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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.

Author information

1
Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
2
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, USA.
3
Department of Neurology, Columbia University Medical Center, New York, USA.
4
Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, USA.
5
Institute of Genetics, Catholic University, Rome, Italy.
6
Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
7
Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.
8
Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy. Electronic address: eumercuri@gmail.com.

Abstract

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.

KEYWORDS:

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

PMID:
27769560
PMCID:
PMC5091285
DOI:
10.1016/j.nmd.2016.10.002
[Indexed for MEDLINE]
Free PMC Article

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