Social challenges, autism spectrum disorder, and attention deficit/hyperactivity disorder in youth with neurofibromatosis type I

Abstract

Objective

Youth with neurofibromatosis type I (NF1) demonstrate high rates of Autism Spectrum Disorder (ASD) and Attention Deficit/Hyperactivity Disorder (ADHD), which often have overlapping behaviors. Diagnostic clarity is important to guide services. This study evaluated ASD classification in NF1 using various methods and whether those with ADHD suspicion have more social challenges associated with ASD.

Method

34 youth with NF1 (M_age = 10.5 ± 1.6 years), completed ASD assessments that combined direct observation and informant ratings to yield a Clinician Best Estimate (CBE) classification. Caregivers rated ASD-related social challenges using the Social Responsiveness Scale- 2^nd Edition (SRS-2).

Results

ASD classification varied depending on the method, ranging from 32% using low-threshold SRS-2 cut-scores (T ≥ 60) to under 6% when combining cut scores for diagnostic observational tools and stringent SRS-2 cut-scores (T ≥ 70). 14.7% had a CBE ASD classification. 44% were judged to have autism traits associated with a non-ASD diagnosis. The 52.9% with a suspicion of ADHD had higher SRS-2 scores than those without ADHD, F (7, 26) = 3.45, p < .05, Wilk’s lambda = 0.518, partial eta squared = 0.482.

Conclusions

Findings highlight the importance of rigorous diagnostic methodology when evaluating ASD in NF1 to inform the selection of targeted interventions for socialization challenges in NF1.

Keywords:

• Neurofibromatosis type 1
• autism
• social challenges
• ADHD

Disclosure statement

No potential conflict of interest was reported by the author(s).Dr Roberts disclosures include consulting/equity relationships with Prism Clinical Imaging, Proteus Neurodynamics and Fieldline Inc

Data availability statement

The data that support the findings of this study are available upon request from the corresponding author (MCH). The data are not publicly available due to their containing information that could compromise the privacy of the research participants.

Additional information

Funding

This work was supported by the National Institute of Neurological Disorders and Stroke.