Impacto Psicológico de la Neurofibromatosis tipo 1: Implicaciones en la Calidad de vida relacionada con la Salud y las Capacidades Cognitivas de los pacientes.

Abstract

Neurofibromatosis type 1 is a complex genetic disorder that significantly impacts the health-related quality of life of adults living with the condition. This doctoral thesis provides a comprehensive analysis of quality of life and cognitive functioning in adults affected by this disease, structured around four main areas: body image, the assessment of cognitive functions, the adaptation of a specific scale to measure quality of life in NF1 population from Spain, and the identification of clinical, emotional, and social factors that influence it. The findings reveal that body image has a more significant impact on well-being than the objective severity of cutaneous manifestations. Cognitive impairments in executive functions and attention were also identified, even among patients without a previous cognitive impairment. A culturally appropriate, reliable, and specific scale was adapted and validated to assess health-related quality of life in this group. Additionally, pain, anxiety, depression, and perceived social support were shown to have a substantial influence on patients' health-related quality of life. Taken together, these findings contribute valuable knowledge about a rare disease, support the adaptation of psychological assessment tools specific to the spanish NF1 population, and highlight key associations between clinical and emotional variables. This provides a solid foundation for developing more effective intervention strategies focused on an individualized and multidimensional approach to care for individuals with neurofibromatosis type 1.

Date of Award	4 Nov 2025
Original language	Spanish
Awarding Institution	Universitat Autònoma de Barcelona (UAB)
Supervisor	Ignacio Blanco Guillermo (Director) & Merce Jodar Vicente (Director)