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Published on: December 2, 2015
Minor physical anomalies in schizophrenia and first-degree relatives in comparison to healthy controls: A systematic
Ekin Sut1, Özge Akgül2, Emre Bora3
1Department of Child and Adolescent Psychiatry, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.
Abstract:
Minor physical anomalies (MPAs) are anatomical variations that are markers of aberrant early neurodevelopment. Schizophrenia is associated with increased MPA frequency, however, the frequency and distribution of MPAs exhibit substantial heterogeneity in schizophrenia and are not exclusive to this disorder. MPAs at different localizations might represent different developmental origins and might be related to latent genetic predisposition or vulnerability to develop full-blown psychosis. Therefore, we conducted a thorough review of minor physical anomalies (MPAs) in schizophrenia (Sch) and first-degree relatives (SchRel). Analyzing 52 studies published from January 1980 to October 2023, the meta-analysis compared MPA scores between 3780 schizophrenia patients and 3871 controls, as well as 1415 SchRel and 1569 controls. The total MPA score was significantly increased in schizophrenia compared to controls (g = 0.78 [0.63-0.93], p<0.001). In regional MPA meta-analyses, effect sizes ranged from 0.56 to 0.78. The difference between SchRel and controls was moderate (g = 0.44 [0.28-0.61], p<0.001). When individual MPA items were analyzed separately, fine electric hair, malformed ear, asymmetrical ear, curved 5th finger were anomalies that were shared between both schizophrenia and SchRel. Also, direct comparisons of the frequency of MPAs in schizophrenia and their relatives were conducted. Additionally, the early age of onset of schizophrenia was associated with mouth anomalies (Z=-2.13, p = 0.03), and ear anomalies were associated with a higher percentage of males in the schizophrenia group (Z = 2.64, p = 0.008). These findings support the notion that different MPAs might be associated with genetic susceptibility as well as vulnerability to developing full-blown psychosis. Studies investigating clinical and neurobiological correlates of MPAs in schizophrenia might be helpful in characterizing subtypes of psychoses that are associated with different developmental processes.
Insights
Minor physical anomalies (MPAs) are linked to neurodevelopmental issues. This study found MPAs are more common in schizophrenia patients and their relatives, suggesting a genetic link to psychosis vulnerability.
Area of Science:
- Neuroscience
- Psychiatry
- Genetics
Background:
- Minor physical anomalies (MPAs) are subtle anatomical variations indicating early neurodevelopmental alterations.
- Schizophrenia exhibits a higher frequency of MPAs, though their distribution is heterogeneous and not exclusive to the disorder.
- MPAs may reflect distinct developmental origins and a potential genetic predisposition to psychosis.
Purpose of the Study:
- To conduct a comprehensive review and meta-analysis of minor physical anomalies (MPAs) in schizophrenia (Sch) and their first-degree relatives (SchRel).
- To investigate the association between specific MPAs, genetic susceptibility, and vulnerability to psychosis.
Main Methods:
- A meta-analysis of 52 studies published between January 1980 and October 2023.
- Comparison of MPA scores between 3780 schizophrenia patients and 3871 controls, and between 1415 SchRel and 1569 controls.
- Analysis of individual MPA items and their correlation with clinical factors like age of onset and sex.
Main Results:
- Total MPA scores were significantly elevated in schizophrenia patients (g = 0.78) and moderately increased in relatives (g = 0.44) compared to controls.
- Specific anomalies like fine electric hair, malformed/asymmetrical ears, and curved fifth finger were common in both schizophrenia patients and relatives.
- Mouth anomalies correlated with earlier schizophrenia onset, and ear anomalies with a higher male proportion in the schizophrenia group.
Conclusions:
- Findings support the hypothesis that MPAs are associated with genetic susceptibility and vulnerability to developing psychosis.
- Different MPAs may be linked to distinct developmental pathways contributing to psychosis.
- Further research into clinical and neurobiological correlates of MPAs could help subtype psychoses based on developmental processes.
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