Prof. Annemieke Aartsma-Rus is taking on a challenge by reading and commenting on a paper a day. She shares her insights, findings and thoughts via her @oligogirl Twitter account. See below the overview of June 2022.
Prof. Aartsma-Rus reads and comments on the paper titled: Evaluating the Feasibility and Reliability of Remotely Delivering and Scoring the North Star Ambulatory Assessment in Ambulant Patients with Duchenne Muscular Dystrophy.
#apaperaday Today’s pick is from @MDPIOpenAccess Children on performing the NSAA at home for children with Duchenne. Work from Emery et al who did a pilot in the UK during the pandemic. Doi 10.3390/children9050728
Ambulatory Duchenne patients should be monitored every 6 months with the north star ambulatory assessment (NSAA) scale to assess disease progression and e.g. anticipate functional loss. The scale involves 17 items such as run, hop, jump and stand on one leg.
Patients can score 0-2 for each item: 0 cannot perform item, 1 can perform with help/adaptation and 2 can perform normal. On average patients decline 2.2 points per year. During the pandemic patients were not able to go to hospital for NSAA assessment.
Here authors assessed if it was possible to do NSAA assessment at home where physiotherapists monitored, instructed and scored & parents prepared everything (steps, 10 meter run etc).10 patients for whom previous NSAA assessments from hospital visits were available were included.
Prof. Dr. Annemieke Aartsma-Rus is a professor of Translational Genetics at the Department of Human Genetics of the Leiden University Medical Center. Since 2013 she has a visiting professorship at the Institute of Genetic Medicine of Newcastle University (UK).
Her work currently focuses on developing antisense-mediated exon skipping as a therapy for Duchenne muscular dystrophy. In addition, in collaborative efforts she aims to bridge the gap between different stakeholders (patients, academics, regulators and industry) involved in drug development for rare diseases.
In 2013 she was elected a member of the junior section of the Dutch Royal Academy of Sciences (KNAW), which consists of what are considered the top 50 scientists in the Netherlands under 45. From 2015 to 2022, she was selected as the most influential scientist in Duchenne muscular dystrophy by Expertscape.