Diseases Costs and Impact of the Caring Role on Informal Carers of Children with Neuromuscular Disease

Rodríguez, Alicia Aurora; Martínez, Óscar; Amayra, Imanol; López-Paz, Juan Francisco; Al-Rashaida, Mohammad; Lázaro, Esther; Caballero, Patricia; Pérez, Manuel; Berrocoso, Sarah; García, Maitane; Luna, Paula María; Pérez-Núñez, Paula; Passi, Nicole

doi:10.3390/ijerph18062991

Cited by 13 publications

(5 citation statements)

References 76 publications

(96 reference statements)

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“…FFE was defined as any family member who stopped working and/or reduced their hours because of the child’s health or medical condition. This is the primary factor in financial toxicity and a burden for families with chronically ill children [ 37 ].…”

Section: Discussionmentioning

confidence: 99%

Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening

et al. 2022

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The aim of this study was to assess the psychosocial burden in parents of children with spinal muscular atrophy (SMA), detected by newborn screening (NBS), for which first pilot projects started in January 2018 in Germany. The survey, performed 1–2 years after children’s diagnosis of SMA via NBS, included 3 parent-related questionnaires to evaluate the psychosocial burden, quality of life (QoL)/satisfaction and work productivity and activity impairment in the families. 42/44 families, detected between January 2018 and February 2020, could be investigated. Interestingly, statistical analysis revealed a significant difference between families with children that received SMN-targeted therapy vs. children with a wait-and-see strategy as to social burden (p = 0.016) and personal strain/worries about the future (p = 0.02). However, the evaluation of QoL showed no significant differences between treated vs. untreated children. Fathers of treated children felt more negative impact regarding their productivities at work (p = 0.005) and more negative effects on daily activities (p = 0.022) than fathers of untreated children. Thus, NBS in SMA has a psychosocial impact on families, not only in terms of diagnosis but especially in terms of treatment, and triggers concerns about the future, emphasizing the need for comprehensive multidisciplinary care. Understanding the parents’ perspective allows genetic counselors and NBS programs to proactively develop a care plan for parents during the challenging time of uncertainty, anxiety, frustration, and fear of the unknown.

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Section: Discussionmentioning

confidence: 99%

Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening

et al. 2022

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“…FFE was de ned as any family member having stopped work and/or reduced working hours because of their child's health or health condition. It is the main factor for nancial toxicity and the burden for families with chronically sick children (24).…”

Section: Discussionmentioning

confidence: 99%

Newborn Screening for SMA – Burden and Quality of Life of Parents One Year on

Kölbel

Vill²,

Modler

et al. 2022

Preprint

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Background: The NBS projects started in February 2018 in Germany. The aim of our study was to assess the psychosocial burden in parents of children with spinal muscular atrophy (SMA) detected by newborn screening (NBS). Follow-up a year on after diagnosis included 3 parent-related questionnaires to evaluate the psychosocial burden, quality of life (QoL)/satisfaction and work productivity and activity impairment of families with a positive result after NBS.Results: 42/44 families were included. Statistical analysis revealed a significant difference between families with treated vs. untreated children as to social burden (p=0.016) and personal strain/worries about the future (p=0.02), whereas the evaluation of the QoL showed no significant differences between treated vs. untreated children. Fathers of treated children felt more negative effects regarding their productivities at work (p=0.005) and more negative effects on daily activities (p=0.022) in the last seven days than fathers of untreated children. Conclusion: NBS for SMA has a psychosocial impact on families due to medical treatment and triggers worries about the future, emphasizing the need for comprehensive multidisciplinary care.

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“…Having a family member with a rare disease was found to negatively impact work or occupation of participants in all nine studies. Due to their family member's rare disease, participants across a number of studies reported giving up their employment or reduced or adjusted their work hours (Berrocoso et al, 2020;De Stefano et al, 2020;Lagae et al, 2019;Pelentsov et al, 2016b;Rodríguez et al, 2021;Save et al, 2013); missing or taking time off work (Duncan et al, 2020;Lagae et al, 2019); and changing their employment activity or choice of career (Lagae et al, 2019;Save et al, 2013). Save et al (2013) found that mothers more frequently modified their professional lives than fathers, and Stewart et al (2018) reported that the impact of having a family member with a rare disease, varied between countries.…”

Section: Work and Occupational Impactsmentioning

confidence: 99%

Living with a Rare Disease: Psychosocial Impacts for Parents and Family Members – a Systematic Review

Atkins,

Padgett

2024

J Child Fam Stud

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As rare diseases often have an onset of symptoms in childhood, the burden of the disease and associated challenges commonly fall to the individual’s family members. Managing this burden, and navigating these challenges, has been found to affect the health and lifestyle of family members and lead to them experiencing negative psychosocial impacts and lower quality of life. The aim of the current study was to consolidate and summarise the published quantitative evidence on the psychosocial impacts experienced by individuals who have a family member with a rare disease. We performed a systematic literature search including quantitative studies on psychosocial impacts experienced by family members of individuals with a rare disease across three databases (PubMed, PsychINFO, and CINAHL) from inception to November 2021. Of the 2024 titles identified, 30 studies met the inclusion criteria and were included in the review. A narrative analysis revealed that family members of individuals with rare disease experience a wide range of psychosocial impacts, some of which appear to be unique to, or amplified by, the rarity of the disease. Whilst there are occasional positive outcomes of having a family member with a rare disease, overall family members have been found to experience increased psychological distress, lower quality of life, higher caregiver burden and changes to their social support. Clinical and practical implications of these findings are discussed, as well as implications and directions for future research.

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Diseases Costs and Impact of the Caring Role on Informal Carers of Children with Neuromuscular Disease

Cited by 13 publications

References 76 publications

Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening

Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening

Newborn Screening for SMA – Burden and Quality of Life of Parents One Year on

Living with a Rare Disease: Psychosocial Impacts for Parents and Family Members – a Systematic Review

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