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

Abstract

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.

Evaluating Health-related Quality of Life Among Tuberous Sclerosis Complex Individuals Using Health Utilities Index: a Local Study and Comparison With Existing Data

“…Of note, epilepsy was found to be an independent predictor for poorer HRQoL in Ding Y et al's study, which targeted children with TSC (30), but not in our study which targeted adult and pediatric TSC patients. This may be related to the proxy-reported nature of questionnaires used in evaluating QoL of children.…”

“…There are two recent studies conducted in Asia assessing the QoL of TSC patients in Malaysia and mainland China respectively (29,30). We compared these two studies with our study and identi ed 3 distinctive differences.…”

“…Data regarding HRQoL in Asian TSC population is limited. Two cross-sectional studies evaluated the QoL of TSC patients using PedsQL in China and Malaysia respectively, but their study populations were limited to the pediatric age group (29,30). Another retrospective analysis study documented the QoL of postepileptic surgery TSC patients in China (31).…”

Assessment of tuberous sclerosis-associated neuropsychiatric disorders using the MINI-KID tool: a pediatric cohort study

“…The panel de ned six levels of investigation: behavioral, psychiatric, intellectual, academic, neuropsychological, and psychosocial level [2,3]. Neurological and psychiatric complications and kidney disease are often the greatest burdens imposed by TSC, but TAND have not been given enough attention [4,5]. A 2010 survey of members of the British Tuberous Sclerosis Association revealed that only 18% of TSC patients had been assessed or treated for neuropsychiatric disorders [6].…”

Prenatal diagnosis and intervention improve developmental outcomes and epilepsy prognosis in children with tuberous sclerosis complex

“…Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease associated with a variety of neurological symptoms, such as epilepsy and developmental disorders, including learning problems and autism spectrum disorder 1–5 . These neurological symptoms constitute the main burden of the disease and seriously affect the quality of life of individuals with TSC 6 …”