Delayed Developmental Language Milestones in Children with Duchenne’s Muscular Dystrophy

Cyrulnik, Shana E.; Fee, Robert J.; Vivo, Darryl C. De; Goldstein, Édward; Hinton, Veronica J.

doi:10.1016/j.jpeds.2006.12.045

Cited by 90 publications

(78 citation statements)

References 49 publications

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“…144 Referral to a speech and language pathologist for assessment and treatment is necessary on suspicion of difficulties with speech acquisition or with continuing deficits in language comprehension or oral expression. Oral motor exercises and articulation therapy are necessary for young boys with DMD with hypotonia and in older patients who have deteriorating oral muscle strength and/or impaired speech intelligibility.…”

Section: Speech and Language Managementmentioning

confidence: 99%

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

Bushby

Finkel

Birnkrant

et al. 2010

The Lancet Neurology

1,719

1,596

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Section: Speech and Language Managementmentioning

confidence: 99%

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

Bushby

Finkel

Birnkrant

et al. 2010

The Lancet Neurology

1,719

1,596

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“…DMD can initially present with global developmental delay. 5 DMD is caused by dystrophin gene variants 6 which are inherited from female carriers in approximately two-thirds of cases 2 or occur de novo in the remaining one-third, 7 although a recent estimate suggests that the incidence of de novo variants may be as high as 50%. 8 Historical studies suggest an average age of diagnosis of DMD of 5 years in the United States and Europe, this figure remaining relatively stable over 26 years.…”

Section: Introductionmentioning

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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“…6 Deficits in short-term memory, executive functions, visuospatial ability, as well as deficits in some aspect of attention, problems with narrative, linguistic and reading skills have been described, irrespective of general intelligence. [7][8][9][10][11][12] Moreover, a higher incidence of different neuropsychiatric disorders, such as autism spectrum, attention deficit hyperactivity disorder, obsessive-compulsive disorders and social behavior problems has been revealed among affected males. [13][14][15][16][17] The impact of DMD on cognitive ability in cognitively healthy populations has not been studied to the best of our knowledge; therefore, in the current study we aim to investigate whether singlenucleotide DMD variants associate with variability in cognitive functions in general populations, suggesting loci in the DMD contributing to cognition, besides genuine DMD variants.…”

Section: Introductionmentioning

confidence: 99%

The dystrophin gene and cognitive function in the general population

et al. 2014

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The aim of our study is to investigate whether single-nucleotide dystrophin gene (DMD) variants associate with variability in cognitive functions in healthy populations. The study included 1240 participants from the Erasmus Rucphen family (ERF) study and 1464 individuals from the Rotterdam Study (RS). The participants whose exomes were sequenced and who were assessed for various cognitive traits were included in the analysis. To determine the association between DMD variants and cognitive ability, linear (mixed) modeling with adjustment for age, sex and education was used. Moreover, Sequence Kernel Association Test (SKAT) was used to test the overall association of the rare genetic variants present in the DMD with cognitive traits. Although no DMD variant surpassed the prespecified significance threshold (Po1 × 10 − 4 ), rs147546024:A4G showed strong association (β = 1.786, P-value = 2.56 × 10 − 4 ) with block-design test in the ERF study, while another variant rs1800273:G4A showed suggestive association (β = − 0.465, P-value = 0.002) with Mini-Mental State Examination test in the RS. Both variants are highly conserved, although rs147546024:A4G is an intronic variant, whereas rs1800273:G4A is a missense variant in the DMD which has a predicted damaging effect on the protein. Further gene-based analysis of DMD revealed suggestive association (P-values = 0.087 and 0.074) with general cognitive ability in both cohorts. In conclusion, both single variant and gene-based analyses suggest the existence of variants in the DMD which may affect cognitive functioning in the general populations.

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Delayed Developmental Language Milestones in Children with Duchenne’s Muscular Dystrophy

Abstract: In addition to the commonly reported delays in motor milestones, the current study documents delays in the acquisition of language milestones as well. These early delays are associated with significant impairments in later cognitive functioning.

Cited by 90 publications

References 49 publications

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

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

The dystrophin gene and cognitive function in the general population

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