Creat membership Creat membership
Sign in

Forgot password?

Confirm
  • Forgot password?
    Sign Up
  • Confirm
    Sign In
Creat membership Creat membership
Sign in

Forgot password?

Confirm
  • Forgot password?
    Sign Up
  • Confirm
    Sign In
Collection
For ¥0.57 per day, unlimited downloads CREATE MEMBERSHIP Download

toTop

If you have any feedback, Please follow the official account to submit feedback.

Turn on your phone and scan

home > search >

Developmental milestones in type I spinal muscular atrophy

Author:
De Sanctis, Roberto  Coratti, Giorgia  Pasternak, Amy  Montes, Jacqueline  Pane, Marika  Mazzone, Elena S.  Young, Sally Dunaway  Salazar, Rachel  Quigley, Janet  Pera, Maria C.  Antonaci, Laura  Lapenta, Leonardo  Glanzman, Allan M.  Tiziano, Danilo  Muntoni, Francesco  Darras, Basil T.  De Vivo, Darryl C.  Finkel, Richard  Mercuri, Eugenio  


Journal:
NEUROMUSCULAR DISORDERS


Issue Date:
2016


Abstract(summary):

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 =3D 13), kicking (n =3D 15) and hand grasp (n =3D 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 studyachieved a major milestone such as rolling over, or sitting independently, which would therefore represent robust outcomes in future interventional trials. (C) 2016 The Authors. Published by Elsevier B.V.


Page:
754---759


VIEW PDF

The preview is over

If you wish to continue, please create your membership or download this.

Create Membership

Similar Literature

Submit Feedback

This function is a member function, members do not limit the number of downloads