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

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 sc...
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Autor*in:	Pane, Marika [verfasserIn] Stanca, Giulia [verfasserIn] Ticci, Chiara [verfasserIn] Cutrona, Costanza [verfasserIn] De Sanctis, Roberto [verfasserIn] Pirinu, Matteo [verfasserIn] Coratti, Giorgia [verfasserIn] Palermo, Concetta [verfasserIn] Berti, Beatrice [verfasserIn] Leone, Daniela [verfasserIn] Sacchini, Michele [verfasserIn] Cerboneschi, Margherita [verfasserIn] Fanelli, Lavinia [verfasserIn] Norcia, Giulia [verfasserIn] Forcina, Nicola [verfasserIn] Capasso, Anna [verfasserIn] Cicala, Gianpaolo [verfasserIn] Antonaci, Laura [verfasserIn] Ricci, Martina [verfasserIn] Pera, Maria Carmela [verfasserIn] Bravetti, Chiara [verfasserIn] Donati, Maria Alice [verfasserIn] Procopio, Elena [verfasserIn] Abiusi, Emanuela [verfasserIn] Vaisfeld, Alessandro [verfasserIn] Onesimo, Roberta [verfasserIn] Tiziano, Francesco Danilo [verfasserIn] Mercuri, Eugenio [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2024

Schlagwörter:	Newborn screening SMA Floppy infant module Neonatal neurological examination

Anmerkung:	© The Author(s) 2024

Übergeordnetes Werk:	Enthalten in: European journal of pediatrics - Springer Berlin Heidelberg, 1975, 183(2024), 7 vom: 18. Apr., Seite 2995-2999
Übergeordnetes Werk:	volume:183 ; year:2024 ; number:7 ; day:18 ; month:04 ; pages:2995-2999

