La neurofibromatose de type 1 : revue de littérature pour guider l’évaluation et la prise en charge des atteintes neuropsychologiques

Neurofibromatosis type 1 is a genetic disease, with an incidence of 1 in 3,500 births. It can be passed on by either parent or can result from a spontaneous mutation (called the sporadic form). It leads to skin and eye-related disorders or vascular problems. Neuropsychological disorders are prevalent in NF1 and appear in 30-70 percent of children who have the disease. The neuropsychological profile is not well established, and no consensus exists about the cognitive or socio-cognitive impairments in this pathology. However, it is agreed upon that IQ is affected to some extent, remaining in the low average range. Additionally, executive functions and attention are the cognitive functions that are the most affected in NF1. During childhood, learning disabilities are common, as well as Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorder. In this context, it is necessary to detect these learning disabilities as early as possible in children, in order to provide rehabilitation and to minimize the impact they have on these children's daily life, particularly at school. The origins of these difficulties have not yet been clearly identified, and many hypotheses have been put forward about the impairment of both the morphological and functional brain networks. Hyperintensities are pathognomonic of NF1, mainly through frontal cortico-subcortical networks. Their causes and interactions with this neuropsychological disorder are yet not well known. Other neurophysiological hypotheses have also been proposed, like higher white and gray matter density in some brain localizations, functional activation deficits, and impairment of the dopaminergic and GABAergic networks. In order to fully understand the critical impact that NF1 has on quality of life, we need to further explore the neuropsychological deficits in NF1 by adopting a multidisciplinary approach. This will enable us to encourage the use of tailored rehabilitation strategies for patients.