Profile of Autism Spectrum Disorder in Tuberous Sclerosis Complex: Results from a Longitudinal, Prospective, Multisite Study.

OBJECTIVE: Tuberous sclerosis complex (TSC) is highly associated with autism spectrum disorder (ASD). Objectives of the study were to characterize autistic features in young children with TSC. METHODS: Participants included 138 children followed from ages 3 to 36 months with TSC from the Tuberous Sclerosis Complex Autism Center of Excellence Research Network (TACERN), a multicenter, prospective observational study aimed at understanding the underlying mechanisms of ASD in TSC. Developmental and autism-specific assessments were administered, and a clinical diagnosis of ASD was determined for all participants at 36 months. Further analyses were performed on 117 participants with valid autism assessments based on nonverbal mental age greater than 15 months. RESULTS: Prevalence of clinical diagnosis of ASD at 36 months was 25%. Nearly all autistic behaviors on the Autism Diagnostic Observation Schedule-2 (ADOS-2) and Autism Diagnostic Interview-Revised (ADI-R) were more prevalent in children diagnosed with ASD; however, autism-specific behaviors were also observed in children without ASD. Overall quality of social overtures, facial expressions, and abnormal repetitive interests and behaviors were characteristics most likely to distinguish children with ASD from those without an ASD diagnosis. Participants meeting ADOS-2 criteria but not a clinical ASD diagnosis exhibited intermediate developmental and ADOS-2 scores compared to individuals with and without ASD. INTERPRETATION: ASD is highly prevalent in TSC, and many additional individuals with TSC exhibit a broad range of subthreshold autistic behaviors. Our findings reveal a broader autism phenotype that can be identified in young children with TSC, which provides opportunity for early targeted treatments. ANN NEUROL 2021;90:874-886.

Evidenced-Based Interventions for Children With Autism Spectrum Disorder.

This paper reviews evidenced-based interventions for children with autism spectrum disorders (ASD) across the disciplines of psychology, speech-language pathology, occupational therapy, and developmental pediatrics. BACKGROUND: rates of ASD diagnoses have been steadily rising over the past 2 decades. There are a wide range of therapies and interventions, of varying levels of evidence, across disciplines that are now available to treat children with ASD. The field has moved toward a greater emphasis on the identification and utilization of evidenced-based treatments. METHODS: a review and summary of recent literature was conducted by professionals in an interdisciplinary autism center. An emphasis was placed on results of the National Autism Center's National Standards Project. RESULTS AND CONCLUSIONS: within each discipline, interventions exist that vary in level of evidenced-based support. Although disciplines may differ in their definitions of evidence-based treatments, it is important for each discipline to strive to offer and promote practices with the best evidenced-based support according to each field's standards.

Autism spectrum disorders.

Autism spectrum disorders are being diagnosed with increasing frequency. The likelihood that a primary care provider will see a patient with autism spectrum disorder in their clinic is high. In this article, current diagnostic criteria and expected changes in DSM criteria, as well as prevalence rates and epidemiologic studies are reviewed. Recommendations for screening, including early warning signs, and best practices for diagnosis are discussed. Comprehensive evidence based intervention for ASD as well as the findings of the National Standards Project are reviewed. Medication management is also described, as are the roles of other treating professionals.