Therapeutic trials in Duchenne Muscular dystrophy (DMD) exclude young boys because traditional outcome measures rely on cooperation. The Bayley-III Scales of Infant and Toddler Development (Bayley-III) have been validated in developing children and those with developmental disorders but have not been studied in DMD. Expanded Hammersmith Functional Motor Scale (HFMSE) and North Star Ambulatory Assessment (NSAA) may also be useful in this young DMD population. Clinical evaluators from the MDA-DMD Clinical Research Network were trained in these assessment tools. Infants and boys with DMD (n=24; 1.9±0.7 years) were assessed. The mean Bayley-III motor composite score was low (82.8 ± 8; p=<.0001)(normal=100 ± 15). Mean gross motor and fine motor function scaled scores were low (both p=<.0001). The mean cognitive comprehensive (p=.0002), receptive language (p=<.0001), and expressive language (p=.0001) were also low compared to normal children. Age was negatively associated with Bayley-III gross motor (r=−0.44 p=.02) but not with fine motor, cognitive, or language scores. HFMSE (n=23) showed a mean score of 31 ± 13. NSAA (n =18 boys; 2.2 ± 0.4years) showed a mean score of 12 ± 5. Outcome assessments of young boys with DMD are feasible and in this multicenter study were best demonstrated using the Bayley-III.

Background Therapeutic trials in Duchenne muscular dystrophy (DMD) often exclude non-ambulatory individuals. Here we establish optimal and reliable assessments in a multicenter trial. Methods Non-ambulatory boys/men with DMD (n=91;16.7± 4.5 years) were assessed by trained clinical evaluators. Feasibility (percentage completing task) and reliability [intra-class correlation coefficients (ICCs) between AM and PM tests] were measured. Results Forced Vital Capacity (FVC, 100% of subjects) showed a mean 47.8 ± 22% predicted (ICC 0.98). Brooke upper extremity functional rating (Brooke) and Egen Klassifikation (EK) scales in 100% of subjects showed ICCs from 0.93-0.99. Manual muscle testing, range of motion, nine-hole peg, and Jebsen-Taylor Hand function testing (JHFT) had variable feasibility (99% to 70%) with ICC also ranging from 0.99 to 0.64. We found beneficial effects of different forms of corticosteroids for Brooke Scale, %predicted FVC, and hand and finger strength. Conclusion Reliable assessment of non-ambulatory boys/men with DMD is possible. Clinical trials will have to consider corticosteroid use.

Evaluation of ultrasound images of muscle with calibrated muscle backscatter (cMB) provides reproducible quantitative measurements of muscle pathology. Increased cMB is associated with greater muscle pathology. We used cMB to evaluate the severity of muscle pathology in 55 patients with Duchenne and Becker Muscular Dystrophy (D/BMD) compared to 77 controls. cMB was also compared to measurements of strength and function. cMB in DMD and BMD increased linearly with age and was higher than in controls when groups are compared. cMB increased twice as fast with age in DMD than in BMD. In DMD, cMB was higher with reduced function and strength. Ultrasound measurement of muscle pathology using cMB is a sensitive and objective quantitative technique for determining the severity of muscle pathology in dystrophinopathies. Longitudinal studies are required to determine the sensitivity of this measure to changes in pathology over time.

Introduction-Acid maltase deficiency (AMD) (Pompe disease) is an inherited myopathic disorder of glycogen degradation. Diagnosis is often delayed. Muscle ultrasound could improve diagnosis.

Introduction Quantitative muscle ultrasound (QUS) in boys with Duchenne Muscular Dystrophy (DMD) shows increased echointensity as muscle is replaced with fat and fibrosis. Studies of quantitative ultrasound in infants/young boys with DMD over time have not been reported. Methods We used calibrated muscle backscatter (cMB), a reproducible measure of ultrasound echointensity, to quantify muscle pathology in 5 young boys with DMD (ages 0.5–2.8 years) over 17–29 months. We compared results to repeated assessments of function (n=4) and to muscle ultrasound images from a cross section of 6 male controls (0.6–3.1 years). Results cMB in boys with DMD increased (worsened) over time (P<0.001), while function improved. After age 2 years, cMB in most (4 of 5) boys with DMD was higher than in any control. Conclusions QUS measures disease progression in young boys with DMD despite functional improvements. QUS could be employed as an outcome measure for serial assessment of young boys with DMD.