Waldrop Scale Research Articles

Attention Deficit Hyperactivity Disorder and dopamine D4 receptor (DRD4) polymorphisms in South Indian population

Objectives Four decades of research have found that Dopamine D4 Receptor (DRD4) is the major candidate gene however, few studies have supported the association between the DRD4 exon III long seven repeat allele and Attention Deficit Hyperactive Disorder (ADHD). Two Indian studies had shown there is an association between DRD4 7 repeat allele; hence, we investigated in the south Indian population. AIMS: To study the association of DRD4-EXON-3-7R long allele and minor physical anomalies with ADHD in comparison to age & sex-controlled normal subjects with no evidence of ADHD. settings and design-cross-sectional case-control study for two years at National Institute of Mental Health And NeuroSciences, Bangalore. Material and Methods 60 children with ADHD and 60 healthy children of 4-16 years of age group were recruited after informed consent. Assessed by DSMIV-TR, ADHD RS IV HOME VERSION 18 items, comorbidities by detailed interview of child and parents using Mini-International Neuropsychiatric Interview for Children & Adolescents (M.I.N.I). Kid for minor congenital anomalies modified waldrop scale & for the perinatal complications, Lewis Murray Obstetrics Complication Scales were applied. For the family history family interview for genetic study, global functioning was measured by children global assessment scale, neuropsychological tests of response inhibition test were used and blood samples was collected for genotyping. Results The genotype 2 2,2 4 ,4 4,4 5,4 7 repeat allele has shown equal distribution between cases and controls with p-value 0.492 with no significance. Conclusion There is no association between DRD4 EXON-3-7R long allele gene polymorphism and ADHD in South Indian population. DRD4 7R could be having influence on minor physical anomalies in ADHD.

Attentional Impairment and Minor Physical Anomalies in Early Onset Schizophrenia

Background : Minor physical anomalies (MPAs) are established markers of abnormal neurodevelopment that also has been postulated to lead to attentional impairments. Both these variables are studied and found in schizophrenia. We aimed to compare the neuropsychological domain of attention in patients with schizophrenia and healthy controls and correlated the findings with number of MPAs. Methods : Thirty patients with early onset schizophrenia (in remission) and thirty healthy controls were recruited. While attention was assessed using the Digit span, the Digit vigilance and the Trail Making Tests, MPAs were comprehensively assessed using the 55 item Extended Waldrop Scale. Study variables were analysed using non-parametric measures. Results : Schizophrenia patients were found to have significantly higher cranio facial and total MPAs. Attentional impairment in patients was significantly impaired as compared to controls. There was no significant correlation between MPA scores and attentional measures. Conclusions : This study supports the finding that total and specific cranio-facial MPA scores and, impaired attention are indeed illness markers in schizophrenia patients. No distinguishable association, however, was found between MPAs and attentional measures. We suggest heterogeneity in brain morphogenesis, disease and treatment influences as possible hindrances. Keywords : Schizophrenia; Neurodevelopment; Neuropsychology; Minor physical anomalies; attention.

Ectodermal disturbance in development shared by anorexia and schizophrenia may reflect neurodevelopmental abnormalities.

Minor physical abnormalities (MPA) are subtle dysmorphic features of bodily structures that have little or no impact on function. Most MPA develop during the first gestational trimester and are considered as important indicators of neuroectodermal deficiencies emerging during early brain development. A higher frequency of MPA was confirmed in schizophrenia patients and their relatives, when compared to controls. These findings are consistent with the neurodevelopmental model of schizophrenia. A neurodevelopmental component amongst other risk factors has also been recently proposed for anorexia nervosa (AN). The current study aimed to assess MPA frequency in adolescent inpatients with either schizophrenia spectrum disorders (SSD) or AN as compared to healthy controls (HC). The Waldrop Scale was used for assessing MPA. The mean MPA total score and mean head subscore was significantly higher in both test groups than in HC. There were no statistically significant differences between SSD and AN groups. The MPA profile (not frequency) was similar in all three groups. This finding is consistent both with widely acknowledged neurodevelopmental schizophrenia hypothesis as well as with more recent neurodevelopmental model of AN. Nevertheless, the findings should not be overgeneralized and further studies are warranted.

