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25 years into research with the Méhes Scale, a comprehensive scale of modern dysmorphology
Dalma Tényi1, Györgyi Csábi2, József Janszky1
1Department of Neurology, Medical School, Clinical Center, University of Pécs, Pécs, Hungary.
Abstract:
It has been recognized that subtle, cosmetically insignificant anomalies tend to occur cumulatively in diseases with neurodevelopmental origin. These visible signs of morphogenesis errors are called minor physical anomalies (MPAs), serving as sensitive external markers of abnormal neurodevelopment. After the introduction of the Waldrop Scale, the studies conducted on MPAs in diseases with neurodevelopmental origin gave conflicting results. It has been debated that this discrepancy can be - at least partly - attributed to the use of the Waldrop Scale. Understanding the need of a comprehensive scale of MPAs that also differentiates according to the time of development, Hungarian pediatrician professor of University of Pécs, Károly Méhes developed a scale with 57 items, the only scale differentiating minor malformations from phenogenetic variants. With the use of the Méhes Scale, our research group has been investigating the role of abnormal neurodevelopment in different neuropsychiatric and neurologic disorders since 1997. 25 years into our research, in this review we summarize the results of our 18 research articles on MPAs in different diseases. We have found an increased number of MPAs, especially in the head and mouth region, in patients with schizophrenia, bipolar disorder, Tourette syndrome, autism and many epilepsy syndromes, fortifying the role of abnormal neurodevelopment in these diseases. Moreover, an increased number of MPAs was detected among the first-degree relatives of patients with schizophrenia and bipolar I disorder, supporting the hypothesis about MPAs being endophenotypic trait markers.
Insights
Minor physical anomalies (MPAs) are external markers of abnormal neurodevelopment. Research shows increased MPAs in various neuropsychiatric disorders, suggesting their role in these conditions and as potential trait markers in relatives.
Area of Science:
- Neurodevelopmental Biology
- Medical Genetics
- Psychiatry
Background:
- Minor physical anomalies (MPAs) are subtle external markers of abnormal neurodevelopment.
- Previous studies using the Waldrop Scale yielded conflicting results regarding MPAs in neurodevelopmental disorders.
- A need existed for a comprehensive MPA scale differentiating malformations from variants.
Purpose of the Study:
- To review 25 years of research utilizing the Méhes Scale to investigate MPAs in neuropsychiatric and neurologic disorders.
- To summarize findings on the association between MPAs and specific neurodevelopmental conditions.
- To explore the potential of MPAs as endophenotypic trait markers.
Main Methods:
- Utilized the 57-item Méhes Scale, which differentiates minor malformations from phenogenetic variants.
- Conducted research since 1997 on patients with schizophrenia, bipolar disorder, Tourette syndrome, autism, and epilepsy syndromes.
- Analyzed MPAs in first-degree relatives of patients with schizophrenia and bipolar I disorder.
Main Results:
- An increased number of MPAs, particularly in the head and mouth regions, were observed in patients with schizophrenia, bipolar disorder, Tourette syndrome, autism, and epilepsy syndromes.
- Elevated MPAs were also detected in first-degree relatives of patients with schizophrenia and bipolar I disorder.
- Findings reinforce the link between abnormal neurodevelopment and these disorders.
Conclusions:
- The Méhes Scale has been instrumental in clarifying the role of MPAs in neurodevelopmental disorders.
- Increased MPAs in patients and their relatives support the hypothesis of MPAs as endophenotypic trait markers.
- Abnormal neurodevelopment is significantly implicated in the pathogenesis of various neuropsychiatric conditions.
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