Cognitive endophenotypes in a family with bipolar disorder with a risk locus on chromosome 4.

OBJECTIVES: We studied cognitive function in high-risk relatives belonging to a single extended family showing linkage of bipolar disorder to a locus on chromosome 4. High-risk relatives were defined as those that carried the risk haplotype of polymorphic markers, identified in a previous linkage study. This family provided a rare opportunity to characterize a neuropsychological endophenotype in a homogeneous sample of relatives with a common genetic risk factor. METHODS: Fifteen family members carrying the risk haplotype (eight diagnosed with bipolar disorder or depression and seven with no psychiatric diagnosis), unrelated patients with bipolar disorder (n = 36) and major depressive disorder (n = 40), and healthy control subjects (n = 33) were administered the California Verbal Learning Test, Verbal Fluency Test, Hayling Sentence Completion Test, and Brixton Spatial Anticipation Test to assess verbal memory, verbal fluency, and executive function. RESULTS: Compared with healthy controls, family members carrying the risk haplotype were impaired in indices of memory and executive function. There were no significant differences between unaffected and affected haplotype-carrying family members in any cognitive measure. Pronounced deficits in the encoding stage of verbal memory and category verbal fluency were evident in individuals with the risk haplotype. CONCLUSIONS: Verbal learning and semantic verbal fluency impairments may represent a cognitive endophenotype for both bipolar disorder and major depression in relatives of bipolar disorder patients, as impairment was also present in high-risk relatives who had not developed any affective disorder symptoms. These findings suggest that impairment in semantic organization may be linked to the genetic aetiology of bipolar disorder.

The manipulation of arousal on the intensity of urges to pull hair in a 16 year old female with trichotillomania: a single case study.

Hairpulling (trichotillomania) is often linked to stressful circumstances and may produce feelings of guilt, shame and humiliation. In a behavioural model, affective experience was identified as an important maintaining factor, as both a cue and reinforcer. Habit Reversal is one of the more successful behavioural treatment options. The present study evaluated the role of emotional arousal in the intensity of urges to pull hair in a teenaged patient with trichotillomania. Using an experimental ABCD/DCBA reversal design, the patient used imagery to increase her emotional arousal through the presentation of a manipulation script based on her own experience, after baseline and during a rumination, cognitive and a behavioural distraction phase. Subjective measures of urge intensity were collected at five time points during completion of a task, and a tally was made of an overt hair touching behaviour operationalized as a hairpulling substitute behaviour. The patient experienced more intense urges to pull whilst ruminating on the arousal script compared to either of the distraction phases. The findings support the view that the experience of negative emotional arousal can exacerbate and intensify the experience of urges to pull hair in patients with trichotillomania, and that both cognitive and behavioural distraction techniques have some effect in controlling them. Demonstrating this to the patient aided engagement in treatment.