Craniofacial measures and minor physical anomalies in patients with schizophrenia in a cohort of Serbian population

Introduction/Objective. Craniofacial dysmorphology has been shown as the most prominent among physical anomalies in schizophrenia patients. The aim of the present study was to investigate the frequency of craniofacial anomalies in Serbian schizophrenia patients. Methods. A list of 27 minor physical anomalies (modified Waldrop scale) and nine ratios of craniofacial measures was used to detect the presence of craniofacial dysmorphology in 126 schizophrenia patients and 124 healthy controls. Results. Compared to the healthy subjects, schizophrenia patients had significantly higher rates of the following minor physical anomalies: fine hair, two or more hair whorls, fused eyebrows, wide nose basis, low-seated ears, high steepled and high flat palate, and furrowed tongue (most prevalent were vertical fissures and diffusely distributed fissures) with significance of p ? 0.001. The best predicting parameters for distinguishing between schizophrenics and controls were the inner canthus distance, the outer canthus distance, hair whorls (all at level p = 0.000), and high steepled palate (p ? 0.001). Conclusion. The results of the present study confirm the neurodevelopmental concept of schizophrenia, being potentially useful for further psychiatric-anthropological research. Clinical significance is reflected in the possibility of monitoring the potential mental illness in childhood through potential ectodermal markers, as well as the possibility of their comparison with the psychological profile in early adolescence.

Diagnostic algorithm of Down syndrome by minor physical anomaly.

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.

The prevalence of neurodevelopmental abnormalities among children of bipolar patients

Introduction Bipolar disorder is one of the most distinct syndromes in psychiatry and has been described in numerous cultures over the course of history. Aim of the work The aim of the current work was to study the neurodevelopmental abnormalities among children of bipolar disorder patients. Participants and methods The participants of the present study were the children of 30 patients diagnosed with bipolar disorder (I or II) according to the DSM-IV criteria. Results An overall 1.8% of children of bipolar patients had delayed motor milestones, 3.6% of them had delayed language development and 8.9% of them had nocturnal enuresis. The mean score of the Waldrop scale among children of bipolar patients was 1.16 ± 1.203, and high arched palate was the most prevalent anomaly (17 out of 56; 30.35%). As regards intelligence, 76.8% of children were of normal intelligence (between 90 and 110), 5.4% of children were dull-normal intelligence (between 80 and 89), and for the remaining children (17.9%) intelligence was not evaluated as they were younger than 4 years. No neuromotor abnormalities and neurological soft signs were observed in children of bipolar patients. Conclusion It is recommended to follow-up these children to observe any neurological soft signs that may develop in them, as well as any disorder that may develop in them later on during adulthood. However, this subject has to be further studied on a wider scale in the near future. Moreover, a controlled study should be conducted.

Attention deficit hyperactivity disorder and intellectual giftedness: a study of symptom frequency and minor physical anomalies.

