32119
Behavioral and Developmental Characteristics of Infants and Young Children with Tuberous Sclerosis Complex (TSC)
Objectives: Describe behavioral and developmental characteristics of young children with TSC who have been evaluated by developmental and autism-specific assessments.
Methods: Children ages 0-36 months with TSC participated in the TSC Autism Center of Excellence Network, a large, multicenter, prospective observational study evaluating natural history of ASD in TSC. Children were evaluated longitudinally with Mullen Scales of Early Learning (MSEL), Vineland Adaptive Behavior Scales, 2ndEdition, Survey Interview (VABS-II), and Preschool Language Scales, 5thEdition (PLS-5). Autism-specific assessments, including the Autism Observation Scale for Infants (AOSI) administered at 12 months, and Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) and Autism Diagnostic Interview-Revised (ADI-R), were administered at 24 and 36 months at which point a diagnosis of ASD or not ASD was assigned by expert clinical team. Multiple analyses were performed including utility of using the AOSI to predict positive ADOS-2 at 24 and 36 months determining differences in diagnostic ASD categories (ADOS-2 negative/ASD diagnosis negative (non-ASD)), ADOS-2 positive/clinical ASD diagnosis negative (Mixed), and ADOS-2 positive/ASD diagnosis positive (ASD) groups).
Results: As expected, the ASD group exhibited lower scores on all measures compared to the non-ASD group (p<0.01). The mixed group (N=23) exhibited lower scores on nearly all measures of the MSEL, VABS-II, and PLS-5 compared to the non-ASD group (N=55) and higher scores for most of the same when compared to the ASD group (N=19) (p<0.05). Percentage-wise, 100% children in the ASD group at 24 months were developmentally delayed (SS<85 on the MSEL Early Learning Composite) compared to 70% in the mixed group and 44% in the non-ASD group. At 36 months, the mixed group (N=8) was more similar to the non-ASD group (N=35) than the ASD group (N=15)(p<0.05). The mean AOSI total score in patients diagnosed with ASD at 24 months was 13.3 ±6.7 versus 7.5 ±6.0 in patients not diagnosed with ASD (p=0.007). At 36 months, mean AOSI total score continued to be predictive of clinical diagnosis of ASD (12.4 ± 7.2 vs 7.1 ±4.3, p=0.032).
Conclusions: Autism specific characteristics may be present in young children with TSC that can be identified at 12 months by the AOSI. In addition, autistic traits are present in children with TSC that do not meet full criteria for ASD. This third group may represent a broader autism phenotype in TSC.