The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review

Stephanie Vanclooster, Stacey Bissell, Agnies van Eeghen, Nola Chambers, Liesbeth De Waele, Anna Byars, Jamie Capal, Sebastian Cukier, Peter Davis, Jennifer Flinn, Sugnet Gardner-Lubbe, Tanjala Gipson, Tosca-Marie Heunis, Dena Hook, J.Christopher Kingswood, Darcy Krueger, Aubrey Kumm, Mustafa Sahin, Eva Schoeters, Catherine SmithShoba Srivastava, Megumi Takei, Robert Waltereit, Anna Jansen, Petrus de Vries*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

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Abstract

Background: Tuberous sclerosis complex (TSC)–associated neuropsychiatric disorders (TAND) is an umbrella term for the behavioural, psychiatric, intellectual, academic, neuropsychological and psychosocial manifestations of TSC. Although TAND affects 90% of individuals with TSC during their lifetime, these manifestations are relatively under-assessed, under-treated and under-researched. We performed a comprehensive scoping review of all TAND research to date (a) to describe the existing TAND research landscape and (b) to identify knowledge gaps to guide future TAND research.

Methods: The study was conducted in accordance with stages outlined within the Arksey and O’Malley scoping review framework. Ten research questions relating to study characteristics, research design and research content of TAND levels and clusters were examined.

Results: Of the 2841 returned searches, 230 articles published between 1987 and 2020 were included (animal studies = 30, case studies = 47, cohort studies = 153), with more than half published since the term TAND was coined in 2012 (118/230; 51%). Cohort studies largely involved children and/or adolescents (63%) as opposed to older adults (16%). Studies were represented across 341 individual research sites from 45 countries, the majority from the USA (89/341; 26%) and the UK (50/341; 15%). Only 48 research sites (14%) were within low–middle income countries (LMICs). Animal studies and case studies were of relatively high/high quality, but cohort studies showed significant variability. Of the 153 cohort studies, only 16 (10%) included interventions. None of these were non-pharmacological, and only 13 employed remote methodologies (e.g. telephone interviews, online surveys). Of all TAND clusters, the autism spectrum disorder–like cluster was the most widely researched (138/230; 60%) and the scholastic cluster the least (53/200; 27%).

Conclusions: Despite the recent increase in TAND research, studies that represent participants across the lifespan, LMIC research sites and non-pharmacological interventions were identified as future priorities. The quality of cohort studies requires improvement, to which the use of standardised direct behavioural assessments may contribute. In human studies, the academic level in particular warrants further investigation. Remote technologies could help to address many of the TAND knowledge gaps identified.
Original languageEnglish
Article number13
Number of pages23
JournalJournal of Neurodevelopmental Disorders
Volume14
Issue number1
Early online date13 Feb 2022
DOIs
Publication statusPublished - Dec 2022

Keywords

  • Tuberous sclerosis complex
  • Scoping review
  • TSC-associated neuropsychiatric disorders
  • Autism
  • Behaviour
  • Psychiatric
  • Intellectual
  • Scholastic
  • Neuropsychological
  • Psychosocial

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