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.
Developmental milestones in type I spinal muscular atrophy / De Sanctis, Roberto; Coratti, Giorgia; Pasternak, Amy; Montes, Jacqueline; Pane, Marika; Mazzone, Elena Stacy; Young, Sally Dunaway; Salazar, Rachel; Quigley, Janet; Pera, Maria Carmela; Antonaci, Laura; Lapenta, Leonardo; Glanzman, Allan M.; Tiziano, Francesco Danilo; Muntoni, Francesco; Darras, Basil T.; De Vivo, Darryl C.; Finkel, Richard; Mercuri, Eugenio Maria. - In: NEUROMUSCULAR DISORDERS. - ISSN 0960-8966. - 26:11(2016), pp. 754-759. [10.1016/j.nmd.2016.10.002]
Developmental milestones in type I spinal muscular atrophy
Pera, Maria Carmela;
2016-01-01
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
