De Sanctis, R;
Coratti, G;
Pasternak, A;
Montes, J;
Pane, M;
Mazzone, ES;
Young, SD;
... Mercuri, E; + view all
(2016)
Developmental milestones in type I spinal muscular atrophy.
Neuromuscular Disorders
, 26
(11)
pp. 754-759.
10.1016/j.nmd.2016.10.002.
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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.
| Type: | Article |
|---|---|
| Title: | Developmental milestones in type I spinal muscular atrophy |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.nmd.2016.10.002 |
| Publisher version: | http://doi.org/10.1016/j.nmd.2016.10.002 |
| Language: | English |
| Additional information: | © 2016 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/ 4.0/). |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences, Neurosciences & Neurology, Spinal muscular atrophy, Hammersmith Infant Neurological Examination, Outcome measures, Motor milestones, NATURAL-HISTORY, CLASSIFICATION, INFANTS, AGE, SMA |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1528322 |
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