Search

Background: Down syndrome, most common chromosomal abnormality leading to intellectual disability is being diagnosed by Karyotyping. Due to cost constraints, parents couldn't afford to do Karyotyping which causes delay in individual and family interventions. Introduction: Down syndrome has characteristic morphological features. The minor physical anomaly (MPA) are insults which occur in utero during embryonic development mostly in first and early second trimester and persists throughout life. Material and Methods: 70 karyotyping confirmed cases of Down syndrome (DS), 70 other causes of intellectual disabilities (Other ID) and 70 age matched normal children and adolescents (Average) have been incorporated in the study. The Modified Waldrop's scale (Ismail's 41 item scale) have been applied. Demographic comparison and Decision tree algorithm approach have been analysed by SPSS 25 version. Results and Discussion: The paternal age of childbirth, maternal age of childbirth, maternal age of marriage (P < 0.001), income (P = 0.026) variables are statistically significant in Down's syndrome group in comparison to other two groups whereas age and birth order are not statistically significant. DS group has more MPA (m = 17.04, SD = 5.462), than other ID (m = 5.93, SD = 2.628) and Average group (m = 1.59, SD = 1.378). Big sandal gap, high arched palate and epicanthus are most common three minor anomalies found in Down syndrome. Region wise scoring shows high significance (P < 0.001) in Global head, eyes, ears, mouth, hands and feet in Down syndrome group. The four anomalies; epicanthus, telecanthus, high-arched palate, and curved fifth finger) thus can be grouped as differentiating anomalies. When clinodactyly (item 27) and high arched palate (item 21) are present together or epicanthus (item 08) and telecanthus (item 09) present together sensitivity of diagnosing the case as Down syndrome is 0.945 with negative predictive value 0.979. Conclusion: The simian crease which is being considered as common physical anomaly is not specific for Down syndrome. The large scale study is required to extrapolate the above findings but surely it opens new avenue of research. [ABSTRACT FROM AUTHOR]

Abstract: Individuals with autism have higher rates of minor physical anomalies (MPAs) than neurotypical persons. Minor physical anomalies are slight morphological deviations typically harmless and without cosmetic or medical importance to the individual but indicative of an underlying neurodevelopmental disorder. In genetic autism research the utilization of MPAs has been recommended. In the present study the prevalence of pes planus or flatfoot in adults with ASD compared to age and sex matched neurotypical adults was investigated with two different methods. A photograph of the feet was obtained from underneath while the subjects were standing on a glass table. From this imprint calculations were made. In addition the medial longitudinal foot arch was measured with a Verniper caliper. The ultimate purpose of this study was to evaluate if flatfoot deformity could be utilized as an MPA in ASD. In this cohort of nearly one hundred adults no one fulfilled the predefined criteria of a flatfoot diagnosis but a lower foot arch height was shown in individuals with ASD compared to controls, confirming the clinical impression. [Copyright &y& Elsevier]

Abstract: Studies have shown that minor physical anomalies (MPAs) may be associated with schizophrenia. However, it remains unclear whether any items of MPAs are more associated with schizophrenia than the others. We aimed to examine which specific MPAs are more associated with schizophrenia than others. A total of 154 patients with schizophrenia and 152 healthy controls were assessed using candidate MPAs items along with items from the Waldrop scale. Significant differences were found between the patients and controls in inner canthal distance, epicanthus, adherent ear lobe, cuspidal ear and length difference from section index to ring finger (2D:4D length difference) as well as gap between the first and the second toes. These six items were selected by the logistic regression model, which correctly classified 89.0% of patients with schizophrenia (sensitivity) and 96.7% of healthy controls (specificity). The overall classification success rate was 92.8%. MPAs are associated with neurodevelopment, especially 2D:4D associated with cerebral lateralisation. Hence, our present findings support that it is necessary to evaluate MPAs beyond the Waldrop scale, as some item, such as 2D:4D length difference may reflect the more detailed aberrant neurodevelopment of schizophrenia. [Copyright &y& Elsevier]

