Results 61 to 70 of about 4,580 (188)

Autism spectrum disorder in children with spinal muscular atrophy type 1: Case series

Developmental Medicine &Child Neurology, EarlyView.
Autism spectrum disorder (ASD) was identified in 37.5% of children with SMA (n = 13). While IQ did not differ significantly between groups, adaptive functioning was reduced in those with co‐occurring ASD. Results support routine early neurodevelopmental screening in children with spinal muscular atrophy.
Lorena V. Rezende, Adriana B. Ortega, Daniel A. Do Valle, Tiago S. Bara, Mara L. Cordeiro   +4 more
wiley   +1 more source

Ethics and equity in access to disease‐modifying therapies and newborn screening for spinal muscular atrophy: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Outcomes of children with cerebral palsy receiving long‐term respiratory support. Aim To review barriers to ethical and equitable access to disease‐modifying therapies (DMTs) and newborn screening (NBS) for spinal muscular atrophy (SMA). Method We searched PubMed, Scopus, Web of Science, EBSCOhost, the Cochrane Library, Google Scholar, and Primo for ...
Serini Murugasen, Mariana Kruger, Marc Blockman, Jo M. Wilmshurst   +3 more
wiley   +1 more source

Response of plasma microRNAs to nusinersen treatment in patients with SMA

Annals of Clinical and Translational Neurology, 2022
Objective Spinal muscular atrophy (SMA) is a common genetic cause of infant mortality. Nusinersen treatment ameliorates the clinical outcome of SMA, however, some patients respond well, while others have limited response.
Irina T. Zaharieva, Mariacristina Scoto, Karolina Aragon‐Gawinska, Deborah Ridout, Bruno Doreste, Laurent Servais, Francesco Muntoni, Haiyan Zhou   +7 more
doaj   +1 more source

The Spinal Muscular Atrophy Functional Classification System

Developmental Medicine &Child Neurology, EarlyView.
The Spinal Muscular Atrophy Functional Classification System (SMAFCS) is a new four‐level functional mobility classification for spinal muscular atrophy, derived from Hammersmith Functional Motor Scale Expanded (HFMSE) thresholds and Functional Mobility Scale (FMS) groupings.
Jason J. Howard, H. Kerr Graham, M. Wade Shrader, Mary Schroth, Manish Kumar, Sadettin Ciftci   +5 more
wiley   +1 more source

Evaluation of the Efficacy of Nusinersen Treatment in Patients with Late-onset SMA Using the Hammersmith Functional Motor Scale Expanded

Journal of Behçet Uz Children's Hospital
Objective: Spinal muscular atrophy (SMA) is a hereditary disorder with progressive muscle weakness and atrophy. Nusinersen is an antisense oligonucleotide directed against SMN2 and has been shown in studies to improve the motor skills of patients.
Yiğithan Güzin, Ayşe Özbay Yıldız, Bakiye Tunçay, Pınar Gençpınar, Figen Baydan, Nihal Olgaç Dündar   +5 more
doaj   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1866-1877, September 2026.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Maternal‐Fetal Administration of Risdiplam Partially Rescues the SMNΔ7 Mouse Model of Spinal Muscular Atrophy

Annals of Neurology, Volume 100, Issue 3, Page 584-599, September 2026.
Objective Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene and subsequent reduction in the expression of survival motor neuron (SMN) protein. The disease is characterized by degeneration of α motor neurons and subsequent muscle atrophy.
Emma R. Sutton, Ariane Beauvais, Rebecca Yaworski, Hugh J. McMillan, Rashmi Kothary   +4 more
wiley   +1 more source

Evaluation of inpatient and emergency department healthcare resource utilization and costs pre- and post-nusinersen for the treatment of spinal muscular atrophy using United States claims

Journal of Comparative Effectiveness Research
Aim: Nusinersen, administered by intrathecal injection at a dose of 12 mg, is indicated across all ages for the treatment of spinal muscular atrophy (SMA).
Cong Zhu, Craig Zaidman, Bora Youn, Angela D Paradis, Stephanie Raynaud, Bridget A Neville, Nicole B Johnson   +6 more
doaj   +1 more source

The Illness Narratives of Children and Young People With Spinal Muscular Atrophy: A Scoping Review

Journal of Advanced Nursing, Volume 82, Issue 9, Page 8375-8390, September 2026.
ABSTRACT Aim(s) This review seeks to explore the illness narratives of children and young people focusing on their healthcare trajectories; the right to health; and the kind of stories told about them. Design This scoping review adopts a narrative approach to analyse how the illness experience of Spinal Muscular Atrophy is represented in the literature,
Marcela González‐Agüero, Constanza Quezada, Valentina Turén, Josefa Camelio, Martina De Filippi, Caroline Bradbury‐Jones, Julie Taylor   +6 more
wiley   +1 more source

Comprehensive Clinical Evaluation of Nusinersen Based on Multi-criteria Decision Analysis Method

Xiehe Yixue Zazhi
ObjectiveTo provide a theoretical basis for different drug decision-making scenarios by conducting a comprehensive clinical evaluation of nusinersen.MethodsBased on the method of multi-criteria decision analysis, a comprehensive clinical evaluation index
QU Jinghan, LIU Xin, TIAN Xin, AN Pengjiao, XU Tingting, ZHANG Bo   +5 more
doaj   +1 more source