Network Analysis-Based Disentanglement of the Symptom Heterogeneity in Asian Patients with Schizophrenia: Findings from the Research on Asian Psychotropic Prescription Patterns for Antipsychotics

The symptom heterogeneity of schizophrenia is consistent with Wittgenstein’s analogy of a language game. From the perspective of precision medicine, this study aimed to estimate the symptom presentation and identify the psychonectome in Asian patients, using data obtained from the Research on Asian Psychotropic Prescription Patterns for Antipsychotics. We constructed a network structure of the Brief Psychiatric Rating Scale (BPRS) items in 1438 Asian patients with schizophrenia. Furthermore, all the BPRS items were considered to be an ordered categorical variable ranging in value from 1–7. Motor retardation was situated most centrally within the BPRS network structure, followed by depressive mood and unusual thought content. Contrastingly, hallucinatory behavior was situated least centrally within the network structure. Using a community detection algorithm, the BPRS items were organized into positive, negative, and general symptom clusters. Overall, DSM symptoms were not more central than non-DSM symptoms within the symptom network of Asian patients with schizophrenia. Thus, motor retardation, which results from the unmet needs associated with current antipsychotic medications for schizophrenia, may be a tailored treatment target for Asian patients with schizophrenia. Based on these findings, targeting non-dopamine systems (glutamate, γ-aminobutyric acid) may represent an effective strategy with respect to precision medicine for psychosis.

A COMPARATIVE STUDY OF PHENOMENOLOGY BETWEEN EARLY ONSET AND LATE ONSET PSYCHOSIS

Introduction: Phenomenology is the study of subjective experience. Psychiatric diagnoses are based on cross-sectional psychopathological features, for example, the presence of rst-rank symptoms in the case of schizophrenia. Phenomenological investigation focuses on the form of experience, i.e. the way in which the content is experienced, while the content itself is of secondary importance. This study was conducted to investigate the subtle differences between early-onset group (onset before 18 years of age) and late onset (onset after age of 40 years). Aim And Objectives: To study the socio-demographic prole and phenomenology of early onset psychosis and late onset psychosis compare them based on the variables studied. It is a cross sectional observational Materials And Methods: study carried out in the Department of Psychiatry, Gauhati Medical College and Hospital during the period of June 2018- May 2019. A semi structured, self designed proforma has been used to collect the socio-demographic data and personal details of the patients and their treatment history. The ICD-10 Classication of Mental and Behavioural Disorders, WHO, 1992, Brief Psychiatric Rating Scale (BPRS) Version 4.0, Modied Kuppuswamy Socio-economic status scale were used along with. All the data that was derived from the study were analyzed by using the software IBM SPSS 21.0. Observations And Results: Mean age of presentation in early onset psychosis is 19.22 years with Standard Deviation ±5.69. Mean age of presentation in early onset psychosis is 54.5 years with Standard Deviation ±11.9. Signicantly higher ratio of male was noted in early onset group and higher ratio of female was noted in that of the late onset group. Somatic concern, anxiety, depression and suspiciousness was signicantly more in late onset psychosis. In comparison to the group of late onset psychosis, self-neglect, blunted affect, emotional withdrawn, motor retardation, motor hyperactivity, mannerisms and posturing were signicantly more in early-onset psychosis. Major distinction was noted in the Conclusion: distribution of delusional disorders and acute and transient psychotic disorders. Age of onset was skewed to late adolescence with more number of male patients. Late onset psychosis group had more uneducated patients with considerable proportion of adults left unmarried in the late onset group. Late onset psychosis group shows predominance of somatic concern, anxiety, depression and suspiciousness in contrast to early onset psychosis group which shows predominance of motor hyperactivity, self-neglect, blunted affect, motor retardation, mannerisms and posturing

Imaging Findings of Septooptic Dysplasia and Joubert's Syndrome in A Patient with Mixed Gonadal Dysgenesis: A New Coexistence?

Ambiguous genitalia is a common feature in most disorders of sexual development. These disorders can be evaluated within three groups: sex chromosome disorders, 46,XY disorders, and 46,XX disorders. Except for Turner's syndrome, these anomalies are not related to neurological developmental anomalies. A 6-month-old patient presenting with ambiguous genitalia had developmental and motor retardation with nystagmus. In karyotype analysis, 45,X/46,XY sequences were found, compatible with mixed gonadal dysgenesis (GD). Laboratory findings were normal except for low serum total testosterone level. The uterus and left adnexal structures were seen in imaging. There were no gonads in the labial/scrotal regions. Septooptic dysplasia (SOD) and Joubert's syndrome (JS) were detected in cranial magnetic resonance imaging. This presentation reports rare association of SOD and JS in a child with mixed GD.

A case of congenital Rett variant in a Chinese patient caused by a FOXG1 mutation

ABSTRACT Rett syndrome (RTT) is a severe progressive neurodevelopmental disease characterized by psychomotor regression. The FOXG1 gene is one of the pathogenic genes associated with the congenital Rett variant, which is less studied. Only a few Chinese patients with FOXG1 mutation have been reported. In this study, we describe a Chinese female patient with congenital Rett variant who presented with psycho-motor retardation, developmental regression, microcephaly, seizure, stereotypic hand movement and hypotonia. Targeted high-throughput sequencing was conducted, and a heterozygous FOXG1 mutation [NM_005249.4: c.506dupG (P.G169Gfs* 286)] was identified. It was a frameshift mutation resulting in alteration of the reading frames downstream of the mutation. SIMILAR CASES PUBLISHED: 10. CONFLICT OF INTEREST: None.

