Developmental progress in Duchenne muscular dystrophy: lessons for earlier detection

Parsons, Evelyn; Clarke, Angus; Bradley, Don M.

doi:10.1016/j.ejpn.2004.01.009

Cited by 50 publications

(42 citation statements)

References 15 publications

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“…28 The heterogeneity of presentations may slow the recognition of symptoms related to these condition. 29 Diagnostic delays may occur due to a lack of awareness and knowledge amongst health professionals, particularly those in the community. Also, children who are initially managed by allied health professionals may not be promptly diagnosed with DMD as allied health professionals (eg, physical, occupational or speech therapists) cannot order screening tests for DMD, 14 or because models of care may focus on managing symptoms rather than ascertaining a diagnosis.…”

Section: Discussionmentioning

confidence: 99%

A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy

Wong¹,

McClaren²,

Archibald³

et al. 2015

Eur J Hum Genet

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The delayed diagnosis of Duchenne muscular dystrophy (DMD) may be an ongoing problem internationally. We aimed to ascertain age at diagnosis and explore parents' experiences of the diagnosis of DMD in Australia. Using mixed methods, data were collected from laboratory and clinical record audits of testing for DMD in Victoria and Tasmania, interviews and a national survey of parents regarding their experiences from first noticing symptoms to receiving a diagnosis. The audits revealed that the median age at diagnosis for DMD was 5 years (n = 49 during 2005-2010); this age had not changed substantially over this period. Fourteen parents interviewed reported age at diagnosis ranging from 2 to 8 years with a 6 month to 4 year delay between initial concerns about their child's development and receiving the DMD diagnosis. Sixty-two survey respondents reported the median age at diagnosis was 3 years and 9 months, while the median age when symptoms were noticed was 2 years and 9 months. Parents experienced many emotions in their search for a diagnosis and consulted with a wide range of health professionals. Half the survey respondents felt that their child could have been diagnosed earlier. Despite advances in testing technologies and increasing awareness of DMD, the age at diagnosis has remained constant in Australia. This mixed methods study shows that this diagnostic delay continues to have a negative impact on parents' experiences, places families at risk of having a second affected child and may have a deleterious effect on affected children's treatment.

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Section: Discussionmentioning

confidence: 99%

A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy

Wong¹,

McClaren²,

Archibald³

et al. 2015

Eur J Hum Genet

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“…There is a wide range of symptoms in DMD, which delay diagnosis, because the initial observations are non-specific and the age when boys present the first symptoms is variable 2 . In the majority of boys, the common symptoms begin, before four years old, and are commonly characterized by abnormal gait, walking with difficulty and frequent fall overs.…”

mentioning

confidence: 99%

Duchenne muscular dystrophy: alpha-dystroglycan immunoexpression in skeletal muscle and cognitive performance

Pereira

Kiyomoto

Cardoso³

et al. 2005

Arq. Neuro-Psiquiatr.

