Late-onset Pompe disease primarily affects quality of life in physical health domains

Neurology ◽  
2004 ◽  
Vol 63 (9) ◽  
pp. 1688-1692 ◽  
Author(s):  
M. L.C. Hagemans ◽  
A. C.J.W. Janssens ◽  
L. P.F. Winkel ◽  
K. A. Sieradzan ◽  
A. J.J. Reuser ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Physical Health ◽  
Pompe Disease ◽  
Late Onset ◽  
Health Domains

scholarly journals Quality of Life in Caregivers of Children and Adolescents with Autistic Spectrum Disorder: Development and Validation of the Questionnaire

2021 ◽  
Vol 11 (7) ◽  
pp. 924
Author(s):  
Claudia B. Pratesi ◽  
Alessandra Baeza Garcia ◽  
Riccardo Pratesi ◽  
Lenora Gandolfi ◽  
Mariana Hecht ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Physical Health ◽  
Children And Adolescents ◽  
Internal Consistency ◽  
Autistic Spectrum Disorder ◽  
Spectrum Disorder ◽  
Autistic Spectrum ◽  
The Social ◽  
Health Domains

Studies have shown that children and adolescents with autism and their relatives present a high level of stress and more family problems, impacting parents’ and caregivers’ quality of life (QoL). Despite studies on this subject, there is no specific questionnaire to evaluate QoL in parents or caregivers of children and adolescents with an autistic spectrum disorder (ASD) in Brazil. Therefore, this study’s primary purpose was to develop and validate a specific questionnaire to evaluate QoL in these individuals. The study was performed using the following steps: development of the ASD Parent/caregiver QoL questionnaire (autistic spectrum disorder parent/caregiver quality of life—ASDPC-QoL), subjective evaluation, validation of the questionnaire by the Delphi method, assessment of internal consistency, responsiveness, and reliability of the ASLPC-QoL, and administration of the questionnaire to 881 Brazilian ASD caregivers or parents. ASDPC-QoL comprises 28 questions divided into four domains (social, concerns, physical and mental health) with good psychometric properties (reproducibility, reliability, internal consistency, responsiveness, and validity). Our data showed that worries and physical health were the domains with the lowest scores in ASDPCA-QoL. ASDPCA-QoL did not differ among gender and age of child considering the total and all domains. Older participants (≥41 y/o) presented the best scores for social and worries domains but did not differ in other domains and the total. Parents or caregivers of ASD children diagnosed for more than three years have better mental and physical health domains than those recently diagnosed (up to 1 year) but did not differ in the total and other domains. Individuals with a partner and with the highest educational level present the best score for the social domain. Employed individuals showed better scores than unemployed ones for all domains and the total, except for worries, which did not differ. It also occurred comparing the individuals that do not use antidepressants and the ones that use them. Assessing and better understanding the QoL of caregivers is highly relevant. By understanding the social, worries, physical, and emotional health domains of caregivers, it is possible to track harmful aspects, prevent and treat pathologies, in addition to assisting in the implementation of effective public policies.

scholarly journals Effects of Exercise Training on Functional Capacity and Quality of Life in a Patient with Late-Onset Pompe Disease Receiving Enzyme Replacement Therapy

2015 ◽  
Vol 2 (s1) ◽  
pp. S33-S33
Author(s):  
Rosângela M. Silva ◽  
Carmen S.C. Mendes ◽  
Carolina C. Aranda ◽  
Marco A. Curiati ◽  
Maret H. Rand ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Exercise Training ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Functional Capacity ◽  
Pompe Disease ◽  
Late Onset ◽  
Enzyme Replacement

scholarly journals Quality of life and its contributors among adults with late-onset Pompe disease in China

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Shanquan Chen ◽  
Jingxuan Wang ◽  
Jianfeng Zhu ◽  
Roger Yat-Nork Chung ◽  
Dong Dong
Keyword(s):  
Quality Of Life ◽  
Social Support ◽  
Physical Health ◽  
Environmental Health ◽  
Social Relationships ◽  
Psychological Health ◽  
Late Onset ◽  
Assistive Devices ◽  
Chinese Patients