Objective: The minor physical anomaly (MPA) is believed to reflect abnormal development of the CNS. The aim is to find incidence of MPA and its behavioral correlates in Down syndrome and to compare these findings with the other causes of intellectual disability and normal population. Materials and Methods: One-hundred and forty intellectually disabled people attending a tertiary care set-up and from various NGOs are included in the study. The age-matched group from normal population was also studied for comparison. MPA are assessed by using Modified Waldrop scale and behavioral abnormality by Diagnostic assessment scale for severely handicapped (DASH II scale). Results: The Down syndrome group had significantly more MPA than other two groups and most of the MPA is situated in the global head region. There is strong correlation (P < 0.001) between the various grouped items of Modified Waldrop scale. Depression subscale is correlated with anomalies in the hands (P < 0.001), feet and Waldrop total items (P < 0.005). Mania item of DASH II scale is related with anomalies around the eyes (P < 0.001). Self-injurious behavior and total Waldrop score is negatively correlated with global head. Conclusion: Down syndrome group has significantly more MPA and a pattern of correlation between MPA and behavioral abnormalities exists which necessitates a large-scale study. [ABSTRACT FROM AUTHOR]

Abstract: The present study explored minor physical anomaly items relevant to schizophrenia in order to establish a scale that can distinguish schizophrenia from controls using newly identified items along with items from the refined Waldrop scale. Seven items were significantly more frequent among schizophrenia patients (N =218) than controls (N =226). Among these seven items, two novel features, strabismus and ‘cuspidal ear’ showed markedly different prevalence rates between schizophrenia and control groups. A six-item scale, including the newly identified strabismus and cuspidal ear, was selected for most accurately discriminating patients with schizophrenia from controls. This scale correctly classified 59.6% of patients and 78.9% of control subjects. This new scale is procedurally more exacting and quantitative, and more relevant to schizophrenia than the original Waldrop scale. The validity of this scale should be sound since it was tested on a larger number of cohorts than used in previous research. Our scale can be used as a biomarker for predicting risk for future development of schizophrenia. The scale may also facilitate the identification of schizophrenia susceptibility genetic/environmental factors by stratifying etiologically heterogeneous patients according to physical abnormalities. [Copyright &y& Elsevier]

Abstract: The catechol-O-methyl transferase (COMT) gene has been a promising candidate in genetic research on schizophrenia because of its function in dopamine metabolism and its location on chromosome 22q11.2, which may be implicated in both schizophrenia and velocardiofacial syndrome (VCFS). To explore the possible genetic contribution of COMT to the development of schizophrenia, we focused on the subgroup of patients with schizophrenia characterized by minor physical anomalies as a phenotype and the 158 Val/Met polymorphism as a genotype. Since some physical anomalies are found in both schizophrenia and VCFS, schizophrenia patients with minor physical anomalies could represent the putative subgroup of schizophrenia linked to a disruption in neurodevelopment. Genotyping for the 158 Val/Met (472 G>A) polymorphism in the COMT gene was done for 239 patients with schizophrenia and 248 normal controls. Our analysis did not yield any significant between-group differences in terms of either allele or genotype frequency. We also could not find any association between the COMT gene and the schizophrenia subgroup with minor physical anomalies, although there was a significant difference in Waldrop total scores between the patients with schizophrenia and the normal controls. Analyses of subgroups based on other clinical variables also did not reveal significant differences. Overall, this study does not support the hypothesis that the 158 Val/Met polymorphism in the COMT gene is associated with schizophrenia in Koreans. [Copyright &y& Elsevier]

Objectives: (1) To test the hypothesis that minor physical anomalies are increased in patients with schizophrenia and (2) to investigate differences in the prevalence of minor physical anomalies in patients with familial and sporadic schizophrenia and their first degree relatives.Methods: A weighted Waldrop assessment was carried out on 214 subjects in five groups: schizophrenic patients from multiply affected families; first degree relatives of these familial schizophrenic patients; sporadic schizophrenic patients; first degree relatives of these sporadic schizophrenic patients, and normal controls. Broad and narrow criteria for abnormality were defined based on the distribution of minor physical anomalies in the control group.Results: (1) The total schizophrenic group did not have a significant increase in minor physical anomalies using a narrow criterion of abnormality, but did when a broader criterion was used. (2) A significant increase in the proportion of subjects with an abnormally high number of minor physical abnormalities was shown in the group of sporadic schizophrenic patients (uncorrected p<0.01). Separate analyses for males and females showed a significant increase in the male sporadic group (uncorrected p<0.05), and a smaller non-significant increase in the female sporadic group. Neither the familial schizophrenic group nor either group of first degree relatives showed any significant increases in the proportion of patients with high abnormality scores.Conclusion: This work supports prenatal developmental abnormality as a mechanism for sporadic, but not familial, schizophrenia. [ABSTRACT FROM AUTHOR]