Rehabilitation of a 15-month-old Child with Orofaciodigital Syndrome Type VI, Joubert Syndrome

Abstract

Orofaciodigital syndrome (OFDS) type-VI, a rare subtype of Joubert syndrome, is characterized by delays in gross motor development, hypotonia, and the presence of a distinctive molar tooth sign on magnetic resonance imaging. The objective of this case report is to underscore the benefits of physiotherapy rehabilitation and delineate the clinical features associated with OFDS type VI. In this case study, we explore the details of a 15-month-old boy grappling with motor and sensory challenges related to this rare condition. The child has experienced notable improvements through play-based physiotherapy treatments, encompassing neurodevelopmental therapy, sensory integration, and adjunctive methods such as prowraps, kinesiotaping, and treadmill walking. These sessions occurred three times a week over a 10-month period. Gross motor and functional assessments, along with the Sensory Profile 2, were conducted at both the 15-month mark and when the child reached 2.1 years. The pre-GMFM score at the baseline (15th month) was 15.33, demonstrating a remarkable 57.37% improvement post-treatment at 2.1 years. Noteworthy enhancements were observed across all the dimensions of the Sensory Profile 2. This report signifies the significance of physiotherapy rehabilitation, highlighting the efficacy of a comprehensive approach involving neurodevelopmental therapy, sensory integration, and adjunct therapies.