Research of Tuberous Sclerosis Complex (TSC)-Associated Neuropsychiatric Disorders (TAND) in China.

BACKGROUND

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder. Neuropsychiatric manifestations (TSC-associated neuropsychiatric disorders [TAND]) are nearly universal and a key quality of life determinant but often overlooked.

OBJECTIVE

To adapt the validated TAND Checklist to Chinese, describe TAND profiles across age groups in Chinese TSC patients, and compare severity between TSC1 and TSC2 genotypes.

METHODS

Cross-sectional study of 311 consecutive patients meeting 2012 International TSC Consensus criteria. Data were collected March-December 2024 at two Chinese tertiary centers.

MAIN OUTCOMES AND MEASURES: TAND prevalence and profiles across six domains using the adapted Chinese TAND Checklist. Intellectual disability defined as IQ < 70.

RESULTS

No sex differences in TAND prevalence were found. Patients averaged eight behavioral problems; most common were mood swings (67.8%), language impairment/delay (67.5%), and inattention (64.6%). Of 152 with formal IQ testing, 68.4% had intellectual disability. Autism spectrum disorder (22.2%) was the most prevalent psychiatric diagnosis. School-aged children had prominent academic difficulties, especially in mathematics (64.3%). Top concerns were memory problems (56.3%) and family stress (52.7%). Children had more language, self-care, and attention problems and adults had more anxiety and depression. TAND features differed significantly between TSC1 and TSC2 genotypes (P < 0.05).

CONCLUSIONS

TAND was pervasive. The adapted Chinese TAND Checklist enabled systematic assessment. TSC2 variants were associated with more severe neuropsychiatric phenotypes. Routine TAND screening and genotype-aware, personalized management are warranted.