Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart review

Gagnon, Cynthia; Kierkegaard, Marie; Blackburn, Catherine; Chrestian, Nicolas; Lavoie, Mélissa; Bouchard, Marie-Frédéric; Mathieu, Jean

doi:10.1111/dmcn.13282

Cited by 14 publications

(15 citation statements)

References 32 publications

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“…Eriksson et al found that 62% of their population had a predicted need for help to live independently in the community. This is lower than that reported in the retrospective study of Gagnon et al where 91% of participants needed help to accomplish house‐related tasks independently . These diverging results could be related again to the concept of apathy, where participants are able to perform an activity in a standardized situation, but will not pursue this activity at home because of lack of interest or will.…”

contrasting

confidence: 61%

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Understanding factors hampering activities of daily living performance in childhood‐onset myotonic dystrophy phenotypes

Gagnon

Gallais

2019

Develop Med Child Neuro

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contrasting

confidence: 61%

“…All participants were living either with their parents or in a group home. This is different from the study by Gagnon et al, where 44% of adults were living with a spouse or alone . Eriksson et al found that 62% of their population had a predicted need for help to live independently in the community.…”

mentioning

confidence: 58%

Understanding factors hampering activities of daily living performance in childhood‐onset myotonic dystrophy phenotypes

Gagnon

Gallais

2019

Develop Med Child Neuro

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“…This high percentage indicates that adult participants are dependent on others in their daily life. The issue of dependency has been discussed in previous studies, but the additional information yielded by this study suggests that dependency is first and foremost due to weak process skills.…”

Section: Discussionmentioning

confidence: 72%

“…Being able to perform daily activities is key to full participation in society. In a study by Gagnon et al of restrictions to participation in adults with childhood DM1, only 46% of the sample lived independently. Previous studies of the extent to which children and adolescents with congenital and childhood DM1 manage daily activities are based mainly on questionnaires answered by proxies, who evaluated what the individual could do independently but provided no information about how the tasks were performed.…”

mentioning

confidence: 97%

Daily activity performance in congenital and childhood forms of myotonic dystrophy type 1: a population‐based study

Eriksson

Ekström

Peny‐Dahlstrand

2019

Develop Med Child Neuro

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Aims To identify and describe the profile characterizing motor and process skills during daily activity performance in individuals with congenital and childhood forms of myotonic dystrophy type 1 (DM1) and to investigate differences in performance between subgroups. Method Sixty participants (34 males, 26 females, mean age=17y 8mo, SD=6y 0mo, range 5y 8mo–29y 0mo) were divided into severe congenital (n=9), mild congenital (n=20), and childhood (n=31) DM1 subgroups. Daily activity performance was evaluated using a standardized observational instrument: the Assessment of Motor and Process Skills. Results Deficits in performance were more pronounced in process than motor skills. Performance more than 2 SDs below age‐specific norms was seen in 65% of participants for process skills and 33% of participants for motor skills. The cut‐off scores indicated a potential need for assistance in daily activities for 79% of participants older than 18 years of age (n=28) due to deficient process skills. Interpretation Extensive deficits in daily activity performance were found in congenital and childhood forms of DM1, mainly owing to deficient process skills. Such skills impact on the ability to perform daily activities and could explain dependency in individuals with DM1. Process skills should be considered when evaluating daily activity performance. What this paper adds Young people with myotonic dystrophy type 1 show deficits in motor and process skills when performing daily activities, compared with normative data. Deficits in process skills were more pronounced than deficits in motor skills.

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“…The prognosis of DM type 1 is associated with the age of onset (20). Patients with childhood-onset DM typically experience poorer outcomes and have higher mortality rates, whereas patients with adult-onset DM generally exhibit a more favorable prognosis (20). Adult-onset DM type 1, as documented in the present report, is the most prevalent form of the disorder (21).…”

Section: Discussionmentioning

confidence: 99%

Dystrophia myotonica type 1 presenting with dysarthria: A case report and literature review

Zhou

Zhu

et al. 2017

Experimental and Therapeutic Medicine

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Dystrophia myotonica (DM) type 1 is an autosomal dominant disorder, caused by a trinucleotide CTG repeat expansion in the 3′ untranslated region of the dystrophia myotonica protein kinase (DMPK) gene (chromosome 19q13.3). The disorder affects different organ systems, including the skeletal muscles, ocular lens, lungs, heart and gastrointestinal tract, as well as the endocrine and central nervous systems. The skeletal muscles are most frequently involved, whereby the disorder manifests as myotonia, muscle weakness and amyotrophy. However, DM type 1 presenting with dysarthria is rare. The current study presents a case of a 28-year-old male with DM type 1 presenting with dysarthria and associated multifocal hyperintense lesions in the white matter. Although electromyogram measurements identified myotonic discharges in all extremities, a muscle biopsy failed to detect the characteristic pathological features of DM type 1. A lack of a positive family history for DM type 1 also obscured diagnosis. However, genetic analysis detected a single allele in the P12 segment of the DMPK gene that included a CTG expansion of 13 repeats and a three-base gradient fragment in the P134 segment that included a CTG expansion of >600 repeats. According to the characteristics of dysarthria, multifocal hyperintense lesions in the white matter, electromyogram measurement results and genetic testing results, a diagnosis of DM type 1 was confirmed.

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Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart review

Cited by 14 publications

References 32 publications

Understanding factors hampering activities of daily living performance in childhood‐onset myotonic dystrophy phenotypes

Understanding factors hampering activities of daily living performance in childhood‐onset myotonic dystrophy phenotypes

Daily activity performance in congenital and childhood forms of myotonic dystrophy type 1: a population‐based study

Dystrophia myotonica type 1 presenting with dysarthria: A case report and literature review

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