Phenotypic Analysis of Patients with SMC1A Mutations and Epilepsy

Children and adults with CdLS usually receive rehabilitation services across their lifespan. Adaptive equipment can help enhance individuals motor functions and mobility, increasing their quality of life. Equipment may include orthotics (e.g. splints and braces), tripods (walking stick), and wheelchairs. Safety equipment (for example, helmets, door alarms and seat belt harnesses) limits the risk of injuries and should be considered for every individual with CdLS.