Clinical Characteristics Shaping TAND Manifestations in Adult TSC: Insights for Targeted Screening
Sameh Almousa1, Nicholas Mallett5, Mary Silvia 4, Jane Boggs6, Theodore Stem4, Gagan Deep2, Kim Raab-Graham3, Roy Strowd7
1Department of Neurology, Department of Cancer Biology, 2Department of Cancer Biology, 5Sticht Center for Healthy Aging and Alzheimer’s Prevention, 3Sticht Center for Healthy Aging and Alzheimer’s Prevention, Department of Physiology and Pharmacology, Wake Forest School of Medicine, 4Wake Forest School of Medicine, 5Department of Neurology, Vanderbilt University Medical Center, 6Wake Forest University neurology, 7Wake Forest School Of Medicine
Objective:
This study aims to delineate clinical markers associated with TSC-Associated Neuropsychiatric Disorders (TAND) symptoms in adult Tuberous Sclerosis Complex (TSC) patients, aiming to enhance TAND evaluation and interventions.
Background:
TAND is a multifaceted complex of symptoms spanning cognitive, behavioral, and psychiatric that occur in patients with TSC. While TAND is well-documented, comprehensive evaluation in adults remains critical. This study endeavors to identify clinical characteristics that warrant heightened screening for specific TAND manifestations, particularly in adults who face unique challenges.
Design/Methods:
Adults with TSC were enrolled in a cross-sectional study of TAND symptoms. The TAND Checklist was utilized to screen. Stratification was based on clinical attributes including epilepsy, subependymal nodules (SEN), subependymal giant cell astrocytoma (SEGA), verbal status, impaired language (non-verbal or simple language), intellectual disability (ID), and multisystem TSC disease burden. TAND frequencies and impact ratings were examined and compared across these strata. Significance was defined as p<0.05; multiple comparison correction was performed.
Results:
26 patients were enrolled and completed TAND screening (age range: 22-70, 65% female). The most frequent TAND manifestations were behavioral difficulties, anxiety disorder, intellectual development challenges, academic difficulties, and neuropsychological difficulties. TAND symptoms were similarly prevalent in patients with and without a diagnosis of epilepsy. Patients with a history of SEGA exhibited higher frequencies of autism spectrum disorder (ASD) diagnosis. Patients with impaired language exhibited significantly higher frequencies of TAND manifestations across multiple levels. Patients with ID exhibited markedly elevated frequencies of behavioral, academic, and neuropsychological level TAND manifestations compared to those without ID.
Conclusions:
Impaired language and intellectual disability emerged as the most pertinent indicators for patients who may benefit from heightened TAND screening. Focusing on these characteristics could optimize resource allocation and target interventions at behavioral, academic, and neuropsychological level difficulties, thereby enhancing the quality of care for adults with TSC.