关键词: 结节性硬化症； 智力障碍； 神经精神障碍性疾病； 癫痫； 儿童

Abstract: Objective To explore the clinical high-risk factors of intellectual disability in tuberous sclerosis complex (TSC). Methods The clinical data of children aged 6 - 16 years old with TSC from December 2016 to November 2020 were retrospectively analyzed. The Wechsler Intelligence Scale for Children in Chinese was used to assess intellectual development, and the Mini International Neuropsychiatric Interview for Children (MINI-KID) was used to screen and diagnose TSC-associated neuropsychiatric disorders. Binary logistic regression analysis was used to find the high risk factors for intellectual disability. Results A total of 95 children were enrolled, and TSC1 /TSC 2 gene variation was detected in 85 cases ( 89 . 4 %), including 27 cases of TSC1 gene variation and 58 cases of TSC2 gene variation. Sixty-seven ( 70 . 5 %) children had an intellectual disability (IQ≤ 70 ). Epilepsy occurred in 76 children ( 80 . 0 %). Seventy-nine patients ( 83 . 2 %) suffered from TSC-associated neuropsychiatric disorders, and 16 kinds of neuropsychiatric disorders were identified. TSC-associated neuropsychiatric disorders, epilepsy, use of a greater number of antiepileptic drugs (≥ 2 ), an earlier age of epilepsy onset (< 2 years), more frequent seizure frequency (more than once a month) were closely related to the occurrence of intellectual disability (P< 0 . 05 ). Conclusions Intellectual disability is one of the most common and major characteristics of TSC. Neuropsychiatric disorders and epilepsy are high-risk factors for intellectual disability in children with TSC.

Key words: tuberous sclerosis complex; intellectual disability; neuropsychiatric disorders; epilepsy; child