Abstract Background Pompe disease (PD) is a rare inherited disorder caused by the deficiency of acid-α glucosidase, which leads to the impairment of organ and tissue functions and causes disabilities. As the first national survey on patients with late-onset PD (LOPD) in China, this study investigated the quality of life (QOL) of adult patients with LOPD in China and explored its contributors. Methods Data were derived from a nation-based, cross-sectional, self-response survey on rare diseases (RDs) in early 2018. Answers from 68 adult Chinese patients with LOPD were used for data analysis. QOL was measured using the World Health Organization Quality of Life: Brief Version. Covariates included age, gender, education, employment, reliance on assistive devices, medication history, social support, and disease economic burden. Data were analyzed using linear regression in R. Results For adult patients with LOPD, the average scores and standard deviations (SD) of the four dimensions of QOL were physical health = 33.77 (SD = 18.28), psychological health = 43.81 (SD = 21.70), environmental health = 39.43 (SD = 16.93), and social relationship = 46.20 (SD = 19.76); the scoring for each dimension was evaluated on a scale of 0 to 100. At the significance level of p < 0.05, with increasing age, the patients experienced a significant decrease in physical health QOL (β = − 0.75) and environmental health QOL (β = − 0.79). Those who relied heavily on assistive devices had lower perceived physical health (β = − 17.8), psychological health (β = − 22.76), environmental health (β = − 17.8), and social relationships (β = − 22.12) than those who did not. A one-unit increase in the amount of social support, as a form of social interaction, led to a significant increase in physical health (β = 0.28), psychological health (β = 0.71), environmental health (β = 0.72), and social relationships (β = 0.70). Conclusion Adult Chinese patients with LOPD had a lower physical health and QOL compared to their counterparts with other RDs. Being employed was found to affect the QOL of adult Chinese patients with LOPD in almost all dimensions. Encouraging adult Chinese patients with LOPD to be socially active and help them become more involved in social life might improve their QOL.

scholarly journals Quality of Life and Its Contributors Among Adults With Late-onset Pompe Disease in China

2021 ◽  
Author(s):  
Shanquan Chen ◽  
Jingxuan Wang ◽  
Jianfeng Zhu ◽  
Roger Yat-Nork Chung ◽  
Dong Dong
Keyword(s):  
Quality Of Life ◽  
Social Support ◽  
Physical Health ◽  
Environmental Health ◽  
Social Relationships ◽  
Psychological Health ◽  
Late Onset ◽  
Assistive Devices ◽  
Chinese Patients

Abstract Background: Pompe disease (PD) is a rare inherited disorder caused by the deficiency of acid-ɑ glucosidase, which leads to the impairment of organ and tissue functions and causes disabilities. As the first national survey on patients with late-onset PD (LOPD) in China, this study investigated the quality of life (QOL) of adult patients with LOPD in China and explored its contributors. Methods: Data were derived from a nation-based, cross-sectional, self-response survey on rare diseases in early 2018. Answers from 68 adult Chinese patients with LOPD were used for data analysis. QOL was measured using the World Health Organization Quality of Life: Brief Version (WHOQOL-BREF). Covariates included age, gender, education, employment, reliance on assistive devices, medication history, social support, and disease economic burden. Data were analyzed using linear regression in R.Results: For adult patients with LOPD, the average scores and standard deviations (SD) of the four dimensions of QOL were physical health=33.77 (SD=18.28), psychological health=43.81 (SD=21.70), environmental health=39.43 (SD=16.93), and social relationship=46.20 (SD=19.76); the scoring for each dimension was evaluated on a scale of 0 to 100. At the significance level of p<0.05, with increasing age, the patients experienced a significant decrease in physical health QOL (β=-0.75) and environmental health QOL (β=-0.79). Those who relied heavily on assistive devices had lower perceived physical health (β=-17.8), psychological health (β=-22.76), environmental health (β=-17.8), and social relationships (β=-22.12) than those who did not. A one-unit increase in the amount of social support, as a form of social interaction, led to a significant increase in physical health (β=0.28), psychological health (β=0.71), environmental health (β=0.72), and social relationships (β =0.70).Conclusion: Adult Chinese patients with LOPD had a lower physical health and QOL compared to their counterparts with other rare diseases. Being employed was found to affect the QOL of adult Chinese patients with LOPD in almost all dimensions. Encouraging adult Chinese patients with LOPD to be socially active and help them become more involved in social life might improve their QOL.

