Autism Spectrum Disorder Symptomatology in Children with Neurofibromatosis Type 1

Abstract

Social problems are a common concern of parents of children with Neurofibromatosis type 1 (NF1). There has been a recent surge of research examining the prevalence of autism spectrum disorders (ASD) and ASD symptomatology in children with NF1. Findings from this relatively new body of research are mixed. The primary aim of this study was to examine ASD symptomatology in children with NF1 using a comprehensive assessment of ASD symptoms. A second aim was to examine possible variables that may contribute to socio-communicative difficulties. Participants included 25 children with NF1 between the ages of 9 and 13, along with their parent. Standardized parent-report questionnaires were used to assess social responsiveness and restrictive and repetitive behaviors (RRB; Social Responsiveness Scale, Second Edition: SRS-2) and ASD symptomatology (Social Communication Questionnaire: SCQ). Diagnostic assessment measures for ASD were used to examine the frequency and severity of ASD symptomatology (Autism Screening Interview: ASI, and Autism Diagnostic Observation Scale, Second Edition: ADOS-2). Selected measures were used to assess intellectual functioning, attention, social cognition, and pragmatic language. Overall, results indicate that 30% of parents observed mild to moderate social responsiveness difficulties and RRB on the SRS-2. However, no children met diagnostic criteria for ASD based on the combination of ASI and ADOS-2 classifications and very few RRB were reported by parents or observed by clinicians. Relations between social responsiveness and intellectual functioning, social information processing, and pragmatic language were found. Performance on a pragmatic language task uniquely explained 38% of the social responsiveness difficulties reported by parents. Results indicate that children with NF1 are demonstrating elevated ASD symptomatology per parent and clinician report; however, those difficulties are largely not severe nor pervasive enough to meet criteria for ASD.