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

• Published in: Journal of neurology, neurosurgery and psychiatry neurosurgery and psychiatry, 2006-02, Vol.77 (2), p.219-223
• Main Authors: Winblad, S, Hellström, P, Lindberg, C, Hansen, S
• Format: Article
• Language: English
• Subjects: Adult; Basic Medicine; Biological and medical sciences; Cognition & reasoning; Cognition Disorders - genetics; Cognition Disorders - psychology; Colour Word Test; Controlled Oral Word Test; COWAT; CTG repeat expansion; CWT; Discrimination Learning - physiology; Diseases of striated muscles. Neuromuscular diseases; DM-1; emotion recognition; Emotions; Emotions - physiology; Executive function; facial emotion recognition; Female; Human viral diseases; Humans; Infectious diseases; Labeling; Male; Medical sciences; Medicinska grundvetenskaper; Middle Aged; myotonic dystrophy; Myotonic Dystrophy - genetics; Myotonic Dystrophy - psychology; myotonic dystrophy type 1; Myotonin-Protein Kinase; Neurology; Neuropsychological Tests - statistics & numerical data; Neuropsychology; Nonverbal Communication; Pathology; Patients; Personality; Personality Inventory - statistics & numerical data; Pictures of Facial Affect; POFA; Protein-Serine-Threonine Kinases - genetics; Psychology; Psychometrics - statistics & numerical data; Psykologi; RAVLT; RCFT; Reference Values; Rey Auditory Verbal Learning Test; Rey Complex Figure Test; Social cognition; Statistics as Topic; TCI; Temperament and Character Inventory; TMT; Trail Making Test; Trinucleotide Repeats; Viral diseases; Viral diseases with cutaneous or mucosal lesions and viral diseases of the eye; WAIS-R; WCST; Wechsler Adult Intelligence Scale-Revised; Wisconsin Card Sorting Test; Women
• ISSN: 0022-3050; 1468-330X
• DOI: 10.1136/jnnp.2005.070763

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.