Learning difficulties are one of the most common complications of NF1 in childhood. These difficulties often undermine school success and career choice, and have a significant impact on an individual's quality of life and emotional well-being. Our current research proposal is focused on understanding the developmental profile of very young children with NF1 -- aged 5 months to 8 years of age; the identification of early predictors of developmental delay and cognitive dysfunction in children with NF1; improving our understanding of the day-to-day problems faced by children with NF1 and cognitive deficits; providing guidelines for the cognitive assessment of children with NF1; and the development of a rapid screening tool for use by health professionals to facilitate the early identification of cognitive problems and to guide further testing and therapy.

A thorough evaluation of developmental and cognitive function in children with NF1 from 5 months to 8 years of age has not been performed. Through extensive research performed in older children, we know that children with NF1 are at high risk for a wide variety of learning problems. By characterizing the patterns of development in younger children with NF1, we can identify early predictors of developmental delay and learning disabilities. Specific therapies and early interventions can then be developed to improve the long-term outcome in these children.

Preliminary data from our recent studies suggest that functional problems (i.e., problems that occur in real environments and are relevant to life or academic goals) are common in children with NF1, but are not adequately identified on a standard psychological assessment. A "real world" understanding of these problems is necessary to guide the development of therapy programs in these children. The first aim of our study is to identify functional problems in children with NF1 and determine which psychological tests are the best predictors of these problems. We will devise a "cognitive screener" for use by neurologists/pediatricians in the NF clinic and test its ability to identify specific cognitive problems. The availability of a brief cognitive screener will allow the early identification of children with cognitive deficits and guide referral for further neuropsychological assessment.