Children on performing the NSAA at home for children with Duchenne


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.

All patients were on steroids. Age range: 4 years 9 months to 17 years and 3 months. Assessment worked quite well. Pixilation did not prevent physiotherapists from scoring. The main challenges were that some items (e.g. stand on heel) were difficult to assess when done on carpet
Furthermore, for some items it is allowed to give help for balance only. It was difficult to assess the extent of help by the physiotherapist when parents had to help. Nevertheless, scoring worked well and took 15-20 minutes per online assessment.
2 physiotherapists independently scored each online visit – scoring was very similar (interrater reliability 0.98). Patients were assessed multiple times during the pandemic just like they would with regular hospital visits. The decline was 2 points per year.
The study shows it is feasible to do the NSAA from home. Authors discuss that families were very cooperative and resourceful to find e.g. steps of exactly 150 mm using books or other material. There was no control over flooring & carpets made it difficult to assess stand on heel
There was some lag, which made timed assessments (e.g. 10 meter run) challenging, but this was doable when measuring time the patients started moving to when he reached 10 meter. Compared to previous in hospital assessments scores were lower – likely due to disease progression.
Authors indicate that addition study with more patients is needed as this was only a pilot. They also mention that now a comparison with assessment in hospital is possible. More work is needed but it is good to see that this assessment is at least feasibly.AnnemiekeAartsma-Rus
authors finally mention that the online assessment works especially well when the families are already well known to the clinicians and physiotherapists and also mention that the parents really appreciated that the monitoring could continue from home.

About Professor Annemieke Aartsma-Rus

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.

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