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. 2017 Oct:75:80-86.
doi: 10.1016/j.pediatrneurol.2017.06.010. Epub 2017 Jun 27.

Utility of the Autism Observation Scale for Infants in Early Identification of Autism in Tuberous Sclerosis Complex

Jamie K Capal  1 , Paul S Horn  2 , Donna S Murray  3 , Anna Weber Byars  2 , Nicole M Bing  4 , Bridget Kent  4 , Lindsey A Bucher  4 , Marian E Williams  5 , Sarah O'Kelley  6 , Deborah A Pearson  7 , Mustafa Sahin  8 , Darcy A Krueger  2 ; TACERN Study Group
Affiliations

Utility of the Autism Observation Scale for Infants in Early Identification of Autism in Tuberous Sclerosis Complex

Jamie K Capal et al. Pediatr Neurol. 2017 Oct.

Abstract

Background: Tuberous sclerosis complex (TSC) is a genetic disorder with high prevalence of associated autism spectrum disorder (ASD). Our primary objectives were to determine early predictors of autism risk to identify children with TSC in most need of early interventions. The Autism Observation Scale for Infants (AOSI) was evaluated as a measure of ASD-associated behaviors in infants with TSC at age 12 months and its ability to predict ASD at 24 months.

Methods: Children ages 0 to 36 months with TSC were enrolled in the TSC Autism Center of Excellence Research Network (TACERN), a multicenter, prospective observational study to identify biomarkers of ASD. The AOSI was administered at age 12 months and the Autism Diagnostic Observation Schedule-2 (ADOS-2) and Autism Diagnostic Interview-Revised (ADI-R) at 24 months. Developmental functioning was assessed using the Mullen Scales of Early Learning. Children were classified as ASD or non-ASD according to the ADOS-2.

Results: Analysis included 79 children who had been administered the AOSI at 12 months and ADOS-2 and ADI-R at 24 months. The ASD group had a mean AOSI total score at 12 months significantly higher than the non-ASD group (11.8 ± 7.4 vs 6.3 ± 4.7; P < 0.001). An AOSI total score cutoff of 13 provided a specificity of 0.89 to detect ASD with the ADOS-2. AOSI total score at 12 months was similarly associated with exceeding cutoff scores on the ADI-R.

Conclusions: The AOSI is a useful clinical tool in determining which infants with TSC are at increased risk for developing ASD.

Keywords: Autism Diagnostic Observation Schedule; autism observational scale for infants; autism spectrum disorder; infants; toddlers; tuberous sclerosis complex.

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Conflict of interest statement

DISCLOSURE OF CONFLICTS OF INTEREST

JYW serves on the professional advisory board for the Tuberous Sclerosis Alliance; has received honoraria from and serves on the scientific advisory board and the speakers’ bureau for Novartis Pharmaceuticals Inc. and Lundbeck; and has received research support from the Tuberous Sclerosis Alliance, Novartis Pharmaceuticals Inc., Today’s and Tomorrow’s Children Fund, Department of Defense/Congressionally Directed Medical Research Program, and the NIH (U01NS082320, P20NS080199, R01NS082649, U54NS092090, and U01NS092595).

MS is supported by Developmental Synaptopathies Consortium (U54 NS092090), which is part of the NCATS Rare Diseases Clinical Research Network (RDCRN). His lab receives research funding from Roche, Novartis, Pfizer, and he has served on the Scientific Advisory Board of Sage Therapeutics. In addition, he serves on the Professional Advisory Board of the Tuberous Sclerosis Alliance and is an Associate Editor of Pediatric Neurology.

DAK has received consulting and speaking fees and travel expenses from Novartis and additional research support from the National Institute of Neurological Disorders and Stroke of the NIH (U01-NS082320, U54-NS092090, P20-NS080199), the Tuberous Sclerosis Alliance, the Van Andel Research Institute, Novartis, and Upsher-Smith Pharmaceuticals. In addition he serves on the professional advisory board and international relations committee for the Tuberous Sclerosis Alliance and the editorial board of Pediatric Neurology.

DAP has received research support from NIH (U01-NS082320; U54-NS092090; U01-NS092595); research support, consulting fees, and travel reimbursement from Curemark, LLC; and research support from Biomarin and Novartis.

HN currently has a project funded by BioMarin testing efficacy of an enzyme substitution drug for phenylketonuria (PKU).

The remaining authors have no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
Normal distribution of AOSI total scores in children with and without ASD based on ADOS-2 classification.
See this image and copyright information in PMC

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