Endophenotyping social cognition in the broader autism phenotype.

Relatives of individuals with autism spectrum disorder (ASD) may display milder social traits of the broader autism phenotype (BAP) providing potential endophenotypic markers of genetic risk for ASD. We performed a case-control comparison to quantify social cognition and pragmatic language difficulties in the BAP (n = 25 cases; n = 33 controls) using the Faux Pas test (FPT) and the Goldman-Eisler Cartoon task. Using deep phenotyping we then examined patterns of inheritance of social cognition in two large multiplex families and the spectrum of performance in 32 additional families (159 members; n = 51 ASD, n = 87 BAP, n = 21 unaffected).

Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype.

Families comprising many individuals with Autism Spectrum Disorders (ASD) may carry a dominant predisposing mutation. We implemented rigorous phenotyping of the "Broader Autism Phenotype" (BAP) in large multiplex ASD families using a novel endophenotype approach for the identification and characterisation of distinct BAP endophenotypes. We evaluated ASD/BAP features using standardised tests and a semi-structured interview to assess social, intellectual, executive and adaptive functioning in 110 individuals, including two large multiplex families (Family A: 30; Family B: 35) and an independent sample of small families ( = 45).

A systematic review and meta-analysis of psychological functioning in chronic tinnitus.

Chronic tinnitus, the phenomenon of a chronic ringing in the ears or head, has a significant negative impact on an individual's health and wellbeing. Despite this, there is no cure or consensus regarding factors maintaining ongoing awareness of the sensation in this population, or the severity of its impact. We aimed to comprehensively and systematically review behavioural studies investigating the psychological functioning of adults with chronic tinnitus.

Cognitive Mechanisms in Chronic Tinnitus: Psychological Markers of a Failure to Switch Attention.

The cognitive mechanisms underpinning chronic tinnitus (CT; phantom auditory perceptions) are underexplored but may reflect a failure to switch attention away from a tinnitus sound. Here, we investigated a range of components that influence the ability to switch attention, including cognitive control, inhibition, working memory and mood, on the presence and severity of CT. Our participants with tinnitus showed significant impairments in cognitive control and inhibition as well as lower levels of emotional well-being, compared to healthy-hearing participants.

Psychological mediators of chronic tinnitus: The critical role of depression.

Background: Maintenance of chronic tinnitus has been proposed to result from a vicious cycle of hypervigilance occurring when a phantom sound is associated with anxiety and limbic system overactivity. Depression, obsessive-compulsiveness, illness attitudes and coping strategies are known to impact tinnitus, but their relationship with the vicious cycle is unknown. As such, we aimed to identify psychological mediators of the vicious cycle.