JR Family Project - exploring semantic cognition as a heritable phenotype in a multi-generational family

Finding pathways from biology to cognition is a modern aspiration for understanding the origins and expression of developmental disorders of language and communication (e.g ASD). In this long-standing study, we seek to probe the complex cognitive challenges faced by individuals from one specific multi-generational family (The JR Family) that led from their simple descriptions of a 'difficulty remembering words' in everyday situations.

As there was tentative support for a monogenic pattern of expression of 'affected' individuals across the family, we sought to persue a preliminary neuropsychological investigation. We identified a coherent cluster of verbal difficulties in small focal group of individuals relative to matched controls; poor verbal memory for stories, poor auditory comprehension of spoken prose, poor vocabulary knowledge and poor confrontational naming (but not definitions) of low frequency words. Of further interest was evidence of grey matter neuro-abnormalities in brain regions linked to multi-modal semantic cognition in the adult brain. [see Briscoe and Chilvers, et al., 2012].

Our current working hypotheses are that:
i) affected individuals in the JR family have impaired ability to bind feature information to generate coherent multi-modal concepts and organise concept knowledge adaptively over developmental time

ii) affected individuals in the JR family have impaired ability to regulate their use of multi-modal semantic knowledge to allow efficient and functional retrieval of words, features and concepts