Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needs

Abstract

Background Spinal muscular atrophy (SMA) is a rare degenerative neuromuscular disease, mostly occurring in infants and children, leading to muscle wasting and weakness, and premature death. Due to new developments of multiple disease-modifying treatments within the last years, the interest of research in patients affected by SMA increased steadily. However, the psychosocial situation of parents as informal caregivers is still rarely addressed. Objectives This review aims to highlight quantitative and qualitative data about the psychosocial situation, caregiver burden, and needs of parents as informal caregivers for children and adolescents with SMA. Methods A systematic literature review was performed including quantitative and qualitative original studies focusing on different psychosocial aspects and outcomes for parents of children and adolescents < 21 years of age with SMA type I–IV (PROSPERO; registration number CRD42020219020). We searched the following databases in November 2020 with a research update in August 2021: MEDLINE, CINAHL, PsycINFO and Web of Science. Results In total, 24 articles from 23 studies were selected for inclusion (15 quantitative studies, 7 articles from 6 qualitative studies, 2 mixed methods studies). The synthesis of included studies shows multiple sources of psychosocial burden for parents of children and adolescents affected by SMA: Most studies found reduced levels of quality of life, moderate to high levels of caregiver burden and distress, as well as physical and mental health symptoms. Further, findings indicate several unmet family needs regarding information, care coordination, treatment decisions, financial support, and adequate supportive care services. Conclusion Parents of children and adolescents with SMA face multiple sources of psychosocial stressors, caregiver burden and various unmet family needs. To unburden families, the needs of parents as caregivers should be included in integrated care paths for SMA to improve their psychosocial situation and thus their ability to care for their children and to treat or prevent physical and mental health problems due to overburdening. Future research should focus not only on quality of life and on caregiving-related burden but should also examine the clinical relevance of reported symptoms to support the implementation of adequate support services for families affected by SMA.

Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1

“…This is the first study in France to examine how parents of children with SMA type 1 experience the decision-making process around innovative therapy for their child. The participants in our study were mainly mothers, which is consistent with participation rates found in the literature ( 24 ). The average age of parents in our study is slightly higher than the average age reported in the only other study providing information on the age of parents of children with type 1 SMA ( 25 ).…”

“…In our study, we did not measure parental responsibility quantitatively as we felt there were no relevant tools to do so. Brand et al point out that studies based on quantitative methodologies report an average to moderate burden ( 24 , 26 – 29 ) in parents of children with SMA. However, these studies used the Zarit scale or the Caregiver Strain index, scales initially developed to assess the burden of caregivers of patients with dementia and/or the elderly and which have not been validated in a population of parents of children with degenerative diseases ( 30 , 31 ).…”

“…Concerns decreased for only 33.3% and 16.7% of parents after starting treatment. Indeed, despite the availability of innovative therapies, which change the course of the disease, a cure is still not possible ( 24 ). Uncertainty regarding the long-term efficacy of treatments raises ethical, medical, and financial questions for families ( 24 ).…”

“…Indeed, despite the availability of innovative therapies, which change the course of the disease, a cure is still not possible ( 24 ). Uncertainty regarding the long-term efficacy of treatments raises ethical, medical, and financial questions for families ( 24 ). Accordingly, parental concerns are reported in the literature regarding the cost of innovative therapies, side effects and complications that therapies could induce ( 32 , 33 ).…”

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

“…Particularly, QoL was relatively poor in children with type I and type II SMA as well as in their caregivers compared to those with SMA type III [ 32 ]. Further, the clinical relevance of reported disturbances of QoL in caregivers should support the implementation of adequate support services for families of symptomatic SMA patients [ 33 ].…”