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. 2020 Jul-Aug;96(4):503-510.
doi: 10.1016/j.jped.2019.02.003. Epub 2019 Apr 19.

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

Aline Chacon Pereira  1 , Alexandra Prufer de Queiroz Campos Araújo  2 , Márcia Gonçalves Ribeiro  3
Affiliations

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

Aline Chacon Pereira et al. J Pediatr (Rio J). 2020 Jul-Aug.

Abstract
in English, Portuguese

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 10meters, and time to run 10meters, 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 2s; time to walk 10 meters, 5s; time to run 10 meters, 4s.

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.

Objetivo: A distrofia muscular de Duchenne, doença genética ligada ao X, determina fraqueza muscular progressiva principalmente em membros inferiores. Os testes de função motora ajudam a monitorar a progressão da doença. Avaliações simples de baixo custo podem ajudar na suspeita diagnóstica da distrofia muscular de Duchenne? Objetivamos definir a sensibilidade do tempo levantar, tempo andar 10 metros e tempo correr 10 metros, avaliando-os como eventuais ferramentas de triagem diagnóstica.

Métodos: Estudo analítico, observacional, retrospectivo (1998 até 2015) e prospectivo (2015 até 2018). Os casos foram recrutados do banco de dados do serviço de neurologia infantil e os saudáveis, de consultas de puericultura, com desenvolvimento de marcha normal (até os 15 meses) e sem outras comorbidades (neuromusculares, pneumopatias, cardiopatias), do mesmo hospital universitário.

Resultados: Foram analisados 128 pacientes com distrofia muscular de Duchenne e 344 saudáveis, distribuídos igualmente em faixas etárias. Na distrofia muscular de Duchenne ocorre aumento progressivo das médias dos tempos para realizar as provas motoras, de forma acentuada a partir dos 7 anos. Os saudáveis estabilizam os tempos a partir dos 6 anos, adquirindo capacidade motora máxima. O tempo de levantar apresentou p-valor <0,05 e forte associação (TE >0,8) em todas as faixas etárias (exceto aos 12 anos), tempo de andar 10 metros a partir de 9 anos e o tempo de correr 10 metros, dos 5 anos. Os pontos de 100% sensibilidade foram definidos: tempo de levantar aos 2 segundos; tempo de andar, 5 segundos e tempo de correr 10 metros, 4 segundos.

Conclusões: O tempo de levantar é útil e simples na triagem de doenças neuromusculares como a distrofia muscular de Duchenne, doença antes incurável com novas perspectivas de tratamento.

Keywords: Atividade motora; Caminhada; Child development; Child development deviations; Desenvolvimento infantil; Desvios do desenvolvimento infantil; Developmental delay disorders; Habilidade motora; Motor activity; Motor skills; Transtornos de atraso do desenvolvimento; Walking.

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Figures

Figure 1
Figure 1
Mean time to rise chart: DMD and healthy. Chart representation of the mean of time to rise from the ground in patients with DMD and healthy ones. TR2, time to rise at 2 years; TR3, rime to rise at 3 years; TR4, time to rise at 4 years; TR5, time to rise at 5 years; TR6, time to rise at 6 Years; TR7, time to rise at 7 years; TR8, time to rise at 8 years; TR9, time to rise at 9 years; TR10, time to rise at 10 years; TR11, time to rise at 11 years; TR12, time to rise at 12 years.
Figure 2
Figure 2
Mean time to walk 10 meters: DMD and healthy. Chart representation of the mean of time to walk 10 meters in patients with DMD and healthy ones. TW2, time to walk at 2 years; TW3, time to walk at 3 years; TW4, time to walk at 4 years; TW5, time to walk at 5 years; TW6, time to walk at 6 years; TW7, time to walk at 7 years; TW8, time to walk at 8 years; TW9, time to walk at 9 years; TW10, time to walk at 10 years; TW11, time to walk at 11 years; TW12, time to walk at 12 years.
Figure 3
Figure 3
Mean time to run 10 meters: DMD and healthy. Chart representation of the mean of time to run 10 meters in patients with DMD and healthy ones. TR2, time to run at 2 years; TR3, time to run at 3 years; TR4, time to run at 4 years; TR5, time to run at 5 years; TR6, time to run at 6 years; TR7, time to run at 7 years; TR8, time to run at 8 years; TR9, time to run at 9 years; TR10, time to run at 10 years; TR11, time to run at 11 years; TR12, time to run at 12 years.
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