The Burden Endured by Caregivers of Patients With Morquio A Syndrome

Hendriksz, Christian J.; Lavery, Christine; Çöker, Mahmut; Uçar, Sema Kalkan; Jain, Mohit; Bell, Lisa; Lampe, Christina

doi:10.1177/2326409814540872

Cited by 9 publications

(11 citation statements)

References 20 publications

(32 reference statements)

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“…MPS patients may show increased physical and emotional dependence on family and close relatives, reduced participation in educational and professional activities and social life, as well as low self-esteem. Thus, psychological, behavioral, mental health conditions, such as anxiety and depression can also be negatively influenced 4 . Visual and hearing impairments and frequent surgeries can further reduce physical activity and adversely affect the ability to live independently [5,6,7,8].…”

Section: Impact On Hrqol In Patients With Mpsmentioning

confidence: 99%

“…Considering that patients need a multidisciplinary care, it is plausible to assume that HRQoL is also influenced by the financial status of the families. Thus, the impact on HRQoL is mainly dependent upon the patient's ability to remain independently mobile and that even slight improvements in mobility dramatically improve quality of life [4].…”

Section: Evaluation Of Functional Aspectsmentioning

confidence: 99%

“…The PRO tools to evaluate both HRQoL and ADL are strongly needed to draw a panorama from the baseline condition of the patient and the putative effects of the current treatments, such as enzyme replacement therapy and hematopoietic steam cell transplant. Therefore, the use of PRO instruments is gathering information concerning what a patient with MPS has to face daily [4].…”

Section: Commentsmentioning

confidence: 99%

“…Clinical observations strongly suggest that patients with MPS suffer from chronic pain that affects all types of MPS [33,41]. As pain is able to negatively impact on HRQoL in adults and children is widely know [4,42,43], medical attention to this parameter is vital. In this regard, experts have proposed recommendations the management of pain in patients with MPS in Latin America [33,43] that are in accordance with the recommendations proposed herein.…”

Section: Commentsmentioning

confidence: 99%

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Recommendations for Assessment and Management of Health-Related Quality of Life in Patients with Mucopolysaccharidoses in Latin America

Giugliani

Fainboim

Kim

et al. 2019

J. inborn errors metab. screen.

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Mucopolysaccharidoses (MPS) constitute a heterogeneous group of rare genetic disorders caused by enzymatic deficiencies that lead to the accumulation of glycosaminoglycans (GAGs). Clinical observations suggest a health-related impairment in quality of life in patients with MPS. Professionals with extensive experience in the care of patients with inborn errors of metabolism, such as MPS, held a meeting in April 2017 to discuss and propose recommendations for the evaluation and management of quality of life in MPS patients in Latin America. In the light of this scenario, the present work summarizes the content of the discussions and presents the recommendations produced at the meeting. The panel had suggested the use of the following tools for the assessment of health-related quality of life (HRQoL): Children's Health Assessment Questionnaire (CHAQ) for children and patients unable to express their feelings, Health Assessments Questionnaire (HAQ) and EuroQol 5 Domains (EQ-5D) scales for adult patients. Based on the scores verified in these scales, the panel proposes interventions that aim reducing the impairment of the quality of life in patients with MPS disorders.

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Section: Impact On Hrqol In Patients With Mpsmentioning

confidence: 99%

Section: Evaluation Of Functional Aspectsmentioning

confidence: 99%

Section: Commentsmentioning

confidence: 99%

Section: Commentsmentioning

confidence: 99%

See 2 more Smart Citations

Recommendations for Assessment and Management of Health-Related Quality of Life in Patients with Mucopolysaccharidoses in Latin America

Giugliani

Fainboim

Kim

et al. 2019

J. inborn errors metab. screen.

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show abstract

“…As individuals with MPS have systemic characteristics of motor and neurological impairment, it is important to know how these characteristics affect quality of life. 5,13,15,16,17,18 To fill this gap in knowledge, the aim of the present study was to compare the perceptions of parents/ caregivers regarding the OHRQoL of young people with and without MPS.…”

Section: Introductionmentioning

confidence: 99%

Oral health-related quality of life of young people with mucopolysaccharidosis: a paired cross-sectional study

et al. 2020

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The purpose of the present study was to compare the perceptions of the parents/ caregivers of young people with and without Mucopolysaccharidosis (MPS) with regards to their oral health-related quality of life (OHRQoL). A cross-sectional study was conducted with 29 individuals with MPS and 29 normotypic individuals aged three to 21 years and their parents/caregivers. All parents/caregivers of young people with MPS in follow-up at two reference hospitals in the city of Belo Horizonte, southeastern Brazil, were invited to participate in the study. Individuals without MPS were recruited from the pediatric clinics of both hospitals. Parents/caregivers answered a structured questionnaire addressing the sociodemographic characteristics, behavioral habits and medical and dental history of the children as well as the Brazilian shortform version of the Parental-Caregiver (P-CPQ). The individuals with and without MPS were examined for malocclusion, dental caries and oral hygiene by an examiner who had undergone training and calibration exercises. Mean age of the subjects was 12.1 years (± 4.2). Comparing total P-CPQ scores and scores on the oral symptoms, functional limitations and wellbeing domains, the parents/caregivers individuos with MPS reported a statistically significant greater negative impact on OS domain than their counterparts. Regarding the clinical variables, malocclusion was also associated a greater negative impact on OHRQoL of young people with MPS when compared to those of young people without MPS. Our findings show the great negative impact caused by the malocclusion of young people with MPS.

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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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The Burden Endured by Caregivers of Patients With Morquio A Syndrome

Cited by 9 publications

References 20 publications

Recommendations for Assessment and Management of Health-Related Quality of Life in Patients with Mucopolysaccharidoses in Latin America

Recommendations for Assessment and Management of Health-Related Quality of Life in Patients with Mucopolysaccharidoses in Latin America

Oral health-related quality of life of young people with mucopolysaccharidosis: a paired cross-sectional study

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

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