention. Results There were significant increases in the Gross Motor Function Measure and Functional Independence Measure for Children, with initial scores of 30 and 31, advancing to 134 and 53 respectively. Conclusions The findings suggest that dynamic neuromuscular stabilisation, with a focus on joint centration and spinal stabilisation to maintain optimal intra-abdominal pressure, along with traditional physiotherapy, can help patients with Joubert syndrome improve their postural balance. Implications for practice This case study raises awareness of diagnosing and addressing rare diseases such as Joubert syndrome. Physiotherapy professionals can use this case study to create therapeutic interventions for individuals with Joubert syndrome.