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Developmental milestones in type I spinal muscular atrophy
Roberto De Sanctis1, Giorgia Coratti1, Amy Pasternak2
1Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
Insights
Type I Spinal Muscular Atrophy (SMA) infants rarely achieve developmental milestones, even with supportive care. Most infants in this study did not achieve sitting or walking, highlighting the need for effective interventions.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Type I Spinal Muscular Atrophy (SMA) is a severe genetic neuromuscular disorder.
- Infants with Type I SMA typically do not achieve motor milestones like sitting unsupported.
- Understanding the natural history of developmental milestones is crucial for evaluating therapeutic interventions.
Purpose of the Study:
- To longitudinally assess developmental milestones in infants with Type I SMA.
- To evaluate the achievement of motor milestones using the Hammersmith Infant Neurological Examination (HINE).
- To establish baseline data for future interventional trials in Type I SMA.
Main Methods:
- Retrospective, multicentric study design.
- Inclusion of 33 infants diagnosed with Type I SMA.
- Longitudinal assessment of developmental milestones via the HINE.
Main Results:
- All patients scored 0/4 on items assessing sitting, rolling, crawling, standing, and walking.
- Partial achievement (1/4) was observed in head control (n=13), kicking (n=15), and hand grasp (n=18).
- Infants with symptom onset after 6 months showed longer preservation of partial scores compared to those with earlier onset.
Conclusions:
- Developmental milestones are rarely achieved, even partially, in the natural history of Type I SMA infants.
- Major milestones like independent sitting or rolling over were not achieved by any infant.
- These findings underscore the limited efficacy of current standards of care in promoting motor development and identify key outcomes for future trials.
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.
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