Results 51 to 60 of about 3,114 (145)

Cognitive and neurodevelopmental disorders in spinal muscular atrophy type I at the time of disease‐modifying therapies

Developmental Medicine &Child Neurology, EarlyView.
Abstract After treatment with new disease‐modifying therapies, cognitive and neurodevelopmental aspects have been observed in individuals with spinal muscular atrophy (SMA). Emerging evidence suggests that children with SMA type 1 may experience cognitive, language, and behavioural delays, with reported rates of neurodevelopmental difficulties ranging ...
Giorgia Coratti, Bianca Buchignani, Eugenio Mercuri   +2 more
wiley   +1 more source

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

Journal of Advanced Nursing, EarlyView.
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

Preliminary insights into RNA in CSF of pediatric SMA patients after 6 months of nusinersen

Biology Direct, 2023
Background Spinal muscular atrophy (SMA) is a rare autosomal-recessive neurodegenerative disorder caused by mutations in survival motor neuron 1 (SMN1) gene, and consequent loss of function of SMN protein, which results in progressive loss of lower motor
M. Garofalo, S. Bonanno, S. Marcuzzo, C. Pandini, E. Scarian, F. Dragoni, R. Di Gerlando, M. Bordoni, S. Parravicini, C. Gellera, R. Masson, C. Dosi, R. Zanin, O. Pansarasa, C. Cereda, A. Berardinelli, S. Gagliardi   +16 more
doaj   +1 more source

Spinal Muscular Atrophy after Nusinersen Therapy: Improved Physiology in Pediatric Patients with No Significant Change in Urine, Serum, and Liquor 1H-NMR Metabolomes in Comparison to an Age-Matched, Healthy Cohort

Metabolites, 2021
Spinal muscular atrophy (SMA) is a genetically heterogeneous group of rare neuromuscular diseases and was until recently the most common genetic cause of death in children.
Leon Deutsch, Damjan Osredkar, Janez Plavec, Blaž Stres   +3 more
doaj   +1 more source

Adult Survival in SMA Type 1: A 23‐Year Journey With Home Ventilation and Multidisciplinary Support

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Diffuse brain atrophy and calvarial hyperostosis in a long‐term survivor of very early onset SMA type 1. ABSTRACT Spinal muscular atrophy (SMA) type 1 is a severe autosomal recessive neuromuscular disorder caused by loss‐of‐function variants in the SMN1 gene, typically leading to death within the first two years without intervention. Long‐term survival
Antonio E. Camelo‐Filho, Renata Monteiro Jovino, Betina S. Tomaz, Paulo R. Nóbrega, Marcelo A. Holanda   +4 more
wiley   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Neuronal Pentraxin 2 as a Potential Biomarker for Nusinersen Therapy Response in Adults with Spinal Muscular Atrophy: A Pilot Study. [PDF]

Biomedicines
Background: The treatment landscape for spinal muscular atrophy (SMA) has changed significantly with the approval of gene-based therapies such as nusinersen for adults with SMA (pwSMA).
Neuhoff S, Schmitt LI, Liebig KC, Hezel S, Tilahun NI, Kleinschnitz C, Leo M, Hagenacker T.   +7 more
europepmc   +2 more sources

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

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

Examination of the Peripheral Nervous System in Children With Spinal Muscular Atrophy: A High‐Resolution Ultrasonographic Study

Brain and Behavior, Volume 16, Issue 2, February 2026.
This study aimed to analyze the structure and cross‐sectional area (CSA) of the median nerve in children with spinal muscular atrophy (SMA) and evaluate the usefulness of high‐resolution ultrasound (HRUS) imaging for the monitoring of peripheral nerves in these children.
Janina Wurster, Erin West, Sandro Meier, Noé Phillip Bürke, Lynn Jansen, Philip Julian Broser   +5 more
wiley   +1 more source