TY - JOUR
T1 - Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
AU - Pane, Marika
AU - Stanca, Giulia
AU - Ticci, Chiara
AU - Cutrona, Costanza
AU - De Sanctis, Roberto
AU - Pirinu, Matteo
AU - Coratti, Giorgia
AU - Palermo, Concetta
AU - Berti, Beatrice
AU - Leone, Daniela
AU - Sacchini, Michele
AU - Cerboneschi, Margherita
AU - Fanelli, Lavinia
AU - Norcia, Giulia
AU - Forcina, Nicola
AU - Capasso, Anna
AU - Cicala, Gianpaolo
AU - Antonaci, Laura
AU - Ricci, Martina
AU - Pera, Maria Carmela
AU - Bravetti, Chiara
AU - Donati, Maria Alice
AU - Procopio, Elena
AU - Abiusi, Emanuela
AU - Vaisfeld, Alessandro
AU - Onesimo, Roberta
AU - Tiziano, Francesco Danilo
AU - Mercuri, Eugenio Maria
PY - 2024
Y1 - 2024
N2 - : 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.
AB - : 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.
KW - Floppy infant module
KW - Neonatal neurological examination
KW - Newborn screening
KW - SMA
KW - Floppy infant module
KW - Neonatal neurological examination
KW - Newborn screening
KW - SMA
UR - https://publicatt.unicatt.it/handle/10807/274977
U2 - 10.1007/s00431-024-05546-y
DO - 10.1007/s00431-024-05546-y
M3 - Article
SN - 0340-6199
SP - N/A-N/A
JO - European Journal of Pediatrics
JF - European Journal of Pediatrics
IS - Apr
ER -