: Neonatal 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.

Pane, M., Stanca, G., Ticci, C., Cutrona, C., De Sanctis, R., Pirinu, M., Coratti, G., Palermo, C., Berti, B., Leone, D., Sacchini, M., Cerboneschi, M., Fanelli, L., Norcia, G., Forcina, N., Capasso, A., Cicala, G., Antonaci, L., Ricci, M., Pera, M. C., Bravetti, C., Donati, M. A., Procopio, E., Abiusi, E., Vaisfeld, A., Onesimo, R., Tiziano, F. D., Mercuri, E. M., Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?, <<EUROPEAN JOURNAL OF PEDIATRICS>>, 2024; (Apr): N/A-N/A. [doi:10.1007/s00431-024-05546-y] [https://hdl.handle.net/10807/274977]

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

Pane, Marika;Cutrona, Costanza;De Sanctis, Roberto;Coratti, Giorgia;Fanelli, Lavinia;Capasso, Anna;Cicala, Gianpaolo;Antonaci, Laura;Ricci, Martina;Pera, Maria Carmela;Bravetti, Chiara;Abiusi, Emanuela;Vaisfeld, Alessandro;Onesimo, Roberta;Tiziano, Francesco Danilo;Mercuri, Eugenio Maria
2024

Abstract

: Neonatal 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.
2024
Inglese
Pane, M., Stanca, G., Ticci, C., Cutrona, C., De Sanctis, R., Pirinu, M., Coratti, G., Palermo, C., Berti, B., Leone, D., Sacchini, M., Cerboneschi, M., Fanelli, L., Norcia, G., Forcina, N., Capasso, A., Cicala, G., Antonaci, L., Ricci, M., Pera, M. C., Bravetti, C., Donati, M. A., Procopio, E., Abiusi, E., Vaisfeld, A., Onesimo, R., Tiziano, F. D., Mercuri, E. M., Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?, <<EUROPEAN JOURNAL OF PEDIATRICS>>, 2024; (Apr): N/A-N/A. [doi:10.1007/s00431-024-05546-y] [https://hdl.handle.net/10807/274977]
File in questo prodotto:
File Dimensione Formato  
Early neurological.pdf

accesso aperto

Licenza: Creative commons
Dimensione 877.73 kB
Formato Adobe PDF
877.73 kB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/274977
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus ND
  • ???jsp.display-item.citation.isi??? ND
social impact