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Tuberous Sclerosis Complex (TSC) is associated with many learning, behavioural, neurodevelopmental and psychiatric difficulties. Over 90 per cent of those with TSC will have some of these concerns, yet typically no more than 20 per cent receive support and treatment. The purpose of this paper is to provide an overview of TSC-Associated Neuropsychiatric Disorders (TAND), explore barriers to identification and management of TAND, and propose possible next steps to improve assessment and treatment of TAND.

The paper combines a brief review of the multiple levels of TAND with a conceptual analysis of barriers and potential facilitators to assessment and intervention for TAND.

Results suggest that the perceived uniqueness of TAND leads to treatment paralysis for most healthcare professionals, thus explaining the assessment and treatment gap seen for TAND. This may in part be due to the multi-dimensionality of TAND, and in part due to lack of access to clear, useful and evidence-based resources for TAND.

Identification of natural TAND clusters through machine-based learning and data reduction methodologies may yield a manageable number of natural groups of TSC-related neuropsychiatric problems, for which a basic “toolkit” of evidence-based interventions could be developed.

Families and clinicians will benefit from a toolkit of tried and tested resources and evidence-based information to guide further investigation and management of TAND.

Even though individuals will have unique TAND profiles, there may be key natural TAND clusters – combinations of behaviours across multi-dimensional levels – that will simplify and improve access to further evaluation, treatment and neuroscientific research.

The purpose of this paper is to describe the impact of having a child with tuberous sclerosis complex (TSC).

The author explains the process her family has been through on their TSC journey.

Several themes emerge from the author’s story: a lack of awareness about relatively common conditions such as epilepsy; a dearth of accessible information provided to families; delays in identification/assessment and a lack of follow up on parents’ concerns; the wide range in the quality of advice provided from one professional/service to another; the extent to which parents have to advocate for their children and the importance of social support.

Few journal articles explore the impact of complex health conditions on families from their perspective and in their own words. This thought provoking viewpoint piece provides a powerful insight into the reality of having a child with TSC.

Tuberous Sclerosis Australia (TSA) is a small rare disease organisation with a large scope. TSA was established in 1981 as a peer support organisation. Since then, its role has evolved to meet the needs of its members: individuals living with tuberous sclerosis complex (TSC), their families and health professionals. The paper aims to discuss these issues.

This case study describes the diverse activities of TSA which include, but are not limited to: the provision of information and support services; sponsorship of research and fostering a network of TSC health professionals. The benefits of collaborations forged under the umbrella organisation TSC International are highlighted.

The case study demonstrates some of the key challenges TSA faces, challenges shared by many similar health charities. These include: funding of health education and promotion activities; working with a large range of health professionals and the challenge of research fatigue.

There is little research published describing the work of small disease specific organisations similar to TSA. This case study provides insight for those collaborating with similar organisations including health professionals and researchers.

Tuberous sclerosis complex (TSC) is a genetic disorder with a high prevalence of autism spectrum disorder (ASD), yet no single genetic, neurological or neurophysiological risk marker is necessary or sufficient to increase risk for ASD. This paper aims to discuss the utility of adopting a developmental perspective.

The increasing number of TSC infants presenting with abnormalities prenatally provides a unique opportunity to study risk pathways to ASD from birth. Here, the authors review findings to date that support the investigation of infants with TSC to further our understanding of typical and atypical development.

Evidence has accumulated from studies of infants at familial risk for ASD (“baby siblings”) to suggest that early markers of ASD are present in the first year of life. The early waves of prospective studies of infants with TSC indicate dynamic changes in developmental trajectories to ASD and are likely to provide insight into cascading effects of brain “insult” early in development. Emerging evidence of phenotypic and biological homology between syndromic and idiopathic cases of ASD supports the notion of a convergence of risk factors on a final common pathway in ASD.

The delineation of brain-based biomarkers of risk, prediction and treatment response in TSC will be critical in aiding the development of targeted intervention and prevention strategies for those infants at high risk of poorer developmental outcomes.

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).

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.

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.

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

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.

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.