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Health-related quality of life and cognitive function in children with Crigler-Najjar syndrome type 1
Noha El-Anwar1, Mortada El-Shabrawi1, Ola Omar Shahin2
1Department of Paediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
Insights
Crigler-Najjar syndrome type I significantly impacts pediatric patients' quality of life and cognitive function. Poor phototherapy compliance correlates with lower quality of life, while exchange transfusions may improve cognitive function.
Area of Science:
- Pediatric Hepatology
- Rare Genetic Disorders
- Quality of Life Research
Background:
- Crigler-Najjar syndrome (CNS) type I is a rare genetic disorder affecting bilirubin metabolism.
- Patients with CNS type I experience significant health challenges impacting daily life.
- Understanding the health-related quality of life (HRQOL) and cognitive function is crucial for patient management.
Purpose of the Study:
- To assess the health-related quality of life (HRQOL) in pediatric patients with Crigler-Najjar syndrome (CNS) type I.
- To evaluate the cognitive function of these patients.
- To determine the impact of CNS type I on the overall well-being and daily lives of affected children.
Main Methods:
- A cross-sectional observational study involving 21 pediatric patients with CNS type I.
- HRQOL was assessed using the World Health Organization Quality Of Life BREF (WHOQOL-BREF) and Short Form 36 Health Survey (SF-36) questionnaires.
- Cognitive function was evaluated using the Stanford-Binet Intelligence Scale: Fifth Edition (SB5).
Main Results:
- Over half (52.4%) of patients reported a low quality of life (QOL) score.
- Poor compliance with phototherapy was significantly associated with lower QOL scores (p=0.001).
- Patients receiving exchange transfusions showed significantly higher cognitive function (p=0.03), and neurological complications correlated with poorer physical QOL.
Conclusions:
- Pediatric patients with CNS type I exhibit significantly diminished HRQOL, particularly in physical, psychological, and environmental domains.
- Routine HRQOL assessment should be integrated into the follow-up care of CNS patients.
- Affected patients benefit from psychiatric counseling, social support, and rehabilitation to manage the disease's impact.
Background:
The aim of the study was to assess the health-related quality of life (HRQOL) and cognitive function in patients with Crigler-Najjar syndrome (CNS) type I and its impact on their lives.
Methods:
Twenty-one patients diagnosed with CNS type I aged 1 month to 18 years in the Paediatric Hepatology Unit of Cairo University Children's Hospital were enrolled in this cross-sectional observational study. The patients' health-related quality of life (HRQOL) was assessed using the World Health Organization Quality Of Life BREF questionnaire (WHOQOL-BREF) and the Short Form 36 Health Survey Questionnaire (SF-36). Cognitive function was assessed using the Stanford-Binet Intelligence Scale: Fifth Edition (SB5).
Results:
All patients had a history of admission to a neonatal intensive care unit, 17 were managed by phototherapy only and 5 also underwent exchange transfusion. According to the WHOQOL questionnaire, 11 cases (52.4%) had a low QOL score, and 7 of 13 patients had an average score for their total IQ test. Cases with poor compliance to phototherapy had statistically significantly lower QOL scores (p=0.001), while, according to the SF36 survey, cases who received exchange transfusion had statistically significantly higher cognitive function (p=0.03). There was a positive correlation between the neurological effect as a complication of the disease and poor physical QOL.
Conclusion:
Paediatric patients with CNS have significantly lower HRQOL, especially physically, psychologically and environmentally. It is recommended that assessment of HRQOL should be a routine part of follow-up in CNS patients. Patients whose HRQOL is affected receive regular psychiatric counselling, social support and rehabilitation.Abbreviations: CNS: Crigler-Najjar syndrome; HRQOL: health-related quality of life; IQ: intelligence quotient; NICU: neonatal intensive care unit; QOL: quality of life; SB5: Stanford-Binet intelligence scale: 5th edition; SF-36: Short Form 36 Health Survey Questionnaire; UDGT: uridine diphosphate glucuronosyl transferase; UGT1A1: uridine 5'-diphosphate glucuronosyltransferase; WHOQOL-BREF: World Health Organization Quality of Life Brief Version.
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