A clinical conceptual framework for testing and designing neuromotor rehabilitation programs in individuals with...

The Additional Sex Combs Like gene (ASXL) encodes a group of transcriptional regulator proteins that bind to chromatin primarily during fetal development. Mutation of the third transcription factor from this gene (ASXL-3) is responsible for the clinical condition of Bainbridge-Ropers syndrome (BRPS). BRPS is classified as a rare disorder and characterized by multiple physiological/ structural/ biomechanical deficits such as hypotonic muscle development, muscle weakness, foot planovarus/valgus deformities, and gait abnormalities. There exists limited evidence-based medical care and rehabilitation regimen for individuals with BRPS. Thus, the health care needs of individuals with BRPS are hugely unmet. The similarity of clinical manifestations of BRPS with other neurodevelopmental disorders of childhood such as cerebral palsy and spina bifida could help us guide toward forming an assessment and management approach for individuals with BRPS. In the following perspective manuscript, we propose an assessment and management plan, for individuals with BRPS. Specifically, our perspective manuscript lays down a preliminary platform to utilize assessment and rehabilitation techniques from other neurological conditions which characteristically share common neuromotor deficits with BRPS to build evidence-based testing and management techniques for individuals with BRPS.