Abstracts

Tuberous sclerosis complex (TSC) is a genetic disorder with multi-organ involvement and a frequent cause of drug resistant epilepsy. Tuberous Sclerosis Associated Neuropsychiatric Disorder (TAND) is reported up to 90% of individuals with TSC. The TAND Checklist can be used to screen patients. We aimed to evaluate the feasibility of a parent completed TAND Checklist to determine the most frequent neuropsychiatric manifestation and any intervention.

23 patients with TSC were included. Age at seizure onset (2.05 years, SD±2.8188) preceded the age at diagnosis of TSC (2.98 years, SD±3.9799). The main seizure types were infantile spasm (7/17) and focal motor (8/17). Polytherapy was present (12/17). 22 had abnormal brain MRI. 20 families filled TAND Checklist at first TSC clinic. Language related barrier was present (2/23). 19 patients had associate neuropsychiatric disorders based on TAND Checklist.  12 had psychiatric disorder: anxiety (7/12), ADHD (4/12), ASD (3/12) and depression (1/12). 6 patients had behavioural concern, the most common were aggressiveness (3/6) and mood swings (3/6). 9 patients had intellectual delay. Discussion regarding the most significant concerns found was done with all of them. Intervention done included providing resources (4/19), referrals to specific service (8/19), and both in 8/19. At follow up, symptoms were stable or improved in 9/19 and worsened in 10/19.

Parental completion of the TAND checklist during a clinic visit is feasible for most patients and identifies neuropsychiatric symptoms. Although resources were provided to all patients, the majority showed worsening at follow-up, suggesting that a significant gap in care exists in the management of this complex neuropsychiatric condition.