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

Yifeng Ding1, Ji Wang1, Yuanfeng Zhou1

  • 1Department of Neurology, Children's Hospital of Fudan University, Shanghai, China.

CNS Neuroscience & Therapeutics
|November 23, 2020
PubMed

Insights

Quality-of-life in children with tuberous sclerosis complex (TSC) in China is significantly impaired compared to healthy controls. Risk factors for poor quality-of-life include TSC2 mutations, epilepsy, intellectual disability, and TSC-associated neuropsychiatric disorders.

Area of Science:

  • Pediatric Neurology
  • Quality of Life Research
  • Genetic Disorders

Background:

  • Tuberous sclerosis complex (TSC) is a genetic disorder affecting multiple organs.
  • Quality of life (QOL) is a crucial outcome measure in chronic pediatric conditions.
  • Limited data exists on QOL for Chinese children with TSC.

Purpose of the Study:

  • To evaluate QOL impairment in Chinese children with TSC.
  • To identify risk factors associated with reduced QOL in this population.

Main Methods:

  • A cross-sectional study utilizing the PedsQL 4.0 Generic Core Scales.
  • Parent proxy-reports were collected from 124 caregivers of children with TSC (aged 2-18).
  • A demographically matched group of 206 healthy controls (HCs) was included for comparison.

Main Results:

  • Children with TSC exhibited significantly lower QOL scores across total, physical, and psychosocial health domains compared to HCs (P < .0001).
  • Identified risk factors for lower QOL included TSC2 mutations, epilepsy (early onset, long duration, high seizure frequency), intellectual disability, and TSC-associated neuropsychiatric disorders (TANDs).
  • Specific TANDs associated with poorer QOL included ADHD, agoraphobia, and social anxiety disorder.

Conclusions:

  • This study represents the first large cohort analysis of QOL in Chinese children with TSC.
  • Children with TSC experience significantly diminished QOL compared to their healthy peers.
  • Early identification and management of risk factors like epilepsy, intellectual disability, and TANDs are crucial for improving QOL in children with TSC.
Abstract

Keywords:
PedsQLTSCchildepilepsygeneric core scalehealth

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