Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1)

S Eijk,A B Rietman,P F A De Nijs,C E Catsman-Berrevoets,B Dierckx,R Van Minkelen,S E Mous,J S Legerstee,G C Dieleman,Y Elgersma,R Oostenbrink,L W Ten Hoopen

doi:10.1007/s10803-018-3478-0

Abstract

In a non-selected sample of children with Neurofibromatosis type 1 (NF1) the prevalence rate of autism spectrum disorder (ASD) and predictive value of an observational (ADOS)—and questionnaire-based screening instrument were assessed. Complete data was available for 128 children. The prevalence rate for clinical ASD was 10.9%, which is clearly higher than in the general population. This prevalence rate is presumably more accurate than in previous studies that examined children with NF1 with an ASD presumption or solely based on screening instruments. The combined observational- and screening based classifications demonstrated the highest positive predictive value for DSM-IV diagnosis, highlighting the importance of using both instruments in children with NF1.

Highlights

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder affecting 1 in 2500–3000 individuals (Williams et al 2009)
There were no significant differences between the group of children with and without available social responsiveness scale (SRS) scores regarding gender, intelligence scores, age, ADOS calibrated severity scores (CSS) or DSM-IV diagnosis
The present study aimed to examine the prevalence of autism spectrum disorder (ASD) in a sample of children with NF1 without a presumption of autistic symptoms

Summary

Introduction

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder affecting 1 in 2500–3000 individuals (Williams et al 2009). The disorder is inherited in half of the cases, and in the other half the mutation is de novo (Messiaen et al 2000). The NF1 gene encodes for the protein neurofibromin, which activates the protein RasGTPase (Rauen 2013). RasGTPase functions as a negative regulator of Ras, a protein involved in the regulation of the cell cycle, growth and differentiation. As a result of mutations in NF1, a decrease in neurofibromin activity causes increased cell growth. Affected individuals are recognized by the representation of at least two distinctive physical features, including caféau-lait spots, intertriginous freckling, Lisch nodules, neurofibromas, optic pathway gliomas or distinctive bone-forming lesions (Williams et al 2009)

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