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Theory of mind, empathy and neuropsychological functioning in X-linked Spinal and Bulbar Muscular Atrophy: a controlled study of 20 patients

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Abstract

Recent studies have described brain involvement, mainly at frontal level, in patients with spinal and bulbar muscular atrophy (SBMA), a rare adult-onset motor neuron disease caused by a CAG repeat in the androgen receptor (AR) gene. The aim of our research was to investigate the poorly characterized neuropsychological and psychological profile of these patients, on the basis of previous literature. We administered a neuropsychological screening and tests relating to cognitive and affective empathy, attributed to the theory of mind (ToM) framework, to 20 males with SBMA, and to age- and education-matched controls. Although patients’ neuropsychological performance was unimpaired, a clear dissociation emerged between their cognitive and affective empathy. Patients had distinctive deficits in mentalizing, as assessed with the Faux Pas Test, whilst affective empathy (i.e., sharing experience), assessed with the Reading the Mind in the Eyes test, appeared to be preserved. The likely implications of subtle frontal lobe impairments on the one hand, and a protective influence of androgen insensitivity in these patients on the other, are discussed in the light of our results.

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Acknowledgments

We are grateful to the patients and healthy volunteers who participated in the study. We also thank Carla D’Ascenzo and Cinzia Bertolin for their remarkable contribution to the SBMA diagnosis and data collection.

Conflicts of interest

On behalf of all authors, the corresponding author states that there are no conflicts of interest to disclose.

Ethical standard

The study protocol was in accordance with the Helsinki Declaration on human rights and was approved by the Ethics Committee at the School of Psychology, University of Padova. All participants signed an informed consent form prior to their inclusion in the study.

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Authors and Affiliations

  1. Department of General Psychology, University of Padova, Via Venezia 12, 35131, Padua, Italy

    Elisa Di Rosa

  2. Department of Neurosciences: Neurological, Psychiatric, Sensorial, Reconstructive and Rehabilitative Sciences, University of Padova, via Giustiniani 2, 35100, Padua, Italy

    Elisa Di Rosa, Gianni Sorarù, Antonino Vallesi, Giorgia Querin, Sonia Marcato, Irene Grasso & Arianna Palmieri

  3. Department of Philosophy Sociology, Pedagogy and Applied Psychology (FISPPA), University of Padova, Via Venezia 8, 35131, Padua, Italy

    Johann Roland Kleinbub, Vincenzo Calvo & Arianna Palmieri

  4. Centro di Neuroscienze Cognitive, University of Padova, Padua, Italy

    Antonino Vallesi

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  1. Elisa Di Rosa
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  2. Gianni Sorarù
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Correspondence to Arianna Palmieri.

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Di Rosa, E., Sorarù, G., Kleinbub, J.R. et al. Theory of mind, empathy and neuropsychological functioning in X-linked Spinal and Bulbar Muscular Atrophy: a controlled study of 20 patients. J Neurol 262, 394–401 (2015). https://doi.org/10.1007/s00415-014-7567-5

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  • DOI: https://doi.org/10.1007/s00415-014-7567-5

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