Advances in Tuberous Sclerosis Complex (TSC) research

Abstract

Purpose

– The purpose of this paper is to provide a brief, descriptive overview of Tuberous Sclerosis Complex (TSC) research with particular reference to studies on Autism Spectrum Disorder (ASD).

Design/methodology/approach

– A search of electronic databases was carried out to identify English language articles on TSC. The literature was explored in more detail with a focus on neurodevelopmental disorders associated with TSC such as ASD.

Findings

– The review included 3,679 references. The earliest articles identified were published in the early twentieth century. Since then research on TSC has advanced rapidly and is being carried out worldwide. Just 62 studies have focused on ASD in TSC, although the number of publications is increasing over time.

Research limitations/implications

– More research on ASD in TSC is needed to benefit those affected by TSC and the broader ASD scientific community.

Practical implications

– Practitioners working with children and adults with ASD should be aware of the wider health issues experienced by those with genetic conditions such as TSC. Similarly, clinicians working with those who have TSC should be aware of the high prevalence of ASD in the group and implications for the way they work with their patients.

Originality/value

– This is the first paper to map and characterise the scientific literature on TSC. There remains a focus on the biomedical aspects of TSC with fewer studies on psychosocial/educational or family impacts. The review concludes with recommended research questions for the future.