An online survey of burden of illness in families with mucopolysaccharidosis type II children in the United States

Conner, TM; Cook, Francesca; Fernandez, Vivian; Rangel-Miller, Vanessa

doi:10.1016/j.ymgmr.2019.100499

Cited by 12 publications

(18 citation statements)

References 12 publications

(22 reference statements)

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“…Time spent caring was considered in six studies and ranged from 9.4 to 4.4 hours per day on average. 25,26,65 Differences in reporting hours and increased time could be due to the age range used in studies, as parents reported a higher care burden children age and require more support, such as the use of a wheelchair (eg, 40,63).…”

Section: Quantitative Datamentioning

confidence: 99%

A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder

Hassall

Smith

Rust

et al. 2022

J of Inher Metab Disea

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Lysosomal storage disorders are rare multiorgan, degenerative conditions requiring invasive treatment. Rare disorders pose unique challenges; therefore, exploring their impact is crucial for understanding family needs. This novel review aimed to understand the psychosocial outcomes for parents of children with lysosomal storage disorders. Five electronic databases were systematically searched. Thirty‐eight (23 qualitative, 10 qualitative and 5 mixed methods) studies were included, analysed using a sequential explanatory narrative synthesis and appraised for their methodological quality. Quantitative data revealed the multifaceted impact on parents' psychological and social wellbeing. Qualitative data informed the challenges that these parents faced which were expressed within three main themes: (a) Uncertainty and the unknown, (b) All‐encompassing impact and (c) Finding a way forward. The synthesis demonstrated that factors associated with the condition (symptoms, behaviour and severity) had a substantial negative impact on parental outcomes, upheld by concurrent loss (deterioration and poor prognosis) and uncertainty. This substantive integrated review revealed considerable unmet parental psychosocial needs.

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Section: Quantitative Datamentioning

confidence: 99%

A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder

Hassall

Smith

Rust

et al. 2022

J of Inher Metab Disea

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“…Our study has several limitations as well. Firstly, the sample size was notably small, but similar with other studies among the patients with LSDs and could be acceptable considering that the study was only conducted in a single city (30,31). Our study included around 50.8% (31/61) of the total samples based on our preliminary interviews with doctors and rare diseases organizations.…”

Section: Discussionmentioning

confidence: 93%

The usage of enzyme replacement treatments, economic burden, and quality of life of patients with four lysosomal storage diseases in Shanghai, China

Zhu

et al. 2021

IRDR

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Rare diseases, lysosomal storage diseases, enzyme replacement treatment, patient survey, quality of life, disease burden, Shanghai Lysosomal storage diseases (LSDs) are a group of rare diseases that cause progressive physical dysfunction and organ failure, which significantly affected patients' quality of life. The objective of this study was to explore the characteristics and usage of Enzyme Replacement Treatments (ERTs), which is the only specific therapy for LSDs, of patients with the four different LSDs (Gaucher, Fabry, Pompe disease and Mucopolysaccharidosis) in Shanghai, and then evaluate the economic burden and quality of life of these patients. A total of 31patients, involving 5, 14, 4 and 8 patients with Gaucher, Fabry, Pompe disease and Mucopolysaccharidosis, respectively, were included in analysis. The result showed that only five Gaucher disease (GD) patients in Shanghai used Imiglucerase in 2019, while the other 26 patients with the other three LSDs did not receive ERTs. The total health expenditure of GD patients was 2,273,000CNY on average mainly resulted by the high cost of Imiglucerase. The total health expenditure of the other 26 patients was 37,765CNY on average. Though the cost-sharing mechanism between basic medical insurance, charity fund and patients had been explored for Gaucher disease in Shanghai, the out-of-pocket part, which was 164,301 CNY, still laid a heavy economic burden on the patients and their families. The mean EQ-VAS score of GD patients was 76.4 ± 15.5, which was higher than that of the other three LSDs. It is recommended that the scope of drug reimbursement list and the reimbursement level should be further expanded and raised to help improve the living conditions of patients with LSDs.

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“…Symptoms management in Hunter syndrome can be difficult and prone to complications. Medical visits and hospital admissions are commonly seen in children with the disease [11]. Surgery is frequent in early years of age [3].…”

Section: Discussionmentioning

confidence: 99%

Hunter syndrome revisited

Gheorghe¹,

Zamfir-Chiru-Anton²,

Ene³

et al. 2020

Ro Med J.

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An online survey of burden of illness in families with mucopolysaccharidosis type II children in the United States

Cited by 12 publications

References 12 publications

A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder

A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder

The usage of enzyme replacement treatments, economic burden, and quality of life of patients with four lysosomal storage diseases in Shanghai, China

Hunter syndrome revisited

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