To evaluate the presence of symptoms of attention deficit and hyperactivity disorder (ADHD) in intellectually gifted adults and children. Two cross-sectional studies were performed in children and adults whose intelligence quotient (IQ) had been previously evaluated using Raven's Progressive Matrices (RPM) test. Seventy-seven adults displaying IQ scores above the 98th percentile were assessed using the Adult Self-Report Scale (ASRS-18) for signs of ADHD and a modified Waldrop scale for minor physical anomalies (MPAs). Thirty-nine children (grades 1-5) exhibiting IQ scores above the 99th percentile, as well as an equally matched control group, were assessed for ADHD by teachers using the Swanson, Nolan and Pelham IV Rating Scale (SNAP-IV) as used in the NIMH Collaborative Multisite Multimodal Treatment Study of Children with Attention-Deficit/Hyperactivity Disorder (MTA-SNAP-IV). In gifted adults, the frequency of ADHD-positive cases was 37.8%, and the total MPA score was significantly associated with ADHD (p < 0.001). In children, the ADHD-positive case frequency was 15.38% in the gifted group and 7.69% in the control group (odds ratio [OR] = 2.18, p = 0.288). The high frequency of ADHD symptoms observed, both in gifted adults and in gifted (and non-gifted) children, further supports the validity of this diagnosis in this population. Furthermore, the significant association between MPAs and ADHD suggests that a neurodevelopmental condition underlies these symptoms.

Evaluation of spontaneous dense array gamma oscillatory activity and minor physical anomalies as a composite neurodevelopmental endophenotype in schizophrenia

ObjectiveMinor physical anomalies (MPAs) and gamma oscillatory activity have been proposed as associated endophenotypes in schizophrenia. Combining these endophenotypes to create a composite endophenotype may help identify those at risk for schizophrenia better. The present study aims to investigate MPAs and gamma oscillatory activity in schizophrenia patients, their unaffected first degree relatives and healthy controls and appreciate whether they can be used together as a composite endophenotype. MethodsThis was a cross sectional family study conducted at a tertiary care mental health setup. Ninety participants including schizophrenia patients, their first degree relatives and controls (thirty each) were assessed for MPAs on the Extended Waldrop Scale. All participants underwent an awake, resting 192-channel EEG recording. Spectral power and coherence in 30–100Hz gamma bands were estimated using Welch's averaged periodogram method. One-way ANOVA, chi square test were used for comparing socio-demographic-clinical variables. MANOVA supplemented by one-way ANOVAs (post hoc Tukey HSD) were done for comparison of spectral measures. Pearson's correlation, step-by-step linear discriminant functional and intra-familial correlation analysis were subsequently performed. ResultsAn endophenotype pattern of finding was found for MPAs in the craniofacial region, the total number of MPAs, spectral power in right temporal region on all bands and in the right parietal region in 50–70Hz and 70–100Hz gamma bands. The three groups were most accurately classified when MPA total score, right temporal 30–50Hz gamma power and right occipital ‘intra hemispheric’ 50–70Hz gamma coherence were considered together than when considered independently. Significant intra familial correlation was seen for MPA total score and right temporal gamma 30–50Hz power. ConclusionComposite evaluation of two developmentally linked markers i.e. MPAs and gamma spectral measures may prove useful in categorizing schizophrenia and identifying at-risk individuals.

Minor physical anomalies in adults with autism spectrum disorder and healthy controls.

Minor Physical Anomalies (MPAs) are subtle abnormalities of the head, face, and limbs, without significant cosmetic or functional impact to the individual. They are assumed to represent external markers of developmental deviations during foetal life. MPAs have been suggested to indicate severity in mental illness and constitute external markers for atypical brain development. Higher frequencies of MPAs can be found in children with autism. The aims of the present study were to examine the prevalence and patterns of MPAs in adults with autism spectrum disorder (ASD) and to investigate whether MPAs are associated with symptom severity and overall functioning. Fifty adults with ASD and intelligence within the normal range and 53 healthy controls were examined with the Waldrop scale, an instrument for assessing MPAs. Face and feet were photographed enabling blinded assessment. Significant differences between the ASD and the control group were found on the MPA total scores, and also in the craniofacial region scores. Moreover, the shape of the ears was associated with autistic traits, in the ASD group. High MPA total scores were associated with poorer functioning. The findings suggest a link between MPAs, autistic traits, and level of functioning. Assessment of MPAs may assist in the diagnostic procedure of psychiatric disorders.

