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Neuromuscul Disord. 2016 Nov;26(11):754-759. doi: 10.1016/j.nmd.2016.10.002. Epub 2016 Oct 5.

Developmental milestones in type I spinal muscular atrophy.

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Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, USA.
Department of Neurology, Columbia University Medical Center, New York, USA.
Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, USA.
Institute of Genetics, Catholic University, Rome, Italy.
Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.
Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy. Electronic address:


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.


Hammersmith Infant Neurological Examination; Motor milestones; Outcome measures; Spinal muscular atrophy

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