The impact of Hunter syndrome (mucopolysaccharidosis type II) on health-related quality of life

Abstract

BackgroundHunter syndrome (mucopolysaccharidosis type II (MPS II)) is a rare metabolic disease that can severely compromise health, well-being and life expectancy. Little evidence has been published on the impact of MPS II on health-related quality of life (HRQL). The objective of this study was to describe this impact using the Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) questionnaire and a range of standard validated questionnaires previously used in paediatric populations.MethodsClinical and demographic characteristics collected in a clinical trial and responses to four HRQL questionnaires completed both by patients and parents prior to enzyme replacement treatment were used. The association between questionnaire scores and clinical function parameters were tested using Spearman rank-order correlations. Results were compared to scores in other paediatric populations with chronic conditions obtained through a targeted literature search of published studies.ResultsOverall, 96 male patients with MPS II and their parents were enrolled in the trial. All parents completed the questionnaires and 53 patients above 12 years old also completed the self-reported versions. Parents’ and patients’ responses were analysed separately and results were very similar. Dysfunction according to the HS-FOCUS and the CHAQ was most pronounced in the physical function domains. Very low scores were reported in the Self Esteem and Family Cohesion domains in the CHQ and HUI3 disutility values indicated a moderate impact. Scores reported by patients and their parents were consistently lower than scores in the other paediatric populations identified (except the parent-reported Behaviour score); and considerably lower than normative values.ConclusionsThis study describes the impact on HRQL in patients with MPS II and provides a broader context by comparing it with that of other chronic paediatric diseases. Physical function and the ability to perform day-to-day activities were the most affected areas and a considerable impact on the psychological aspects of patients’ HRQL was also found, with a higher level of impairment across most dimensions (particularly Pain and Self Esteem) than that of other paediatric populations. Such humanistic data provide increasingly important support for establishing priorities for health care spending, and as a component of health economic analysis.

Toward a Core Outcome Set for Head, Neck, and Respiratory Disease in Mucopolysaccharidosis Type II: Systematic Literature Review and Assessment of Heterogeneity in Outcome Reporting

“…It is important to note that only 2 publications and 2 clinical trials considered QoL as an outcome. 20,24 One of the publications was a systematic review that established QoL as one of its secondary outcomes. However, only 1 publication subsequently fulfilled the criteria to be included in the systematic review 18 and in that study QoL was not measured.…”

“…Mucopolysaccharidosis type II has been shown to be associated with significant impact on the QoL of both patients and their families. 24,27 Raluy-Callado et al used the Health Utility Index (HUI) which specifically investigated the impact of disease on hearing. They have shown that hearing is the biggest deficiency suffered by patients with MPS type II in agreement with previous publications.…”

Development and validation of a modified performance-oriented mobility assessment tool for assessing mobility in children with hypophosphatasia

“…The mPOMA-G showed strong concurrent validity with other validated measures of disability, activities of daily living, and physical function, which is important given that children’s usual daily activities and their performance in age-appropriate settings may be evaluated more effectively using $⩾$ 2 outcome measures [15]. The CHAQ and PODCI have been used frequently in children and adolescents with other conditions that affect bone, muscle, and physical activity [15, 16, 17, 18]. The PODCI and mPOMA-G association was stronger for PODCI Sports and Physical Function than Transfer and Basic Mobility, which measures shorter distance ambulation, such as climbing 1 flight of stairs and simple transfers, and had a ceiling effect for some patients with scores above the normative mean of 50 ($\pm$ 10) [15, 19].…”

Neumonía necrotizante asociada a infección por influenza A H1N1 en un niño con mucopolisacaridosis tipo II. Caso clínico

“…4 El considerable declive neurológico de los pacientes con la forma grave, quienes constituyen el 75% del total de casos reportados, 5 lleva a retardo mental, desórdenes conductuales y regresión del desarrollo, como fue evidenciado en nuestro paciente.…”