Paediatric Hypophosphatasia in Real-Life Clinical Practise.

Objective of the Paper: to describe a clinical case of paediatric hypophosphatasia (HPP) and identify clinical signs, most characteristic of the paediatric HPP form. Key Points. HPP is an congenital rickets-like disease caused by reduced activity of tissue-nonspecific alkaline phosphatase (ALP). According to the time of manifestation, there are perinatal, infant, paediatric, and adult HPPs. The article describes a clinical case of paediatric HPP in a 3.5-year old boy. HPP was diagnosed due to reduced ALP and characteristic X-ray findings. The diagnosis was confirmed with DNA testing: compound heterozygous mutation in с.571 G>A/с.144_148dup of ALPL was found. Conclusion. Typical findings in paediatric HPP are growth retardation and muscular hypotonia, motor retardation; gait disturbances, myalgia, marked fatigue causing limited period of walking; rachitic deformations, premature loss of milk teeth with unchanged roots, respiratory disturbances, and frequent bronchopulmonary disorders. Keywords: hypophosphatasia, children, alkaline phosphatase.

Physiotherapeutic stimulation in infants with Down syndrome to promote crawling

Introduction: Down syndrome (DS) is a genetic disorder characterized mainly by ligament laxity and hypotonia. Infants with this syndrome have substantial motor retardation also with crawling. To reach this motor milestone, postural control and head and neck control in the prone position are necessary. Seeking to avoid atypical muscular synergies and facilitate the execution of functional activities, the Bobath Concept aims to stimulate weight transfers, promoting motor acquisitions in the prone, supine, sitting and standing positions. Objective: To evaluate and compare crawling before and after the intervention through the Bobath Concept method in infants with DS. Method: A longitudinal, prospective, evaluative and interventional study was carried out. The sample was composed of 4 infants with DS, aged 7 to 24 months. There were three stages of treatment: evaluation in accordance with the Alberta Infant Motor Scale (AIMS); short term intervention by the Bobath Concept; and re-evaluation using the same scale. Results: According to statistical analysis, there was no significant difference between pre- and post-treatment (t -3.1705, p=0.0504). However, the results obtained by evaluation and reevaluation, showed progress in infants’ activity, the greatest progress being in the prone position. Infant 4 had the most satisfactory result, in percentage, as much as in the prone position (evolving 9.5%), as in general (evolving 22.4%). Conclusion: Infants submitted to intervention with the Bobath Concept obtained evolution in motor development, when comparing before and after therapy.

Antipsychotic Overdosing and Polypharmacy in Schizophrenic Delinquents Explored

A logistic regression model for 289 cases of schizophrenic offenders in a Swiss forensic hospital between 1995 and 2016 revealed the following factors for above average levels of antipsychotic overdosing and polypharmacy: Odds for overdosing increased in absence of a personality disorder (237%), for each point increase in emotional withdrawal (63.5%) and motor retardation (71.7%), and decreased for poor rapport (42.3%) recorded at admission. Odds for polypharmacy increased with complaints about physicians (157%), for each point increase in IQ (3.6%; range = 65–131, M = 92, SD = 14), reduction of the security level of the ward (36.8%; four levels), and for each point increase in poor attention (27.6%) at admission. It decreased with each previous conviction (10.9%; range = 1–21, M = 3, SD = 2), breaking of rules (46.4%) and the administration of compulsory measures (55.7%) on the ward, a poor legal prognosis (29.4%, four levels), and each point increase in grandiosity (40.3%), passive social withdrawal (42.3%), and depressive symptoms (38.7%) at admission.

Mood versus energy/activity symptoms in bipolar disorder: which cluster of Hamilton Depression Rating Scale better distinguishes between mania, depression, and euthymia?

Introduction Although bipolar disorder (BD) is traditionally included among mood disorders, some authors believe that changes in energy and motor activity, rather than mood changes, represent the true cardinal symptoms in mania and depression. The aim of the current study was to identify which cluster of the Hamilton Depression Rating Scale (HAM-D) better distinguishes between mania, depression and euthymia. Method A group of 106 patients with BD were followed for 13 years and repeatedly assessed with the HAM-D as well as with other clinical scales. To perform a comparison, HAM-D items were classified according to clinical criteria into three clusters: energy/activity symptoms, mood symptoms, and other symptoms. Item response theory (IRT) analyses were performed to provide a test information curve for those three clusters. We measured the prevalence of one cluster of symptoms over the other two throughout the latent trait. Results Considering HAM-D items individually, the IRT analysis revealed that there was a mixture of mood and energy/activity symptoms among the most discriminative items, both in depression and in euthymia. However, in mania, only energy/activity symptoms – i.e., general somatic symptoms and retardation – were among the most informative items. Considering the classification of items, both in depression as in mania, the energy/activity cluster was more informative than the mood cluster according to the IRT analysis. Conclusion Our data reinforce the view of hyperactivity and motor retardation as cardinal changes of mania and depression, respectively.

Middle interhemispheric variant of holoprosencephaly in an asymptomatic adult

Middle interhemispheric variant of holoprosencephaly is an uncommon subtype of holoprosencephaly which is characterized by a midline connection of the two cerebral hemispheres in the posterior frontal and parietal regions with the separation of the anterior frontal and occipital lobes. It usually presents in early childhood with facial dysmorphism, seizures, motor dysfunction and mental–motor retardation. We herein present an unusual case of middle interhemispheric variant of holoprosencephaly which was asymptomatic and incidentally found in adulthood.