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

Pediatr Neurol. 2026 Jun 1;181:148-157. doi: 10.1016/j.pediatrneurol.2026.05.013. Online ahead of print.

ABSTRACT

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.

PMID:42335523 | DOI:10.1016/j.pediatrneurol.2026.05.013