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. 2015 Apr;51(4):522-32.
doi: 10.1002/mus.24346. Epub 2015 Feb 11.

Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy

Anne M Connolly  1 , Elizabeth C Malkus, Jerry R Mendell, Kevin M Flanigan, J Philip Miller, Jeanine R Schierbecker, Catherine A Siener, Paul T Golumbek, Craig M Zaidman, Craig M Mcdonald, Linda Johnson, Alina Nicorici, Peter I Karachunski, John W Day, Jason M Kelecic, Linda P Lowes, Lindsay N Alfano, Basil T Darras, Peter B Kang, Janet Quigley, Amy E Pasternak, Julaine M Florence; MDA DMD Clinical Research Network
Collaborators, Affiliations

Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy

Anne M Connolly et al. Muscle Nerve. 2015 Apr.

Abstract

Introduction: 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 of age) were assessed by trained clinical evaluators. Feasibility (percentage completing task) and reliability [intraclass correlation coefficients (ICCs) between morning and afternoon tests] were measured.

Results: Forced vital capacity (FVC), assessed in all subjects, showed a mean of 47.8 ± 22% predicted (ICC 0.98). Brooke Upper Extremity Functional Rating (Brooke) and Egen Klassifikation (EK) scales in 100% of subjects showed ICCs ranging from 0.93 to 0.99. Manual muscle testing, range of motion, 9-hole peg test, and Jebsen-Taylor Hand Function Test (JHFT) demonstrated varied feasibility (99% to 70%), with ICCs ranging from 0.99 to 0.64. We found beneficial effects of different forms of corticosteroids for the Brooke scale, percent predicted FVC, and hand and finger strength.

Conclusions: Reliable assessment of non-ambulatory boys/men with DMD is possible. Clinical trials will have to consider corticosteroid use.

Keywords: Duchenne muscular dystrophy; corticosteroids; non-ambulatory; pulmonary function; quality of life; strength.

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Figures

Figure 1
Figure 1. Percent Predicted FVC versus Age
Spearman correlation, r = -0.78, P = <.0001. Three outliers are discussed in text.
Figure 2
Figure 2. Brooke Scale versus Age
Spearman correlation, r = +0.52, P < .0001. The outliers, subjects #66, age 19 years, and #88, age 25.8 years are discussed in text.
Figure 3
Figure 3. EK Scale Score versus Age
Spearman correlation, r = +0.63, P < .0001. The outlier, subject #66 is discussed in the text.
Figure 4
Figure 4. Right Hand Grip versus Age
Spearman correlation, r = -0.38, P = 0.0002. The 4 outliers are discussed in the text.
Figure 5
Figure 5. Left Hand Grip versus Age
Spearman correlation, r = -0.40, P=.0001. Outliers are discussed in text.
Figure 6
Figure 6. Right Key Pinch versus Age
Spearman correlation, r = -0.42, P<.0001. Outliers are discussed in text.
Figure 7
Figure 7. Left Key Pinch versus Age
Spearman correlation, r = -0.46, P <.0001.
Figure 8
Figure 8. Individual Neuromuscular Quality of Life Scores versus Age
Thirty-two subjects over age 18 completed the INQoL survey. Spearman correlation analysis showed no subscore or the total score correlated with age. Weakness, r =+ 0.19, P=.3; Independence, r = - 0.08, P=.66; Pain r = - 0.06; P=.41; and Total Score, r = -0.07; P= 0.67.
See this image and copyright information in PMC

References

    1. Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987;51:919–928. - PubMed
    1. Cohn RD, Liang HY, Shetty R, Abraham T, Wagner KR. Myostatin does not regulate cardiac hypertrophy or fibrosis. Neuromuscul Disord. 2007;17(4):290–296. - PMC - PubMed
    1. Eagle M, Baudouin SV, Chandler C, Giddings DR, Bullock R, Bushby K. Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord. 2002;12(10):926–929. - PubMed
    1. Wagner KR, Lechtzin N, Judge DP. Current treatment of adult Duchenne muscular dystrophy. Biochim Biophys Acta. 2007;1772(2):229–237. - PubMed
    1. Lebel DE, Corston JA, McAdam LC, Biggar WD, Alman BA. Glucocorticoid treatment for the prevention of scoliosis in children with Duchenne muscular dystrophy: long-term follow-up. J Bone Joint Surg Am. 2013;95(12):1057–1061. - PubMed

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