Clinical profiles of tuberous sclerosis complex: A regionally based survey.

This study looked at 232 people with tuberous sclerosis complex (TSC) in Japan to understand common symptoms and health issues. Most people had brain changes (88%) and epilepsy (81%), while 44% had autism. The study found that people in disability care facilities had more severe seizures and autism, but often missed important brain scans. Better cooperation between hospitals and care facilities is needed to help people with TSC get the best care.

This large-scale regional survey examined clinical profiles of 232 patients with tuberous sclerosis complex (TSC) across different medical facility types in Japan. The study found TSC prevalence of 3.1 per 100,000, with cortical tubers present in 88% of patients, epilepsy in 81%, and autism spectrum disorder in 44%. Subependymal giant cell astrocytoma occurred in 17% of cases. Over half of patients had hypomelanotic macules, facial angiofibroma, renal angiomyolipoma, and cardiac rhabdomyoma.

Patients in institutions for handicapped children showed higher rates of frequent seizures and autism spectrum disorder, but often lacked complete neuroimaging information. The findings highlight the need for improved collaboration between specialized hospitals and care institutions to ensure comprehensive TSC management.

Results emphasize need for standardized TSC care protocols across all facility types. Enhanced collaboration between specialized hospitals and disability care institutions is essential. Systematic neuroimaging monitoring should be implemented for all TSC patients regardless of care setting to ensure comprehensive management.

Study design not specified in abstract. Limited to one Japanese region which may affect generalizability. Potential selection bias across different facility types. Missing neuroimaging data in some patient groups reduces completeness of clinical profiling.

This study aimed to clarify the clinical profiles of patients with tuberous sclerosis complex (TSC) in the general population by a regionally based survey of medical facilities in a region with 7.5 million residents, and investigate differences in clinical profiles according to medical facility size and type. A survey was sent to 146 hospitals and clinics regarding clinical profiles of patients with TSC who lived in Aichi Prefecture, Japan, between 2013 and 2018. Medical facilities were classified as large hospitals (≥750 beds or a children's hospital), small hospitals (<750 beds), institutions for handicapped children, and private clinics. Information was obtained of 232 patients (median age, 25 years; range, 1-81 years).

Estimated prevalence of TSC was 3.1 per 100,000. Cortical tubers were present in 88 %, epilepsy in 81 %, autism spectrum disorder in 44 %, and subependymal giant cell astrocytoma in 17 %. Hypomelanotic macules, facial angiofibroma, renal angiomyolipoma, and cardiac rhabdomyoma were present in >50 % of patients. Rates of epilepsy with frequent seizures and autism spectrum disorder were both higher in patients in institutions for handicapped children.

In more than half of patients in institutions for handicapped children information on cranial MRI findings was not obtained. Our regionally based study confirmed the clinical profiles previously reported in specialized hospitals for TSC and found that clinical characteristics differed among the types and sizes of medical facilities. Multicenter information sharing and collaboration between general hospitals and institutions for handicapped children are important for the comprehensive care of patients with TSC.