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Cross-diagnostic evaluation of minor physical anomalies in psychiatric disorders
Vanteemar S Sreeraj1, Joan C Puzhakkal1, Bharath Holla1
1Department of Psychiatry, National Institute for Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Background:
Minor physical anomalies (MPA) are markers of impaired neurodevelopment during the prenatal stage. Assessing MPA across psychiatric disorders may help understand their shared nature. In addition, MPA in family members would indicate a shared liability and endophenotype potential. We examined familial aggregation of MPA and their role as transdiagnostic and disorder-specific markers of 5 major psychiatric/neuropsychiatric conditions (schizophrenia, bipolar disorder, substance dependence, obsessive-compulsive disorder, and Alzheimer's dementia).
Methods:
Modified Waldrop's MPA scale was applied on 1321 individuals from 439 transdiagnostic multiplex families and 125 healthy population controls (HC). Stage of fetal development (morphogenetic/phenogenetic)- and anatomical location (craniofacial/peripheral)-based sub-scores were calculated. Familiality and endophenotypic potential of MPA were analyzed with serial negative binomial mixed-effect regression. Cross-diagnostic differences and the effect of family history density (FHD) of each diagnosis on MPA were assessed. Mixed-effects Cox models estimated the influence of MPA on age-at-onset of illness (AAO).
Results:
MPA were found to be heritable in families with psychiatric disorders, with a familiality of 0.52. MPA were higher in psychotic disorders after controlling for effects of sex and intrafamilial correlation. Morphogenetic variant MPA was noted to be lower in dementia in comparison to HC. FHD of schizophrenia and bipolar disorder predicted higher, and that of dementia and substance dependence predicted lower MPA. MPA brought forward the AAO [HR:1.07 (1.03-1.11)], and this was more apparent in psychotic disorders.
Conclusion:
MPA are transmissible in families, are specifically related to the risk of developing psychoses, and predict an earlier age at onset. Neurodevelopmentally informed classification of MPA has the potential to enhance the etiopathogenic and translational understanding of psychiatric disorders.
Insights
Minor physical anomalies (MPA) are heritable and indicate shared liability for psychiatric disorders. These neurodevelopmental markers are linked to psychosis risk and earlier illness onset, aiding in understanding psychiatric conditions.
Area of Science:
- Neurodevelopmental disorders
- Psychiatric genetics
- Medical genetics
Background:
- Minor physical anomalies (MPA) serve as prenatal markers for neurodevelopmental impairment.
- Assessing MPA across psychiatric disorders may reveal shared underlying etiologies.
- Familial aggregation of MPA suggests shared liability and potential as endophenotypes.
Purpose of the Study:
- To examine the familial aggregation of MPA.
- To investigate MPA as transdiagnostic and disorder-specific markers for five major psychiatric/neuropsychiatric conditions.
- To explore the relationship between MPA and age-at-onset of illness.
Main Methods:
- Utilized the Modified Waldrop's MPA scale on 1321 individuals from 439 multiplex families and 125 healthy controls.
- Calculated MPA sub-scores based on developmental stage and anatomical location.
- Employed regression models to analyze familiality, endophenotypic potential, diagnostic effects, and influence on age-at-onset.
Main Results:
- MPA demonstrated heritability (0.52) in psychiatric disorder families.
- MPA were elevated in psychotic disorders and influenced by family history density of specific conditions.
- MPA were associated with an earlier age-at-onset, particularly in psychotic disorders.
Conclusions:
- MPA are heritable and transmissible, serving as potential endophenotypes for psychiatric disorders.
- MPA are specifically linked to psychosis risk and predict an earlier onset of illness.
- A neurodevelopmental approach to MPA classification can advance understanding of psychiatric disorder pathogenesis.
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