Caregiver Burden and Related Factors Among Caregivers of Patients with Myotonic Dystrophy Type 1

Kurauchi, Go; Endo, Makiko; Odaira, Kaori; Ono, Ryohei; Koseki, Atsushi; Goto, Momoko; Sato, Yumi; Kon, S.; Watanabe, Norio; Sugawara, Norio; Kimura, En; Takada, Hiroto

doi:10.3233/jnd-190386

Cited by 8 publications

(10 citation statements)

References 41 publications

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“…Moreover, white matter tract mean diffusivity in the superior longitudinal fasciculus and cingulum has been associated with an increased score on the Epworth Sleepiness Scale (4). The prevalent symptom of hypersomnolence causes major morbidity in DM1 (16,45,(78)(79)(80)(81). Although relatively FIGURE 1 | Disease duration as a predictor of clinical measures in DM1.…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, white matter tract mean diffusivity in the superior longitudinal fasciculus and cingulum has been associated with an increased score on the Epworth Sleepiness Scale ( 4 ). The prevalent symptom of hypersomnolence causes major morbidity in DM1 ( 16 , 45 , 78 – 81 ). Although relatively crudely tracked by self-report in this current study, this feature can also be evaluated by quantitative assessment such as EEG from polysomnography, which could be used in future studies or clinical trials ( 82 ).…”

Section: Discussionmentioning

confidence: 99%

“…The majority of studies evaluating depression in DM1 have utilized rating scales such as the Beck Depression Inventory (BDI) (6,9,10,14,16,(22)(23)(24)(25)(26)(27)(28), the Hamilton Rating Scale for Depression (HAM-D) (29)(30)(31)(32)(33)(34) or a variety of other standardized, self-rating scales (35)(36)(37)(38)(39)(40)(41)(42)(43)(44)(45)(46)(47)(48), and comparison groups were often adults with no major medical illnesses. However, rating scales such as the BDI-II not only assess mood and cognitive symptoms such as sadness, suicidality, and guilt, but also somatic symptoms such as fatigue and sleep disturbance.…”

Section: Introductionmentioning

confidence: 99%

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Cognitive Deficits, Apathy, and Hypersomnolence Represent the Core Brain Symptoms of Adult-Onset Myotonic Dystrophy Type 1

et al. 2021

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Myotonic dystrophy type 1 is the most common form of muscular dystrophy in adults, and is primarily characterized by muscle weakness and myotonia, yet some of the most disabling symptoms of the disease are cognitive and behavioral. Here we evaluated several of these non-motor symptoms from a cross-sectional time-point in one of the largest longitudinal studies to date, including full-scale intelligence quotient, depression, anxiety, apathy, sleep, and cerebral white matter fractional anisotropy in a group of 39 adult-onset myotonic dystrophy type 1 participants (27 female) compared to 79 unaffected control participants (46 female). We show that intelligence quotient was significantly associated with depression (P < 0.0001) and anxiety (P = 0.018), but not apathy (P < 0.058) or hypersomnolence (P = 0.266) in the DM1 group. When controlling for intelligence quotient, cerebral white matter fractional anisotropy was significantly associated with apathy (P = 0.042) and hypersomnolence (P = 0.034), but not depression (P = 0.679) or anxiety (P = 0.731) in the myotonic dystrophy type 1 group. Finally, we found that disease duration was significantly associated with apathy (P < 0.0001), hypersomnolence (P < 0.001), IQ (P = 0.038), and cerebral white matter fractional anisotropy (P < 0.001), but not depression (P = 0.271) or anxiety (P = 0.508). Our results support the hypothesis that cognitive deficits, hypersomnolence, and apathy, are due to the underlying neuropathology of myotonic dystrophy type 1, as measured by cerebral white matter fractional anisotropy and disease duration. Whereas elevated symptoms of depression and anxiety in myotonic dystrophy type 1 are secondary to the physical symptoms and the emotional stress of coping with a chronic and debilitating disease. Results from this work contribute to a better understanding of disease neuropathology and represent important therapeutic targets for clinical trials.

