Clinical profiles of tuberous sclerosis complex: A regionally based survey
Abstract number :
2.121
Submission category :
16. Epidemiology
Year :
2025
Submission ID :
12
Source :
www.aesnet.org
Presentation date :
12/7/2025 12:00:00 AM
Published date :
Authors :
Presenting Author: Misae Yamada, MD – Nagoya University Graduate School of Medicine
Jun Natsume, MD,PhD – Nagoya University Graduate School of Medicine
Yuki Maki, MD,PhD – Nagoya University Graduate School of Medicine
Soichiro Ishimaru, MD,PhD – Fujita Health University School of Medicine
Shingo Numoto, MD,PhD – Aichi Medical University
Satoru Kobayashi, MD,PhD – Nagoya City University West Medical Center
Ayako Hattori, MD,PhD – Nagoya City University East Medical Center
Naoko Ishihara, MD,PhD – Fujita Health University School of Medicine
Yuji Ito, MD,PhD – Nagoya University Graduate School of Medicine
Hiroyuki Yamamoto, MD,PhD – Nagoya University Graduate School of Medicine
Tomohiko Nakata, MD,PhD – Nagoya University Graduate School of Medicine
Tetsushi Yoshikawa, MD,PhD – Fujita Health University School of Medicine
Shinji Saitoh, MD,PhD – Nagoya City University Graduate School of Medical Sciences
Akihisa Okumura, MD,PhD – Aichi Medical University
Yoshiyuki Takahashi, MD,PhD – Nagoya University Graduate School of Medicine
Hiroyuki Kidokoro, Lecturer – Nagoya University Graduate School of Medicine
Rationale: Tuberous sclerosis complex (TSC) causes non-malignant tumors and various lesions in multiple organs, and clinical variability is observed among patients. These can include cortical tubers, subependymal nodules, subependymal giant cell astrocytomas, and epilepsy. Understanding the clinical profiles of those in the general population with TSC is important to provide appropriate care for each patient. Few studies have incorporated data from all medical facilities that are accessible to patients within their region of residence. This study aimed to clarify the clinical profiles of patients with 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.
Methods: 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. A statistical analysis of the differences in the clinical characteristics among categories of medical facilities was conducted using the chi-square test or Fisher’s exact test.
Results: Information was obtained of 232 patients (mean age, 27 years; range, 1–81 years). Cortical tubers were present in 88%, epilepsy in 81%, autism spectrum disorder in 44%, and subependymal giant cell astrocytoma in 17%. Epilepsy was diagnosed in 182 (81%) patients. The most common types were focal epilepsy (54 patients, 30%) and transition from infantile epileptic spasms syndrome to other types (55 patients, 30%). Seventy-five patients (41%) were seizure-free at the time of the survey and 20% of patients had daily seizures. Eighty-eight patients (48%) had onset of epilepsy before one year of age. Rates of epilepsy with frequent seizures and autism spectrum disorder were both higher in patients cared for in institutions for handicapped children. In more than half of patients in institutions for handicapped children information on cranial MRI findings was not obtained.
Conclusions: Our regionally based study confirmed the clinical profiles previously reported in specialized hospitals for TSC and found that patients’ clinical characteristics differed among the types and sizes of medical facilities. In many patients cared for in institutions for handicapped children, their status was unknown regarding neuroimage findings, possibly because of the difficulty of performing examinations in patients with intellectual disability and/or autism spectrum disorder. Another possibility is that the examinations were performed in other hospitals and the results were not shared. Multicenter information sharing and collaboration between general hospitals and institutions for handicapped children are important for the comprehensive care of all patients with TSC.
Funding: none
Epidemiology