QOL in caregivers of Japanese patients with Prader–Willi syndrome with reference to age and genotype

Ihara, Hiroshi; Ogata, Hiroyuki; Sayama, Masayuki; Kato, Aya; Gito, Masao; Murakami, Nobuyuki; Kido, Yasutoshi; Nagai, Toshiro

doi:10.1002/ajmg.a.36634

Cited by 14 publications

(11 citation statements)

References 24 publications

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“…In the same line, a recent study showed that the total quality of life of caregivers of adolescents with a deletion was higher than in caregivers of adolescents with an mUPD [38]. The fact that psychiatric problems, like psychosis and autism spectrum disorder, are more common in children and adolescents with an mUPD than in those with a deletion could contribute to these findings [39,40].…”

Section: Discussionmentioning

confidence: 99%

Beneficial Effect of Growth Hormone Treatment on Health-Related Quality of Life in Children with Prader-Willi Syndrome: A Randomized Controlled Trial and Longitudinal Study

Bakker

Siemensma²,

Rijn³

et al. 2015

Horm Res Paediatr

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Background/Aims: Growth hormone (GH) treatment is beneficial for children with Prader-Willi syndrome (PWS), but data about health-related quality of life (HRQOL) and effects of GH treatment are scarce. We, therefore, investigated the effects of GH treatment on HRQOL in PWS children. Methods: In a randomized controlled GH trial including 26 PWS children and during an 11-year longitudinal GH study in 76 children, we annually assessed HRQOL recorded by patients and parents, using a generic questionnaire (DUX25), containing 4 subdomains (Physical, Home, Social, and Emotional) and a PWS-specific questionnaire (DUXPW). Results: At baseline, PWS children rated HRQOL similar to or higher than healthy and obese children. GH-treated children reported an increase in HRQOL in the Physical and Social subdomains and the DUXPW compared to untreated children. Parents reported an increase in the Physical and Emotional subdomains and borderline in the total DUX25 compared to parents of untreated children. During the 11 years of GH treatment, the Physical subdomain continued to improve, according to parents, whereas the Home, Social and Emotional subdomains, the total DUX25, and the DUXPW remained similar, according to children and parents. Conclusions: PWS children rated HRQOL equally to or better than healthy and obese children. HRQOL increased during GH treatment, in contrast to HRQOL of untreated children. This effect was sustained during long-term GH treatment. PWS children consider themselves quite happy, despite some difficulties related to the syndrome.

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Section: Discussionmentioning

confidence: 99%

Beneficial Effect of Growth Hormone Treatment on Health-Related Quality of Life in Children with Prader-Willi Syndrome: A Randomized Controlled Trial and Longitudinal Study

Bakker

Siemensma²,

Rijn³

et al. 2015

Horm Res Paediatr

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“…There was only one study concerned with the QOL of caregivers, which might deteriorate during the late adolescence of patients with a mUPD genotype. However, the reason for this finding remains unclear ( Ihara et al, 2014 ).…”

Section: Introductionmentioning

confidence: 99%

Motor performance in Prader-Willi syndrome patients and its potential influence on caregiver’s quality of life

