Facial emotion recognition in myotonic dystrophy type 1 correlates with CTG repeat expansion

Abstract

Objective: To investigate the ability of patients with myotonic dystrophy type 1 to recognise basic facial emotions. We also explored the relationship between facial emotion recognition, neuropsychological data, personality, and CTG repeat expansion data in the DM-1 group. Methods: In total, 50 patients with DM-1 (28 women and 22 men) participated, with 41 healthy controls. Recognition of facial emotional expressions was assessed using photographs of basic emotions. A set of tests measured cognition and personality dimensions, and CTG repeat size was quantified in blood lymphocytes. Results: Patients with DM-1 showed impaired recognition of facial emotions compared with controls. A significant negative correlation was found between total score of emotion recognition in a forced choice task and CTG repeat size. Furthermore, specific cognitive functions (vocabulary, visuospatial construction ability, and speed) and personality dimensions (reward dependence and cooperativeness) correlated with scores on the forced choice emotion recognition task. Conclusion: These findings revealed a CTG repeat dependent facial emotion recognition deficit in the DM-1 group, which was associated with specific neuropsychological functions. Furthermore, a correlation was found between facial emotional recognition ability and personality dimensions associated with sociability. This adds a new clinically relevant dimension in the cognitive deficits associated with DM-1.

Social cognition in myotonic dystrophy type 1: Specific or secondary impairment?

“…Contrary to the findings of Winblad et al [ 24 ], the failure to find a correlation between scores on the POFA test and CTG expansion size in our study could be taken to suggest that facial emotion recognition deficit is a specific deficit affecting DM1 patients as a whole group and is not dependent on genetic load. This idea is also supported by the results of Kobayakawa et al [ 25 ] who found no correlation between CTG and RMET.…”

“…This same result was reported by Kobayakawa and colleagues [ 22 , 46 ], using the Reading the Mind in the Eyes Test (RMET). Similarly, Takeda et al [ 23 ] and Winblad et al [ 24 ] reported lower scores in the DM1 group for anger and disgust, and additionally found differences in the recognition of fear.…”

Social cognition in myotonic dystrophy type 1: Specific or secondary impairment?

“…Contrary to the findings of Winblad et al [ 24 ], the failure to find a correlation between scores on the POFA test and CTG expansion size in our study could be taken to suggest that facial emotion recognition deficit is a specific deficit affecting DM1 patients as a whole group and is not dependent on genetic load. This idea is also supported by the results of Kobayakawa et al [ 25 ] who found no correlation between CTG and RMET.…”

“…This same result was reported by Kobayakawa and colleagues [ 22 , 46 ], using the Reading the Mind in the Eyes Test (RMET). Similarly, Takeda et al [ 23 ] and Winblad et al [ 24 ] reported lower scores in the DM1 group for anger and disgust, and additionally found differences in the recognition of fear.…”

Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study

“…Our observations are in line with some theoretical models, such as the Cognitive Awareness Model [ 40 ] and Petrified Self Model [ 41 ] that identify self-awareness as a metacognitive function relying on high-order cognitive abilities with consistent structural and functional connectivity with frontal circuitry. Moreover these results are coherent with the hypothesis that DM1 patients present dysfunctions in social cognition , that is a set of psychological processes including recognizing common social knowledge and emotional relevance of everyday information coming from the environment [ 21 , 26 ].…”

Correlation among subcortical white matter lesions, intelligence and CTG repeat expansion in classic myotonic dystrophy type 1

“…A clinical manifestation of classic DM1, such as age at onset and disease severity has been shown to correlate with the size of the CTG repeat expansion (11)(12)(13)19). Some studies also demonstrated a positive correlation between cerebral abnormality and CTG repeats (11,(20)(21)(22)(23). In our data with all patients and those with a CTG repeat <400, the poor genotype-phenotype correlation might be because of the small sample mass.…”

Social cognition in myotonic dystrophy type 1: Specific or secondary impairment?

“…Contrary to the findings of Winblad et al [ 24 ], the failure to find a correlation between scores on the POFA test and CTG expansion size in our study could be taken to suggest that facial emotion recognition deficit is a specific deficit affecting DM1 patients as a whole group and is not dependent on genetic load. This idea is also supported by the results of Kobayakawa et al [ 25 ] who found no correlation between CTG and RMET.…”

“…This same result was reported by Kobayakawa and colleagues [ 22 , 46 ], using the Reading the Mind in the Eyes Test (RMET). Similarly, Takeda et al [ 23 ] and Winblad et al [ 24 ] reported lower scores in the DM1 group for anger and disgust, and additionally found differences in the recognition of fear.…”

Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study

“…Our observations are in line with some theoretical models, such as the Cognitive Awareness Model [ 40 ] and Petrified Self Model [ 41 ] that identify self-awareness as a metacognitive function relying on high-order cognitive abilities with consistent structural and functional connectivity with frontal circuitry. Moreover these results are coherent with the hypothesis that DM1 patients present dysfunctions in social cognition , that is a set of psychological processes including recognizing common social knowledge and emotional relevance of everyday information coming from the environment [ 21 , 26 ].…”

Correlation among subcortical white matter lesions, intelligence and CTG repeat expansion in classic myotonic dystrophy type 1

“…A clinical manifestation of classic DM1, such as age at onset and disease severity has been shown to correlate with the size of the CTG repeat expansion (11)(12)(13)19). Some studies also demonstrated a positive correlation between cerebral abnormality and CTG repeats (11,(20)(21)(22)(23). In our data with all patients and those with a CTG repeat <400, the poor genotype-phenotype correlation might be because of the small sample mass.…”

Social cognition in myotonic dystrophy type 1: Specific or secondary impairment?

“…Contrary to the findings of Winblad et al [ 24 ], the failure to find a correlation between scores on the POFA test and CTG expansion size in our study could be taken to suggest that facial emotion recognition deficit is a specific deficit affecting DM1 patients as a whole group and is not dependent on genetic load. This idea is also supported by the results of Kobayakawa et al [ 25 ] who found no correlation between CTG and RMET.…”

“…This same result was reported by Kobayakawa and colleagues [ 22 , 46 ], using the Reading the Mind in the Eyes Test (RMET). Similarly, Takeda et al [ 23 ] and Winblad et al [ 24 ] reported lower scores in the DM1 group for anger and disgust, and additionally found differences in the recognition of fear.…”

Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study

“…Our observations are in line with some theoretical models, such as the Cognitive Awareness Model [ 40 ] and Petrified Self Model [ 41 ] that identify self-awareness as a metacognitive function relying on high-order cognitive abilities with consistent structural and functional connectivity with frontal circuitry. Moreover these results are coherent with the hypothesis that DM1 patients present dysfunctions in social cognition , that is a set of psychological processes including recognizing common social knowledge and emotional relevance of everyday information coming from the environment [ 21 , 26 ].…”

Correlation among subcortical white matter lesions, intelligence and CTG repeat expansion in classic myotonic dystrophy type 1

“…A clinical manifestation of classic DM1, such as age at onset and disease severity has been shown to correlate with the size of the CTG repeat expansion (11)(12)(13)19). Some studies also demonstrated a positive correlation between cerebral abnormality and CTG repeats (11,(20)(21)(22)(23). In our data with all patients and those with a CTG repeat <400, the poor genotype-phenotype correlation might be because of the small sample mass.…”