Results 61 to 70 of about 2,046 (140)

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

Onasemnogene abeparvovec preserves bulbar function in infants with presymptomatic spinal muscular atrophy: a post-hoc analysis of the SPR1NT trial [PDF]

, 2023
Bulbar function in spinal muscular atrophy has been defined as the ability to meet nutritional needs by mouth while maintaining airway protection and communicate verbally. The effects of disease-modifying treatment on bulbar function are not clear.
Baranello, G, Darras, BT, Hurst-Davis, R, LaMarca, N, Lavrov, A, McGrattan, KE, O'Brien, E, Reyna, SP, Shell, RD, Wallach, S, Young, SD   +10 more
core  

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

Longitudinal prospective cohort study to assess peripheral motor function with extensive electrophysiological techniques in patients with Spinal Muscular Atrophy (SMA): the SMA Motor Map protocol

BMC Neurology, 2023
Background Hereditary spinal muscular atrophy (SMA) is a motor neuron disorder with a wide range in severity in children and adults. Two therapies that alter splicing of the Survival Motor Neuron 2  (SMN2) gene, i.e.
Leandra A. A. Ros, H. Stephan Goedee, Hessel Franssen, Fay-Lynn Asselman, Bart Bartels, Inge Cuppen, Ruben P. A. van Eijk, Boudewijn T. H. M. Sleutjes, W. Ludo van der Pol, Renske I. Wadman   +9 more
doaj   +1 more source

New prospects for the treatment of Spinal Muscular Atrophy [PDF]

, 2019
Introduction: Spinal muscular atrophy (SMA) is one of the most common genetically determined causes of infant and young child death. The aim of the study: Review of medical literature on therapeutic strategies used in the treatment of SMA.
Boreński, Grzegorz, Milanowska, Joanna, Poleszak, Julita, Rejdak, Konrad, Szabat, Marta, Szabat, Przemysław, Wójcik, Magdalena   +6 more
core   +1 more source

Newborn screening for spinal muscular atrophy: Variations in practice and early management of infants with spinal muscular atrophy in the United States [PDF]

In the United States (U.S.), newborn screening (NBS) for spinal muscular atrophy (SMA) is implemented by individual states. There is likely variation in the practice patterns of state NBS programs and among the providers caring for newborns with SMA ...
Crockett, Cameron D, Goedeker, Natalie, Tabatabai, Grace, Wedge, Ethan, Zaidman, Craig M   +4 more
core   +2 more sources

Risdiplam Impact in Treatment Naïve and Non‐Naïve Pediatric and Adult Patients With Spinal Muscular Atrophy

European Journal of Neurology, Volume 33, Issue 4, April 2026.
This 36‐month prospective study of 34 symptomatic SMA patients (ages 6.9–50.9 years) found significant motor and quality of life improvements with risdiplam treatment. Treatment‐naïve patients showed notable gains in MFM‐32 and RULM scores, while those switching therapies improved in MFM‐32.
Pak On Patrick Yee, Hayley Hoi Ning Ip, Michael Kwan Leung Yu, Pui Kei Cheng, Wilfred Hing Sang Wong, Patrick Pak Hei Ng, Nathan Sheung Tat Kwong, Priscillia Lam, Mei Wun Cheung, Angel Tung, Stephen Chan, Shirley Ng, Wai Lan Yeung, Sheila Wong, Yuen Gao, Shirley Pang, Sophelia Hoi Shan Chan   +16 more
wiley   +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

Formation of Fused Ring Junction N-Heterocycles via Cp*Rh(III) Imidoyl C–H Activation and Application to RNA Targeting [PDF]

, 2022
Nitrogen heterocycles are present in almost two-thirds of U.S. FDA approved pharmaceuticals, garnering interest in the ability to rapidly access these structures displaying different functional groups.
Streit, Andrew Douglas
core   +1 more source

Effects of High‐ and Low‐Fat Meals on the Bioavailability and Pharmacokinetics of Votoplam, a HTT Gene Splicing Modifier

Clinical Pharmacology in Drug Development, Volume 15, Issue 3, March 2026.
Abstract Votoplam is a novel, orally bioavailable, small molecule HTT gene splicing modifier that is being developed for the treatment of Huntington's disease. This was a single dose, open‐label, two‐period, crossover food effect study that evaluated the effect of high‐ and low‐fat meals on 20 mg votoplam in healthy participants. There was a washout of
Lucy Lee, Amy‐Lee Richards, Nageswara Reddy, Brian Beers, Lee Golden, Ronald Kong   +5 more
wiley   +1 more source