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. 2021 Dec 13;13(1):60.
doi: 10.1186/s11689-021-09408-8.

Symptom rates and profile clustering in tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)

Samuel Alperin  1   2 , Darcy A Krueger  3   4 , David N Franz  3   4 , Karen D Agricola  3   4 , Gabrielle Stires  3   4 , Paul S Horn  3   4 , Jamie K Capal  5
Affiliations

Symptom rates and profile clustering in tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)

Samuel Alperin et al. J Neurodev Disord. .

Abstract

Background: Tuberous Sclerosis Complex (TSC) is associated with a range of neuropsychiatric difficulties, appropriately termed TSC-Associated Neuropsychiatric Disorders (TAND). The objectives of the study were to analyze the rates of TAND symptoms in a cohort of patients seen at the TSC Center of Excellence at Cincinnati Children's Hospital and to identify clinically meaningful profiles based on TAND symptoms.

Methods: Data from the TAND Checklist was obtained from participants seen at the TSC Center of Excellence at Cincinnati Children's Hospital Medical Center from June 2015 to August 2018. Cluster and factor analyses for each TAND symptom were performed. Factor scores were then calculated for participants, and a K-means cluster analysis of these scores was used to empirically identify distinct overall TAND symptom profiles occurring in TSC.

Results: A total of 1545 checklists was completed for 668 participants (37% adults and 63% children). Approximately 90% of participants reported at least one TAND symptom with an average of 12 symptoms (out of 29). Symptom rates ranged between 5 and 60%. The most common symptoms were neuropsychologic symptoms. A seven-cluster and seven-factor solution were found to be optimal. K-means cluster analysis resulted in a seven-profile solution, ranging from low to high symptom burden.

Conclusion: This study is the first to identify natural phenotypic profiles of TAND symptoms. Study of specific TAND subpopulations with shared profiles may facilitate better understanding of the underlying biology of TAND and better assessment of more targeted treatments.

Keywords: Intellectual disability; TSC-associated neuropsychiatric disorders (TAND); Tuberous sclerosis complex.

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Conflict of interest statement

Samuel Alperin, Karen D. Agricola, Gabrielle Stires, and Paul S. Horn have no disclosures. Darcy Krueger reports consulting fees and/or research support from Novartis Pharmaceuticals, TS Alliance, Druggability Technologies, Greenwich Biosciences, and Marinus Pharmaceuticals. Dr. Krueger also has received speaking fees from Novartis Pharmaceuticals and Greenwich Biosciences. David N. Franz reports travel support and honoraria from Novartis (more than 2 years ago). His employer has also received support for clinical trials and consulting work from Novartis (more than 2 years ago). Jamie K. Capal receives research support from Roche.

Figures

Fig. 1
Fig. 1
Cluster analysis (Cronbach alpha is on the right)
See this image and copyright information in PMC

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