Abstract
BackgroundMinor physical anomalies (MPAs) have been found to be more prevalent in schizophrenia than control participants in numerous studies and may index a potential endophenotype for schizophrenia.AimTo quantitatively define the magnitude of the difference in total MPA scores between patients with schizophrenia and healthy controls; to determine the degree of manifestation in unaffected first-degree relatives compared to patients and controls; and to investigate the degree of sensitivity among individual MPA items.MethodsA systematic search was conducted on the literature pertaining to MPAs in patients with schizophrenia and unaffected relatives. Effect sizes (Cohen's d and odds ratios) and corresponding confidence intervals were combined using the Comprehensive Meta-Analysis software package.ResultsA large difference was found when examining 14 studies comprising 1207 patients with schizophrenia and 1007 healthy controls (d = 0.95, 95% CI = 0.63, 1.27). Six studies involving relatives of individuals with schizophrenia showed a medium effect size (d = 0.45, 95% CI = 0.29,0.62) between patients and relatives, but a small and non-significant effect size (d = 0.32, 95% CI = −0.08, 0.73) between relatives and controls. The majority of MPAs items showed significant odds ratios (1.26–9.86) in comparing patients and controls.ConclusionsThe findings indicate that medium effect size of MPAs have been demonstrated in patients with schizophrenia as compared to healthy controls, and to a lesser extent in unaffected relatives. These findings are consistent with the idea that MPAs may represent a putative endophenotype for schizophrenia. However, more research including first-degree family members is warranted.
Highlights
The findings indicate that medium effect size of Minor physical anomalies (MPAs) have been demonstrated in patients with schizophrenia as compared to healthy controls, and to a lesser extent in unaffected relatives
These findings are consistent with the idea that MPAs may represent a putative endophenotype for schizophrenia
The endophenotype construct represents a promising approach to facilitating investigations of schizophrenia, a disorder that is thought to be influenced by multiple genes as well as environmental factors
Summary
The endophenotype construct represents a promising approach to facilitating investigations of schizophrenia, a disorder that is thought to be influenced by multiple genes as well as environmental factors. Endophenotypes should be: (1) associated with the illness in the population, (2) heritable, (3) state-independent, (4) found in unaffected family members at a higher rate than in the general population, and (5) shown to co-segregate with the illness within families[2]. Multiple potential endophenotypes, such as specific cognitive deficits and neurological soft signs, have been examined in patients, relatives, and healthy controls [1,3]. Minor physical anomalies (MPAs) are suggested as an endophenotype on account of the findings that MPAs present more in patients than healthy controls and are state-independent [4]. Minor physical anomalies (MPAs) have been found to be more prevalent in schizophrenia than control participants in numerous studies and may index a potential endophenotype for schizophrenia
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