A systematic review and qualitative synthesis of the experiences of parents of individuals living with Duchenne muscular dystrophy

Donnelly, C.M.; Quinlivan, R.; Herron, Aaron; Graham, Christopher D.

doi:10.1080/09638288.2022.2060336

Cited by 8 publications

(5 citation statements)

References 64 publications

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“…These findings emphasize the importance and efficacy of screening during the newborn period for DMD, which aligns with the criteria for including conditions in the RUSP. A few negative effects of early diagnosis, such as impacts on the parents’ ability to bond, the emotional burden associated with additional diagnosis, lost time, and the emotional and physical impacts that come with treatment side effects, also aligned with the past literature [ 39 , 40 , 41 , 42 , 43 ]. Post hoc analyses revealed significant variations in parental experiences related to early diagnosis based on key cohort differences.…”

Section: Discussionmentioning

confidence: 64%

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Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy

Bhattacharyya,

Campoamor,

Armstrong

et al. 2024

IJNS

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Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder diagnosed in childhood. Limited newborn screening in the US often delays diagnosis. With multiple FDA-approved therapies, early diagnosis is crucial for timely treatment but may entail other benefits and harms. Using a community-based survey, we explored how parents of siblings with DMD perceived early diagnosis of one child due to a prior child’s diagnosis. We assessed parents’ viewpoints across domains including diagnostic journey, treatment initiatives, service access, preparedness, parenting, emotional impact, and caregiving experience. We analyzed closed-ended responses on a −1.0 to +1.0 scale to measure the degree of harm or benefit parents perceived and analyzed open-ended responses thematically. A total of 45 parents completed the survey, with an average age of 43.5 years and 20.0% identifying as non-white. Younger siblings were diagnosed 2 years earlier on average (p < 0.001). Overall, parents viewed early diagnosis positively (mean: 0.39), particularly regarding school preparedness (+0.79), support services (+0.78), treatment evaluation (+0.68), and avoiding diagnostic odyssey (+0.67). Increased worry was a common downside (−0.40). Open-ended responses highlighted improved outlook and health management alongside heightened emotional distress and treatment burdens. These findings address gaps in the evidence by documenting the effectiveness of early screening and diagnosis of DMD using sibling data.

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Section: Discussionmentioning

confidence: 64%

“…While most parents viewed the aspect of earlier initiation of treatments as beneficial (+0. 43), some worried about potential side effects (±0.17, −0.05). Parents also had varying experiences regarding the impact of early diagnosis on their ability to bond with their child (+0.26, ±0.02, −0.02).…”

Section: Parents' Lived Experience Of Early Diagnosismentioning

confidence: 99%

Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy

Bhattacharyya,

Campoamor,

Armstrong

et al. 2024

IJNS

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“…This anxiety remains a constant presence in their lives, a reminder of the formidable challenges they confront. Previous studies (Donnelly et al, 2023;Kenneson & Bobo, 2010;Landfeldt et al, 2016Landfeldt et al, , 2018Magliano et al, 2014;Pangalila et al, 2012;Tesei et al, 2020) corroborate this, highlighting elevated levels of stress, distress, anxiety, lower quality of life, sadness, and depression among caregivers of patients with DMD.…”

Section: Negative Emotions Alongside Positive Perceptionsmentioning

confidence: 70%

Young Adults and Parents’ Coping With Duchenne/Becker Muscular Dystrophy: A Focus Group Study

Makhoul Khoury,

Rosenne,

Mischel

et al. 2024

Emerging Adulthood

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Duchenne and Becker muscular dystrophy (DBMD) are genetic disorders that are characterized by progressive muscle weakness. As such, individuals with DBMD may need constant assistance with medical and physical care, which is oftenE provided by their family members. An essential part of patients’ medical management and their parents’ care is to develop appropriate coping strategies. This study focuses on young adults in the developmental period of emerging adulthood and parents, aiming to obtain an in-depth understanding of their coping strategies with DBMD. Qualitative methodology was employed and implemented within three focus groups: one group of young adults (ages 18–23) and two groups of parents. The findings of themes related to young adults and parents coping with DBMD included negative emotions alongside positive perceptions, hope, coping with loneliness in the context of being different, and familial adjustments. Our findings revealed similarities and differences in relation to both young adults’ and parents’ coping strategies, referred to in this study as “adjustments”. It may be advantageous to have an interdisciplinary professional team (i.e., physicians, nurses, and psychologists/social workers) intervene with young adults and parents to get a comprehensive understanding of the impact DBMD has on the multidimensional aspects of their daily functioning and the “adjustments” they employ to cope with DBMD.

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“…Findings also illustrated the importance of the family as a support system for boys and young men with DMD. Previous research shows that family caregivers also rely on extensive networks for emotional, social and practical support, including information to navigate healthcare systems and financial support to pay for equipment and an array of healthcare costs related to DMD [ 50 ]. In addition to helping families meet their sons’ physical and emotional care needs, access to systems of support may provide protection against poor HRQoL outcomes that have been documented among caregivers in DMD [ 51 , 52 ].…”

Section: Discussionmentioning

confidence: 99%

“You Take This Day by Day, Come What May”: A Qualitative Study of the Psychosocial Impacts of Living with Duchenne Muscular Dystrophy

Bever,

Audhya,

Szabo

et al. 2024

Adv Ther

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Introduction Studies have reported health-related quality-of-life impacts of Duchenne muscular dystrophy (DMD); however, further research is needed to understand how those with DMD experience their condition and how psychosocial impacts evolve over time in response to disease progression. This qualitative study explores the social and emotional implications of key transitions, challenges and adaptations throughout the disease course from the perspective of patients and family caregivers. Methods Semi-structured interviews were conducted with men and boys with DMD, and/or their caregivers, in the USA. Thematic analysis was used to examine patterns in data collected across the interviews. Results Nineteen participants were included. Three major themes were identified: (1) barriers to participation are multifaceted; (2) an emotional journey shaped by ‘inevitable progression;' (3) family provides critical tangible and emotional support. This study illustrates that psychosocial impacts of DMD are shaped by knowledge of the condition’s natural history alongside other factors including the extent of social barriers, personal growth and adaptation, and family support. Conclusions Findings provide insight into the strength and resilience with which individuals and their families respond to daily challenges and major clinical milestones and highlight the relative importance of loss of upper limb function as a transition in DMD affecting health-related quality-of-life. Supplementary Information The online version contains supplementary material available at 10.1007/s12325-024-02867-0.

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A systematic review and qualitative synthesis of the experiences of parents of individuals living with Duchenne muscular dystrophy

Cited by 8 publications

References 64 publications

Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy

Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy

Young Adults and Parents’ Coping With Duchenne/Becker Muscular Dystrophy: A Focus Group Study

“You Take This Day by Day, Come What May”: A Qualitative Study of the Psychosocial Impacts of Living with Duchenne Muscular Dystrophy

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