Results 81 to 90 of about 2,700 (197)

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

CASE REPORT: Liver Failure in a 4-month-old male with SMA type 2 after gene therapy/Onasemnogene abeparvovec (Zolgensma) [PDF]

, 2023
Introduction: Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration of the anterior horn cells in the spinal cord and the brain stem nuclei. The onset of weakness ranges from before birth to
Hager, Juliana, Paul, Dustin J.
core   +1 more source

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

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

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

Electrophysiological Changes in Pediatric Spinal Muscular Atrophy: Results From an Observational Study

Muscle &Nerve, Volume 73, Issue 5, Page 755-764, May 2026.
ABSTRACT Introduction/Aims Previous studies of children with spinal muscular atrophy (SMA) have focused on the ulnar and median nerves, while lower‐limb and proximal motor nerves remain insufficiently characterized. This study aimed to evaluate compound muscle action potential (CMAP) amplitudes in upper‐ and lower‐limb motor nerves in children with SMA
Ruidi Sun, Jing Wang, Jie Han, Jun Jiang, Jiajun Wu, Xue Chen, Xiaolong Deng, Chunquan Cai, Dan Sun   +8 more
wiley   +1 more source

Expressive language and social communication abilities in children with spinal muscular atrophy type 1

Developmental Medicine &Child Neurology, Volume 68, Issue 5, Page 696-705, May 2026.
Abstract Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (
Chiara Brusa, Bianca Buchignani, Chiara Cutri, Giorgia Coratti, Elaine Clark, Emily Johnson, Nikki Cornell, Mariacristina Scoto, Marika Pane, Eugenio Maria Mercuri, Francesco Muntoni, Giovanni Baranello, The Language and Social Communication in SMA working group, Harriet Weststrate, Emily Barritt, Laura Antonaci, Daniela Leone, Concetta Palermo, Pinki Munot, Adnan Manzur   +19 more
wiley   +1 more source

Onasemnogene Abeparvovec (Zolgensma)

Canadian Journal of Health Technologies, 2021
In the March 2021, the CADTH Canadian Drug Expert Committee recommended that onasemnogene abeparvovec be reimbursed for the treatment of pediatric patients with 5q spinal muscular atrophy (SMA) with biallelic mutations in the survival motor neuron 1 (SMN1) gene, if certain conditions were met.
openaire   +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

Economic evaluations of disease-modifying therapies for spinal muscular atrophy:a systematic literature review [PDF]

BackgroundSpinal muscular atrophy (SMA) is a rare, life-limiting neuromuscular disorder characterised by progressive motor neuron degeneration. The recent emergence of disease-modifying therapies (DMTs), nusinersen, onasemnogene abeparvovec, and ...
Auguste, Peter, Brown, Anna, Butt, Furqan, Donoghue, Jeremiah, Grove, Amy, Mehrabian, Amin, Parr, Janette, Parsons, Jo, Patel, Mubarak, Yousefi, Mehdi   +9 more
core   +1 more source