A qualitative study on the impact of caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy

Abstract Background Duchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory individuals aged two years and older. This study explored the impact of caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy, as well as the impact of treatment with ataluren on the caregiver experience, using retrospective recall. Methods Qualitative interviews were conducted with caregivers in the UK. Interviews were conducted by telephone, were recorded and transcribed. Data were analysed using thematic analysis and saturation was recorded. Results Ten interviews were conducted with parents of individuals aged 4–19 years. Caregivers reported proximal impacts (physical, emotional, time-related), and distal impacts (work, relationships, social life) of caring for their sons. The relationships between these impacts were illustrated in a conceptual model. Changes to the caregiver experience since initiation with their son’s treatment were discussed. Conclusion Caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy has a substantial multifaceted impact on caregivers. Treatments which have the potential to improve symptoms or delay progression, may also have a positive impact on the quality of life of caregivers.

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“You’re just there, alone in your room with your thoughts” A qualitative study about the impact of lockdown among young people during the COVID-19 pandemic

10.1101/2021.04.11.21254776 ◽

2021 ◽

Author(s):

Alison R. McKinlay ◽

Tom May ◽

Joanna Dawes ◽

Daisy Fancourt ◽

Alexandra Burton

Keyword(s):

Mental Health ◽

Young Adults ◽

Young People ◽

Social Life ◽

Qualitative Interviews ◽

Social Contact ◽

Adolescents And Young Adults ◽

Quantitative Evidence ◽

The Uk ◽

The Impact

AbstractBackgroundAdolescents and young adults have been greatly affected by quarantine measures during the coronavirus-19 pandemic. Quantitative evidence suggests that many young people have struggled with their mental health throughout “lockdown”, but little is understood about the qualitative impact of social distancing restrictions on mental health, wellbeing and social life. We therefore sought to elicit the views and experiences of adolescents and young adults living in the UK during the pandemic.MethodsSemi-structured qualitative interviews were undertaken with 37 participants aged 13-24.ResultsWe identified 4 superordinate themes most commonly described by participants about their experiences during the pandemic, including: a) missing social contact during lockdown, b) disruption to education, c) changes to social relationships, and d) improved wellbeing during lockdown. Although we identified some positive experiences during the pandemic, including an increased awareness of mental health and stronger relationship ties, many said they struggled with loneliness, a decline in mental health, and anxiety about socialising after the pandemic.ConclusionsFindings suggest that some young people may have felt less stigma talking about their mental health now compared to before the COVID-19 pandemic. However, many are worried about how the pandemic has affected their education and social connections and may require additional psychological, practical and social support. Our findings highlight the important role that education providers play in providing a source of information and support to adolescents and young adults during times of uncertainty.

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Regional Variations In Appraisal And Uptake Of New Treatments For Ultra Rare Diseases In The UK: A Case Study Of Ataluren For Nonsense Mutation Duchenne Muscular Dystrophy (NMDMD)

Value in Health ◽

10.1016/j.jval.2017.08.931 ◽

2017 ◽

Vol 20 (9) ◽

pp. A562-A563

Author(s):

JD Marshall ◽

J Clayton

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Rare Diseases ◽

Nonsense Mutation ◽

Regional Variations ◽

The Uk ◽

New Treatments

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PRO117 The Development of a Conceptual MODEL on the IMPACT of Caring for an Individual with Nonsense Mutation Duchenne Muscular Dystrophy

Value in Health ◽

10.1016/j.jval.2020.08.1853 ◽

2020 ◽

Vol 23 ◽

pp. S710-S711

Author(s):

K. Williams ◽

K. Buesch ◽

N. Piglowska ◽

I. Davidson ◽

M. Rance ◽

...

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Conceptual Model ◽

Nonsense Mutation ◽

The Impact

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Ataluren: Clinical Trial Results in Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)

Neuropediatrics ◽

10.1055/s-0036-1583648 ◽

2016 ◽

Vol 47 (S 01) ◽

Author(s):

U. Schara ◽

C. McDonald ◽

K. Bushby ◽

M. Tulinius ◽

R. Finkel ◽

...

Keyword(s):

Clinical Trial ◽

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Nonsense Mutation ◽

Clinical Trial Results

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Ataluren in Patients Aged  2 to < 5 Years with Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD): 28-week Results from a Phase 2 Study

10.1055/s-0039-1698256 ◽

2019 ◽

Author(s):

Christian Werner ◽

Cuixia Tian ◽

Robert Kong ◽

Edward O’Mara ◽

Traci Schilling ◽

...

