Neurofibromatosis review with focus on rehabilitation intervention

Neurofibromatosis Type 1 (NF1) is a complex, multisystem genetic disorder characterized by cutaneous, neurologic, orthopedic, and cognitive manifestations. Affecting approximately 1 in 3000 individuals worldwide, NF1 has a variable phenotype, but children commonly present with a combination of cognitive impairment, learning disabilities, attention-deficit/hyperactivity disorder (ADHD), motor coordination deficits, behavioral challenges, chronic pain, and orthopedic complications. Functional impairments often manifest in both gross and fine motor domains, with gait abnormalities, hypotonia, and reduced endurance. Chronic pain, especially related to plexiform neurofibromas, further impacts quality of life and is associated with neuronal hyperexcitability in the context of neurofibromin deficiency. Rehabilitation plays a critical role in improving function and quality of life by integrating interdisciplinary therapies, educational support, family education, and individualized goal-setting. A comprehensive approach is essential for identifying and managing the diverse impairments associated with NF1 across developmental stages.