Inspiratory Muscle Training in Late-Onset Pompe Disease: The Effects on Pulmonary Function Tests, Quality of Life, and Sleep Quality

Lung ◽  
2016 ◽  
Vol 194 (4) ◽  
pp. 555-561 ◽  
Author(s):  
Goksen Kuran Aslan ◽  
Burcu Ersoz Huseyinsinoglu ◽  
Piraye Oflazer ◽  
Nilgun Gurses ◽  
Esen Kiyan
Keyword(s):  
Quality Of Life ◽  
Sleep Quality ◽  
Pulmonary Function ◽  
Pompe Disease ◽  
Late Onset ◽  
Pulmonary Function Tests ◽  
Inspiratory Muscle ◽  
Inspiratory Muscle Training ◽  
Muscle Training

scholarly journals Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study

2020 ◽  
Author(s):  
Meng Yuan ◽  
Eleni-Rosalina Andrinopoulou ◽  
Michelle E. Kruijshaar ◽  
Aglina Lika ◽  
Laurike Harlaar ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Pompe Disease ◽  
Late Onset ◽  
Daily Life ◽  
Cross Sectional ◽  
Daily Life Activities ◽  
Sf 36 ◽  
Patient Reported ◽  
Physical Outcomes

Abstract Background Pompe disease is a rare, progressive metabolic myopathy. The aim of this study is to investigate the associations of physical outcomes with patient-reported outcome measures (PROMs) in late-onset Pompe disease. Methods We included 121 Dutch adult patients with Pompe disease. Physical outcomes comprised muscle strength (manual muscle testing using Medical Research Council [MRC] grading, hand-held dynamometry [HHD]), walking ability (6-minute walk test [6MWT]), and pulmonary function (forced vital capacity [FVC] in upright and supine positions). PROMs comprised quality of life (Short Form 36 health survey [SF-36]), participation (Rotterdam Handicap Scale [RHS]) and daily-life activities (Rasch-Built Pompe-Specific Activity [R-PAct] Scale). Analyses were cross-sectional: the time-point before, and closest to, start of Enzyme Replacement Therapy was chosen. Associations between PROMs and physical outcomes were investigated using linear regression models. Results RHS and R-PAct scores were better in patients with higher FVC supine and upright, HHD, MRC and 6MWT scores, accounting for the effect of sex, disease duration, use of wheelchair and ventilator support. While the SF-36 Physical Component Summary (PCS) was correlated positively with FVC upright, HHD, MRC and 6MWT scores, there was no significant relationship between the SF-36 Mental Component Summary (MCS) and any of the physical outcomes. Conclusions Participation, daily-life activities, and the physical component of quality of life of adult Pompe patients are positively correlated to physical outcomes. This work serves as a first step towards assessing how changes over time in physical outcomes are related to changes in PROMs, and to define the minimal change in physical outcomes required to make an important difference for the patient.

Relationships Among Quality of Life, Physical Health, and Depressive Outcomes in the Latino Elderly

2009 ◽  
Author(s):  
Roseanne Illes ◽  
Azara L. Santiago-Rivera ◽  
Shannon Chavez-Korell ◽  
William Reyes ◽  
Melissa A. Rico ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Physical Health
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