Results 41 to 50 of about 3,596 (160)

Rethinking Delivery Timing in Prenatally Diagnosed Spinal Muscular Atrophy: A Case Report With 2‐Year Follow‐Up

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective We describe the clinical course and outcome of a prenatally diagnosed infant with spinal muscular atrophy (SMA) treated immediately after early‐term birth and highlight considerations regarding delivery timing and neonatal management. Methods This male infant had a family history of SMA type 1A.
Emilie Groulx‐Boivin, Olivier Fortin, Simon Thebault, Unain Ansari, Victoria Nixon, Ariane Belzile, Richard Brown, Jarred Garfinkle, Maryam Oskoui   +8 more
wiley   +1 more source

Routine Cerebrospinal Fluid Cytology Reveals Unique Inclusions in Macrophages During Treatment With Nusinersen

Frontiers in Neurology, 2019
Background: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder characterized by degeneration of spinal motor neurons leading to muscular weakness.
Stefan Gingele, Martin W. Hümmert, Sascha Alvermann, Konstantin F. Jendretzky, Lena Bönig, Marina Brieskorn, Philipp Schwenkenbecher, Kurt-Wolfram Sühs, Lars H. Müschen, Alma Osmanovic, Olivia Schreiber-Katz, Martin Stangel, Susanne Petri, Thomas Skripuletz   +13 more
doaj   +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

Disease‐specific body composition patterns in children with cerebral palsy and spinal muscular atrophy

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Spinal muscular atrophy (SMA) and cerebral palsy (CP) are severe neurological conditions characterized by neurodegeneration and non‐progressive brain injury, respectively, both profoundly affecting the nutritional status in children.
Giulia Fiore, Sara Vizzuso, Ramona De Amicis, Barbara Borsani, Mireia Escudero‐Marín, Alessandra Mari, Francesca Destro, Hatim Azaryah, Chiara Mastella, Anna Mandelli, Laura Stabilini, Alessandra Bosetti, Francesca Izzo, Elena Zoia, Eleonora Bonaventura, Lorenzo Norsa, Davide Tonduti, Gloria Pelizzo, Cristina Campoy, Simona Bertoli, Gianvincenzo Zuccotti, Elvira Verduci   +21 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

Challenges in Gene‐Directed Therapies for Rare Neurodevelopmental Disorders Using HNRNPU as an Exemplar

Clinical Genetics, EarlyView.
Beyond diagnosing rare neurodevelopmental disorders like HNRNPU‐RNDD, developing gene‐directed therapies requires overcoming complex hurdles, including spatial, developmental, and cell‐type constraints. Addressing these requires understanding the molecular effects of dosage and chromatin dynamics to deliver precise, effective treatments.
Daniel Aiyedun, Susan F. Rogers, Doaa M. Taha, Meena Balasubramanian   +3 more
wiley   +1 more source

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

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

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

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