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Nonsense Mutation ◽

Phase 2 ◽

Phase 2 Study

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Experiences and impact of international medical volunteering: a multi-country mixed methods study

BMJ Open ◽

10.1136/bmjopen-2020-041599 ◽

2021 ◽

Vol 11 (3) ◽

pp. e041599 ◽

Cited By ~ 1

Author(s):

Mary McCauley ◽

Joanna Raven ◽

Nynke van den Broek

Keyword(s):

Low Income ◽

Online Survey ◽

Positive Impact ◽

Healthcare Providers ◽

International Medical ◽

Middle Income ◽

Use Of Resources ◽

The Uk ◽

Medical Volunteers ◽

The Impact

ObjectiveTo assess the experience and impact of medical volunteers who facilitated training workshops for healthcare providers in maternal and newborn emergency care in 13 countries.SettingsBangladesh, Ghana, India, Kenya, Malawi, Namibia, Nigeria, Pakistan, Sierra Leone, South Africa, Tanzania, UK and Zimbabwe.ParticipantsMedical volunteers from the UK (n=162) and from low-income and middle-income countries (LMIC) (n=138).Outcome measuresExpectations, experience, views, personal and professional impact of the experience of volunteering on medical volunteers based in the UK and in LMIC.ResultsUK-based medical volunteers (n=38) were interviewed using focus group discussions (n=12) and key informant interviews (n=26). 262 volunteers (UK-based n=124 (47.3%), and LMIC-based n=138 (52.7%)) responded to the online survey (62% response rate), covering 506 volunteering episodes. UK-based medical volunteers were motivated by altruism, and perceived volunteering as a valuable opportunity to develop their skills in leadership, teaching and communication, skills reported to be transferable to their home workplace. Medical volunteers based in the UK and in LMIC (n=244) reported increased confidence (98%, n=239); improved teamwork (95%, n=232); strengthened leadership skills (90%, n=220); and reported that volunteering had a positive impact for the host country (96%, n=234) and healthcare providers trained (99%, n=241); formed sustainable partnerships (97%, n=237); promoted multidisciplinary team working (98%, n=239); and was a good use of resources (98%, n=239). Medical volunteers based in LMIC reported higher satisfaction scores than those from the UK with regards to impact on personal and professional development.ConclusionHealthcare providers from the UK and LMIC are highly motivated to volunteer to increase local healthcare providers’ knowledge and skills in low-resource settings. Further research is necessary to understand the experiences of local partners and communities regarding how the impact of international medical volunteering can be mutually beneficial and sustainable with measurable outcomes.

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Beyond the Pandemic: COVID-19 Pandemic Changed the Face of Life

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph18115645 ◽

2021 ◽

Vol 18 (11) ◽

pp. 5645

Author(s):

Shaden A. M. Khalifa ◽

Mahmoud M. Swilam ◽

Aida A. Abd El-Wahed ◽

Ming Du ◽

Haged H. R. El-Seedi ◽

...

Keyword(s):

Human Activities ◽

Social Life ◽

Positive Impact ◽

Mental Wellbeing ◽

Negative Effects ◽

Population Movements ◽

Social Distancing ◽

The Face ◽

The Impact ◽

Positive Impacts

The COVID-19 pandemic is a serious challenge for societies around the globe as entire populations have fallen victim to the infectious spread and have taken up social distancing. In many countries, people have had to self-isolate and to be confined to their homes for several weeks to months to prevent the spread of the virus. Social distancing measures have had both negative and positive impacts on various aspects of economies, lifestyles, education, transportation, food supply, health, social life, and mental wellbeing. On other hands, due to reduced population movements and the decline in human activities, gas emissions decreased and the ozone layer improved; this had a positive impact on Earth’s weather and environment. Overall, the COVID-19 pandemic has negative effects on human activities and positive impacts on nature. This study discusses the impact of the COVID-19 pandemic on different life aspects including the economy, social life, health, education, and the environment.

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European Youth Work Policy and Young People’s Experience of Open Access Youth Work

Journal of Social Policy ◽

10.1017/s0047279421000143 ◽

2021 ◽

pp. 1-21

Author(s):

JON ORD ◽

MARC CARLETTI ◽

DANIELE MORCIANO ◽

LASSE SIURALA ◽

CHRISTOPHE DANSAC ◽

...

Keyword(s):

Open Access ◽

Young People ◽

Positive Impact ◽

Policy Formulation ◽

Youth Work ◽

Policy Makers ◽

Policy Goals ◽

The Uk ◽

The Impact ◽

European Youth

Abstract This article examines young people’s experiences of open access youth work in settings in the UK, Finland, Estonia, Italy and France. It analyses 844 individual narratives from young people, which communicate the impact of youthwork on their lives. These accounts are then analysed in the light of the European youth work policy goals. It concludes that it is encouraging that what young people identify as the positive impact of youth work are broadly consistent with many of these goals. There are however some disparities which require attention. These include the importance young people place on the social context of youth work, such as friendship, which is largely absent in EU youth work policy; as well as the importance placed on experiential learning. The paper also highlights a tension between ‘top down’ policy formulation and the ‘youth centric’ practices of youth work. It concludes with a reminder to policy makers that for youth work to remain successful the spaces and places for young people must remain meaningful to them ‘on their terms’.

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