A study to assess the magnitude of various minor physical anomalies in bipolar disorders and to compare them between bipolar disorder patients and their first degree relatives

Background: Bipolar disorder appears to be related to anatomic abnormalities in medial temporal lobe, in particular amygdale, prefrontal cortex and cerebellum. Two recent MRI findings have supported a neuro developmental etiology of bipolar disorders.Methods: It was a cross-sectional comparative hospital based study. The subjects were recruited for the study by the purposive sampling technique. The study was conducted at the Institute of Mental Health and Hospital Mathura Road Agra. The study sample consisted of 20 bipolar disorder patients diagnosed as per ICD-10 DCR (WHO, 1992) criteria, 20 first degree relatives, one for each patient. Total sample size is 40.Results: It was observed that in bipolar patients’ maximum anomalies were seen in Mouth (0.35±0.48) head (0.30±0.57) followed by anomalies of eyes (0.25±0.55) hand (0.20±0.41) and ear (0.05±0.22). It was observed that in Bipolar FDRs maximum anomalies were seen in mouth (0.20±0.04) ear (0.15±0.45) head (0.1±0.3) and then anomalies of eye and hand in equal propensity (0.05±0.22) and least anomalies in feet (0.00±0.00).Conclusions: The rate of MPAs in bipolar patients was more than their FDRs but not statically significant. Both sibling groups had fewer MPAs than the patients. When viewed within a vulnerability-stress model, the results are consistent with the theory that MPAs may reflect early, largely extra-genetic, stressful events.

A study on prevalence of minor physical anomalies in mentally retarded children in a tertiary care centre of India

Background: Paucity of studies in world literature and lack of any Indian study assessing the frequency, prevalence and severity of minor physical anomalies (MPAs) in children with mental retardation (MR) as well as their importance for prediction and timely recognition of mental insufficiency, if any.Methods: A cross-sectional observational study involving 273 mentally retarded children aged 5-18 years was conducted over a period of one year and were compared with their age and sex matched controls. Waldrop and Halverson (1971) physical anomaly scale was used to assess those MPAs.Results: In the study group, higher percentage (79.85% vs. 40.29%) of children had MPAs with a predominance of multiple MPAs in comparison to healthy children (40.29% and 0%, respectively). Higher average frequency of MPAs per child was noted in the study group (1.42) than control group (0.40). Mean Waldrop weighting score was significantly higher among mentally retarded children than their controls (3.7'0.8 versus 0.8'0.2, P<0.0001). Authors noticed a gradual and significant decrease in Waldrop score with increase in intelligence quotient (IQ) [F=175.72, P<0.001]. A significant strong negative correlation between Waldrop score and IQ level (r=-0.89, P<0.001) was also observed. Out of eighteen variables of Waldrop score, seven were found as significant in binary logistic regression model for MR. Our model can explain 37.6% to 50.1% variability of the MR.Conclusions: MPAs are more prevalent in mentally retarded children than healthy children.' A clear-cut demarcation between these two groups is possible by the frequency of anomalies and the increased strength of their expression (i.e. their weighting scores).

A study of Neurological Soft Signs and Minor Physical Anomalies in children of parents with Schizophrenia and those without Schizophrenia

