Orphanet Journal of Rare Diseases (Sep 2024)
Social cognition, psychosocial development and well-being in galactosemia
Abstract
Abstract Background Classic galactosemia is a rare inherited metabolic disease with long-term complications, particularly in the psychosocial domain. Patients report a lower quality of social life, difficulties in interactions and social relationships, and a lower mental health. We hypothesised that social cognition deficits could partially explain this psychological symptomatology. Eleven adults with galactosemia and 31 control adults participated in the study. We measured social cognition skills in cognitive and affective theory of Mind, and in basic and complex emotion recognition. We explored psychosocial development and mental well-being. Results We found significant deficits on all 4 social cognition measures. Compared to controls, participants with galactosemia were impaired in the 2nd-order cognitive theory of mind, in affective theory of mind, and in basic and complex emotion recognition. Participants with galactosemia had a significant delay in their psychosexual development, but we found no delay in social development and no significant decrease in mental health. Conclusion Social cognition processes seem impaired among our participants with galactosemia. We discuss the future path research may follow. More research is needed to replicate and strengthen these results and establish the links between psychosocial complications and deficits in social cognition.
Keywords