Cognition in myotonic dystrophy type 1: a 5‐year follow‐up study

Winblad, Stefan; Samuelsson, Lena; Lindberg, Christopher; Meola, G.

doi:10.1111/ene.13062

Cited by 74 publications

(68 citation statements)

References 26 publications

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“…More thorough diagnostic screening procedures may identify less impaired patients with childhood DM1 in earlier stages of the disorder, which might be an explanation of the differences between the countries. [12][13][14] One could speculate that the disorder in children and adolescents with DM1 is a neurodevelopmental disorder, which in older age is supervened by deterioration of cognitive functioning. The VABS assess adaptive functioning from birth through adulthood in a developmental sequence, making it a useful instrument for following development over time, particularly as it also allows comparison of raw scores.…”

Section: Discussionmentioning

confidence: 99%

“…8 There are reports of a decrease in intellectual abilities in individuals with the congenital form of DM1, 10 as well as reports of a decline in Full-scale IQ in some individuals with the childhood form of DM1. Winblad et al 14 observed a cognitive decline in adultonset DM1, finding that earlier onset and longer duration of the disease were associated with greater cognitive deficits. 4,5 Findings from longitudinal research into the progression of cognitive impairment in adults with DM1 show a worsening of symptoms related to frontal cognitive impairment.…”

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confidence: 98%

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Cognitive and adaptive functioning in congenital and childhood forms of myotonic dystrophy type 1: a longitudinal study

Lindeblad

Kroksmark

Ekström

2019

Develop Med Child Neuro

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CSSComposite standard score CTG Cytosine-thymine-guanine DM1Myotonic dystrophy type 1 VABS Vineland Adaptive Behavior Scales AIM To conduct a longitudinal follow-up of the development of global cognitive abilities and adaptive skills in individuals with congenital and childhood forms of myotonic dystrophy type 1 (DM1).METHOD Fifty-one participants (29 males, 22 females, mean age 19y 5mo, SD 4y 11mo, range 10y 10mo-28y 11mo) were divided into severe congenital (n=16), mild congenital (n=17), and childhood DM1 (n=18) subgroups. The average time between the first and second assessments was 7 years 8 months. Adaptive skills were evaluated using the Vineland Adaptive Behavior Scales and global cognitive functioning using Wechsler scales. RESULTSThere was no statistically significant decline in cognitive abilities and adaptive behaviour. A tendency of decline regarding the level of intellectual disability was found in the congenital DM1 groups but not in the childhood group. In the congenital DM1 groups, the gap in relation to typically developing peers in cognitive and adaptive functioning increased. Predictors of change over time in adaptive skills were age and current level of intellectual disability: individuals with severe intellectual disability and younger individuals deteriorated the most. However, when raw scores were compared, no actual regression in adaptive functioning was found.INTERPRETATION The participants had not lost any important adaptive skills. Greater cognitive and adaptive development was found in the childhood group than in the congenital groups.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 98%

Cognitive and adaptive functioning in congenital and childhood forms of myotonic dystrophy type 1: a longitudinal study

Lindeblad

Kroksmark

Ekström

2019

Develop Med Child Neuro

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“…A large number of DM 1 patients showed reduced ability to recognize facial expressions in recognition tasks and have difficulty in understanding others' mental states from both interaction with others in everyday situations and from their facial expressions. They are impaired in tests assessing the theory of mind (ToM, ability to infer other people's mental states, thoughts and feelings; Takeda et al, 2009; Kobayakawa et al, 2010, 2012; Masaoka et al, 2011; Winblad et al, 2016). In addition, reduced awareness of disease burden is common (Baldanzi et al, 2016a).…”

Section: Neuropsychiatric Cognitive and Other Neurological Symptomsmentioning

confidence: 99%

“…Very recently, two studies have reported for DM1 patients, a cognitive decline on longitudinal studies of 5 or 9 years especially for verbal memory, attention, visuo-spatial construction, and processing speed (Gallais et al, 2017; Winblad et al, 2016). In particular, the Swedish study showed that cognitive decline in adult DM1 correlated with earlier onset and longer duration of the disease suggesting a degenerative process, while the Canadian study supported the hypothesis of a progeroid disease (accelerated and increased aging process).…”

Section: Progression Of Cns Symptoms With Agementioning

confidence: 99%

Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS

Gourdon

Meola

2017

Front. Cell. Neurosci.

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Myotonic dystrophies are multisystemic diseases characterized not only by muscle and heart dysfunction but also by CNS alteration. They are now recognized as brain diseases affecting newborns and children for myotonic dystrophy type 1 and adults for both myotonic dystrophy type 1 and type 2. In the past two decades, much progress has been made in understanding the mechanisms underlying the DM symptoms allowing development of new molecular therapeutic tools with the ultimate aim of curing the disease. This review describes the state of the art for the characterization of CNS related symptoms, the development of molecular strategies to target the CNS as well as the available tools for screening and testing new possible treatments.

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“…4 Most DM1 patients will need occupational therapy for equipment as muscle impairment develops. 11,12 The complex nature of DM1 results in various levels of disability, and for many, reduced social participation and independence. Neuropsychiatric symptoms and characteristic cognitive profiles, for instance impaired executive function and global cognitive impairment, are considered part of the disease.…”

Section: Introductionmentioning

confidence: 99%

Uncovering health and social care needs among myotonic dystrophy patients

et al. 2019

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Objectives: Myotonic dystrophy type 1 (DM1) is a slowly progressive multisystem disorder. Guidelines recommend multidisciplinary follow-up. We aimed to investigate the presence of unmet health and social care needs among patients with DM1 and whether unmet needs correlated with motor function, cognitive impairments, or quality of life. Material and Methods: Patients were 22 adults with DM1. "Needs and ProvisionsComplexity Scale" (NPCS) was applied to evaluate the individual's needs and provision of health and social services. The Muscular Impairment Rating Scale (MIRS) was used to measure motor function and disease stage. All patients underwent neuropsychological testing. The EQ-5D-3L questionnaire was used to evaluate the patients'health-related quality of life (HRQoL). Results:Median time from diagnosis was 11 years (range: 1-40). Twenty patients had developed needs related to social care, personal care, and rehabilitation that had not been met, whereas need for medical follow-up was largely met. The more pronounced the muscular impairment, the more unmet needs were experienced by DM1 patients (r = 0.50, P = 0.019). Degree of unmet needs did not correlate with full-scale IQ (r = −0.27, P = 0.23) or HRQoL (r = −0.14, P = 0.55). Conclusion:Using NPCS, we discovered that patients with DM1 had unmet needs with respect to social care, personal care, and rehabilitation although their need for medical follow-up was met. Thus, the use of NPCS helped bring our practice in better accordance with guidelines. A higher MIRS grade should alert the clinician to the likelihood of unmet needs. K E Y W O R D Scognitive function, healthcare delivery, myotonic dystrophy type 1, quality of life, social support

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Cognition in myotonic dystrophy type 1: a 5‐year follow‐up study

Abstract: Measurements show that classical/adult onset DM1 is characterized by cognitive decline. Both earlier onset and longer duration of the disease are indicative of more cognitive deficits.

Cited by 74 publications

References 26 publications

Cognitive and adaptive functioning in congenital and childhood forms of myotonic dystrophy type 1: a longitudinal study

Cognitive and adaptive functioning in congenital and childhood forms of myotonic dystrophy type 1: a longitudinal study

Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS

Uncovering health and social care needs among myotonic dystrophy patients

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