Abstracts

Rationale: To characterize the neuropsychiatric profile of Tuberous Sclerosis Complex (TSC) patients with an emphasis on the behavioral, cognitive, and academic problems highlighted in the TAND (TSC–Associated–Neuropsychiatric–Disorders) Checklist. Previous studies have reported up to 90% of patients with TSC experience complex neuropsychiatric comorbidities that impact daily functioning, including disorders of emotional and behavioral regulation, social cognition (e.g., autism spectrum disorder [ASD]), and intellectual and learning disabilities. The current study is a preliminary report of prevalence of these comorbidities in patients diagnosed with TSC that underwent neuropsychological assessment as part of clinical care. Methods: Forty-four TSC patients evaluated between 2013 and 2017 were identified through archival record review. Mean age was 8 years old (range 3-19). Percentage of comorbid diagnoses were calculated. Spearman's rank order correlations were calculated to explore the relationship between IQ and neuropsychiatric comorbidities. Results: Seventy-three percent of the sample presented with at least one neuropsychiatric comorbidity. The group’s IQ was estimated to be in Borderline range (mean = 73; SD = 25.02). Eighteen patients (41%) met diagnostic criteria for intellectual disability based on IQ less than 70, with half of those estimated to be in the severe to profound range of impairment. Approximately one-third of the patients had IQ within or above the Average range. Disruptive behaviors, presenting as aggression, oppositionality and/or conduct disorders, were the most common TAND comorbidity following intellectual disability (32%). Thirteen patients (30%) were diagnosed with ASD, and this was strongly associated with intellectual disability (77%). ADHD and specific learning disabilities were identified in 16% and 20% of the sample, respectively, with ADHD identified as the most common comorbidity in patients with Average intelligence. Thirty percent of patients were identified as having problems with anxiety or depression. Conclusions: Our study is consistent with previous findings indicating a significant risk of neuropsychiatric comorbidities in most TSC patients. Generalized cognitive deficits (i.e., intellectual disability) were found to significantly increase the risk of TAND, especially for disruptive behaviors and ASD. In contrast, ADHD, specific learning disabilities, and anxiety/depression were most common in patients with normal intelligence. The high rates and degree of environmental impact of these conditions, even in patients with normal intelligence, indicate the need for close monitoring of neuropsychiatric development in TSC. Funding: NIH: 1R01NS079788-01A1