**4.1 Assessment of cognitive function of DM1**

*Muscular Dystrophies*

the QOL [29, 30].

memory, as well as attention.

resulting in cognitive and psychiatric dysfunctions that have a significant impact on

Okkersen et al. [31], based on a systematic review and meta-analysis, demonstrated that DM1 patients have significant deficits in all cognitive domains compared to controls. Effect sizes were large (−.76–−1.01) for global cognition, intelligence, visual memory, visuospatial perception, visuoconstruction, psychomotor speed, and social cognition. Moreover, small to medium effect sizes (−.33–−.66) were observed for language, executive functioning, overall and verbal

A few studies have examined the relationship between cognitive impairment and the QOL [30, 32, 33]. However, the majority of these studies did not take all the

**40**

**Table 1.**

*Cognitive function of patients with DM1 (Fujino et al. [34]).*

Fujino et al. [34] conducted a study of the affected cognitive domains and evaluated the relationship between cognitive functions, psychological factors, and the QOL. Participants (N = 60) were recruited from five hospitals of National Hospital Organization in Japan. The general cognitive functions of the participants were evaluated with the Japanese version of the Mini-Mental State Examination (MMSE), and the estimated IQ was calculated from two subsets (Picture Completion and Information) of WAIS-III. Abstract reasoning was evaluated by using the Similarities subset and the Visual Perceptions Test for Agnosia (VTPA) Story Telling subset [35] in WAIS-III. Attention and working memory were evaluated with CAT subsets (Digit Span [forward, backward], Tapping Span [forward, backward], Auditory Detection task, Memory Updating 3, and PASAT-2. Executive function was evaluated with the Wisconsin Card Sorting Test (WCST), the Frontal Assessment Battery (FAB), the Trail Making Test (TMT)-B, the CAT Position Stroop test, and the semantic and phonemic fluency test. For the assessment of processing speed, TMT-A and 2 CAT subtests (Visual Cancelation task and Symbol Digit Modalities test) were used. For the evaluation of visuoconstructive ability, the WAIS-III Block Design and VPTA subtests (Copying Figures and Flowers, Bisection of Lines) were used. The CAT and VPTA are cognitive functional test batteries, which were developed by the Japan Society for Higher Brain Dysfunction.

As in psychological functioning, the five specific domains were assessed: apathy, depression, excessive daytime sleepiness, fatigue, and social responsiveness. The evaluation tools were Apathy Scale [36], Patients Health Questionnaire-9 (PHQ-9) [37], Epworth Sleepiness Scale (ESS) [38], Multidimensional Fatigue Inventory (MFI) [39], and Social Responsiveness Scale (SRS) [40]. The QOL was estimated with the Muscular Dystrophy Quality of Life Scale (MDQoL) [41] that was developed for Japanese patients with muscular dystrophies including DM1. This scale consists of 10 subscales: Psychological Stability, ADL, Environment, Hope, Activity, Health Relationships, Family, Sexuality, Breathing, and Defecation.


#### **Table 2.**

*Psychological variables and QOL of patients with DM1 (Fujino et al. [34]).*
