Author:

Abstract:

Objective : Neurofibromatosis type 1 (NF1) is among the most common inherited human diseases. Besides physical manifestations, neurocognitive deficits are frequently reported in children with NF1. In general, an average IQ of about 90 and additional impairments in visuospatial skills, attention, and executive functioning (EF) are described. However, there is no consensus on the neurocognitive profile. In addition, recent studies found a high prevalence of autism spectrum disorder (ASD) in children with NF1. In this research project we assessed the neurocognitive abilities of children with NF1 with and without co-occurring ASD, children with ASD (without NF1), and typically developing (TD) children. Participants and Methods: A task battery was developed measuring EF (inhibition, cognitive flexibility, planning, working memory, and generativity) as well as local and global visual processing. This battery was administered from 20 children with NF1 without ASD (NF1-ASD), 19 children with NF1 and ASD (NF1+ASD), 62 children with ASD, and 63 TD children, aged between 8 and 18 years. Results : Preliminary analyses show that children with NF1+ASD have problems with inhibition, working memory, local and global visual processing, compared to TD children. Children with ASD perform worse than TD children on tasks measuring cognitive flexibility, inhibition, and working memory, and they appear to have a more locally oriented processing style. However, children with ASD are better in inhibition and global processing compared to the NF1+ASD group. The data of the NF1-ASD group have not been analyzed yet. Conclusions : Children with NF1+ASD, children with ASD, and TD children all have a different neurocognitive profile. This could be informative to clinical practice and provides directions for differential treatment of these disorders. However, the heterogenic manifestations of both NF1 and ASD have to be taken into account as well. The data of the NF1-ASD group will also be presented at the conference.