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

Area of Science:

• Neurodevelopmental disorders
• Genetics and rare diseases

Background:

• Tuberous sclerosis complex (TSC) is a genetic disorder with a high comorbidity with autism spectrum disorder (ASD).
• Understanding the spectrum of autistic features in young children with TSC is crucial for early diagnosis and intervention.

Purpose of the Study:

• To characterize autistic features in young children diagnosed with Tuberous Sclerosis Complex (TSC).
• To investigate the prevalence and specific characteristics of autism spectrum disorder (ASD) within a cohort of children with TSC.
• To identify behavioral markers that differentiate children with TSC and ASD from those with TSC but without ASD.

Main Methods:

• A prospective observational study followed 138 children with TSC from 3 to 36 months of age.
• Developmental and autism-specific assessments, including the Autism Diagnostic Observation Schedule-2 (ADOS-2) and Autism Diagnostic Interview-Revised (ADI-R), were administered.
• Clinical diagnosis of ASD was determined at 36 months; analyses included 117 participants with valid autism assessments.

Main Results:

• The prevalence of a clinical ASD diagnosis at 36 months was 25% in the TSC cohort.
• Children with ASD showed higher prevalence of most autistic behaviors assessed by ADOS-2 and ADI-R.
• Distinct social and repetitive behaviors differentiated children with ASD from those without, with intermediate scores in those meeting ADOS-2 criteria but not a clinical ASD diagnosis.

Conclusions:

• Autism spectrum disorder is highly prevalent in young children with Tuberous Sclerosis Complex.
• A broader autism phenotype, including subthreshold autistic behaviors, is identifiable in children with TSC.
• These findings support the potential for early, targeted interventions in young children with TSC exhibiting autistic features.