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. 2022;9(4):543-553.
doi: 10.3233/JND-210770.

The neurocognitive profile of adults with Becker muscular dystrophy in the Netherlands

Zaıda Koeks  1 , Danique M J Hellebrekers  2   3 , Nienke M van de Velde  1   4 , Iris Alleman  5 , Pietro Spitali  6 , Hermine A van Duyvenvoorde  7 , Jan J G M Verschuuren  1   4 , Jos G M Hendriksen  2   3   4 , Erik H Niks  1   4
Affiliations

The neurocognitive profile of adults with Becker muscular dystrophy in the Netherlands

Zaıda Koeks et al. J Neuromuscul Dis. 2022.

Abstract

Background: In Becker muscular dystrophy evidence for neurocognitive and behavioral comorbidity is evolving. More insight into the extend of these problems is of great importance for early detection and remediation in clinical practice.

Objective: In this study we aimed to describe the neurocognitive and behavioral features of a Dutch adult cohort of BMD patients, and to evaluate correlations to motor function outcomes.

Methods: 28 adult BMD patients were included. Intelligence, executive functioning, verbal memory and reaction times were assessed cross-sectionally. Additionally, patients completed questionnaires on behavioral and emotional symptoms, psychosocial and executive functions. Results were compared to normative data and correlated with disease severity as measured by the 10-meter run/walk test and Performance of the Upper Limb version 1.2.

Results: 15 patients (53.6%) had a high educational level despite frequent grade repeating (48.3%) during primary or secondary school. Neuropsychological testing revealed that intellectual abilities, verbal memory, processing speed and executive functioning were statistically significant below average, but still within normal range. Regarding outcomes of the behavioral questionnaires, no significant differences were reported compared to the norm population. No relevant correlations with disease severity were found.

Conclusions: This cohort of adult BMD patients exhibits minor cognitive impairments and no significant behavioral problems. The lower outcomes on processing speed and verbal memory, combined with the relatively high prevalence of grade repeating during primary and secondary school, implies that these minor impairments played a role in childhood. However, the on average high educational levels suggests that they grow out of their cognitive impairments with ageing.

Keywords: behavior; cognition; cognitive dysfunction; dystrophin; intellectual disability.

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Conflict of interest statement

None of the authors has any conflict of interest to report. All authors declare that the research was conducted in the absence of any commercial or financial relationships that could be a potential conflict of interest.

Figures

Fig. 1
Fig. 1
Scatter plot representing BMD participants’ performances on reaction times, executive functions and memory. The graph plots the individual data points per test and superimposes a horizontal line at the arithmetic mean, and error bars showing the±SD. N = 28 adult male participants with BMD. AR = Auditory Reaction time, VR = Visual Reaction time, WFA = Word Fluency Animals, WFP = Word Fluency Professions, IR = Immediate recall, DR = Delayed recall and RT = Recognition trial. AR and VR required motor abilities. For visualization of outcomes one participant was excluded from the figure as he had a z-score of –7 (outlier) on VR, but his outcome was included in the statistical analyses. p-values represent the comparison with normative data. *is considered statistically significant at 0.05 (two sided), **p-value is statistically significant at 0.01 (two-sided).
Fig. 2
Fig. 2
Verbal memory: immediate recall learning curve. The black line represents the mean amount of words (with error bars) recalled per trial of BMD study participants (N = 28). The grey line represents the mean amount of words (with error bars) recalled per trial for a norm population (N = 41).
See this image and copyright information in PMC

References

    1. Hoffman EP, Brown Jr RH , Kunkel LM. Dystrophin: The protein product of the Duchenne muscular dystrophy locus.Cell. 1987;51(6): 919–28. - PubMed
    1. Emery AE. The muscular dystrophies. Lancet. 2002;359(9307): 687–95. - PubMed
    1. Bushby KM, Gardner-Medwin D. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history. Journal of Neurology. 1993;240(2): 98–104. - PubMed
    1. Pane M, Lombardo ME, Alfieri P, D’Amico A, Bianco F, Vasco G, et al.. Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: Phenotype-genotype correlation. J Pediatr. 2012; 161(4): 705–9.e1. - PubMed
    1. Ricotti V, Mandy WP, Scoto M, Pane M, Deconinck N, Messina S, et al.. Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations. Dev Med Child Neurol. 2016; 58(1): 77–84. - PubMed

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