Cognition in Neurofibromatosis Type 1: What We Know and What We Do Not

Background/Purpose: Neurofibromatosis type 1 (NF1, MIM#162200) is a genetic disorder in which 30 to 70% of cases are affected by neurocognitive deficits in addition to somatic symptoms. The aim of this article is to summarize what is known about these deficits in the current literature. Further, its aim is to highlight gaps in the knowledge concerning these deficits.

Methods: We reviewed the current literature concerning the topics NF1 and cognition.

Results: The review of the literature showed for the cognitive profile of patients with NF1 to be very heterogeneous. Some of them may be affected by IQ reductions, attention deficits, or problems in visuospatial abilities or phonological processing. Molecular mechanisms (i.e., neurofibromin, Ras, and dopamine) as well as structural brain changes play a significant causal role in regard to these deficits. It is yet unclear, however, which changes these cognitive deficits and the possible underlying mechanisms undergo during development. In addition, there is hardly any knowledge concerning neurophysiological mechanisms which may significantly influence cognitive functioning. Closing these gaps in the current knowledge may significantly contribute to the development of individualized treatment strategies (e.g., neurofeedback).

Conclusion: Cognitive deficits in NF1 are highly variable between patients. A lot is known concerning the etiology of these deficits. This, however, is not the case in regard to the underlying neurophysiological mechanisms, which constitute a bridge between molecular processes and behavior. A broadening of this knowledge may generate important impulses for the development of individualized treatment approaches.