[The neurobiology of learning difficulties: neurofibromatosis type 1 as a model for researching and treating learning...

Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, with a prevalence of around 1:3500. The most important concern for patients and their families is the increased risk of developing benign and malignant tumours in the central and peripheral nervous systems. Up to 80% of patients, however, experience difficulties in learning processes. Symptoms compatible with attention deficit hyperactivity disorder are present in as many as 60% of patients. Learning difficulties are the chief cause of morbidity throughout their lives.

Some recent studies have made it possible to offer a better description of the cognitive and developmental phenotype in patients with NF1. Similarly, advances in our understanding of the underlying molecular and cellular processes in cognitive impairment and access to sophisticated molecular genetics techniques have allowed a number of scientific disciplines to work together in the search for an understanding and potential solution to the cognitive disorders in this population.

Preclinical studies show the enormous potential of certain pharmacological interventions. Transferring the results obtained in the treatment of learning difficulties in animal models of NF1 to the treatment of patients is a step that is currently under development. If it were effective, it would open the door to numerous areas of research that would rapidly increase our knowledge and the possibilities of intervention in this and many other learning disorders.