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Measuring Endoreduplication by Flow Cytometry of Isolated Tuber Protoplasts
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Quality of life of children with tuberous sclerosis complex

Choong Yi Fong1, Kexin Ng1, Ann Nie Kong1

  • 1Division of Paediatric Neurology, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.

Archives of Disease in Childhood
|May 25, 2019
PubMed

Insights

Malaysian children with tuberous sclerosis complex (TSC) experience significantly impaired quality of life (QOL), especially in psychosocial health. Internalizing behaviors, older age, Chinese ethnicity, and multiple antiepileptic drugs increase this risk.

Area of Science:

  • Pediatrics
  • Quality of Life Research
  • Genetics and Rare Diseases

Background:

  • Tuberous sclerosis complex (TSC) is a genetic disorder affecting multiple organs, often leading to significant health challenges and impacting quality of life (QOL) in affected children.
  • Limited data exists on the QOL of Malaysian children diagnosed with TSC and the specific factors contributing to their well-being.

Purpose of the Study:

  • To evaluate the quality of life (QOL) in Malaysian children with tuberous sclerosis complex (TSC).
  • To identify sociodemographic, medical, behavioral, and parenting stress factors associated with impaired QOL in these children.

Main Methods:

  • A cross-sectional study involving 68 parents of Malaysian children (aged 2-18 years) with TSC.
  • QOL was assessed using the proxy-report Pediatric Quality of Life Inventory (PedsQL) V.4.0.
  • Child behavior (Child Behavior Checklist - CBCL) and parenting stress were also evaluated, with multiple regression analysis used to identify risk factors.

Main Results:

  • Children with TSC demonstrated significantly lower PedsQL scores across all domains compared to healthy children, with psychosocial health being most affected.
  • Lower QOL scores were associated with internalizing behavior problems (CBCL), older age (8-18 years), Chinese ethnicity, and use of more than one antiepileptic drug (AED).

Conclusions:

  • Children with TSC experience substantial QOL impairment, particularly in psychosocial functioning.
  • Identifying children with TSC who are older, exhibit internalizing behaviors, are of Chinese ethnicity, or are on multiple AEDs is crucial for proactive QOL management.
Abstract

Keywords:
QOLbehaviourpsychosocial healthquality of lifetuberous sclerosis

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