Original ArticleDistribution and Within-Family Specificity of Quantitative Autistic Traits in Patients with Neurofibromatosis Type I
Section snippets
Methods
The Washington University Neurofibromatosis Center actively follows 320 individuals from 253 families. Following review and approval of a separate protocol by the Washington University Human Research Protection Office, the families were contacted to request participation in the current behavioral phenotyping study. One hundred fifty-one individuals (47.2%) agreed to participate and were sent a study packet, which included age- and rater-appropriate versions of the Social Responsiveness Scale,
Results
The data for total SRS-2 scores for the full sample of patients with NF1 exhibited a continuous unimodal distribution, pathologically shifted by 0.6 SD in adults and 1.0 SD in children in comparison with general population norms (Figure 1, A).
DSM-5 subscale scores for social communication/interaction and repetitive behavior/restricted interests were similarly continuously distributed. SRS-2 total scores, DSM-5 subscale scores, and all treatment scale scores on the SRS-2 were elevated in
Discussion
We confirm prior reports of substantial autistic trait burden in individuals with NF1: 44% with QAT burden at or above 1 SD from the population mean, and 13% at or above the extreme first percentile of the general population distribution. These data also provide several fundamental new insights into the association between NF1, ADHD, and autistic symptomatology. First, although the distribution of total autistic trait scores appears fully continuous, there is marked bimodality in the
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Research was supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development of the National Institutes of Health under Award Number P30HD062171 to the Intellectual and Developmental Disabilities Research Center at Washington University. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. J.C. receives royalties from Western Psychological Services for commercial sales and distribution of the Social Responsiveness Scale-2. The other authors declare no conflicts of interest.