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

Abstract

Background Tuberous Sclerosis Complex (TSC) is a genetic disorder with high prevalence of associated autism spectrum disorder (ASD). 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 cut-off 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 cut-off 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.

Early autism symptoms in infants with tuberous sclerosis complex

“…Our results, as well as comparable findings from a recent report on the use of the AOSI in infants with TSC [Capal et al, ], strongly justify the need for and utility of ASD screening of infants with TSC within the first year of life. The infants with TSC who later developed ASD showed a clear pattern of differentiation in their social communication development by 9 months of age from infants with TSC who did not develop ASD.…”

“…To date, the AOSI has not predicted ASD outcome in high‐risk siblings prior to 12 months of age [Gammer et al, ; Zwaigenbaum et al, ]. While it is evident that the AOSI is a promising measure of emerging ASD symptoms in high‐risk siblings by one year of age, it is not clear whether the AOSI would be similarly clinically useful in other high‐risk infant groups, particularly those at even greater risk for global developmental delays and ASD, such as TSC [although see Capal et al, ].…”

Early patterns of functional brain development associated with autism spectrum disorder in tuberous sclerosis complex

“…Many infants with TSC show developmental delays and emerging signs of ASD by 12 months of age, with the most robust differences occurring between 12 and 24 months of age [Capal et al, 2017;Jeste et al, 2014;McDonald et al, 2017]. Recent evidence from older children and adults with TSC suggests that widespread alterations in neural connectivity are associated with the presence of neurodevelopmental disorders in TSC [Im et al, 2016;Lewis et al, 2012;Peters et al, 2012Peters et al, , 2013.…”

“…Neurodevelopmental or neuropsychiatric disorders (referred to as TSC‐associated neuropsychiatric disorders); [de Vries et al, ; Leclezio, Jansen, Whittemore, & de Vries, ] are common. About 25–60% of children with TSC will receive a diagnosis of Autism Spectrum Disorder (ASD) [Capal et al, ; Granader et al, ; Jeste, Sahin, Bolton, Ploubidis, & Humphrey, ; Vignoli et al, ], and more than 50% have some degree of cognitive impairment [Curatolo, Moavero, & de Vries, ; Joinson et al, ].…”

Early patterns of functional brain development associated with autism spectrum disorder in tuberous sclerosis complex

“…Neurodevelopmental or neuropsychiatric disorders (referred to as TSC-associated neuropsychiatric disorders [TAND]; ) are common. 25-60% of children with TSC will receive a diagnosis of Autism Spectrum Disorder (ASD) (Capal et al, 2017;Granader et al, 2010;Jeste, Sahin, Bolton, Ploubidis, & Humphrey, 2008;Vignoli et al, 2015), and more than 50% have some degree of cognitive impairment (Curatolo, Moavero, & de Vries, 2015;Joinson et al, 2003).…”