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

• DOI: 10.1007/s00431-024-05546-y
• Publication Date: 2024-04-18T15:01:51Z
• Authors: Marika Pane; Giulia Stanca; Chiara Ticci; Costanza Cutrona; Roberto De Sanctis; Matteo Pirinu; Giorgia Coratti; Concetta Palermo; Beatrice Berti; Daniela Leone; Michele Sacchini; Margherita Cerbon...; Lavinia Fanelli; Giulia Norcia; Nicola Forcina; Anna Capasso; Gianpaolo Cicala; Laura Antonaci; Martina Ricci; Maria Carmela Pera; Chiara Bravetti; Maria Alice Donati; Elena Procopio; Emanuela Abiusi; Alessandro Vaisfeld; Roberta Onesimo; Francesco Danilo ...; Eugenio Mercuri
• Keywords: Newborn screening; Male; Neurologic Examination; Research; Floppy infant module; Infant, Newborn; Infant; 03 medical and health sciences; Neonatal Screening; Child Development; 0302 clinical medicine; Floppy infant module; Neonatal neurological examination; Newborn screening; SMA; Neonatal neurological examination; Child, Preschool; Humans; Female; SMA; Prospective Studies; Follow-Up Studies

AbstractNeonatal screening for SMA has allowed the identification of infants who may present with early clinical signs. Our aim was to establish whether the presence and the severity of early clinical signs have an effect on the development of motor milestones. Infants identified through newborn screening were prospectively assessed using a structured neonatal neurological examination and an additional module developed for the assessment of floppy infants. As part of the follow-up, all infants were assessed using the HINE-2 to establish developmental milestones. Only infants with at least 24 months of follow-up were included. Normal early neurological examination (n = 11) was associated with independent walking before the age of 18 months while infants with early clinical signs of SMA (n = 4) did not achieve ambulation (duration follow-up 33.2 months). Paucisymptomatic patients (n = 3) achieved ambulation, one before the age of 18 months and the other 2 between 22 and 24 months. 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.