Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy

Inhestern, Laura; Brandt, Maja; Driemeyer, Joenna; Denecke, Jonas; Johannsen, Jessika; Bergelt, Corinna

doi:10.3390/ijerph20075360

Cited by 3 publications

(1 citation statement)

References 31 publications

(38 reference statements)

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“…The varying severity of SMA has significant impacts on patients and their families, leading to financial strain, psychological challenges, sleep disturbances, and social limitations ( 17 , 18 ). Comprehensive support mechanisms are needed, including psychological counseling, legal advice, genetic counseling, and family planning.…”

Section: Introductionmentioning

confidence: 99%

The socioeconomic burden of spinal muscular atrophy in Saudi Arabia: a cross-sectional pilot study

Alotaibi,

Alsuhaibani,

Al-Essa

et al. 2024

Front. Public Health

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BackgroundSpinal muscular atrophy (SMA) is a rare debilitating condition with a significant burden for patients and society. However, little is known about how it affects Saudi Arabia's population. The socioeconomic and medical characteristics of affected SMA patients and their caregivers are lacking.PurposeThis study aimed to describe the socioeconomic and medical characteristics of SMA patients and caregivers in Saudi Arabia.Patients and methodsA cross-sectional questionnaire-based study was conducted using snowball sampling. Assessment tools including EuroQol (EQ-5D-5L) and visual analog scale (EQ-VAS), Generalized Anxiety Disorder 7-item (GAD-7), Patient Health Questionnaire (PHQ-9), and Costs for Patients Questionnaire (CoPaQ) were used to assess the quality of life (QoL), anxiety, depression, and out-of-pocket expenditures.ResultsSixty-four caregivers of SMA patients participated. Type I patients had higher sibling concordance, ICU hospitalization, and mechanical support needs. Type III patients had better QoL. Type I patients' caregivers had higher depression scores. Type III patients' caregivers had higher out-of-pocket expenditures. Forty-eight percent received supportive care, while others received SMA approved therapies.ConclusionSMA imposes a significant socioeconomic burden on patients and caregivers, requiring more attention from the healthcare system. Access to innovative therapies varied across SMA types. Pre-marital screening and early detection are crucial to reduce disease incidence and ensure timely treatment.

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Section: Introductionmentioning

confidence: 99%

The socioeconomic burden of spinal muscular atrophy in Saudi Arabia: a cross-sectional pilot study

Alotaibi,

Alsuhaibani,

Al-Essa

et al. 2024

Front. Public Health

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Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy

Bagga,

Singh,

Ram

et al. 2024

Front. Neurol.

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Spinal muscular atrophy (SMA) is an uncommon disorder associated with genes characterized by the gradual weakening and deterioration of muscles, often leading to substantial disability and premature mortality. Over the past decade, remarkable strides have been made in the field of SMA therapeutics, revolutionizing the landscape of patient care. One pivotal advancement is the development of gene-targeted therapies, such as nusinersen, onasemnogene abeparvovec and risdiplam which have demonstrated unprecedented efficacy in slowing disease progression. These therapies aim to address the root cause of SMA by targeting the survival motor neuron (SMN) gene, effectively restoring deficient SMN protein levels. The advent of these innovative approaches has transformed the prognosis for many SMA patients, offering a glimmer of hope where there was once limited therapeutic recourse. Furthermore, the emergence of small molecule compounds and RNA-targeting strategies has expanded the therapeutic arsenal against SMA. These novel interventions exhibit diverse mechanisms of action, including SMN protein stabilization and modulation of RNA splicing, showcasing the multifaceted nature of SMA treatment research. Collective efforts of pharmaceutical industries, research centers, and patient advocacy groups have played an important role in expediting the translation of scientific discoveries into visible clinical benefits. This review not only highlights the remarkable progress achieved in SMA therapeutics but also generates the ray of hope for the ongoing efforts required to enhance accessibility, optimize treatment strategies, rehabilitation (care and therapies) and ultimately pave the way for an improved quality of life for individuals affected by SMA.

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Evaluating case management for caregivers of children with spinal muscular atrophy type I and II—an exploratory, controlled, mixed-methods trial

Willems,

Pechmann,

Wider

et al. 2023

Front. Pediatr.

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IntroductionSpinal muscular atrophy (SMA) is a rare neuromuscular disease requiring various clinical specialists and therapists to provide care. Due to the disease's dynamic nature and the long distances between specialized centers and local providers, integrating care between disciplines can be challenging. Care that is inadequately integrated can compromise the quality of care and become a burden for patients and families. This trial aimed to improve the care of patients through a case management (CM) intervention.MethodsWe conducted an exploratory, controlled, two-arm trial with pre-, post-, and follow-up measures (process and outcome evaluation). Proof of efficacy based on statistical significance was not our primary study objective since we were investigating a rare disease. Primary outcomes were caregivers' HRQoL and caregiver-rated quality of care integration. Our secondary outcome was the children's HRQoL.ResultsQuestionnaires and semi-structured interviews yielded heterogeneous results depending on caregivers' level of experience and desire (or possibility) to delegate care tasks.DiscussionDespite differing perceptions, all participants supported the establishment of a care coordination model. We recommend CM immediately after diagnosis to provide the greatest benefit to families. We hope that our trial will support the further development of CM interventions that can be customized for specific diseases.

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Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy

Cited by 3 publications

References 31 publications

The socioeconomic burden of spinal muscular atrophy in Saudi Arabia: a cross-sectional pilot study

The socioeconomic burden of spinal muscular atrophy in Saudi Arabia: a cross-sectional pilot study

Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy

Evaluating case management for caregivers of children with spinal muscular atrophy type I and II—an exploratory, controlled, mixed-methods trial

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