Chiu

Tsai

Wei

et al. 2017

PeerJ

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BackgroundPrader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by a variety of physical, cognitive, and behavioral impairments. PWS is a unique sarcopenia model characterized by an abnormal increase in body fat mass and a decrease in muscle mass that predisposes patients to reduced physical activity, functional limitations, and disability. These manifestations may require both symptomatic and supportive management, thus negatively influencing their lifelong family caregiver’s quality of life. The aim of this study was to examine the functional motor performance of adults with PWS in Taiwan and to measure the quality of life of their primary family caregivers.MethodsThe functional motor tests consisted of the following: (1) 30-s sit-to-stand test, (2) timed up-and-go test, (3) hand grip and lateral pinch strength tests, and (4) Berg Balance Scale. The World Health Organization Quality of Life-short form (WHOQOL-BREF) and the Short-Form 36 Health Survey Questionnaire (SF-36) were used to evaluate health-related quality of life, and the parenting stress index was used to assess the magnitude of stress within the parent-child system.ResultsThe participants included seven adults (two females and five males) with genetically confirmed PWS and their respective main caregivers. The mean age of the adults with PWS was 25.28 years; range 18–31 years, SD 5.10; the mean BMI was 29.2 kg/m2, SD 6.43. All adults with PWS showed lower hand grip and lateral pinch strengths, fewer sit-to-stand cycles during the 30-s chair stand test, and greater average time during the timed up-and-go test when compared to the normative data on healthy adults. Balance was negatively correlated with the caregiver’s health concepts of social functioning (rs −0.879, P = 0.009) and with role limitations due to physical problems (rs −0.899, P = 0.006) and emotional problems (rs −0.794, P = 0.033); hand grip strength was negatively correlated with bodily pain (rs −0.800, P = 0.031), as assessed using the SF-36 questionnaire. The timed up-and-go test was positively correlated with the social relationship domain (rs 0.831, P = 0.021), as assessed using the WHOQOL-BREF questionnaire. The parenting stress index showed no association with the PWS patient’s physical activities.ConclusionsAll adults with PWS showed decreased upper and lower limb strength and functional mobility when compared to healthy adults. Some of their motor performance might have negative effects on their primary family members in terms of social participation and physical and emotional role limitations. Future research should explore the relationship between physical performances, psychological difficulties of PWS and caregiver’s QOL.

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“…However, there had previously been no appropriate condition-specific metrics for caregivers in Japan working with CP children. As an alternative it has been possible to use the Japanese version of the somewhat generalized World Health Organization QOL-BREF (WHOQOL-BREF)12 ) , which is aimed at assessing the QOL of primary family caregivers for patients with intractable and rare diseases13 ) . To the best knowledge of the authors, our study is the first attempt to translate the world-wide psychometric battery for testing the QOL of primary caregivers of CP children into Japanese.…”

Section: Discussionmentioning

confidence: 99%

Development and exploration of a Japanese version of the cerebral palsy quality of life for children questionnaire for primary caregivers: a pilot study

Mutoh

Kurosaki

et al. 2019

J Phys Ther Sci

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We aimed to translate and validate a Japanese language version of the cerebral palsy quality of life for children questionnaire for primary caregivers and assess the relationship between quality of life of Japanese parents and their children's motor skills. [Participants and Methods] Fifty children (aged 4 to 12 years) and their parents (mothers) were enrolled. The parent-proxy version of the cerebral palsy quality of life for children questionnaire translated to Japanese was administered, and a validation study was performed using Cronbach's α as the key metric. The relationships between the parents' quality of life and children's Gross Motor Function Classification Scale levels were analyzed. [Results] We found that the age of the children and their parents and gender of the children were not significant factors affecting the quality of life domains. Significantly high values of internal consistency were detected among items within each quality of life domain, wherein Cronbach's α was between 0.72 and 0.89. Two quality of life domains (Emotional well-being and Feeling about functioning) were significantly associated with Gross Motor Function Classification Scale levels. [Conclusion] Our data suggest that the original English version of the cerebral palsy quality of life for children questionnaire for primary caregivers was successfully translated to Japanese for use by Japanese-speaking parents caring for their children.

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QOL in caregivers of Japanese patients with Prader–Willi syndrome with reference to age and genotype

Cited by 14 publications

References 24 publications

Beneficial Effect of Growth Hormone Treatment on Health-Related Quality of Life in Children with Prader-Willi Syndrome: A Randomized Controlled Trial and Longitudinal Study

Beneficial Effect of Growth Hormone Treatment on Health-Related Quality of Life in Children with Prader-Willi Syndrome: A Randomized Controlled Trial and Longitudinal Study

Motor performance in Prader-Willi syndrome patients and its potential influence on caregiver’s quality of life

Development and exploration of a Japanese version of the cerebral palsy quality of life for children questionnaire for primary caregivers: a pilot study

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