title: Developmental milestones in type I spinal muscular atrophy.
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.
authors: Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
authors: Roberto
authors: R
authors: De Sanctis
authors: Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
authors: Giorgia
authors: G
authors: Coratti
authors: Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, USA.
authors: Amy
authors: A
authors: Pasternak
authors: Department of Neurology, Columbia University Medical Center, New York, USA.
authors: Jacqueline
authors: J
authors: Montes
authors: Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
authors: Marika
authors: M
authors: Pane
authors: Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
authors: Elena S
authors: ES
authors: Mazzone
authors: Department of Neurology, Columbia University Medical Center, New York, USA.
authors: Sally Dunaway
authors: SD
authors: Young
authors: Department of Neurology, Columbia University Medical Center, New York, USA.
authors: Rachel
authors: R
authors: Salazar
authors: Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, USA.
authors: Janet
authors: J
authors: Quigley
authors: Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
authors: Maria C
authors: MC
authors: Pera
authors: Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
authors: Laura
authors: L
authors: Antonaci
authors: Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
authors: Leonardo
authors: L
authors: Lapenta
authors: Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, USA.
authors: Allan M
authors: AM
authors: Glanzman
authors: Institute of Genetics, Catholic University, Rome, Italy.
authors: Danilo
authors: D
authors: Tiziano
authors: Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
authors: Francesco
authors: F
authors: Muntoni
authors: Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, USA.
authors: Basil T
authors: BT
authors: Darras
authors: Department of Neurology, Columbia University Medical Center, New York, USA.
authors: Darryl C
authors: DC
authors: De Vivo
authors: Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.
authors: Richard
authors: R
authors: Finkel
authors: Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy. Electronic address: eumercuri@gmail.com.
authors: Eugenio
authors: E
authors: Mercuri
mesh_terms: D002657:Child Development; D002675:Child, Preschool; D018450:Disease Progression; D006801:Humans; D007223:Infant; D008137:Longitudinal Studies; D009048:Motor Skills; D009460:Neurologic Examination; D012189:Retrospective Studies; D014897:Spinal Muscular Atrophies of Childhood / Q000503:physiopathology* / Q000628:therapy
keywords: Hammersmith Infant Neurological Examination; Motor milestones; Outcome measures; Spinal muscular atrophy