title: Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes.
abstract: Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The present study examines putative differences in affective information processing and social assertiveness between adult women with NS and TS. Twenty-six women with NS, 40 women with TS, and 40 female controls were matched on age and intelligence, and subsequently compared on (1) alexithymia, measured by the Bermond-Vorst Alexithymia Questionnaire, (2) emotion perception, evaluated by the Emotion Recognition Task, and (3) social assertiveness and social discomfort, assessed by the Scale for Interpersonal Behavior. Women with TS showed higher levels of alexithymia than women with NS and controls (P-values < 0.001), whereas women with NS had more trouble recognizing angry facial expressions in comparison with controls (P = 0.01). No significant group differences were found for the frequency of social assertiveness and the level of social discomfort. Women with NS and TS demonstrated different patterns of impairment in affective information processing, in terms of alexithymia and emotion perception. The present findings suggest neuropsychological phenotyping to be helpful for the diagnosis of specific cognitive-affective deficits in genetic syndromes, for the enhancement of genetic counseling, and for the development of personalized treatment plans.
authors.affiliation: Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands; Centre of Excellence for Korsakoff and Alcohol-Related Cognitive Disorders, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, the Netherlands; Behavioural Science Institute, Radboud University Nijmegen, Nijmegen, the Netherlands.
authors.forename: Renée L
authors.initials: RL
authors.lastname: Roelofs
authors.forename: Ellen
authors.initials: E
authors.lastname: Wingbermühle
authors.forename: Kim
authors.initials: K
authors.lastname: Freriks
authors.forename: Chris M
authors.initials: CM
authors.lastname: Verhaak
authors.forename: Roy P C
authors.initials: RP
authors.lastname: Kessels
authors.forename: Jos I M
authors.initials: JI
authors.lastname: Egger
mesh_terms: D000328:Adult; D000342:Affective Symptoms / Q000209:etiology*; D001242:Assertiveness; D016022:Case-Control Studies; D004644:Emotions; D005260:Female; D006801:Humans; D009634:Noonan Syndrome / Q000523:psychology*; D014424:Turner Syndrome / Q000523:psychology*; D055815:Young Adult
keywords: Noonan syndrome; Turner syndrome; affective information processing; alexithymia; cognition; contextual neuropsychology; emotion perception; emotions; psychopathology; social assertiveness