Publications by authors named "Daniella Villano"

Article Synopsis
  • Young people with Duchenne muscular dystrophy (DMD) are at a higher risk for obesity, and this study aimed to explore a weight management program tailored for them and their families.
  • The Supporting Nutrition and Optimizing Wellbeing Program (SNOW-P) was a 6-week intervention conducted via telehealth, focusing on diet and behavior, and involved feedback from caregivers to shape its structure.
  • Results showed high participation and satisfaction, indicating feasibility and acceptability, but suggested improvements like the need for better online resources and a more accurate way to track weight and dietary habits.
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Article Synopsis
  • The study investigates the challenges and perceptions caregivers face regarding nutrition and weight management for children with Duchenne muscular dystrophy (DMD), given that obesity can worsen health outcomes for these kids.
  • Researchers surveyed 53 caregivers across Australian clinics, revealing that nearly half believed their child was overweight, with over half citing issues like self-esteem and movement difficulties related to weight.
  • Caregivers expressed a desire for a structured, intensive six-week weight management program that would focus on appetite control and reducing screen time but identified barriers such as time constraints and a lack of nutrition knowledge.
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Background: ATL1102 is a 2'MOE gapmer antisense oligonucleotide to the CD49d alpha subunit of VLA-4, inhibiting expression of CD49d on lymphocytes, reducing survival, activation and migration to sites of inflammation. Children with DMD have dystrophin deficient muscles susceptible to contraction induced injury, which triggers the immune system, exacerbating muscle damage. CD49d is a biomarker of disease severity in DMD, with increased numbers of high CD49d expressing T cells correlating with more severe and progressive weakess, despite corticosteroid treatment.

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Article Synopsis
  • The study focused on how the COVID-19 pandemic led to a shift from in-person appointments to telehealth (TH) in a neuromuscular clinic, exploring perceptions of TH from parents, children, and clinicians, and aiming to create a future care model.
  • Data from a clinical audit and surveys revealed that while 62.8% of appointments were via TH in 2020, all groups preferred in-person interactions, though many parents recognized TH advantages, including reduced stress.
  • The study concluded by creating a checklist for future hybrid care combining TH and in-person visits while emphasizing the need for more research on TH's health impacts in pediatric neuromuscular treatment.
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Background: Spinal muscular atrophy (SMA) is a devastating motor neuron disorder causing progressive muscle weakness and respiratory insufficiency. We present the initial Australian experiences implementing the expanded access programme (EAP) to enable preapproval access to nusinersen, the first disease-modifying therapy, for SMA type 1.

Methods: An Australian multicentre, open-label EAP for nusinersen enrolled patients with infantile-onset SMA type 1 from November 2016 to September 2017.

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