Results 201 to 210 of about 77,164 (290)

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

Electrophysiological Changes in Pediatric Spinal Muscular Atrophy: Results From an Observational Study. [PDF]

Muscle Nerve
Sun R, Wang J, Han J, Jiang J, Wu J, Chen X, Deng X, Cai C, Sun D.   +8 more
europepmc   +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

Safety and efficacy of intravenous onasemnogene abeparvovec gene therapy in patients with spinal muscular atrophy type 1: interim analysis from LT-001, a long-term follow-up study of patients from the START study. [PDF]

EClinicalMedicine
Waldrop MA, Escudero RB, Yang L, Camarata RA, Branic EC, Mehl L, Ilić A, Connolly AM.   +7 more
europepmc   +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

International Survey on Genetic Literacy and Awareness in Patients With Spinal and Bulbar Muscular Atrophy. [PDF]

Neurol Genet
Yamada S, Hashizume A, Ito D, Kishimoto Y, Komori S, Kawase T, Kondo A, Kiya Y, Nakatsuji H, Suzuki Y, Tako Y, Hamada Y, Slowe K, Thompson KA, Thompson T, Katsuno M.   +15 more
europepmc   +1 more source

Performance outcomes of the PEDI‐CAT for assessing functional ability in the population with leukodystrophy

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To describe the use of the Pediatric Evaluation of Disability Index‐Computer Adapted Test (PEDI‐CAT), a parent‐reported outcome, and determine functional performance in a cohort with leukodystrophy. Method This was a cross‐sectional observational study.
Stacy V. Cusack, Allan M. Glanzman, Francesco Gavazzi, Sarah Woidill, Abbas F. Jawad, Timothy Estilow, Amy T. Waldman, Adeline Vanderver, Laura Adang, Children's Hospital of Philadelphia Leukodystrophy Workgroup, Todd Levy, Michelle Fitzgerald, Ann T. Harrington, Emma McKenzie, Elizabeth Balance, Tracy Kornafel, Kaleb Kelley, Peter Hong, Sarah Pham, Aaliyah White, Miriam Lerner   +20 more
wiley   +1 more source

Electroacupuncture and category IV LASER for treating suprascapular neuropathy in a two‐year‐old Arabian filly

Equine Veterinary Education, EarlyView.
Summary A 2‐year‐old Arabian filly presented with acute onset grade 4/5 (AAEP) right forelimb lameness and hindlimb ataxia following a collision with another horse and subsequent fall. The right forelimb lameness was associated with marked scapulohumeral joint instability.
O. E. Newman, B. Dunkel, M. Perrier
wiley   +1 more source

Bone Fragility and Fracture Characteristics in Patients With Spinal and Bulbar Muscular Atrophy. [PDF]

Eur J Neurol
Kawase T, Yamada S, Kishimoto Y, Ito D, Komori S, Kondo A, Iida M, Kawashima I, Takegami Y, Hashizume A, Imagama S, Katsuno M.   +11 more
europepmc   +1 more source

Technologies for equine welfare and performance monitoring under field conditions – Where do we stand?

Equine Veterinary Journal, EarlyView.
Abstract The need for comprehensive equine welfare assessments has become particularly evident amid ongoing debates about the social licence to operate in equestrian sports. During exercise, multiple physiological systems, principally the cardiovascular, respiratory, muscular, thermoregulatory, endocrine, and locomotory systems, undergo complex ...
Rhana Mackie Aarts, Esther W. Siegers, Filipe M. Serra Braganca, P. René van Weeren   +3 more
wiley   +1 more source