Links:	Volltext

DOI / URN:	10.1007/s00431-024-05546-y

Katalog-ID:	SPR056313225

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245	1	0	\|a Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
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520			\|a 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.
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700	1		\|a Abiusi, Emanuela \|e verfasserin \|4 aut
700	1		\|a Vaisfeld, Alessandro \|e verfasserin \|4 aut
700	1		\|a Onesimo, Roberta \|e verfasserin \|4 aut
700	1		\|a Tiziano, Francesco Danilo \|e verfasserin \|4 aut
700	1		\|a Mercuri, Eugenio \|e verfasserin \|4 aut
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allfields	10.1007/s00431-024-05546-y doi (DE-627)SPR056313225 (SPR)s00431-024-05546-y-e DE-627 ger DE-627 rakwb eng 610 VZ 44.67 bkl Pane, Marika verfasserin aut Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome? 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 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. Newborn screening (dpeaa)DE-He213 SMA (dpeaa)DE-He213 Floppy infant module (dpeaa)DE-He213 Neonatal neurological examination (dpeaa)DE-He213 Stanca, Giulia verfasserin aut Ticci, Chiara verfasserin aut Cutrona, Costanza verfasserin aut De Sanctis, Roberto verfasserin aut Pirinu, Matteo verfasserin aut Coratti, Giorgia verfasserin aut Palermo, Concetta verfasserin aut Berti, Beatrice verfasserin aut Leone, Daniela verfasserin aut Sacchini, Michele verfasserin aut Cerboneschi, Margherita verfasserin aut Fanelli, Lavinia verfasserin aut Norcia, Giulia verfasserin aut Forcina, Nicola verfasserin aut Capasso, Anna verfasserin aut Cicala, Gianpaolo verfasserin aut Antonaci, Laura verfasserin aut Ricci, Martina verfasserin aut Pera, Maria Carmela verfasserin aut Bravetti, Chiara verfasserin aut Donati, Maria Alice verfasserin aut Procopio, Elena verfasserin aut Abiusi, Emanuela verfasserin aut Vaisfeld, Alessandro verfasserin aut Onesimo, Roberta verfasserin aut Tiziano, Francesco Danilo verfasserin aut Mercuri, Eugenio verfasserin aut Enthalten in European journal of pediatrics Springer Berlin Heidelberg, 1975 183(2024), 7 vom: 18. Apr., Seite 2995-2999 (DE-627)684135361 (DE-600)2647723-3 1432-1076 nnns volume:183 year:2024 number:7 day:18 month:04 pages:2995-2999 https://dx.doi.org/10.1007/s00431-024-05546-y X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.67 VZ AR 183 2024 7 18 04 2995-2999
spelling	10.1007/s00431-024-05546-y doi (DE-627)SPR056313225 (SPR)s00431-024-05546-y-e DE-627 ger DE-627 rakwb eng 610 VZ 44.67 bkl Pane, Marika verfasserin aut Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome? 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 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. Newborn screening (dpeaa)DE-He213 SMA (dpeaa)DE-He213 Floppy infant module (dpeaa)DE-He213 Neonatal neurological examination (dpeaa)DE-He213 Stanca, Giulia verfasserin aut Ticci, Chiara verfasserin aut Cutrona, Costanza verfasserin aut De Sanctis, Roberto verfasserin aut Pirinu, Matteo verfasserin aut Coratti, Giorgia verfasserin aut Palermo, Concetta verfasserin aut Berti, Beatrice verfasserin aut Leone, Daniela verfasserin aut Sacchini, Michele verfasserin aut Cerboneschi, Margherita verfasserin aut Fanelli, Lavinia verfasserin aut Norcia, Giulia verfasserin aut Forcina, Nicola verfasserin aut Capasso, Anna verfasserin aut Cicala, Gianpaolo verfasserin aut Antonaci, Laura verfasserin aut Ricci, Martina verfasserin aut Pera, Maria Carmela verfasserin aut Bravetti, Chiara verfasserin aut Donati, Maria Alice verfasserin aut Procopio, Elena verfasserin aut Abiusi, Emanuela verfasserin aut Vaisfeld, Alessandro verfasserin aut Onesimo, Roberta verfasserin aut Tiziano, Francesco Danilo verfasserin aut Mercuri, Eugenio verfasserin aut Enthalten in European journal of pediatrics Springer Berlin Heidelberg, 1975 183(2024), 7 vom: 18. Apr., Seite 2995-2999 (DE-627)684135361 (DE-600)2647723-3 1432-1076 nnns volume:183 year:2024 number:7 day:18 month:04 pages:2995-2999 https://dx.doi.org/10.1007/s00431-024-05546-y X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.67 VZ AR 183 2024 7 18 04 2995-2999
allfields_unstemmed	10.1007/s00431-024-05546-y doi (DE-627)SPR056313225 (SPR)s00431-024-05546-y-e DE-627 ger DE-627 rakwb eng 610 VZ 44.67 bkl Pane, Marika verfasserin aut Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome? 