Cargando…

Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy: First Workshop Report: Establishing Australian health system readiness for the implementation and evaluation of a pilot program in New South Wales and the Australian Capital Territory

A pilot newborn screening (NBS) program for Duchenne muscular dystrophy (DMD) study proposes to assess the feasibility of the screening procedure, temporal course of the various steps of screening, and the public acceptability of the program. This is particularly vital to ascertain as DMD is conside...

Descripción completa

Detalles Bibliográficos
Autores principales:	Farrar, Michelle A., Kariyawasam, Didu, Grattan, Sarah, Bayley, Klair, Davis, Mark, Holland, Sandra, Waddel, Leigh B., Jones, Kristi, Lorentzos, Michelle, Ravine, Anja, Wotton, Tiffany, Wiley, Veronica
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	IOS Press 2023
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9881031/ https://www.ncbi.nlm.nih.gov/pubmed/36373292 http://dx.doi.org/10.3233/JND-221535

Ejemplares similares

Incidence of Duchenne muscular dystrophy in the modern era; an Australian study
por: Kariyawasam, Didu, et al.
Publicado: (2022)

Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme
por: D'Silva, Arlene M, et al.
Publicado: (2021)

Food Habits of Older Australians Living Alone in the Australian Capital Territory
por: Low, Elizabeth, et al.
Publicado: (2020)

Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy
por: D'Silva, Arlene M., et al.
Publicado: (2022)

Self-harm and suicidal behaviour among incarcerated adults in the Australian Capital Territory
por: Butler, Amanda, et al.
Publicado: (2018)

Physical and Mental Health Effects of Bushfire and Smoke in the Australian Capital Territory 2019–20
por: Rodney, Rachael M., et al.
Publicado: (2021)

Nutrition and Healthy Ageing Trajectories in Retirement Living in the Australian Capital Territory: Study Protocol
por: D'Cunha, Nathan, et al.
Publicado: (2021)

mRNA COVID-19 Vaccine Related Myocarditis and Pericarditis in the Australian Capital Territory
por: O'Driscoll, R., et al.
Publicado: (2022)

The prevalence of overuse injuries in Australian non-elite netballers
por: Bissell, Lianne, et al.
Publicado: (2018)

SARS-CoV-2 IgM testing for travellers: a private pathology perspective from New South Wales and the Australian Capital Territory, Australia
por: Wehrhahn, Michael C., et al.
Publicado: (2022)

A Survey of Veterinarian Attitudes Toward Prepubertal Desexing of Dogs and Cats in the Australian Capital Territory
por: Orr, Bronwyn, et al.
Publicado: (2019)

Job Satisfaction of Health Practitioners Providing Outreach Health Services during COVID-19 in Rural New South Wales (NSW) and the Australian Capital Territory (ACT), Australia
por: Islam, Md Irteja, et al.
Publicado: (2022)

“We needed this”: perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy
por: Kariyawasam, Didu S.T., et al.
Publicado: (2021)

Bacteraemia, antimicrobial susceptibility and treatment among Campylobacter-associated hospitalisations in the Australian Capital Territory: a review
por: Moffatt, Cameron R. M., et al.
Publicado: (2021)

Spatial Analysis of the Neighborhood Risk Factors for Respiratory Health in the Australian Capital Territory (ACT): Implications for Emergency Planning
por: Davies, Sarah, et al.
Publicado: (2020)

Trends in overweight and obesity by socioeconomic status in Year 6 school children, Australian Capital Territory, 2006–2018
por: Yang, Zongjian, et al.
Publicado: (2019)

Biomarkers and the Development of a Personalized Medicine Approach in Spinal Muscular Atrophy
por: Kariyawasam, Didu S. T., et al.
Publicado: (2019)

Identification of Novel CSF-Derived miRNAs in Treated Paediatric Onset Spinal Muscular Atrophy: An Exploratory Study
por: D’Silva, Arlene M., et al.
Publicado: (2023)

Public health interventions successfully mitigated multiple incursions of SARS-CoV-2 Delta variant in the Australian Capital Territory
por: Hall, Robyn N, et al.
Publicado: (2023)

‘Advocacy groups are the connectors’: Experiences and contributions of rare disease patient organization leaders in advanced neurotherapeutics
por: Nguyen, Christina Q., et al.
Publicado: (2022)

The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers
por: Davidson, Joanne E, et al.
Publicado: (2023)

Kidney disease in Aboriginal Australians: a perspective from the Northern Territory
por: Hoy, Wendy E.
Publicado: (2014)

A new bottom-up method for the standard analysis and comparison of workforce capacity in mental healthcare planning: Demonstration study in the Australian Capital Territory
por: Furst, Mary Anne, et al.
Publicado: (2021)

Understanding the ongoing learning needs of Australian paediatricians: Evaluation of a pilot paediatric video teaching programme
por: Le Marne, Fleur A, et al.
Publicado: (2022)

Antibiotic use for Australian Aboriginal children in three remote Northern Territory communities
por: Howarth, Timothy, et al.
Publicado: (2020)

Motor unit changes in children with symptomatic spinal muscular atrophy treated with nusinersen
por: Kariyawasam, Didu, et al.
Publicado: (2021)

Gene therapy-based strategies for spinal muscular atrophy—an Asia-Pacific perspective
por: Farrar, Michelle A., et al.
Publicado: (2023)

Correction: Antibiotic use for Australian Aboriginal children in three remote Northern Territory communities
por: Howarth, Timothy, et al.
Publicado: (2020)

Australia's regional innovation systems: inter-industry interaction in innovative activities in three Australian territories
por: Schütz, Marlies H.
Publicado: (2017)

Accessibility of cancer treatment services for Indigenous Australians in the Northern Territory: perspectives of patients and care providers
por: Anderson, Kate, et al.
Publicado: (2021)

P053 Acceptability, Adaptability and Adherence to Continuous Positive Airway Pressure Therapy among Aboriginal Australians - The “A5” Top End Northern Territory Australian Study
por: Howarth, T, et al.
Publicado: (2022)

Measuring What Matters: Little Evidence Supporting the Content Validity of EQ-5D in People with Duchenne Muscular Dystrophy and Their Caregivers
por: Powell, Philip A., et al.
Publicado: (2021)

Core Temperature Responses in Elite Cricket Players during Australian Summer Conditions
por: Stay, Sharon, et al.
Publicado: (2018)

Transforming Cancer Survivorship Care: An Australian Experience
por: Kinnane, Nicole A., et al.
Publicado: (2017)

Investigating the relationships between social capital, chronic health conditions and health status among Australian adults: findings from an Australian national cohort survey
por: Lee, Jeong Kyu, et al.
Publicado: (2020)

Financial, opportunity and psychosocial costs of spinal muscular atrophy: an exploratory qualitative analysis of Australian carer perspectives
por: Farrar, Michelle A, et al.
Publicado: (2018)

Charitable Food Systems’ Capacity to Address Food Insecurity: An Australian Capital City Audit
por: Pollard, Christina M., et al.
Publicado: (2018)

OLDER AUSTRALIAN WOMEN’S HUMAN CAPITAL: PERCEPTIONS OF SKILL LEVELS AND PARTICIPATION IN LEARNING ACTIVITIES
por: Taylor, Philip
Publicado: (2019)

Prevalence and validity of self-reported smoking in Indigenous and non-Indigenous young adults in the Australian Northern Territory
por: Pearce, Mark S, et al.
Publicado: (2014)

Beverage intake and obesity in Australian children
por: Clifton, Peter M, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_eersbo078fdbl655f64e5urkl1