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Newborn screening for 5qSMA offers the potential for early, ideally pre-symptomatic, therapeutic intervention. However, limited data exist on the outcomes of individuals with 4 copies of SMN2, and there is no consensus within the SMA treatment community regarding early treatment initiation in this subgroup. To provide evidence-based insights into disease progression, we performed a retrospective analysis of 268 patients with 4 copies of SMN2 from the SMArtCARE registry in Germany, Austria and Switzerland. Inclusion criteria required comprehensive baseline data and diagnosis outside of newborn screening. Only data prior to initiation of disease-modifying treatment were included. The median age at disease onset was 3.0 years, with a mean of 6.4 years. Significantly, 55% of patients experienced symptoms before the age of 36 months. 3% never learned to sit unaided, a further 13% never gained the ability to walk independently and 33% of ambulatory patients lost this ability during the course of the disease. 43% developed scoliosis, 6.3% required non-invasive ventilation and 1.1% required tube feeding. In conclusion, our study, in line with previous observations, highlights the substantial phenotypic heterogeneity in SMA. Importantly, this study provides novel insights: the median age of disease onset in patients with 4 SMN2 copies typically occurs before school age, and in half of the patients even before the age of three years. These findings support a proactive approach, particularly early treatment initiation, in this subset of SMA patients diagnosed pre-symptomatically. However, it is important to recognize that the register will not include asymptomatic individuals. [ABSTRACT FROM AUTHOR]

Background: Recent studies showed the benefit or even need of hearing aids or cochlear implants in children with unilateral hearing loss to improve localization abilities and speech intelligibility. Therefore, the Audiology working group of the Austrian ENT society adopted the SAV-concept in 2017 (Screening Abklärung Versorgung von konnatalen Hörstörungen - Konzeptpapier 2017 AG Audiologie) to establish methods for testing, the mode of testing both ears, the desired schedule for the screening process and the subsequent therapy., Methods: The screening data were collected via questionnaires sent to all maternity and neonatal wards in different districts by responsible persons of the Austrian ENT society. Data on the implementation of the SAV concept were evaluated retrospectively based on the responses for the regions of Lower Austria and Burgenland., Results: The feedback, the implementation and responsibility for the screening program in respect of method and schedule differs throughout the federal states of Austria as well as in hospitals of state health organizations., Conclusion: Austria in comparison to other European countries is missing a central documentation and tracking system via a governmental screening coordination office as the data are not generally transferred to a common birth register. Therefore, different timetables and organization for the universal new born hearing screening in the federal states as well as in state organizations were found causing a delayed diagnosis and treatment of children with unilateral hearing loss., (© 2021. Springer-Verlag GmbH Austria, ein Teil von Springer Nature.)