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Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1) |
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| Authors: | S. Eijk S. E. Mous G. C. Dieleman B. Dierckx A. B. Rietman P. F. A. de Nijs L. W. ten Hoopen R. van Minkelen Y. Elgersma C. E. Catsman-Berrevoets R. Oostenbrink J. S. Legerstee |
| Affiliation: | 1.Department of Child and Adolescent Psychiatry/Psychology,Erasmus Medical Center-Sophia Children’s Hospital,Rotterdam,The Netherlands;2.ENCORE Expertise Center for Neurodevelopmental Disorders,Erasmus Medical Center Sophia Children’s Hospital,Rotterdam,The Netherlands;3.Department of Clinical Genetics,Erasmus Medical Center,Rotterdam,The Netherlands;4.Department of Neuroscience,Erasmus Medical Centre Rotterdam,Rotterdam,The Netherlands;5.Department of Pediatric Neurology,Erasmus Medical Center-Sophia Children’s Hospital,Rotterdam,The Netherlands;6.Department of General Paediatrics,Erasmus Medical Center-Sophia Children’s Hospital,Rotterdam,The Netherlands;7.Department of Child and Adolescent Psychiatry/Psychology,Erasmus Medical Center-Sophia Children’s Hospital,Rotterdam,The Netherlands |
| 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. |
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