Introduction: ‘Neurological soft signs (NSS)’ and ‘Minor physical anomalies (MPA)’ represent two quitedistinct markers of risk for schizophrenia that stem from genetic factors and have been studied over thepast 3 decades. The aim of the current study was to assess Neurological soft signs (NSS) and Minorphysical anomalies (MPA) in children of patients suffering from schizophrenia and compare the same tochildren having parents without any psychiatric disorders.Methodology: The study was a cross sectional study at a Private tertiary care psychiatric hospital in urbanset up. The data was collected over a period of 1 year during June 2016- June 2017. The subjects of thisstudy were children of parents suffering from schizophrenia and children of parents without anypsychiatric disorder. The control group was made up of 40 children of the same age group with parentshaving no psychiatric disorders. Following the collection of sociodemographic details using a semistructured proforma, children in both groups were assessed using the Physical and Neurological Soft signScale (PANESS) while MPAs were assessed using the Waldrop scale. The data collected was statisticallyanalyzed.Results: There was no statistically significant correlation between demographic factors like gender, age,birth order, educational status or type of delivery with neurological soft signs and minor physicalanomalies. It was found that the study group had higher score for incoordination of gait and balance;higher score for slowness in performing patterned speed of movements which included toe heel alteration,hand supination and pronation, finger succession as compared to control group along with higher scoresfor involuntary movements, excess dysrhythmia score and overflow score including mirror movements inindex group than controls. There was no statistically significant difference in lateral preference patterns ormix handedness of cases and controls. Among Minor physical anomalies, the study group also had moreanomalies in mouth like high-steeped palate and tongue anomaly, curved 5th finger of hands and big gapbetween first and second toe (sandal gap).Conclusion: NSS and MPA are important variables and biomarkers that may be assessed in patients withschizophrenia and their offspirngs.

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

Objective: To evaluate the presence of symptoms of attention deficit and hyperactivity disorder (ADHD) in intellectually gifted adults and children. Methods: 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). Results: 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). Conclusions: 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.

Somatotipo ectomórfico e hiperlaxitud articular como marcadores potenciales para la ansiedad comórbida en la esquizofrenia / Ectomorphic somatotype and joint hypermobility as potential markers for co-morbid anxiety in schizophrenia

Objetivo: Evaluar si la asociación descrita entre los trastornos de ansiedad y el síndrome de hiperlaxitud articular se mantiene en presencia de esquizofrenia y determinar su importancia clínica. Métodos: Se comparan 20 pacientes casos (10 hombres y 10 mujeres) con esquizofrenia y ansiedad comórbida y 20 pacientes de control, emparejados por sexo, con esquizofrenia sin ansiedad y diagnosticados mediante SCID-I. Se valoran las características sociodemográficas, las escalas de sintomatología positiva y negativa de la esquizofrenia (PANSS), Ansiedad Social de Liebowitz (LSAS) y Adaptación Social (SAS), el somatotipo (método Heath-Carter), las anomalías físicas menores (escala de Waldrop) y los criterios del Hospital del Mar para la hiperlaxitud articular. Resultados: No hubo diferencias significativas por sexo entre los casos y controles en cuanto a edad y características sociodemográficas (estado civil, nivel educativo y situación laboral). Los hombres con ansiedad fueron significativamente más ectomórficos (U = 20; p =0.023), más hiperlaxos (U = 21; p = 0.025) y con menos anomalías físicas menores (U = 14.5; p = 0.007) que los hombres del grupo control. Las mujeres con ansiedad fueron significativamente más ectomórficas (U = 17; p = 0.009) y más hiperlaxas (U = 19; p = 0.017). En toda la muestra, tras ajustar por edad y sexo, únicamente la hiperlaxitud articular se asocia de manera independiente con la ansiedad social (odds ratio [OR] = 1.1; intervalo de confianza [IC] del 95%: 1.02-1.2). Discusión: En los pacientes con esquizofrenia, la asociación entre hiperlaxitud articular, somatotipo ectomórfico y ansiedad comórbida parece persistir.Es un probable marcador clínico-biológico de interés.

