Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening.

OBJECTIVE: Numerous studies have consistently found that reduced SMN protein expression does not severely affect cognitive function in SMA patients. However, the average intelligence quotient of SMA patients has ranged above to below average in different studies. The cognitive development of SMA patients identified through newborn screening remains largely unknown. METHODS: 40 of 47 eligible SMA patients (23 females/17 males) from 39 families identified through newborn screening between January 2018 and December 2020 underwent developmental testing using Bayley III (BSID) after the 2 years of age. The mean age was 29.25 months (23-42 months). 17 patients had 2, 11 patients had 3 and 12 patients had ≥4 copies of SMN2. RESULTS: cognitive scale: mean 94.55 (SD 24.01); language scale: mean 86.09 (SD 26.41); motor scale: 81.28 (SD 28.07). Overall, the cognitive scales show that 14 children were below average, 20 children were average and 6 children were above average. 10/14 children with below average scores had 2 SMN2 copies. The post-hoc pairwise comparisons showed that the cognition main scale was significantly more sensitive to the number of SMN2 copies than the motor main scale of the BSID (MΔ= 10.27, p = 0.014). There is also evidence that cognition scored higher than the language main scale (MΔ= 7.11, p = 0.090). CONCLUSION: The impaired cognitive development of SMA children with 2 SMN2 copies, despite early initiation of therapy, underscores the critical role of the SMN protein in the early stages of brain development.

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

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.

Development of Subjective Well-Being in Adolescence.

Despite the importance of subjective well-being (SWB) for students' mental and physical health, there is a lack of longitudinal studies investigating the development of SWB in adolescents and what factors are associated with it over time. The present study seeks to shed further light on this question by investigating adolescents longitudinally. A sample of German academic tracks students (N = 476) from five schools were followed longitudinally over a time period of 30 months with four measurement points from Grade 11 to Grade 13. Alongside the longitudinal assessment of SWB (mood and life satisfaction), a range of other factors were also assessed at t1 including; demographic factors (sex, age, socio-economic status (HISEI)), intelligence, grades (report cards provided by the schools), personality (neuroticism, extraversion) and perceived parental expectations and support. Latent growth curve models were conducted to investigate the development of SWB and its correlates. On average, mood and life satisfaction improved at the end of mandatory schooling. However, students significantly differed in this pattern of change. Students' life satisfaction developed more positively if students had good grades at t1. Furthermore, even though introverted students started with lower life satisfaction at t1, extraverts' life showed greater increases over time. Changes in mood were associated with socio-economic background; the higher the HISEI the more positive the change. As social comparisons in school performance are almost inevitable, schools should intervene to buffer the influence of school grades on students' SWB.