Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?

Conclusion: Our findings suggest that early clinical signs may contribute to predict motor milestones development.What is Known:• There is increasing evidence of heterogeneity among the SMA newborns identified via NBS.• The proposed nosology describes a clinically silent disease, an intermediate category (‘paucisymptomatic’) and ‘symptomatic SMA’.What is New:• The presence of minimal clinical signs at birth does not prevent the possibility to achieve independent walking but this may occur with some delay.• The combination of genotype at SMN locus and clinical evaluation may better predict the possibility to achieve milestones.
Source: European Journal of Pediatrics - Category: Pediatrics Source Type: research