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. 2018 Jul;48(7):2278-2285.
doi: 10.1007/s10803-018-3478-0.

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

S Eijk  1   2 , S E Mous  1   2 , G C Dieleman  1   2 , B Dierckx  1   2 , A B Rietman  1   2 , P F A de Nijs  1   2 , L W Ten Hoopen  1   2 , R van Minkelen  2   3 , Y Elgersma  2   4 , C E Catsman-Berrevoets  2   5 , R Oostenbrink  2   6 , J S Legerstee  7   8   9
Affiliations

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

S Eijk et al. J Autism Dev Disord. 2018 Jul.

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.

Keywords: Autism diagnostic observation schedule; Autism spectrum disorder; Autistic traits; Neurofibromatosis type 1; Prevalence; Social responsiveness scale.

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Conflict of interest statement

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical Approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed Consent

This retrospective study was approved by the Medical Ethics Committee of the Erasmus Medical Center, the Netherlands (MEC-2015-203). Written informed consent was formally waived as there is no patient burden and no privacy concern.

Figures

Fig. 1
Fig. 1
Scatterplot illustrating the distribution of SRS total T-scores (dotted lines indicate the SRS total cutoff scores T ≥ 60 and T ≥ 76) for the two ADOS categories (non-spectrum and ASD), demonstrating low agreement between the instruments
See this image and copyright information in PMC

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