Deep developmental phenotyping in children with tuberous sclerosis complex, with and without autism

Tuberous sclerosis complex (TSC) is a rare genetic disease that causes non-cancerous (benign) tumors to grow in the brain and several areas of the body. Most people with TSC experience developmental and behavioral challenges. These are referred to as tuberous sclerosis-associated neuropsychiatric disorders (TAND). TAND include conditions such as autism and intellectual disability, which occur in about half of people with TSC, and a broad range of other difficulties, such as attention-deficit/hyperactivity disorder (ADHD) symptoms, and mental health and behavior challenges.

To better understand autism characteristics (i.e. the communication and behavior challenges that occur in autism) and the broader TAND profile, this study investigated patterns of TAND in 50 children with TSC, with and without autism. Experts in child development directly assessed autism characteristics, and the intelligence and language skills of the children. In addition, parents were asked to complete questionnaires about how their children were functioning in day-to-day life, called adaptive functioning, and provide information about symptoms of ADHD and other behaviors.

About half (56%) of the children had autism. Our detailed assessments found: (1) Autistic children had on average a moderate level of autism severity, but there was substantial variation in autism characteristics between individual children. (2) Most autistic children had intellectual disability, usually severe, and marked difficulties with day-to-day function and communication. (3) Language impairment also occurred in almost one-third of children without autism or intellectual disability. (4) ADHD behavioral symptoms were frequent.