Motor Outcomes to Validate Evaluations in Pediatric FSHD (MOVE Peds)

Pediatric FSHD-COM

Investigators will collect the FSH-Composite outcome measure for children and adolescents. This measure assesses multiple body regions identified as important by patients, including leg function, shoulder and arm function, trunk function, hand function, and functional balance. The FSHD-COM Peds has been modified to include lighter weights for shoulder abduction and flexion, as well as elbow flexion, to accommodate the motor development and lower strength levels seen in children. Although the FSHD-COM Peds involves different measurements for each body region, these measurements are combined to produce a single composite score. The total score for the FSHD-COM Peds is out of 84, representing one comprehensive outcome measure

Reachable Work Space

Subjects are seated in front of a stereo-camera and perform a standardized upper extremity movement protocol under the supervision of a study clinical evaluator. Five-hundred-gram wrist weights will be added. The standardized simple set of movements consist of lifting the arm from the resting position to above the head while keeping the elbow extended, performing the same movement in vertical planes at around 0, 45, 90, 135 degrees. The second set of movements consists of horizontal sweeps at the level of the umbilicus and shoulder.

Quantitative MRI (qMRI) Fat Fraction %

quantitative MRI measurements are considered gold standard for lean muscle volume measurement and disease biomarkers (fat volumes, fat faction, and STIR+ presence) that may be modulated by treatment. Muscle fat replacement and free-water hyperintensity indicate early disease changes before functional performance is affected. Muscles with an intermediate fat fraction (10-55%) predict disease progression over 1-2 years. Investigators will use a whole-body MRI and will find the fat fraction % in pediatric subjects and compare these measurements with other factors to create a composite score over a two-year period

Quantitative MRI (qMRI) Lean Muscle Volume (mL)

Quantitative MRI measurements are considered the gold standard for assessing lean muscle volume and disease biomarkers (fat volumes vs. lean muscle volumes and STIR+ presence) that may be modulated by treatment. Muscle fat replacement and free-water hyperintensity indicate early disease changes before functional performance is affected. Muscles with low lean muscle volume and an intermediate fat fraction (10-55%) predict disease progression over 1-2 years. Investigators will use whole-body MRI to measure lean muscle volume (mL) in pediatric subjects and compare these measurements with other factors to create a composite score over a two-year period.

Quantitative MRI (qMRI) Total Volume

Quantitative MRI measurements are considered the gold standard for assessing lean muscle volume and disease biomarkers (fat volumes, fat fraction and STIR+ presence) that may be modulated by treatment. The use of MRI has shown as a technique to predict disease progression. Investigators will use whole-body MRI to measure total volume (mL) in pediatric subjects and compare these measurements with other factors to create a composite score over a two-year period. This refers to the overall volume of a specific tissue or organ measured in milliliters (mL) using MRI.

Quantitative MRI (qMRI) STIR+ ( %)

Quantitative MRI measurements are considered the gold standard for assessing lean muscle volume and disease biomarkers, such as the percentage of lean muscle volume with Short Tau Inversion Recovery (STIR) enhancement. STIR MRI helps predict disease progression by highlighting areas of inflammation and edema within muscle tissue. This provides valuable insights into underlying disease processes, aiding in the prediction of progression and guiding treatment decisions. Investigators will use whole-body MRI to measure STIR positivity, indicating inflammation and edema, in pediatric subjects. These measurements will be compared with other factors to create a composite score over a two-year period.

PROMIS Pediatric physical activity questionnaire (8 questions)

an instrument developed by the NIH PROMIS initiative. It generates scores for physical function and the impact of physical limitations on daily life. Participants will answer questions about how often they engage in physical activity, ranging from 0 days to 6-7 days per week. Higher scores indicate greater levels of physical activity.

Neuro Qol Fatigue Scale

assess the impact of fatigue on individuals with neurological conditions, measuring their severity, frequency, and effects on daily activities and quality of life using a 5- point rating system (1 being never and 5 being always).

The Facial Disability Index (FDI) physical score

is a 5-item questionnaire which assesses the physical impact of facial weakness. The responses (graded 1-5, 5 being no difficulty and 1 being unable to do) are summed to create a total score, which is then converted into a percentage scale. A score of 100% represents normal function, while lower scores indicate increasing levels of disability.

ACTIVLIM

measures how well people with neuromuscular disorders can perform daily activities. It includes 22 questions about tasks such as dressing, bathing, and walking, with difficulty rated as impossible, difficult, or easy.