P206 Impaired neurodevelopment in children with 5q-SMA - 2 years after newborn screening

Numerous studies have consistently found no serious adverse effects of reduced SMN protein expression on the development of cognitive function in SMA patients. However, the average intelligence quotient in SMA patients has been described as higher than average. The cognitive development of SMA patients identified by newborn screening remains largely unknown. A total of 47 SMA patients from 46 families identified through newborn screening between January 2018 and December 2020 were eligible for developmental testing using Bayley III (BSID) starting from the age of 12 months.

Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: H. K ölbel, M. Kopka, L. Modler, S. Plum, A. Blaschek, U. Schara-Schmidt, K. Vill, O. Schwartz, W. Müller-Felber Source Type: research