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 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. Newborn screening (dpeaa)DE-He213 SMA (dpeaa)DE-He213 Floppy infant module (dpeaa)DE-He213 Neonatal neurological examination (dpeaa)DE-He213 Stanca, Giulia verfasserin aut Ticci, Chiara verfasserin aut Cutrona, Costanza verfasserin aut De Sanctis, Roberto verfasserin aut Pirinu, Matteo verfasserin aut Coratti, Giorgia verfasserin aut Palermo, Concetta verfasserin aut Berti, Beatrice verfasserin aut Leone, Daniela verfasserin aut Sacchini, Michele verfasserin aut Cerboneschi, Margherita verfasserin aut Fanelli, Lavinia verfasserin aut Norcia, Giulia verfasserin aut Forcina, Nicola verfasserin aut Capasso, Anna verfasserin aut Cicala, Gianpaolo verfasserin aut Antonaci, Laura verfasserin aut Ricci, Martina verfasserin aut Pera, Maria Carmela verfasserin aut Bravetti, Chiara verfasserin aut Donati, Maria Alice verfasserin aut Procopio, Elena verfasserin aut Abiusi, Emanuela verfasserin aut Vaisfeld, Alessandro verfasserin aut Onesimo, Roberta verfasserin aut Tiziano, Francesco Danilo verfasserin aut Mercuri, Eugenio verfasserin aut Enthalten in European journal of pediatrics Springer Berlin Heidelberg, 1975 183(2024), 7 vom: 18. Apr., Seite 2995-2999 (DE-627)684135361 (DE-600)2647723-3 1432-1076 nnns volume:183 year:2024 number:7 day:18 month:04 pages:2995-2999 https://dx.doi.org/10.1007/s00431-024-05546-y X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.67 VZ AR 183 2024 7 18 04 2995-2999
allfieldsGer	10.1007/s00431-024-05546-y doi (DE-627)SPR056313225 (SPR)s00431-024-05546-y-e DE-627 ger DE-627 rakwb eng 610 VZ 44.67 bkl Pane, Marika verfasserin aut Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome? 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 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. Newborn screening (dpeaa)DE-He213 SMA (dpeaa)DE-He213 Floppy infant module (dpeaa)DE-He213 Neonatal neurological examination (dpeaa)DE-He213 Stanca, Giulia verfasserin aut Ticci, Chiara verfasserin aut Cutrona, Costanza verfasserin aut De Sanctis, Roberto verfasserin aut Pirinu, Matteo verfasserin aut Coratti, Giorgia verfasserin aut Palermo, Concetta verfasserin aut Berti, Beatrice verfasserin aut Leone, Daniela verfasserin aut Sacchini, Michele verfasserin aut Cerboneschi, Margherita verfasserin aut Fanelli, Lavinia verfasserin aut Norcia, Giulia verfasserin aut Forcina, Nicola verfasserin aut Capasso, Anna verfasserin aut Cicala, Gianpaolo verfasserin aut Antonaci, Laura verfasserin aut Ricci, Martina verfasserin aut Pera, Maria Carmela verfasserin aut Bravetti, Chiara verfasserin aut Donati, Maria Alice verfasserin aut Procopio, Elena verfasserin aut Abiusi, Emanuela verfasserin aut Vaisfeld, Alessandro verfasserin aut Onesimo, Roberta verfasserin aut Tiziano, Francesco Danilo verfasserin aut Mercuri, Eugenio verfasserin aut Enthalten in European journal of pediatrics Springer Berlin Heidelberg, 1975 183(2024), 7 vom: 18. Apr., Seite 2995-2999 (DE-627)684135361 (DE-600)2647723-3 1432-1076 nnns volume:183 year:2024 number:7 day:18 month:04 pages:2995-2999 https://dx.doi.org/10.1007/s00431-024-05546-y X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.67 VZ AR 183 2024 7 18 04 2995-2999
allfieldsSound	10.1007/s00431-024-05546-y doi (DE-627)SPR056313225 (SPR)s00431-024-05546-y-e DE-627 ger DE-627 rakwb eng 610 VZ 44.67 bkl Pane, Marika verfasserin aut Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome? 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 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. Newborn screening (dpeaa)DE-He213 SMA (dpeaa)DE-He213 Floppy infant module (dpeaa)DE-He213 Neonatal neurological examination (dpeaa)DE-He213 Stanca, Giulia verfasserin aut Ticci, Chiara verfasserin aut Cutrona, Costanza verfasserin aut De Sanctis, Roberto verfasserin aut Pirinu, Matteo verfasserin aut Coratti, Giorgia verfasserin aut Palermo, Concetta verfasserin aut Berti, Beatrice verfasserin aut Leone, Daniela verfasserin aut Sacchini, Michele verfasserin aut Cerboneschi, Margherita verfasserin aut Fanelli, Lavinia verfasserin aut Norcia, Giulia verfasserin aut Forcina, Nicola verfasserin aut Capasso, Anna verfasserin aut Cicala, Gianpaolo verfasserin aut Antonaci, Laura verfasserin aut Ricci, Martina verfasserin aut Pera, Maria Carmela verfasserin aut Bravetti, Chiara verfasserin aut Donati, Maria Alice verfasserin aut Procopio, Elena verfasserin aut Abiusi, Emanuela verfasserin aut Vaisfeld, Alessandro verfasserin aut Onesimo, Roberta verfasserin aut Tiziano, Francesco Danilo verfasserin aut Mercuri, Eugenio verfasserin aut Enthalten in European journal of pediatrics Springer Berlin Heidelberg, 1975 183(2024), 7 vom: 18. Apr., Seite 2995-2999 (DE-627)684135361 (DE-600)2647723-3 1432-1076 nnns volume:183 year:2024 number:7 day:18 month:04 pages:2995-2999 https://dx.doi.org/10.1007/s00431-024-05546-y X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.67 VZ AR 183 2024 7 18 04 2995-2999
language	English
source	Enthalten in European journal of pediatrics 183(2024), 7 vom: 18. Apr., Seite 2995-2999 volume:183 year:2024 number:7 day:18 month:04 pages:2995-2999
sourceStr	Enthalten in European journal of pediatrics 183(2024), 7 vom: 18. Apr., Seite 2995-2999 volume:183 year:2024 number:7 day:18 month:04 pages:2995-2999
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Newborn screening SMA Floppy infant module Neonatal neurological examination
