Can simple and low-cost motor function assessments help in the diagnostic suspicion of Duchenne muscular dystrophy?

Pereira, Aline Chacon; Araújo, Alexandra Prufer de Queiroz Campos; Ribeiro, Márcia Gonçalves

doi:10.1016/j.jped.2019.02.003

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Original articles • J. Pediatr. (Rio J.) 96 (4) • Jul-Aug 2020 • https://doi.org/10.1016/j.jped.2019.02.003 copy

Can simple and low-cost motor function assessments help in the diagnostic suspicion of Duchenne muscular dystrophy?^☆ ☆ Please cite this article as: Pereira AC, Araújo AP, Ribeiro MG. Can simple and low-cost motor function assessments help in the diagnostic suspicion of Duchenne muscular dystrophy? J Pediatr (Rio J). 2020;96:503-10. , ^☆☆ ☆☆ Study conducted at Universidade Federal do Rio de Janeiro (UFRJ), Instituto de Pediatria e Puericultura Martagão Gesteira (IPPMG), Departamento de Pediatria, Ambulatório de Neurologia Infantil, Rio de Janeiro, RJ, Brazil.

Authorship SCIMAGO INSTITUTIONS RANKINGS

Abstract

Objective:

Duchenne muscular dystrophy, an X-linked genetic disease, leads to progressive muscle weakness mainly in the lower limbs. Motor function tests help to monitor disease progression. Can low-cost, simple assessments help in the diagnostic suspicion of Duchenne muscular dystrophy? The authors aim to define the sensitivity of time to rise from the floor, time to walk 10 meters, and time to run 10 meters, evaluating them as eventual diagnostic screening tools.

Methods:

This is an analytical, observational, retrospective (1998-2015), and prospective study (2015-2018). Cases were recruited from the database of the pediatric neurology department and the healthy, from child care consultations, with normal gait development (up to 15 months) and without other comorbidities (neuromuscular, pulmonary, heart diseases) from the same university hospital.

Results:

128 Duchenne muscular dystrophy patients and 344 healthy children were analyzed, equally distributed in age groups. In Duchenne muscular dystrophy, there is a progressive increase in the means of the times to perform the motor tests according to the age group, which accelerates very abruptly after 7 years of age. Healthy children acquire maximum motor capacity at 6 years and stabilize their times. The time to rise showed a p-value <0.05 and a strong association (effect size [ES] >0.8) in all age groups (except at 12 years), with time to walk 10 meters from 9 years, and with time to run 10 meters , from 5 years. The 100% sensitivity points were defined as follows: time to rise, at 2 s; time to walk 10 meters, 5 s; time to run 10 meters, 4 s.

Conclusions:

Time to rise is a useful and simple tool in the screening of neuromuscular disorders such as Duchenne muscular dystrophy, a previously incurable disease with new perspectives for treatment.

KEYWORDS
Motor skills; Walking; Child development; Motor activity; Child development deviations; Developmental delay disorders

Motor tests (s)	Healthy			DMD			Comparative analysis
Time to Rise from floor (TRF)	Mean	Median	SD	Mean	Median	SD	t -testp -value	ES
TR2	1.67	1.40	0.62	3.08	2.75	1.24	0.003	-1.86
TR3	1.63	1.35	0.94	4.09	4.00	1.36	<0.001	-2.35
TR4	1.78	1.45	0.99	3.84	4.00	1.50	<0.001	-1.76
TR5	1.13	1.00	0.41	4.84	4.00	2.84	<0.001	-1.90
TR6	1.17	1.00	0.69	5.94	5.00	3.67	<0.001	-1.70
TR7	1.18	1.13	0.35	7.94	6.00	4.83	<0.001	-1.73
TR8	1.37	1.30	0.66	10.82	8.75	8.42	<0.001	-1.41
TR9	1.28	1.20	0.46	16.48	10.00	18.96	0.031	-1.33
TR10	1.27	1.10	0.53	13.10	11.50	7.19	<0.001	-2.47
TR11	1.07	0.90	0.45	18.95	11.00	25.83	<0.001	-1.28
TR12	1.29	1.10	0.48	7.50	7.50	0.00	0.1	-13.72

10 Meter walk test (10MWT)	Mean	Median	SD	Mean	Median	SD	t-testp-value	ES
WT2	13.14	13.60	2.06	7.25	7.50	0.96	0.002	3.12
WT3	12.05	12.00	1.86	7.98	7.99	1.56	<0.001	2.32
WT4	11.07	10.70	2.39	9.46	9.43	2.48	0.016	0.68
WT5	10.35	10.30	1.77	9.34	9.50	2.94	0.046	0.43
WT6	10.11	9.75	2.33	10.05	9.00	3.21	0.732	0.02
WT7	9.85	9.95	2.05	11.61	10.00	4.94	0.776	-0.42
WT8	9.95	9.80	1.84	10.98	10.00	3.59	0.302	-0.34
WT9	9.91	9.60	2.12	13.53	12.00	5.75	<0.001	-0.86
WT10	10.49	10.30	1.86	13.68	12.00	4.64	0.001	-0.86
WT11	9.32	9.30	1.51	13.54	12.00	4.11	0.001	-1.46
WT12	9.42	9.00	1.63	16.64	13.00	8.47	0.002	-1.48

10 Meter run test (10MRT)	Mean	Median	SD	Mean	Median	SD	t-testp-value	ES
RT2	7.95	7.75	1.48	5.00	5.00	0.00	0.096	1.50
RT3	6.89	7.00	1.10	6.25	6.25	1.06	0.313	-0.61
RT4	6.18	5.90	1.20	6.01	5.65	1.46	0.648	0.14
RT5	5.38	5.20	0.92	8.38	8.25	3.20	0.05	-2.40
RT6	4.99	5.00	0.63	6.92	6.34	1.60	<0.001	-2.09
RT7	4.86	4.65	0.61	8.66	7.81	3.60	<0.001	-2.03
RT8	4.88	4.80	0.65	7.36	6.70	2.97	0.001	-1.54
RT9	4.78	4.70	0.70	7.63	8.70	2.75	0.031	-2.80
RT10	4.72	4.70	0.67	8.70	9.00	1.79	0.001	-4.55
RT11	4.63	4.80	0.81	8.60	10.00	2.42	0.008	-3.90
RT12	4.89	4.90	0.71	9.67	9.67	0.00	0.099	-7.14

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[1] * Corresponding author. E-mail: alinechacon@gmail.com.br (A.C. Pereira).