From unexplained hypotonia to screen-positive spinal muscular atrophy: why standardized clinical assessment matters

Affiliations

¹ The Dubowitz Neuromuscular Centre, Developmental Neurosciences Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre & Great Ormond Street Hospital NHS Foundation Trust, London, UK. g.baranello@ucl.ac.uk.

Editorial

Giovanni Baranello. Eur J Pediatr. 2025.

. 2025 Nov 15;184(12):762.

doi: 10.1007/s00431-025-06610-x.

¹ The Dubowitz Neuromuscular Centre, Developmental Neurosciences Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre & Great Ormond Street Hospital NHS Foundation Trust, London, UK. g.baranello@ucl.ac.uk.

No abstract available

Conflict of interest statement

Declarations. Competing interests: The authors declare no competing interests.

Development of the "SMA NNE," a short neonatal neurological examination for newborns with spinal muscular atrophy.
Mercuri E, Coratti G, Cutrona C, De Sanctis R, Stanca G, Cicala G, Villa M, Capasso A, Arpaia C, Sbarbati M, Krosschell K, Romeo D, Berti B, Finkel R, Pane M. Mercuri E, et al. Eur J Pediatr. 2025 Aug 19;184(9):562. doi: 10.1007/s00431-025-06382-4. Eur J Pediatr. 2025. PMID: 40825903 Free PMC article.
Application of the neonatal 'floppy module' to older infants: can it be used for differential diagnosis?
Cutrona C, Sbarbati M, Malaspina M, Velli C, Sini F, Onesimo R, Coratti G, Romeo DM, Pane M, Mercuri E. Cutrona C, et al. Eur J Pediatr. 2025 Oct 7;184(11):661. doi: 10.1007/s00431-025-06483-0. Eur J Pediatr. 2025. PMID: 41055751 Free PMC article.

1. Mercuri E, Ricci D, Pane M, Baranello G (2005) The neurological examination of the newborn baby. Early Hum Dev 81(12):947–956. https://doi.org/10.1016/j.earlhumdev.2005.10.007 - DOI - PubMed
1. Morton SU, Costain G, French CE, Wakeling E, Szuto A, Christodoulou J, Cohn R, Darras BT, Wojcik MH, D’Gama AM, Dowling JJ, Lunke S, Muntoni F, Raymond L, Rowitch D, Beggs AH, Stark Z, Agrawal PB (2025) Exome and genome sequencing to diagnose the genetic basis of neonatal hypotonia: an international consortium study. Neurology 104(1):e210106. https://doi.org/10.1212/WNL.0000000000210106 - DOI - PubMed
1. Cutrona C, Sbarbati M, Malaspina M, Velli C, Sini F, Onesimo R, Coratti G, Romeo DM, Pane M, Mercuri E (2025) Application of the neonatal ‘floppy module’ to older infants: can it be used for differential diagnosis? Eur J Pediatr 184(11):661. https://doi.org/10.1007/s00431-025-06483-0 - DOI - PubMed - PMC
1. Finkel RS, Benatar M (2022) Pre-symptomatic spinal muscular atrophy: a proposed nosology. Brain 145(7):2247–2249. https://doi.org/10.1093/brain/awac125 - DOI - PubMed
1. Mercuri E, Coratti G, Cutrona C, De Sanctis R, Stanca G, Cicala G, Villa M, Capasso A, Arpaia C, Sbarbati M, Krosschell K, Romeo D, Berti B, Finkel R, Pane M (2025) Development of the “SMA NNE”, a short neonatal neurological examination for newborns with spinal muscular atrophy. Eur J Pediatr 184(9):562. https://doi.org/10.1007/s00431-025-06382-4 - DOI - PubMed - PMC