As reported in Charcot Marie Tooth News
; researchers have devised a new measure of quality of life for youth with Charcot-Marie-Tooth disease. While of course, researchers could assess the youth’s wellbeing on traditional quality of life (QOL) measures, they wanted this to be disease specific in order to determine which domain’s of the person’s life are most impacted by their health situation. By determining how and in what ways CMT is effecting the everyday experiences of these children, the tool is not only more precise for trials, but doctors also can determine the most appropriate treatments and make decisions based on what would make the most tangible impact on the child’s experience.
is a rare neurological disorder that causes muscle weakness. Albeit rare, CMT is one of the most commonly inherited neurological diseases. The various mutations associated with CMT all cause peripheral nerves to slowly die off, damaging the muscles ability to communicate. Most patients begin to notice symptoms in adolescence, though some develop later. First, it is felt in the form of weakness in the feat, high arches or hammertoes, and frequent tripping. Over time, symptoms gradually worsen, with some people loss of muscle progressing to the point of foot and leg deformities, muscle atrophy in the hands, difficulty with fine motor skills, and trouble walking. Many patients attend physical and occupational therapies, utilize orthopedic devices, or undergo surgery. There is no cure.
The New Quality Of Life Measure
Why make an entirely new measure? Doctors need to know how what they’re doing is impacting their patients in order to assess their approach. The researchers explained,
“Our goal was not to merely show that QOL is impaired in CMT, but rather to systematically determine and quantify the factors that contribute to reduced QOL in children with CMT.”
The Method’s Method
To create the new measure, a group of researchers from across the U.K., U.S. and Australia identified the six main domains of life contributing to the quality of life for children with CMT. These domains grouped like physical and social impediments. This included one category grouping physical complaints— aches, pains, illness, fatigue, and more. Another category considers physical symptoms preventing participation in the full range of daily activities, and a social category that consider the person’s emotional and psychological wellness, inquiring about their relationship with stress, fear, shame, depression, self-esteem, cognitive issues, and connecting to others.
Their new index consisted of 60 questions, with 10 questions per category. A draft was first given to a pilot group of 31 children ages 4 to 17 and was reviewed by 21 researchers which guided how they then constructed this study. As a result, they chose to only use participants over age 8 because the younger kids struggled to comprehend the questions. They also simplified the question format and clarified any language confusion in an attempt to produce the most valid and consistent results.
These questions were then asked periodically over five years to 398 children with CMT, from ages 8 to 18, and across nine countries. The scientists then searched for patterns among the scores based on different distinctions including gender and disease severity and subtype.
They found that the females and people with more severe manifestations were more burdened by the physical measures, including physical pains and lost mobility. However, they found no distinction based on mental wellness between any of the variables. The also found no patterns involving age or disease subtype, implying these factors are irrelevant when it comes to how their health is impacting their holistic wellbeing.
The newly approved measure will go on to be used for those patients’ relevant clinical settings as well as clinical trials, and as part of assessing the trial’s outcomes. The researchers conclude, “The disease-specific pCMT-QOL PRO measure thus has important distinctions and advantages from generic QOL outcome measures; it includes items pertinent to pediatric CMT patients.”
By identifying which ripple effects of the disease hit the hardest, the treatment community can focus on alleviating what they can. Now, CMT doctors will have one more tool in the toolkit.