Quality of life in children with tuberous sclerosis complex: A pediatric cohort study

AIMS: To evaluate the quality‐of‐life (QOL) impairment and identify the possible risk factors in patients with tuberous sclerosis complex (TSC) in China. METHODS: The parent proxy‐report PedsQL 4.0 Generic Core Scales were administered to 124 caregivers of children with TSC (aged 2‐18 years). For comparison, the survey was also conducted in a demographically group‐matched sample of healthy controls (HCs) (aged 2‐18 years). RESULTS: A total of 124 children with TSC and 206 HCs were recruited. The mean parent proxy‐report total scale score, physical health summary score, and psychosocial health summary score for children with TSC were 65.0 (SD 19.7), 77.6 (SD 22.9), and 58.0 (SD 21.3), respectively, compared with the HC values of 83.6 (SD 14.3), 87.2 (SD 16.9), and 82.8 (SD 15.9). There were statistically significant differences between the two groups (P < .0001). TSC2 mutation (P = .033), epilepsy (P = .011), seizure before 2 years old (P = .001), course of epilepsy (more than 2 years) (P = .001), high reported seizure frequency (more than once a month) (HRSF) (P = .007), multiple antiepileptic drugs (≥2) (P = .002), intellectual disability (ID) (mild and moderate ID, P < .0001, and severe and profound ID, P < .0001), and TANDs (P < .0001) (ADHD, P = .004; agoraphobia, P = .007; and social anxiety disorder, P < .0001) were closely related to lower QOL scores. CONCLUSION: This study is the first large cohort study on QOL in children with TSC in China. The results of the PedsQL 4.0 indicated that the QOL of children with TSC is significantly lower than that of HCs. TSC2 mutation, epilepsy, early onset, long disease course and HRSF, ID, and TANDs are risk factors for poor QOL.