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Section: Discussionmentioning

confidence: 99%

“…Moreover, white matter tract mean diffusivity in the superior longitudinal fasciculus and cingulum has been associated with an increased score on the Epworth Sleepiness Scale ( 4 ). The prevalent symptom of hypersomnolence causes major morbidity in DM1 ( 16 , 45 , 78 – 81 ). Although relatively crudely tracked by self-report in this current study, this feature can also be evaluated by quantitative assessment such as EEG from polysomnography, which could be used in future studies or clinical trials ( 82 ).…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Cognitive Deficits, Apathy, and Hypersomnolence Represent the Core Brain Symptoms of Adult-Onset Myotonic Dystrophy Type 1

et al. 2021

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“…Studies in various conditions have reported a significant impact on caregivers' mental health, with a high prevalence of anxiety and depression symptoms [136,137]. These are often related to: the amount of time spent providing care [136,138]; the severity of the condition, as well as the emotional health of the patient [139,140]; isolation due to care commitments [138,141]; and physical difficulties such as the introduction of a wheelchair [142].…”

Section: Burden On Caregiversmentioning

confidence: 99%

The adult multidisciplinary respiratory neuromuscular clinic

Shah

Murphy

Kaltsakas

2020

Breathe

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Many neuromuscular disorders (NMD) are complicated by respiratory failure. These patients are best managed in a multidisciplinary outpatient clinic to provide timely access to the various disciplines they require. The key mainstay of treatment of respiratory failure in patients with NMD is noninvasive ventilation, supported by secretion clearance, speech and language therapy, optimisation of nutrition and the maintenance of mobility. Patients with specific conditions may also require cardiology, neurology, orthopaedics, urology and psychological services. The respiratory NMD multidisciplinary team should also provide access to palliative care, and caregiver health and wellbeing should also be reviewed at clinical reviews. The future of care for the respiratory NMD patient will increasingly involve home services and telehealth and the clinic should be equipped and resourced to deliver these. Although not all health systems will be able to provide all elements of the multidisciplinary team discussed here, this review provides the “ideal” recipe for the adult multidisciplinary team and the evidence base underpinning this from which a clinic can be developed.Educational aimsTo provide an overview of the care of an adult neuromuscular disorder patient presenting to the multidisciplinary respiratory clinic.To provide the evidence base for establishing the different elements of the multidisciplinary respiratory clinic.

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“…People affected by NMD diseases may have limited functional capacity to perform certain daily activities and often require caregiver assistance. This adds to the complexity of studying the NMD population given that patients may rely significantly on caregivers for relevant care-related decisions 9 , 10 .…”

Section: Introductionmentioning

confidence: 99%

A study protocol for quantifying patient preferences in neuromuscular disorders: a case study of the IMI PREFER Project

Jimenez-Moreno¹,

Pinto²,

Levitan³

et al. 2020

Wellcome Open Res

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Objectives: Patient preference studies are increasingly used to inform decision-making during the medical product lifecycle but are rarely used to inform early stages of drug development. The primary aim of this study is to quantify treatment preferences of patients with neuromuscular disorders, which represent serious and debilitating conditions with limited or no treatment options available. Methods: This quantitative patient preferences study was designed as an online survey, with a cross-over design. This study will target two different diseases from the neuromuscular disorders disease group, myotonic dystrophy type 1 (DM1) and mitochondrial myopathies (MM). Despite having different physio-pathological pathways both DM1 and MM manifest in a clinically similar manner and may benefit from similar treatment options. The sample will be stratified into three subgroups: two patient groups differentiated by age of symptom onset and one caregivers group. Each subgroup will be randomly assigned to complete two of three different preference elicitation methods at two different time points: Q-methodology survey, discrete choice experiment, and best-worst scaling type 2, allowing cross-comparisons of the results across each study time within participants and within elicitation methods. Additional variables such as sociodemographic, clinical and health literacy will be collected to enable analysis of potential heterogeneity. Ethics and Dissemination: This study protocol has undergone ethical review and approval by the Newcastle University R&D Ethics Committee (Ref: 15169/2018). All participants will be invited to give electronic informed consent to take part in the study prior accessing the online survey. All electronic data will be anonymised prior analysis. This study is part of the Patient Preferences in Benefit-Risk Assessments during the Drug Life Cycle (IMI-PREFER) project, a public-private collaborative research project aiming to develop expert and evidence-based recommendations on how and when patient preferences can be assessed and used to inform medical product decision making.

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Caregiver Burden and Related Factors Among Caregivers of Patients with Myotonic Dystrophy Type 1

Cited by 8 publications

References 41 publications

Cognitive Deficits, Apathy, and Hypersomnolence Represent the Core Brain Symptoms of Adult-Onset Myotonic Dystrophy Type 1

Cognitive Deficits, Apathy, and Hypersomnolence Represent the Core Brain Symptoms of Adult-Onset Myotonic Dystrophy Type 1

The adult multidisciplinary respiratory neuromuscular clinic

A study protocol for quantifying patient preferences in neuromuscular disorders: a case study of the IMI PREFER Project

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