Cognitive, Behavioural, and Emotional Profiles in Alström Syndrome: A Deep Phenotyping Study

Project Summary

Are you interested in how rare genetic conditions shape development, behaviour, and mental health? Applications are open for a fully funded PhD (fees + stipend) starting October 2026 at Aston University, focused on the cognitive, behavioural, and emotional profile of children with Alström syndrome. Jointly funded with Birmingham Women’s and Children’s Hospital Research Charity, the project will generate the first detailed characterisation of neurodevelopment and mental health in this condition, working closely with families, clinicians, and support organisations to improve understanding and clinical care.

Project Details

Alström syndrome is a multisystem genetic condition associated with progressive visual impairment, hearing loss, and complex medical needs. While the physical features of the condition are well characterised, there is very limited understanding of the cognitive, behavioural, and emotional profile associated with the syndrome.

This PhD will address these gaps through a mixed-methods “deep phenotyping” approach, combining:

• A systematic review of existing literature
• Qualitative interviews with parents and adolescents
• A cross-sectional quantitative assessment of cognitive, behavioural, and emotional functioning

The project will explore how neurodevelopmental characteristics relate to sensory impairment, and how these profiles are associated with mental health outcomes. Findings will provide a foundation for improved assessment, support, and future intervention development.