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Developmental milestones in type I spinal muscular atrophy

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. Green open access

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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
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 > 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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