dewey-raw	610
isfreeaccess_bool	true
container_title	European journal of pediatrics
authorswithroles_txt_mv	Pane, Marika @@aut@@ Stanca, Giulia @@aut@@ Ticci, Chiara @@aut@@ Cutrona, Costanza @@aut@@ De Sanctis, Roberto @@aut@@ Pirinu, Matteo @@aut@@ Coratti, Giorgia @@aut@@ Palermo, Concetta @@aut@@ Berti, Beatrice @@aut@@ Leone, Daniela @@aut@@ Sacchini, Michele @@aut@@ Cerboneschi, Margherita @@aut@@ Fanelli, Lavinia @@aut@@ Norcia, Giulia @@aut@@ Forcina, Nicola @@aut@@ Capasso, Anna @@aut@@ Cicala, Gianpaolo @@aut@@ Antonaci, Laura @@aut@@ Ricci, Martina @@aut@@ Pera, Maria Carmela @@aut@@ Bravetti, Chiara @@aut@@ Donati, Maria Alice @@aut@@ Procopio, Elena @@aut@@ Abiusi, Emanuela @@aut@@ Vaisfeld, Alessandro @@aut@@ Onesimo, Roberta @@aut@@ Tiziano, Francesco Danilo @@aut@@ Mercuri, Eugenio @@aut@@
publishDateDaySort_date	2024-04-18T00:00:00Z
hierarchy_top_id	684135361
dewey-sort	3610
id	SPR056313225
language_de	englisch
fullrecord	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000naa a22002652 4500</leader><controlfield tag="001">SPR056313225</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20240622064657.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">240622s2024 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1007/s00431-024-05546-y</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)SPR056313225</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(SPR)s00431-024-05546-y-e</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">44.67</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Pane, Marika</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2024</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">© The Author(s) 2024</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">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.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Newborn screening</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">SMA</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Floppy infant module</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " 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author	Pane, Marika
spellingShingle	Pane, Marika ddc 610 bkl 44.67 misc Newborn screening misc SMA misc Floppy infant module misc Neonatal neurological examination Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
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topic_title	610 VZ 44.67 bkl Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome? Newborn screening (dpeaa)DE-He213 SMA (dpeaa)DE-He213 Floppy infant module (dpeaa)DE-He213 Neonatal neurological examination (dpeaa)DE-He213
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topic_unstemmed	ddc 610 bkl 44.67 misc Newborn screening misc SMA misc Floppy infant module misc Neonatal neurological examination
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title	Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
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title_full	Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
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author_browse	Pane, Marika Stanca, Giulia Ticci, Chiara Cutrona, Costanza De Sanctis, Roberto Pirinu, Matteo Coratti, Giorgia Palermo, Concetta Berti, Beatrice Leone, Daniela Sacchini, Michele Cerboneschi, Margherita Fanelli, Lavinia Norcia, Giulia Forcina, Nicola Capasso, Anna Cicala, Gianpaolo Antonaci, Laura Ricci, Martina Pera, Maria Carmela Bravetti, Chiara Donati, Maria Alice Procopio, Elena Abiusi, Emanuela Vaisfeld, Alessandro Onesimo, Roberta Tiziano, Francesco Danilo Mercuri, Eugenio
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title_sort	early neurological signs in infants identified through neonatal screening for sma: do they predict outcome?
title_auth	Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
abstract	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. © The Author(s) 2024
abstractGer	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. © The Author(s) 2024
abstract_unstemmed	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. © The Author(s) 2024
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title_short	Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
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author2	Stanca, Giulia Ticci, Chiara Cutrona, Costanza De Sanctis, Roberto Pirinu, Matteo Coratti, Giorgia Palermo, Concetta Berti, Beatrice Leone, Daniela Sacchini, Michele Cerboneschi, Margherita Fanelli, Lavinia Norcia, Giulia Forcina, Nicola Capasso, Anna Cicala, Gianpaolo Antonaci, Laura Ricci, Martina Pera, Maria Carmela Bravetti, Chiara Donati, Maria Alice Procopio, Elena Abiusi, Emanuela Vaisfeld, Alessandro Onesimo, Roberta Tiziano, Francesco Danilo Mercuri, Eugenio
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Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?

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