#apaperaday: Development and Pilot Validation of the DuMAND Checklist to Screen for Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties (DuMAND)

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled:  Development and Pilot Validation of the DuMAND Checklist to Screen for Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties (DuMAND)

Today’s pick is from @journal_nd by Geuens et al on the Duchenne muscular dystrophy associated neurobehavioral difficulties (DuMAND) checklist. Disclosure: I was the associate editor handling this but have relied fully on expert reviewers. DOI: 10.3233/JND-240012

Duchenne is caused by lack of dystrophin protein. This leads to skeletal muscle breakdown, heart pathology but as dystrophin isoforms are also expressed in brain, in many patients it also leads to neurodevelopmental and brain functioning problems, such as learning difficulties.

Also behavioral diseases like ADHD, ADD, OCD and anxiety disorder are more common in Duchenne. However, pathology is very heterogeneous and combined with loss of motor function, and thus standard checklists like DSM-5 often do not work well.

Still authors feel it is important to recognize neurodevelopmental issues, so they were inspired by other efforts to set up disease specific scales for this (e.g. for HIV and tuberous sclerosis). Making the DUMAND scale was a 5 step reiterative process:

They started with a literature search, mostly involving only Duchenne, & some Duchenne & Becker (agreed to include these also, as Becker is also a dystrophinopathy and while Becker patients have partially functional full length dystrophins they can miss shorter dystrophins)

From these they distilled often mentioned neurodevelopmental problems such as learning difficulties, less working memory and problems with executive functioning. Then authors did surveys with parents of Belgium Duchenne patients aged 6-18, 48 mothers and 37 fathers answered

Then they did a survey with 28 Duchenne expert health care professionals from 16 countries. Based on these efforts, authors then conceptualized DuMAND, sorted items in different categories and checked them with an expert panel. DuMAND was then agreed and refined.

Then it was shared with a group of 20 parents NOT involved with the first survey. They all said the DUMAND checklist was easy to understand and it took 4-11 minutes for them to fill it out. Checklist can be found here: https://content.iospress.com/articles/journal-of-neuromuscular-diseases/jnd240012#jnd–1-jnd240012-t004

The checklist involves 5 aspects: cognition and learning, social responsiveness, emotion regulation, externalizing behaviour and eating and sleeping. Authors discuss that the first 4 aspects have an impact on patient quality of life, but also his environment.

E.g. aggressive externalizing behaviour will impact the environment as well as the patient. Eating and sleeping may seem the odd ones out, but authors discuss that disruption of eating and sleeping disrupts life and quality of life significantly

More work is needed to further validate the checklist, e.g. checking with parents and patients beyond Belgium and checking the impact of different steroid types and regimes on behavior. However, authors stress the checklist can already be used to identify neurodevelopment issues.

This is important, because many aspects are actionable: help with education, or specific learning techniques, parents can get guidance on coping with behaviour, medication can be prescribed for some of the disorders. So great work and looking forward to updates!