To evaluate whether the reported link between anxiety disorders and joint hypermobility syndrome still holds in the presence of schizophrenia, and to ascertain its clinical relevance. Methods: Twenty schizophrenic case-patients (10 men and 10 women) with a comorbid anxiety disorder diagnosed by SCID-I were compared to 20 schizophrenic control-patients without anxiety, matched by gender. Socio-demographic characteristics, positive and negative symptoms of schizophrenia (PANSS), Liebowitz Social Anxiety scale (LSAS), Social Adjustment Scale (SAS), somatotype (Heath-Carter method), minor physical anomalies (Waldrop scale), and Hospital del Mar criteria for joint hypermobility were also assessed. Re-sults: There were no significant differences by gender between cases and controls in terms of age and sociodemographic characteristics (educational level, marital status and labor situation). Men displaying anxiety were significantly more ectomorphic (U = 20; p = 0.023), more hypermobile (U = 21; p = 0.025) and had fewer minor physical anomalies (U = 14.5; p = 0.007) than controls. Women with anxiety were significantly more ectomorphic (U = 17; p = 0.009) and more hypermobile (U = 19; p = 0.017) than con-trols. In the entire sample, after adjusting for age and sex, joint hypermobility was independently related to social anxiety (odds ratio [OR] = 1.1; 95%CI: 1.02-1.2). Discussion: In patients with schizophrenia, the association between JHS, ectomorphic somatotype and co-morbid anxiety seems to persist. It is a probable clinical biological marker of interest.

A Pilot Study: Association between Minor Physical Anomalies in Childhood and Future Mental Problems

OBJECTIVE: This study aims to investigate association between early recognizable minor physical abnormality (MPA) during childhood is associated with mental health problems in young adults. METHODS: In 1984, 169 preschool children in central Taiwan underwent a detailed physical examination for subtle abnormalities (MPA). Fourteen years later, the Brief Symptom Rating Scale (BSRS) and Chinese Health Questionnaire (CHQ) were used to measure specific psychiatric symptoms. RESULTS: There is an association between MPA during childhood and adult characterized with interpersonal sensitivity, anxiety, depression and paranoid mental health symptoms. CONCLUSION: The signs of childhood MPA can be easily identified and should be regarded as risk factors when predicting mental disorder. Mental health professionals should consider MPAs as important signs for possible development of emotional problems.

A Pilot Study: Association between Minor Physical Anomalies in Childhood and Future Mental Problems

OBJECTIVE: This study aims to investigate association between early recognizable minor physical abnormality (MPA) during childhood is associated with mental health problems in young adults. METHODS: In 1984, 169 preschool children in central Taiwan underwent a detailed physical examination for subtle abnormalities (MPA). Fourteen years later, the Brief Symptom Rating Scale (BSRS) and Chinese Health Questionnaire (CHQ) were used to measure specific psychiatric symptoms. RESULTS: There is an association between MPA during childhood and adult characterized with interpersonal sensitivity, anxiety, depression and paranoid mental health symptoms. CONCLUSION: The signs of childhood MPA can be easily identified and should be regarded as risk factors when predicting mental disorder. Mental health professionals should consider MPAs as important signs for possible development of emotional problems.