Discriminating value of total minor physical anomaly score on the Waldrop scale between patients with bipolar I disorder and normal controls

Minor physical anomalies (MPAs) are slight structural aberrations indicative of abnormal neurodevelopment. Most studies of MPAs in bipolar disorder have yielded limited results. We attempted to assess the potential value of MPAs as a classifying test in the status bipolar I patients vs. normal controls. Sixty one bipolar I patients and 103 controls were evaluated for MPAs using a slightly modified version of the Waldrop scale. The specificity, sensitivity and predictive value of different total MPA (MPA-T) scores were determined. The cut-off MPA-T scores that optimally discriminated patients from controls (exhibiting the most balanced sets of sensitivity, specificity, positive and negative predictive values) were MPA-T≥4 and MPA-T≥5. These values set a “border zone” in which bipolar I patients began to prevail significantly over controls. The latter presented most frequently with MPA-T ≤3 and rarely with MPA-T ≥6. Bipolar I patients prevailed among outliers (subjects with significantly higher MPA-T scores). Our data establish MPA-T score as a reliable index in distinguishing between bipolar I patients and normal controls and are consistent with the hypothesis of abnormal neurodevelopment in bipolar disorder.

Prevalence and score of minor physical anomalies in patients with schizophrenia and their first degree relatives: A Tunisian study

Minor physical anomalies (MPAs) have been consistently reported to be more frequent in schizophrenia subjects. Limited research has been conducted on these anomalies among biological relatives of patients with schizophrenia. The aims of this study were to investigate the MPAs in a Tunisian population: subjects with schizophrenia, their healthy siblings and control subjects. This study hypothesized that the mean MPAs score would be greater in patients than controls and that siblings would have intermediate scores. Furthermore, it was hypothesized that MPAs scores would be associated with negative and disorganised symptoms of schizophrenia. MethodsWe assessed 93 subjects with schizophrenia, 59 of their healthy siblings and 71 healthy controls, matched on gender and age. MPAs were assessed through use of a standardized scale derived from the Waldrop Scale [D. Gourion, G. Viot, C. Goldberger, M. Cartier, M.C. Bourdel, M.F. Poirier, J.P. Olié, H. Lôo, M.O. Krebs, 2001. French validation of a Minor Morphologic Anomalies Scale in schizophrenic patients and their parents. Encephale 27, 143-147]. The schizophrenia psychopathology was evaluated by the Positive and Negative Syndrome Scale (PANSS), Global Assessment of Functioning (GAF) and the Clinical Global Impression-Severity (CGI-S). ResultsSubjects with schizophrenia showed significantly higher MPAs score than siblings (4.6±2.8 vs. 3.0±2.1, p<0.0001) and controls groups: 1.9±1.5 (p<0.0001). Siblings had significantly higher score than control subjects (p=0.02). MPAs were correlated negatively with age of onset of the disease, and age of first hospitalisation, and positively with number of hospitalisations. Positive correlations were found between MPAs and PANSS total score, PANSS negative sub-score and CGI-S score. CommentsResults of this study showed that MPAs are more frequent in subjects with schizophrenia and their siblings compared to control subjects. Positive correlations were found between MPAs, age of onset, severity of illness, and negative symptoms of schizophrenia, suggesting that those anomalies are correlated to severe form of schizophrenia.

Increased spontaneous gamma power and synchrony in schizophrenia patients having higher minor physical anomalies

