Developmental milestones in type I spinal muscular atrophy

Roberto De Sanctis, Giorgia Coratti, Amy Pasternak, Jacqueline Montes, Marika Pane, Elena Stacy Mazzone, Sally Dunaway Young, Rachel Salazar, Janet Quigley, Maria Carmela Pera, Laura Antonaci, Leonardo Lapenta, Allan M. Glanzman, Francesco Danilo Tiziano, Francesco Muntoni, Basil T. Darras, Darryl C. De Vivo, Richard Finkel, Eugenio Maria Mercuri*

*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivistaArticolo in rivista

56 Citazioni (Scopus)


The aim of this retrospective multicentric study was to assess developmental milestones longitudinally in type I SMA infants using the Hammersmith Infant Neurological Examination. Thirty-three type I SMA infants, who classically do not achieve the ability to sit unsupported, were included in the study. Our results confirmed that all patients had a score of 0 out of a scale of 4 on items assessing sitting, rolling, crawling, standing or walking. A score of more than 0 was only achieved in three items: head control (n = 13), kicking (n = 15) and hand grasp (n = 18). In these items, the maximal score achieved was 1 out of a scale of 4, indicating only partial achievement of the milestone. Infants with symptom onset after 6 months of age had longer preservation of a score of 1 when compared to those with onset before 6 months of age. Our results suggest that even when current standards of care are applied, developmental milestones are rarely even partially achieved as part of natural history in type I SMA infants. No infants in this study achieved a major milestone such as rolling over, or sitting independently, which would therefore represent robust outcomes in future interventional trials.
Lingua originaleEnglish
pagine (da-a)754-759
Numero di pagine6
RivistaNeuromuscular Disorders
Stato di pubblicazionePubblicato - 2016


  • Genetics (clinical)
  • Hammersmith Infant Neurological Examination
  • Motor milestones
  • Neurology
  • Neurology (clinical)
  • Outcome measures
  • Pediatrics, Perinatology and Child Health
  • Spinal muscular atrophy


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