Results 91 to 100 of about 1,722 (231)

The Neurobiology of Childhood Spinal Muscular Atrophy

Neurobiology of Disease, 1996
Thomas O. Crawford, Carlos A. Pardo
openaire   +3 more sources

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

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

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

Bilateral Wrist Drop at Presentation in a Child with Spinal Muscular Atrophy Type I [PDF]

, 2014
N
Abdelrahim, Rana, Al-Futaisi, Amna, Al-Nabhani, Susan, Koul, Roshan   +3 more
core   +2 more sources

Bone health in adults with non‐ambulatory neuromuscular disorders: scoping review of risk factors, diagnosis and management

Internal Medicine Journal, EarlyView.
Abstract Background Non‐ambulatory adults have an increased risk of osteoporosis and fractures due to reduced weight‐bearing and diminished neuromuscular stimulation, resulting in substantial morbidity and mortality. Aims This scoping review aimed to systematically evaluate risk factors, diagnostic indicators and management strategies for optimising ...
Thomas Bailey, Carolyn Droste, John A. Eisman, Steven G. Faux, Arnagretta Hunter   +4 more
wiley   +1 more source

Spinal Muscular Atrophy of Childhood [PDF]

, 2020
openaire   +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

Editorial: Diagnosis of childhood spinal muscular atrophy. [PDF]

BMJ, 1973
openaire   +2 more sources

Novel mouse models for spinal muscular atrophy with respiratory distress type I : characterizing disease relevant models and evaluating therapeutic potential [PDF]

Spinal muscular atrophy with respiratory distress type I (SMARD1) is a rare neurodegenerative disease caused by loss-of-function mutations in the immunoglobulin µ-DNA binding protein 2 (IGHMBP2).
Smith, Caley Elizabeth
core   +1 more source