| Disgrifiad: |
The role of this study is to demonstrate the efficacy of kinetotherapy applied starting from the first month of life in patients with Larsen syndrome. Larsen syndrome is a rare genetic disorder characterized by multiple skeletal abnormalities and other congenital malformations. It is caused by mutations in genes affecting connective tissue development, particularly collagen, and is inherited in an autosomal dominant manner. Treatment for Larsen syndrome is multidisciplinary, personalized, and tailored to the specific symptoms and complications of each patient. Larsen syndrome manifests across multiple systems and organs (skeleton, joints, spine, heart, respiratory system), requiring complex interventions and collaboration among specialists: orthopedists, surgeons, cardiologists, pediatricians, neurologists, psychologists, and physiotherapists. To highlight the importance of kinetotherapy in the recovery of patients with Larsen syndrome, we implemented an early kinetotherapeutic treatment program starting from the first month of life. The results of this early therapeutic program led to the acquisition of motor skills aligned with age-appropriate neuromotor development milestones. Achieving age-appropriate skills ensures a higher quality of life, facilitating the child’s integration into psycho-emotional and social contexts: kindergarten, school, and recreational activities. |