The higher frequency of minor physical anomalies (MPAs) in schizophrenia provides morphological evidence for the neurodevelopmental theory. Abnormal gamma oscillations (>30Hz) seen in the electroencephalogram (EEG) in schizophrenia have been hypothesized to result from developmental insults. This study investigated spontaneous gamma oscillations in schizophrenia patients having higher and lower number of MPAs. Forty drug naïve/free schizophrenia patients and 20 matched healthy controls were assessed for MPAs on the Extended Waldrop Scale (EWS). All participants underwent an awake, resting 192-channel EEG recording. Spontaneous gamma spectral power and coherence were estimated in the low- (30–50Hz) and high-gamma (51–70 and 71–100Hz) bands. Significantly higher power was observed in high-MPA than healthy control group in low-gamma band over right frontal, parietal and temporal regions. Spectral power in the high-gamma band (71–100Hz) was also significantly higher in the high-MPA schizophrenia subgroup than in the healthy control group over left frontal, parietal and temporal regions. Additionally, regional intra-hemispheric and inter-hemispheric coherence in the low-gamma band was significantly higher in the high-MPA schizophrenia subgroup than on the healthy control group. This study is the first to provide evidence of increased spontaneous gamma power and synchrony in schizophrenia patients having higher MPAs, supporting the idea that it may represent a distinct subgroup of schizophrenia with a neurodevelopmental basis.

Minor physical anomalies in patients with schizophrenia in a Chinese population

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.

Anomalías físicas menores y características clínicas en pacientes con trastornos del espectro de la esquizofrenia

Minor physical anomalies are nonspecific morphologic variants generated during gestation. They are markers of events (inherited and/or acquired) related with the 'neuroprogression' of the schizophrenia spectrum disorders and may be differentially involved with their symptom profiles. The aim of the study was to explore the relationship of minor physical anomalies with positive syndrome, negative syndrome and general psychopathology in patients with schizophrenia or other functional psychoses. Cross-sectional study of patients with schizophrenia or other functional psychoses consecutively hospitalized with an acute psychotic episode. Minor physical anomalies were evaluated with the Waldrop scale and clinical characteristics of psychosis were measured with the Positive and Negative Syndrome Scale (PANSS). 41 patients with functional psychoses were evaluated: 32 (78%) with schizophrenia, 9 (21.9%) with psychotic disorder not otherwise specified. There was no relationship between the Waldrop scale score and score on the PANSS, its negative scale and its general psychopathology scale. The positive scale of the PANSS and the Waldrop scale were correlated in the whole sample (Spearman rho = 0.356; p = 0.022). In the group of patients with schizophrenia, the correlation was even greater (Spearman rho = 0.420; p = 0.017). The path from apparently premorbid stages to specific clinical pictures in patients with schizophrenia spectrum disorders is determined by the neurodevelopment, a dynamic process influenced by genetic inheritance and environmental injuries.

No Association of Functional Polymorphisms in Methlylenetetrahydrofolate Reductase and the Risk and Minor Physical Anomalies of Schizophrenia in Korean Population

Methylenetetrahydrofolate reductase (MTHFR), a critical enzyme in folate metabolism, plays an important role in DNA methylation. It has been suggested that abnormal DNA methylation contributes to the pathogenesis of schizophrenia and congenital anomalies. The previous findings regarding the genetic relationship between MTHFR and schizophrenia are controversial. This study investigated the association of the two functional polymorphisms of MTHFR, C677T and A1298C, with the risk for schizophrenia. Furthermore, we conducted an updated meta-analysis on the two polymorphisms. In addition, we investigated the relationship between the polymorphisms and minor physical anomaly (MPA), which may represent neurodevelopmental aberrations in 201 schizophrenia patients and 350 normal control subjects. There was no significant association between either of the two polymorphisms and the risk of schizophrenia (chi-square = 0.001, df = 1, P = 0.971 for C677T; chi-square = 1.319, df = 1, P = 0.251 for A1298C). However, in meta-analysis, the C677T polymorphism showed a significant association in the combined and Asian populations (OR = 1.13, P = 0.005; OR = 1.21, P = 0.011, respectively) but not in the Korean and Caucasian populations alone. Neither polymorphism was associated with MPAs measured by the Waldrop scale (chi-square = 2.513, df = 2, P = 0.285). In conclusion, the present findings suggest that in the Korean population, the MTHFR polymorphisms are unlikely to be associated with the risk for schizophrenia and neurodevelopmental abnormalities related to schizophrenia.

