We present data of the psychosocial burden and quality of life in a large cohort of families with SMA patients detected by a newborn screening project for SMA in Germany. Despite the undisputed clinical benefits of SMA-NBS on motor development (Table 1), several challenges have been noted, one of which being the potential psychological impact on the child’s family. Our study is the first one to investigate the psychosocial impact of early diagnosis via genetic NBS for SMA.
In summary, a cohort of 42 families answered three questionnaires one year on after diagnosis of SMA and provided data on the long-term impact on parents’ health and well-being. The most important findings in our cohort were the high scores in “personal strain/worries about the future” in all families. Interestingly, they were significantly higher in the group of parents whose children were treated as compared to those with a watchful waiting strategy. We may assume, that the start of treatment will change the parents’ perception toward being threatened by a disease, whereas the waiting strategy keeps the hope alive that laboratory findings do not necessarily mean disease. Similar results were found in newborn screening in metabolic disorders. On the one hand, early diagnosis and treatment will lead to favorable physical and cognitive outcome, on the other hand, dietary treatment and diagnoses bearing risk for metabolic decompensation despite treatment are associated with a higher perceived burden for the family (19).
Rodriges et al. reported that Nusinersen treatment did not impact proxy-reported QoL in children with SMA, whereas gastrostomy tube and ventilation support decreased children’s QoL (20). In our cohort only a few children were severely affected. We assume that one of the reasons for the worries about the future may be the unknown long-term treatment effects and side effects of the new medications for the child. In addition, these worries lead to the desire to change the treatment to Onasemnogene Abeparvovec as a seemingly final fix of the problem even if the child responds very well to an RNA-based treatment.
Another high score received the item “social burden” (p = 0.016) which included negative effects by the peer-group, loss of work and the lack of participation in social life (e. g. visits of restaurants, holidays, family celebrations). We might further speculate that patients identified by NBS were still perceived by their parents as chronically sick children despite an almost normal motor development under treatment.
In a review on the QoL in SMA patients, the authors concluded that the analysis of parents’ questionnaires revealed that different types of SMA and clinical treatment can significantly affect the QoL of SMA patients (21). The more severe the SMA disorder was, the lower were the average scores on the PedsQL NMM (Neuromuscular Module) and PedsQL FIM (Family Impact Module) as reported by the patients’ caregivers, and the poorer was the patients’ QoL (21). In a large Chinese cohort could be shown that disease-related clinical features and clinical treatments have a significant influence on the QoL of patients with SMA. 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 3 (22).
In contrast, the analysis of the QoL in families after SMA-NBS revealed results similar to other families with chronically ill children (diabetes mellitus and epilepsy) (23) with no differences in the mean values between treated vs. untreated children.
One year after NBS we have identified 23 non-working mothers and 3 non-working fathers. This is a result which fits to the situation of the families in Germany in 2019, where only 8,9% of mothers still work after childbearing (Federal Statistical Office), but the further development of this employment status should be evaluated in order not to miss the forgone family employment (FFE) due to the child’s health condition. FFE was defined 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 financial toxicity and the burden for families with chronically sick children (24).
To sum up, this study shows that the diagnosis of SMA has a severe impact on the families independent of the improved neurological outcome following SMA-NBS. There is no doubt that NBS will dramatically improve the prognosis of children with SMA. Nevertheless, our data show that caring of these patients and their families must include a multidisciplinary approach to address the psychosocial issues as well as neurological problems. Long-term data about the development of the QoL, the psychosocial burden and its impact on the development of the children have to be investigated in the future.