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-The Duchenne muscular systrophy (DMD) is a muscular dystrophy with cognitive impairment present in 20-30% of the cases. In the present study, in order to study the relationship between the α-dystroglycan (α-DG) immunostaining in skeletal muscle and cognitive performance in DMD patients, 19 were assessed. Twelve patients performed the intelligence quotient (IQ) below the average. Among the 19 patients, two were assessed by the Stanford-Binet test and 17 by Wechsler Intelligence Scale for Children-III (WISC-III). Nine patients performed a verbal IQ below the average, only three patients performed an average verbal IQ. The muscle biopsies immunostained with antibodies to α-DG showed that 17 patients presented a low expression, below 25% of the total fibers. Two patients presented α-DG immunostaining above 40% and an IQ within the average. No significant statistical relationship was demonstrated among total IQ, verbal IQ and execution IQ and α-DG immunostaining at these patients muscle samples.KEY WORDS: Duchenne muscular dystrophy, α-dystroglycan, cognitive impairment, dystrophin. Distrofia muscular de Duchenne: imunoexpressão da α-distroglicana em musculatura esqueléti-ca e performance cognitivaRESUMO -A distrofia muscular de Duchenne (DMD) é uma distrofia muscular com comprometimento cognitivo presente em 20-30% dos casos. No presente estudo, com a finalidade de estudar a relação entre a imunoexpressão da α-distroglicana (α-DG) em musculatura esquelética e a performance cognitiva em pacientes com DMD, foram avaliadas 19 crianças. Doze pacientes apresentaram o quociente de inteligência (QI) abaixo da média. Entre os 19 pacientes, dois foram avaliados pelo teste de Stanford-Binet e 17 pelo Wechsler Intelligence Scale para crianças-III (WISC-III). Nove apresentaram QI verbal abaixo da média, e apenas três QI verbal na média. As biopsias musculares com os anticorpos para α-DG mostraram que 17 pacientes apresentaram baixa expressão, abaixo de 25% do total de fibras. Dois pacientes apresentaram a imunoexpressão da α-DG acima de 40% e QI dentro da média. Não foi demonstrada relação estatisticamente significante entre o QI total, QI verbal e QI de execução e a imunoexpressão da α-DG . PALAVRAS-CHAVE: distrofia muscular de Duchenne, α-distroglicana, déficit cognitivo, distrofina.The Duchenne muscular dystrophy (DMD) is defined as an X linked recessive disorder, and the main features being progressive muscular weakness related to dystrophin protein deficiency in the skeletal muscle 1 . There is a wide range of symptoms in DMD, which delay diagnosis, because the initial observations are non-specific and the age when boys present the first symptoms is variable 2 . In the majority of boys, the common symptoms begin, before four years old, and are commonly characterized by abnormal gait, walking with difficulty and frequent fall overs. Other symptoms include delays in motor milestones and awkward gait 1 . The DMD is characterized by the absence of dystrophin the skeletal muscle 3 . The dystrophin is a protein that is...

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“…Com o acompanhamento da coorte de 22 pacientes com DMD feita por Parsons et al, verificou-se um atraso motor e de linguagem tanto pelas escalas de Denver quanto pela escala de Griffiths 18 .…”

Section: O Atraso Neuropsicomotor Na Dmdunclassified

Mental retardation in Duchenne muscular dystrophy

2012

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Objective: To survey the medical literature directed to the study of cognitive dysfunction in patients with Duchenne muscular dystrophy through description of the milestones of neurological development and psychometric tests for quantifying intelligence. Sources:Non-systematic review of aspects of cognition in Duchenne muscular dystrophy in the major medical scientific bases: MEDLINE, LILACS, SciELO and Cochrane Library. Summary of the findings:Patients with Duchenne muscular dystrophy exhibited delay in walking and language development, which correlated with lower scores on future intelligence tests. There is marked impairment in the verbal subtests. Conclusions:Average IQ has standard deviation below the average of the population. The greater the cognitive impairment, the worse aspects related to morbidity and mortality in the disease will be.J Pediatr (Rio J). 2012;88(1):6-16: Duchenne muscular dystrophy, mental retardation, delay milestones, neurological development delay. ResumoObjetivo: Fazer um levantamento da literatura médica destinada ao estudo das disfunções cognitivas nos pacientes com distrofia muscular de Duchenne, através da descrição dos marcos do desenvolvimento neuropsicomotor e dos testes psicométricos para quantificação da inteligência. Fontes dos dados:Revisão não sistemática sobre os aspectos da cognição na distrofia muscular de Duchenne nas principais bases médicas científicas: MEDLINE, LILACS, Biblioteca Cochrane e SciELO. Síntese dos dados:Os pacientes com distrofia muscular de Duchenne apresentaram atraso para marcha e desenvolvimento da linguagem, os quais se correlacionaram a menores pontuações nos testes de inteligência no futuro. Há marcante disfunção nos subtestes das habilidades verbais. Conclusões:A média do coeficiente de inteligência encontra-se com um desvio padrão abaixo da média populacional. Quanto maior a disfunção cognitiva, piores serão os aspectos relacionados à morbidade e mortalidade na doença.J Pediatr (Rio J). 2012;88(1):6-16: Distrofia muscular de Duchenne, retardo mental, atraso do desenvolvimento neuropsicomotor.

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Developmental progress in Duchenne muscular dystrophy: lessons for earlier detection

Cited by 50 publications

References 15 publications

A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy

A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy

Duchenne muscular dystrophy: alpha-dystroglycan immunoexpression in skeletal muscle and cognitive performance

Mental retardation in Duchenne muscular dystrophy

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