Developmental milestones in type I spinal muscular atrophy

Autor: Roberto De Sanctis, Sally Dunaway Young, Rachel Salazar, Jacqueline Montes, Danilo Tiziano, Leonardo Lapenta, Francesco Muntoni, Laura Antonaci, Allan M. Glanzman, Elena S. Mazzone, Eugenio Mercuri, Basil T. Darras, Maria Carmela Pera, Darryl C. De Vivo, Amy Pasternak, Richard S. Finkel, Giorgia Coratti, Marika Pane, Janet Quigley
Rok vydání: 2016
Předmět:
0301 basic medicine
medicine.medical_specialty
Hammersmith Infant Neurological Examination
Motor milestones
Outcome measures
Spinal muscular atrophy
Pediatrics
Perinatology and Child Health
Neurology
Neurology (clinical)
Genetics (clinical)
Clinical Neurology
Neurological examination
Spinal Muscular Atrophies of Childhood
Sitting
Settore MED/03 - GENETICA MEDICA
Pediatrics
Article
03 medical and health sciences
Child Development
0302 clinical medicine
medicine
Milestone (project management)
Humans
Genetics(clinical)
Longitudinal Studies
Pediatrics
Perinatology
and Child Health
Retrospective Studies
Neurologic Examination
Type I Spinal Muscular Atrophy
medicine.diagnostic_test
business.industry
Infant
Perinatology and Child Health
medicine.disease
SMA
Natural history
Settore MED/26 - NEUROLOGIA
030104 developmental biology
Motor Skills
Child
Preschool
Developmental Milestone
Disease Progression
Physical therapy
business
030217 neurology & neurosurgery
Zdroj: Neuromuscular Disorders
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2016.10.002
Popis: Highlights • This paper reports patterns of natural progression in type I SMA. • The HINE is used to capture motor developmental milestones in SMA. • Motor developmental milestones are rarely acquired in type I SMA infants.
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.
Databáze: OpenAIRE
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