Knowledge and Awareness About Joubert’s Syndrome Among Clinical Physiotherapy Practitioners

Background: Joubert syndrome is a rare genetic condition characterized by abnormal brain development that includes the absence or underdevelopment of the cerebellar vermis (an area of the brain that controls balance and coordination) and a malformed brainstem. Clinical practitioners involve assessing, diagnosing, planning, implementing and evaluating treatment/interventions and care for the patients presenting with an undifferentiated diagnosis. Research has shown that physiotherapy clinical practitioners have satisfactory knowledge about JS. Introduction: Joubert’s syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. JS is estimated to affect between 1 in 80,000 and 1 in 100,000. Most of the signs and symptoms of JS appear very early in infancy with most children showing delays in gross motor and neurological features that include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements and neonatal breathing dysregulation. Aim: This study was done to see the knowledge and awareness about JS among physiotherapy clinical practitioners. Methodology: An observational study was conducted in Ahmedabad city. This study was approved by the Ethical Committee. Fifty-five clinical physiotherapists participated in this study. Physiotherapists completed a 16-item questionnaire of the knowledge and awareness about Joubert’s syndrome. Result: The result was carried out by using Microsoft Excel version 2016. Out of the 55-sample size, 75% of physiotherapists had knowledge and awareness about JS, which showed that there is good knowledge about JS. Conclusion: This study concludes that there is good knowledge about Joubert’s syndrome among clinical physiotherapists. However, better insight into this syndrome among clinical practitioners will give better opportunities for treatment.