Publications by authors named "Katy de Valle"
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.
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.
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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- Symptoms and severity of facioscapulohumeral muscular dystrophy (FSHD) can vary widely, making it essential to have reliable methods for assessing disease progression.
- A study involving eleven pediatric patients used whole body muscle MRI to analyze muscle conditions like atrophy and fat replacement, finding strong correlations with functional outcome measures.
- The research suggests using semi-quantitative visual scores from MRI as a reliable way to gauge disease severity in children with FSHD, especially focusing on atrophy and fat replacement rather than muscle edema.
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.
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry
May 2022
Article Synopsis
- - Charcot-Marie-Tooth disease (CMT) is a common inherited neuropathy mainly affecting children, and there's a lack of standardized management guidelines for treatment.
- - The Paediatric CMT Best Practice Guidelines Consortium developed evidence-based and consensus-based recommendations involving systematic reviews and international clinician input to address care strategies for managing various symptoms of CMT in children and adolescents.
- - The final guidelines consist of 34 recommendations covering different management areas and emphasize the importance of multidisciplinary care, highlighting the need for further research due to some areas lacking consensus among clinicians.
Aim: Few studies have characterised the relationship between disease and gait function in children and young people with rare neuromuscular disorders (NMDs). This study aimed to describe the relationship between disease and gait in a large paediatric cohort from a neuromuscular outpatient clinic.
Methods: A prospective, cross-sectional study of gait in independently ambulant children and young people aged 4-21 years with a clinical or genetically confirmed NMD.
Purpose: We explored the effects of standardized calf massage in ambulant boys with Duchenne muscular dystrophy (DMD) using a prospective study design.
Materials And Methods: Twenty boys completed two study visits, 1 week apart. At both visits, each leg received a 10-min calf massage (intervention) and a 10-min control rest period (placebo) in randomized order.
Introduction: The nerve sonographic features of Dejerine-Sottas disease (DSD) have not previously been described.
Methods: This exploratory cross-sectional, matched, case-control study investigated differences in nerve cross-sectional area (CSA) in children with DSD compared to healthy controls and children with Charcot-Marie-Tooth disease type 1A (CMT1A). CSA of the median, ulnar, tibial, and sural nerves was measured by peripheral nerve ultrasound.
Objectives: To investigate motor function associations with age, sex, and repeats among participants with early-onset facioscapulohumeral muscular dystrophy (FSHD) type 1 as defined by weakness onset before 10 years of age.
Methods: We collected standardized motor assessments, including manual muscle testing (MMT), quantitative muscle testing, functional motor evaluations, and clinical severity scores (CSSs), at 12 Cooperative International Neuromuscular Research Group centers. To measure associations, we used linear regression models adjusted for sex, evaluation age, age at onset of weakness, and repeats.
Evaluation of Serial Casting for Boys with Duchenne Muscular Dystrophy: A Case Report.
Phys Occup Ther Pediatr
February 2018
Aim: To report the effects of below-knee serial casting in two boys with Duchenne muscular dystrophy who presented with well-preserved strength and calf shortening.
Methods: Bilateral below-knee serial casts were applied over two weeks with follow-up of daily stretching and wearing of customized night splints. Outcome measures were performed at baseline, 1, 3, 6, and 12 months post-casting.
Purpose: To record the use and perceived benefits of mainstream allied health services, complementary therapies, nutritional supplements and structured physical activity in a paediatric population of males with Duchenne or Becker muscular dystrophy.
Method: A questionnaire was distributed to 125 parents of males with a dystrophinopathy within a tertiary neuromuscular clinic population in Melbourne, Australia.
Results: Response rate to the survey was 41%.
Objective: To investigate differences in nerve cross-sectional area (CSA) as measured by peripheral nerve ultrasound in children with Charcot-Marie-Tooth disease type 1A (CMT1A) compared to healthy controls.
Methods: This was a cross-sectional, matched, case-control study. CSA of the median, ulnar, tibial, and sural nerves was measured by peripheral nerve ultrasound.
Clinimetric properties of the alberta infant motor scale in infants born preterm.
Pediatr Phys Ther
December 2010
Purpose: The Alberta Infant Motor Scale (AIMS) is a standardized motor assessment for young infants. This study aimed to examine the reliability of the AIMS in a group of infants born at or before 29 weeks of gestation.
Methods: Fifty-nine infants born preterm were recruited.