Pacientes con neurofibromatosis tipo 1: perfil cognitivo y trastornos en funciones cerebrales superiores en la edad pediátrica / Cognitive profile and disorders affecting higher brain functions in paediatric patients with neurofibromatosis type 1

Introducción: La neurofibromatosis tipo 1 (NF1) es un síndrome neurocutáneo frecuente que en muchos casos se asocia a dificultades cognitivas específicas que habitualmente no son tenidas en cuenta en el seguimiento médico de estos pacientes. Objetivo: Trazar el perfil cognitivo de pacientes con NF1 detectando trastornos en funciones superiores asociados al mismo. Identificar motivos de consulta de pacientes pediátricos con NF1 en relación con su desempeño escolar. Métodos: Trabajo descriptivo transversal. Se evaluó neuropsicológicamente a 24 pacientes con NF1 con edades comprendidas entre los 5 y los 16 años de edad. Resultados: Los motivos de consulta más frecuentes fueron: problemas atencionales (58,33%), aprendizaje (25%), coordinación motora (25%) y lenguaje (0,8%). Si bien el estudio reveló que el 96% de los pacientes tenía compromiso en al menos una de las áreas evaluadas, solo el 83,34% de los padres las refirieron. El 58,33% presentó trastorno por déficit de atención con hiperactividad (TDAH), el 33,33% trastorno de aprendizaje no verbal (TANV), el 20,83% dificultades en aspectos expresivos del lenguaje, el 8,33% coeficiente intelectual (CI) limítrofe, el 4,16% retraso mental y el 4,16% no mostró dificultades. Conclusiones: Existe alta frecuencia de trastornos en funciones superiores en niños con NF1. Aunque muchos padres detectan dichos trastornos, se ha observado que otros son subestimados. Consideramos conveniente que todos los niños con NF1 cuenten con una evaluación neuropsicológica a fin de poder detectar dificultades existentes en cada caso y así poder elaborar una estrategia de rehabilitación cognitiva precoz y efectiva

Introduction: Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome often associated with specific cognitive deficits that are rarely monitored during follow-up of these patients. Objective: The purpose of our study is two-fold. First, we aimed to describe the cognitive profile of patients with NF1 and detect disorders in higher brain functions associated with the disease. Second, we identified the reasons for consultation associated with school performance in these patients. Methods: We conducted a descriptive cross-sectional study of 24 paediatric patients (ages 5 to 16) with NF1 who underwent neuropsychological assessment. Results: The most frequent reasons for consultation were attention deficits (58.33%), learning disorders (25%), poor motor coordination (25%), and language impairment (0.8%). Although 96% of the patients displayed impairments in at least one of the assessed areas, only 83.34% of the parents had reported such impairments. Attention-deficit/hyperactivity disorder was present in 58.33% of the patients, whereas 33.33% had nonverbal learning disabilities, 20.83% had expressive language disorder, 8.33% had borderline intellectual functioning, 4.16% had mental retardation, and only 4.16% showed no cognitive impairment. Conclusion: Higher brain functions are frequently impaired in paediatric patients with NF1. Although many parents report such disorders, they can go undetected in some cases. Neuropsychological assessment is recommended for all paediatric patients with NF1 to detect cognitive impairment and provide early, effective rehabilitation treatment

Cognitive profile and disorders affecting higher brain functions in paediatric patients with neurofibromatosis type 1. / Pacientes con neurofibromatosis tipo 1: perfil cognitivo y trastornos en funciones cerebrales superiores en la edad pediátrica.

INTRODUCTION: Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome often associated with specific cognitive deficits that are rarely monitored during follow-up of these patients. OBJECTIVE: The purpose of our study is two-fold. First, we aimed to describe the cognitive profile of patients with NF1 and detect disorders in higher brain functions associated with the disease. Second, we identified the reasons for consultation associated with school performance in these patients. METHODS: We conducted a descriptive cross-sectional study of 24 paediatric patients (ages 5 to 16) with NF1 who underwent neuropsychological assessment. RESULTS: The most frequent reasons for consultation were attention deficits (58.33%), learning disorders (25%), poor motor coordination (25%), and language impairment (0.8%). Although 96% of the patients displayed impairments in at least one of the assessed areas, only 83.34% of the parents had reported such impairments. Attention-deficit/hyperactivity disorder was present in 58.33% of the patients, whereas 33.33% had nonverbal learning disabilities, 20.83% had expressive language disorder, 8.33% had borderline intellectual functioning, 4.16% had mental retardation, and only 4.16% showed no cognitive impairment. CONCLUSION: Higher brain functions are frequently impaired in paediatric patients with NF1. Although many parents report such disorders, they can go undetected in some cases. Neuropsychological assessment is recommended for all paediatric patients with NF1 to detect cognitive impairment and provide early, effective rehabilitation treatment.