Anomalías físicas menores y esquizofrenia

resumen está disponible en el texto completo

Summary: The neurodevelopment hypothesis in schizophrenia is a theoretic construction that tries to explain, at least partially, the etiopatho-geny of this disease. Since Kraepelin's early descriptions it has been suggested that schizophrenia is a disease linked to the Central Nervous System structure, and vast efforts have been made to prove the existence of the biological markers of schizophrenia that include clinically distinguishable features (like dermatoglyphs and neuropsychological tests), electrophysiological, endocrine, immunologic and genetic tests, and neuroimaging studies. The Minor Physical Anomalies (MPAs) are slight anatomical deviations of an individual's external physical features, which imply neither a serious medical consequence nor an aesthetic problem. MPAs could be considered a valid biological marker in the evaluation of schizophrenia if we interpret this disease as a disorder originating in the early months of intrauterine life during the first stages of neurodevelopment. Like dermatoglyphs, the MPAs may be seen as "fossil" signs that reflect the intrauterine environment. They could be useful as an indirect measurement of an alteration of structures related to the Central Nervous System in its embryologic origin, or in nervous structures and non-neuronal epidermic and other superficial tissues derived from ectoderm, especially in skin, eyes and ears, or else with those that belong to embrionary developmental fields adjacent to brain structures, that may induce cranial-facial alterations. This developmental fields theory explains the existence of a relationship between tissues or structures that do not have a common embryologic origin. After embryogenesis, they determine topographic zones of development, and the presence of a defect could affect a single structure (monotopic defect), but those that appear earlier would promote several areas in the body (polytopic field defects). Due to these complex interactions, it is not easy to correlate the intensity of the damage with the moment in which this occurred. A minor malformation could even have been generated in blastogenesis and could therefore be related to associated defects. It is not always a 'benign' abnormality. This observation is important if we consider that several genetic syndromes exist that present specific malformations. These are strongly associated with a high risk to develop schizophrenia (around 25 fold), such as the 22qll.2 deletion (velocardiofacial syndrome, DiGeorge syndrome and other variations). There has been speculation around a so-called "congenital" schizophrenia subtype on the basis of an association with several clinical features such as gender, age of onset, positive or negative symptoms, brain abnormalities that show up in MRI scans, additional cognitive impairment and a worse evolution and prognosis in which the neurodevelopmental disturbances factor would have a widespread significance in the etiopathogeny of the disease. The Waldrop's Scale for Minor Physical Anomalies has been the most used tool to measure these abnormalities and has been subject to numerous modifications. Even though it is considered a reliable instrument, with a good internal consistence, numerous limitations in results interpretation have been noted, most of them derived of limited inter-evaluator reliability, lack of consensus about the relative importance of each item and the extensive interracial variability in the presentation of MPAs. In the 1980's, the neurodevelopmental theory emerged as an explanation of the origin of schizophrenia and a number of investigations have been carried out, to measure MPAs and other biologic markers of neurodevelopment (like dermatoglyphs). Most studies have shown a greater prevalence of MPAs in schizophrenic patients compared to control groups, as it has been observed in other disorders like mental retardation, autism, attention-deficit disorder and violent behavior in adolescence. Nevertheless, there are only a few consistent data sets that correlate with an increased number of MPAs, and amongst them we can point out a positive correlation with male gender, neuroimaging brain alterations, genetic charge for schizophrenia, more frequent obstetric complications and a more perceptible cognitive impairment. Additionally, other investigations draw attention to a positive correlation with a lower premorbid adjustment, an earlier beginning of the disease, a predominance of negative symptoms and a larger tendency to develop late dyskinesia, although these data show contradictory results. Even though the diverse ethnic groups' phenotypic variants tend to limit the interpretation of each minor physical anomaly, most investigations have found a prevalence of these abnormalities in the cranial-facial area, most of them in ears and mouth, although the peripheral zones are not unaffected. When we consider those studies, we notice that the diversity of data is predominant. We can explain this if we bear in mind that some of the MPAs can be normal phenotypic features in some ethnic groups, or frequent enough to be a normal variant without discriminative meaning. We must also take into account that different scales have been used for the measurements. For this specific problem it has been suggested to use anthropometric scales, similar to those used by cranial-facial surgeons. The variability of the presentation of MPAs and the phenotypic variations compel us to conduct local investigations focused on determining which variants are outstanding or not in any ethnic group in relation to neurodevelopment deviations. We can conclude than MPAs might be a biological marker that can help us to characterize at least a subgroup of clinically recognizable schizophrenic patients, or those that have predisposition to present some clinical features, but it is necessary to develop an objective evaluation tool that ideally would incorporate anthropometric measurements in order to compare these MPAs with the phenotypic variants in each ethnic group. It is necessary to design and carry out genetic studies (first among first and second-degree relatives and afterwards in bigger populations and also comparative studies with the general population) with the aim to distinguish between genetically-determined variants and those resulting from environmental factors, as well as establishing the interaction of both types of variants. The existence of a clinically recognizable subtype of schizophrenia on which we can rely on as an etiopathogeny hypothesis is an appreciable area that is still under discussion and which deserves further investigation efforts. This could have implications on our approach to nosologic, diagnostic and even prognostic features of this heterogeneous disorder. Such investigation could help us to reformulate the schizophrenia notion itself.

