Health-related quality of life and cognitive function in children with Crigler-Najjar syndrome type 1.

IF 1.4 4区医学 Q3 PEDIATRICS

Paediatrics and International Child Health Pub Date : 2024-05-01 Epub Date: 2024-02-09 DOI:10.1080/20469047.2024.2309727

Noha El-Anwar, Mortada El-Shabrawi, Ola Omar Shahin, Reem Abdel Kareem, Ahmed Mohamed Salama, Sherif Baroudy

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引用次数: 0

Abstract

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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克里勒-纳贾尔综合征 1 型儿童的健康相关生活质量和认知功能。

研究背景本研究旨在评估克里勒-纳贾尔综合征（CNS）I型患者的健康相关生活质量（HRQOL）和认知功能及其对生活的影响：这项横断面观察研究招募了 21 名开罗大学儿童医院儿科肝病科确诊的 CNS I 型患者，他们的年龄在 1 个月至 18 岁之间。患者的健康相关生活质量（HRQOL）使用世界卫生组织生活质量BREF问卷（WHOQOL-BREF）和简表36健康调查问卷（SF-36）进行评估。认知功能采用斯坦福-比奈智力测验量表第五版（SB5）进行评估：结果：结果：所有患者都曾入住新生儿重症监护病房，其中17名患者仅接受了光疗，5名患者还接受了交换性输血。根据 WHOQOL 问卷调查，11 例患者（52.4%）的 QOL 得分较低，13 例患者中有 7 例的总智商测试得分为平均分。据统计，光疗依从性差的病例其 QOL 得分明显较低（P=0.001），而根据 SF36 调查，接受交换性输血的病例其认知功能明显较高（P=0.03）。作为疾病并发症的神经系统影响与身体 QOL 差之间存在正相关：结论：患有中枢神经系统疾病的儿科患者的 HRQOL 明显较低，尤其是在身体、心理和环境方面。建议将评估 HRQOL 作为中枢神经系统患者随访的常规部分。HRQOL 受影响的患者应定期接受心理咨询、社会支持和康复治疗：缩写：CNS：Crigler-Najjar 综合征；HRQOL：与健康相关的生活质量；IQ：智商；NICU：新生儿重症监护室；QOL：生活质量；SB5：斯坦福-比奈智力测验量表：第 5 版；SF-36：UDGT：二磷酸尿苷葡萄糖醛酸转移酶；UGT1A1：5'-二磷酸尿苷葡萄糖醛酸转移酶；WHOQOL-BREF：世界卫生组织生活质量简易版：世界卫生组织生活质量简明版。

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来源期刊

Paediatrics and International Child Health PEDIATRICS-

CiteScore

3.30

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Paediatrics and International Child Health is an international forum for all aspects of paediatrics and child health in developing and low-income countries. The international, peer-reviewed papers cover a wide range of diseases in childhood and examine the social and cultural settings in which they occur. Although the main aim is to enable authors in developing and low-income countries to publish internationally, it also accepts relevant papers from industrialised countries. The journal is a key publication for all with an interest in paediatric health in low-resource settings.