Combined clinic and home-based therapeutic approach for the treatment of bilateral radial deficiency for a young child with Holt-Oram syndrome: A case report

Background Holt-Oram syndrome (HOS) is a rare, genetic condition characterized by the combination of congenital heart defect and hypoplasia in one or both upper extremities. Children with HOS commonly present with varied joint and limb involvement including radial longitudinal deficiency impacting hand function. Evidence-based guidelines regarding orthotic wear and therapeutic techniques are lacking. Purpose The aim of this case report was to present the results of a long-term occupational therapy program for a patient with HOS pre and post pollicization Study Design Case Report Methods A 4-month-old patient with bilateral radial longitudinal deficiencies began outpatient occupational therapy for custom orthosis fabrication and treatment which included long term clinic and home-based intervention. Techniques included passive range of motion, orthosis wear, therapeutic taping, and modified constraint induced movement therapy. Longitudinal assessment of musculoskeletal alignment and functional hand use was performed using goniometry for passive and active range of motion, the Assisting Hand Assessment (AHA), and The Thumb and Grasp Assessment of Pinch (T-GAP). Results Improvement in passive and active range of motion was achieved as well as improved activity level function as measured by the AHA and T-GAP post pollicization and intervention. Conclusions A combined clinic and home-based therapeutic approach can be effective for children with HOS to improve alignment and function pre and post pollicization to further enhance hand function. Comprehensive, long-term assessment is necessary to fully evaluate and communicate improvement.