Abstract

Background Tuberous Sclerosis Complex (TSC) is a rare multi-system genetic disorder characterised by benign growths in multiple body systems. TSC-Associated Neuropsychiatric Disorders (TAND) are very common in individuals with TSC, but families often struggle to access appropriate clinical care. To address this gap, the new TAND-SQ Checklist allows individuals with TSC or their caregivers to self-report and quantify characteristics of TAND. The 33 items make up seven natural TAND clusters and an eighth cluster reflecting psychosocial difficulties in individuals with TSC and their caregivers. Respondents rate items as having ever been present to generate cluster scores (CS), and rate item severity (over the last month) on a 10-point scale to generate cluster severity scores (CSSmean) and a total TAND severity score (TTSSmean). The purpose of this study was to determine the reliability and validity of the CS, CSSmean and TTSSmean of the TAND-SQ. Methods A descriptive group design was used. Two convenience samples with existing clinical data were recruited from the TSC Alliance Natural History Database (NHD) in the USA (n = 69), and from the Developmental Synaptopathies Consortium Rare Diseases Clinical Research Network (RDCRN) study based at Boston and Cincinnati Children's Hospitals (n = 23), totalling 92 participants. Results Analyses showed good internal consistency for CS (Cronbach’s alphas: 0.67–0.89) and CSSmean (0.76–0.95) with the exception of the eat/sleep cluster. Within the TAND-SQ, most CS and all CSSmean were significantly correlated to corresponding self-reported clinical diagnoses, and the TTSSmean was significantly correlated to a global self-rating of TAND burden (ρ = 0.75; p < .001). Significant correlations were observed between the CS and CSSmean and a range of relevant standardised behavioural measures in the RDCRN cohort. The TTSSmean was significantly correlated with global measures of adaptive behaviour (ρ = − 0.75; p < .001) and emotional/behavioural difficulties (ρ = 0.71; p = .001). All CS were significantly correlated with corresponding diagnoses of autism, ADHD, anxiety disorder, depressive disorder, scholastic difficulties, and neuropsychological difficulties where reported in the RDCRN and NHD cohorts. Conclusions Findings provide support for the reliability and validity of the CS, CSSmean and TTSSmean of the TAND-SQ and support their use in clinical decision-making for TAND management and in further research.