Univ. Savoie Mont Blanc, Univ. Grenoble Alpes, LIP/PC2S, Grenoble, 38000, France.
Orphanet J Rare Dis. 2024 Sep 6;19(1):325. doi: 10.1186/s13023-024-03335-2.
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.
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.
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.
经典半乳糖血症是一种罕见的遗传性代谢疾病,具有长期的并发症,特别是在社会心理领域。患者报告社交生活质量较低,在互动和社交关系方面存在困难,心理健康水平较低。我们假设社会认知缺陷可能部分解释了这种心理症状。11 名半乳糖血症成年患者和 31 名对照组成年人参与了这项研究。我们测量了认知和情感心理理论、基本和复杂情绪识别方面的社会认知技能。我们探讨了心理社会发展和心理健康状况。
我们发现所有 4 项社会认知测量均存在显著缺陷。与对照组相比,半乳糖血症患者在二阶认知心理理论、情感心理理论以及基本和复杂情绪识别方面存在缺陷。半乳糖血症患者的性心理发育明显延迟,但我们没有发现社会发育延迟,也没有发现心理健康显著下降。
我们的半乳糖血症患者的社会认知过程似乎存在缺陷。我们讨论了未来研究可能遵循的方向。需要更多的研究来复制和加强这些结果,并确定心理社会并发症与社会认知缺陷之间的联系。