Minor Physical Anomalies in Patients with Schizophrenia

OBJECT AND METHOD: Minor physical anomalies(MPAs) are frequently seen in patients with schizophrenia. MPAs are considered to arise from the anomalous development of ectoderm-originated tissues in the developing fetus. Since the central nervous system originates from ectoderm, MPAs can be regarded as externally observable and objective indicators of the aberrant development which might have taken place in the central nervous system. To investigate whether MPAs are more frequent in schizophrenic patients, the frequencies of MPAs were compared between schizophrenic patients and normal controls. Total 245 schizophrenic patients diagnosed with DSM-IV(male : 158, female : 87), and 418 normal control subjects(male : 216, female : 202) were included in this study. The MPAs were measured using the modified Waldrop scale with fifteen items in six bodily regions; head, eye, ear, mouth, hand, and foot. RESULT: The total scores of Waldrop scale were 4.40+/-1.93(mean+/-standard deviation) in patients and 3.43+/- 1.68 in controls for females, and for males, 4.58+/-1.75 in patients and 4.28+/-1.59 in controls. For females, the excess of MPAs in schizophrenic patients was statistically significant(t-test : p<0.001). For males, schizophrenic patients also showed more MPAs than normal controls, but this tendency did not reach statistical significance (t-test : p=0.094). When the modified Waldrop total scores excluding head circumference were compared, the total scores in schizophrenic patients were significantly higher for both male and female subjects(t-test : male p<0.001, female p=0.001). The individual anomaly items included in Waldrop scale were also investigated. The items of epicanthus, hypertelorism, malformed ears, syndactylia were significantly more frequent in schizophrenic patients. In contrast, the items of adherent ear lobes, asymmetric ears, furrowed tongue, curved fifth finger, single palmar crease and big gap between toes did not show any differences in frequency between schizophrenic patients and normal controls. Since a lot of statistical analyses showed different results between male and female subjects, it seems to be necessary to consider gender as an important controlling variable for the analysis, however only the item of head circumference showed statistically significant gender-related difference according to log-linear analysis. CONCLUSION: With a relatively large sample size, the frequencies of MPAs enlisted in Waldrop scale were compared between schizophrenic patients and normal controls in this study. MPAs were more frequently seen in schizophrenic patients and, especially, several specific items in the Waldrop scale showed prominent excess in schizophrenic patients. Although definite conclusions cannot be drawn due to the inherent limitation of the study using Waldrop scale, these results seem to support the possibility that aberrant neurodevelopmental process might be involved in the pathogenesis of schizophrenia in some of the patients.

Clinical Features in Adult Schizophrenics with Minor Physical Anomalies / 대한정신약물학회지

OBJECTIVE: There have been several evidences that the central nervous system deflect is one of the etiologic factor in schizophrenia and minor physical anomalies can reflect these deflects indirectly. These central nervous deflects are particularly related to the negative symptoms of schizophrenia. In this study, we examined the relationship between minor physical anomalies and psychopathology in schizophrenia. METHODS: Forty-four patients(22 males, 22 females) satisfying the DSM-IV criteria for schizophrenia were measured for minor physical anomalies by using Waldrop Anomaly Scale(WS) and we used Positive and Negative Syndrome Scale(PANSS), Ulmann-Giovannoni Process-Reactive Questionnaire(PRQ), and Phillips Premorbid Adjustment Scale(PAS) for evaluating psychopathology and clinical variables. RESULTS: Schizophrenic patients had a higher group mean WS score than that found in the control group. Score of WS was correlated with PANSS and PAS score positively, and with PRQ score negatively. CONCLUSION: This study shows minor physical anomalies are associated with clinical variables with regard to symptom severity, poor premorbid adjustment and process of illness in at least some schizophrenics.