Correlation between physical anomaly and behavioral abnormalities in Down syndrome.

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.

Expanding the schizophrenia phenotype: a composite evaluation of neurodevelopmental markers

Minor physical anomalies (MPAs) and neurologic soft signs (NSSs) have been consistently reported to be more frequent in schizophrenia subjects and their first-degree relatives. We aimed at coassessing both these neurodevelopmental markers in neuroleptic-naive recent-onset schizophrenia (NRS) subjects in comparison to healthy control (HC) subjects to explore the predictive validity of this composite endophenotype. We administered the Modified Waldrop Scale (MWS) and the Neurological Evaluation Scale (NES) to evaluate MPAs and NSSs, respectively, in 40 NRS and 30 matched HC subjects. Schizophrenia subjects had significantly higher frequencies of MPAs and NSSs than HC. Minor physical anomaly total scores were correlated with greater severity of illness, whereas NES scores did not show any relationship with clinical variables. Schizophrenia and HC subjects were most accurately classified (82.9%) when MPAs and NSSs were considered as a composite phenotype rather than independently. Minor physical anomalies and NSSs constitute independent neurodevelopmental markers of schizophrenia and would afford greater predictive validity when used as a composite endophenotype in genetic association studies.

Minor physical anomalies in children with autism spectrum disorder

Aim To investigate the rate and topological profile of minor physical anomalies (MPAs) (prenatal errors of morphogenesis) in a group of children with Autism Spectrum Disorder (ASD), in order to better set a temporal framing of embryological factors involved in the neurodevelopmental etiology. Method A new modified Waldrop scale and a mixed approach of computerized photogrammetry and classic anthroposcopy was used to detect the presence or absence of 41 MPAs in 24 children (mean age: 7 years; sex ratio: 22M:2F) with ASD and 24 healthy comparison subjects (mean age: 7 years; sex ratio: 19M:5F) selected with DSM IV and CARS. Results We found that children with ASD presenting MPAs ( n = 23; 96%) had significantly higher rates of MPAs in four body areas (head, ears, mouth, hands); interestingly three of 41 MPAs best discriminated ASD groups from comparison subjects: abnormal head circumference, abnormal cephalic index, abnormal palate. Moreover, our results suggest that most MPAs occur predominantly after the first trimester of pregnancy. Conclusions These results support a prenatal neurodevelopmental model of the autism spectrum disorder.

A novel scale including strabismus and ‘cuspidal ear’ for distinguishing schizophrenia patients from controls using minor physical anomalies

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.

Morphological features in a Xhosa schizophrenia population.

BackgroundDemonstrating an association between physical malformation and schizophrenia could be considered supportive of a neurodevelopmental origin of schizophrenia and may offer insights into a critical period for the development of this illness. The aim of our study was to investigate whether differences in the presence of minor physical anomalies could be demonstrated between schizophrenia sufferers and normal controls in a Xhosa population with a view to identifying a means of subtyping schizophrenia for use in future genetic studies.MethodsSixty-three subjects with schizophrenia (21 sibling pairs, 1 sibship of four and a group of probands with an affected non-participating sibling (n = 17)), 81 normal controls (37 singletons and 22 sibling pairs) of Xhosa ethnicity were recruited. Each participant was then examined for minor physical anomalies using the Modified Waldrop scale. The relationship between each of the morphological features and the presence of an affected sib was examined using the Chi-squared test, followed by an intra-pair concordance analysis in the sibling pairs.ResultsGap between first and second toes was significantly more common in the affected sib pair group when compared to the non-affected sib pair group (p = 0.019) and non-affected singleton control group (p = 0.013). Concordance analysis also revealed increased concordance for this item in the affected sib pair group.ConclusionThese findings offer an intriguing possibility that in the Xhosa population, affected sib pair status may be linked to a neurodevelopmental insult during a specific period of the fetal developmental.