Mindy Leffler
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View article: Development of the Angelman syndrome video assessment: quantifying meaningful change
Development of the Angelman syndrome video assessment: quantifying meaningful change Open
The ASVA was developed with insights from the AS community, including caregivers of individuals with AS, clinicians, and researchers. The ASVA is a novel, disease-specific, clinician-reported outcome measure that uses standardized video ca…
View article: Understanding dentatorubral-pallidoluysian atrophy (DRPLA) symptoms and impacts on daily life: a qualitative interview study with patients and caregivers
Understanding dentatorubral-pallidoluysian atrophy (DRPLA) symptoms and impacts on daily life: a qualitative interview study with patients and caregivers Open
Background: Dentatorubral–pallidoluysian atrophy (DRPLA) is a rare, neurodegenerative disorder with no disease-modifying treatments. There is a dearth of information in the literature about the patient and caregiver experience living with …
View article: Home‐based video assessment of ease of movement for patients with Duchenne: Interviews with physical therapists to select movement tasks
Home‐based video assessment of ease of movement for patients with Duchenne: Interviews with physical therapists to select movement tasks Open
Background and Purpose Patients with Duchenne muscular dystrophy (DMD) change their movement patterns to compensate for muscle weakness. The Duchenne Video Assessment (DVA) measures ease of movement through evaluation of compensatory movem…
View article: Development of Duchenne Video Assessment scorecards to evaluate ease of movement among those with Duchenne muscular dystrophy
Development of Duchenne Video Assessment scorecards to evaluate ease of movement among those with Duchenne muscular dystrophy Open
Background Patients with Duchenne muscular dystrophy (DMD) adopt compensatory movement patterns as muscles weaken. The Duchenne Video Assessment (DVA) measures patient ease of movement through identification of compensatory movement patter…
View article: Reliability and construct validity of the Duchenne Video Assessment
Reliability and construct validity of the Duchenne Video Assessment Open
Introduction The Duchenne Video Assessment (DVA) assesses quality of movement as an indication of Duchenne muscular dystrophy (DMD) disease severity. Caregivers video record patients performing home‐based movement tasks using a mobile appl…
View article: International Journal of Rare Diseases & Disorders
International Journal of Rare Diseases & Disorders Open
A Qualitative Methodology to Support the Evaluation of Novel Treatments for Hyperphagia in People with Prader-Willi Syndrome.Background: Assessing change in symptoms affecting people with Prader Willi Syndrome (PWS), a rare disease, is com…