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- Eriksson, Britt-Marie, et al.
(author)
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Daily activity performance in congenital and childhood forms of myotonic dystrophy type 1: a population-based study
- 2020
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In: Developmental Medicine and Child Neurology. - : Wiley. - 0012-1622 .- 1469-8749. ; 62:6, s. 723-728
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Journal article (peer-reviewed)abstract
- 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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| 2. |
- Gillenstrand, Jonas, et al.
(author)
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Behavioural strengths and difficulties in relation to intellectual functions and age in Swedish boys with Duchenne muscular dystrophy
- 2023
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In: Child Neuropsychology. - : Informa UK Limited. - 0929-7049 .- 1744-4136. ; 29:6, s. 959-972
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Journal article (peer-reviewed)abstract
- The aim of this study was to describe behavioral strengths and difficulties in relation to intellectual function and age in boys with DMD. In a cross-sectional design, 70 boys with DMD were tested at 5, 8, 11, and 14 years of age (mean age 10y 5 m). Parental ratings of behavioral strengths and difficulties were studied in relation to age, intellectual function, motor function, and family socioeconomic status (SES). Results show a significant relation between behavioral strengths and difficulties and age with parents rating increasingly more difficulties (slightly higher, higher and very high) from 5 years (11.1%) to 9 years (30.8%) and 11 years (78.9%) of age and then fewer difficulties at 14 years (50%) of age. Working Memory Index (WMI) explained significant variance in SDQ-Total-Score (17.5%) and SDQ-Impact-Score (11.2%). WMI together with upper motor function explained 19.5% variance in SDQ-Hyperactivity and 19.7% in SDQ-Peer-Problems. Age and SES explained an 18.9% variance in SDQ-Emotional-Problems. Age is an important factor when analyzing behavioral strengths and difficulties for boys with DMD. The development of boys with DMD needs to be understood in the context of expected developmental trajectory as well as in the decline of psychical functioning. Our study supports that age, cognition, motor function, and family SES all contribute to how behavioral strengths and difficulties evolves in boys with DMD.
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| 3. |
- Sejersen, Thomas, et al.
(author)
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Healthcare resource utilisation and direct medical cost for individuals with 5q spinal muscular atrophy in Sweden
- 2024
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In: EUROPEAN JOURNAL OF HEALTH ECONOMICS. - 1618-7598 .- 1618-7601.
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Journal article (peer-reviewed)abstract
- Background Spinal muscular atrophy (SMA) is a rare, progressive, neuromuscular disorder. Recent advances in treatment require an updated assessment of burden to inform reimbursement decisions.Objectives To quantify healthcare resource utilisation (HCRU) and cost of care for patients with SMA.Methods Cohort study of patients with SMA identified in the Swedish National Patient Registry (2007-2018), matched to a reference cohort grouped into four SMA types (1, 2, 3, unspecified adult onset [UAO]). HCRU included inpatient admissions, outpatient visits, procedures, and dispensed medications. Direct medical costs were estimated by multiplying HCRU by respective unit costs. Average annual HCRU and medical costs were modelled for SMA versus reference cohorts to estimate differences attributable to the disease (i.e., average treatment effect estimand). The trajectory of direct costs over time were assessed using synthetic cohorts.Results We identified 290 SMA patients. Annualised HCRU was higher in SMA patients compared with reference cohorts. Highest risk ratios were observed for inpatient overnight stays for type 1 (risk ratio [RR]: 29.2; 95% confidence interval [CI]: 16.0, 53.5) and type 2 (RR: 23.3; 95% CI: 16.4,33.1). Mean annual direct medical costs per patient for each year since first diagnosis were greatest for type 1 (euro114,185 and SMA-attributable: euro113,380), type 2 (euro61,876 and SMA-attributable: euro61,237), type 3 (euro45,518 and SMA-attributable: euro44,556), and UAO (euro4046 and SMA-attributable: euro2098). Costs were greatest in the 2-3 years after the first diagnosis for all types.Discussion and conclusion The economic burden attributable to SMA is significant. Further research is needed to understand the burden in other European countries and the impact of new treatments.
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