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

Abstract

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.

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

“…The addition of SMA and SCD to the screening panel in 2021 has resulted in several reports. For SMA, the focus has been on pilot testing data and the logistics of national expansion, the additional challenges of screening and diagnosis for a new screening condition, and the impact on parents [ 800 , 801 , 802 , 803 , 804 ]. For SCD, a brief narrative reviewing the pathway for adding SCD to the screening panel has been published [ 805 ].…”

One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia

“…This led to the rapid development and implementation of SMA NBS programs globally [ 14 ]. The purpose of NBS programs is to achieve a timely presymptomatic diagnosis of treatable disorders, which allows for early initiation of therapy and thus a reduction in morbidity and mortality [ 15 ]. It is estimated that SMA NBS is currently available for about 58% of newborns in geographical Europe or for about 65% of newborns including surrounding countries [ 16 ].…”

“…The psychosocial impact of NBS on families is still uncertain, possibly due to the lack of data on the long-term effects of the treatment and/or a “wait-and-see” strategy in SMA patients with >4 SMN2 copies [ 15 ] which is applied in our country. A study from Germany revealed that families with patients diagnosed through SMA NBS are greatly affected by the burden of the disease in various aspects of their lives, even after timely treatment and improved neurological outcomes [ 15 ]. Parents/caregivers, who come from various backgrounds and possess different levels of education, have to make a decision about the choice of therapy in a very short period of time.…”

“…For this reason, it is of crucial importance to have a multidisciplinary counseling team at their disposal. Strong psychological support is not only important in the first days after the diagnosis but also in the further stages of accepting their child’s chronic illness [ 15 ].…”

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

“…As the care in many healthcare systems is so fragmented, caregivers spend a lot of time coordinating appointments, communicating between providers, clarifying sociolegal issues, and more (10). These demands, and handling the disease's progressive nature influence the entire family's health-related quality of life (HRQoL) (11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21). Effective care coordination is needed that can flexibly adapt to families' changing needs.…”