Journal
NEUROMUSCULAR DISORDERS
Volume 26, Issue 11, Pages 754-759Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2016.10.002
Keywords
Spinal muscular atrophy; Hammersmith Infant Neurological Examination; Outcome measures; Motor milestones
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Funding
- Famiglie SMA and Telethon (Italy) [GSP 13002]
- SMA Foundation
- SMA Trust (UK)
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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 studyachieved a major milestone such as rolling over, or sitting independently, which would therefore represent robust outcomes in future interventional trials. (C) 2016 The Authors. Published by Elsevier B.V.
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