Schizophrenia (SCZ) is a chronic mental illness and among the most debilitating conditions encountered in medical practice. A recent landmark SCZ study of the protein-coding regions of the genome identified a causal role for ten genes and a concentration of rare variant signals in evolutionarily constrained genes1. This recent study—and most other large-scale human genetics studies—was mainly composed of individuals of European (EUR) ancestry, and the generalizability of the findings in non-EUR populations remains unclear. To address this gap, we designed a custom sequencing panel of 161 genes selected based on the current knowledge of SCZ genetics and sequenced a new cohort of 11,580 SCZ cases and 10,555 controls of diverse ancestries. Replicating earlier work, we found that cases carried a significantly higher burden of rare protein-truncating variants (PTVs) among evolutionarily constrained genes (odds ratio = 1.48; P = 5.4 × 10−6). In meta-analyses with existing datasets totaling up to 35,828 cases and 107,877 controls, this excess burden was largely consistent across five ancestral populations. Two genes (SRRM2 and AKAP11) were newly implicated as SCZ risk genes, and one gene (PCLO) was identified as shared by individuals with SCZ and those with autism. Overall, our results lend robust support to the rare allelic spectrum of the genetic architecture of SCZ being conserved across diverse human populations.

No abstract

Objectives:To find out the effectiveness of “Illness management and Recovery(IMR)” program as a group intervention for improving daily functioning of clients suffering fromsevere psychiatric illnesses.Setting:The Recovery House, a Psychiatric Rehabilitation Centerin Karachi, Pakistan. Period:Dec 2012 to Sep 2013.Methodology:Fifteen(15) patients wereenrolled in the study. They were randomly divided into two groups, one group with 7 patientsand the second with 8 patients. Informed consent was obtained from the patients and theirfamily. A semi-structured Proforma was used to record the demographic details of patients.Before Starting the IMR program, 15 points rating scale was administered on patients (pre-IMRassessment) and after 9-month program implementation, the scale was again administered(post-IMR assessment) to evaluate the effectiveness of Illness management Program as a groupintervention. After each IMR session patients received sheets to work as homework assignmentsfrom the handouts. Patients received IMR program with, supportive, educational, motivationaland cognitive behavior interventions in group and individual sessions with practitioner. Datacollected was entered into and analyzed by using statistical package for the social science –seventeenth version (SPSS 17).Results:Out of the total 15 patients, 12 (80%) were male and 3(20%) were female. Age range 15 to 67 years with mean age was 37+8.5 years. Education statusof the patients revealed that all patients were educated; 04 (26.7%) had achieved education tothe graduation level; 04 (26.7%) were matriculate; 04 (26.7%) were primary passed; and 03(20%) were educated up to intermediate level. Patients with severe psychiatric illnesses werebipolar disorder 2(13.3%) cases, personality disorder 3(20%) cases, delusional disorder 1(6.7)case, schizophrenia 8(53.3%) cases and schizoaffective 1(6.7%) cases. Total number of WMR(Wellness management and recovery) session attended by each patient ranged from 30 to 62sessions. Results in 15 areas of assessment on the rating scale before the application of illnessmanagement and recovery sessions (Pre-IMR sessions) and after the application of sessions(Post-IMR sessions).Conclusion:Illness management and recovery program is an effective toolto bring about a significant improvement in several domains of life among patients sufferingfrom severe psychiatric illnesses.

Objective: To determine the demographic details (gender, age, marital status,level of education, and occupation) of suicide attempters attending the tertiary care hospitalservices at Hyderabad, Pakistan. Study Design: Cross sectional study. Setting: Liaquat universityhospital Hyderabad and Sir Cowasjee Jahangir Institute of psychiatry (CIJP) Hyderabad.Period: Twelve months from the 1st January 2011 to 31st December 2011. Methodology:The aim of the study was. Patients with a history of attempted suicide. Two hundred (200)consecutive cases were recruited and selected according to the inclusion criteria. An informedconsent was obtained from patients for being included in the study. A specially designed semistructuredProforma was used to record demographic details of the patients. Data were enteredinto and analyzed through statistical software SPSS version 20. Results: Total 200 hundredcases were included in the study. Males 78.5 % (N=157) outnumbered female patients 21.5% (N= 43). The age range of study subjects was between 15 -59 years. Mean age of the totalcases was 22.6 years. Majority of the patients presenting with suicide were single comprising61 % (N= 122) of study cases with a P value < 0.001. Total cases of married subjects were 27.5% (N= 55) with a P value < 0.001. While 5.5% subjects were separated and 6 % were divorced.Unskilled labors made the largest group comprising of 24.5 % (N=49) of all the cases. Otheroccupations included farmers (15.5 %), skilled labor (15%), jobless (11.5%), house wives (8.5%), students (7 %), and shopkeepers (6%). Out of the total 200 patients with attempted suicide32% were illiterate, 33.5 % were educated up to primary level, 19.5% were matriculate, 09 %were intermediate passed, and only 6 % were graduate. (Table-II). Conclusion: In Pakistan stillSuicide attacks are reported. Our results suggest that suicidal thoughts can be entirely predictby common reported in male and younger age due to very sensitive to family issues, lowereducation level and major depression due to unemployment or low level earning of unskilledlabor occupation in the Pakistan population.

OBJECTIVE: To determine the coping strategies adopted by patients diagnosed with major depressive disorder (MDD) and their association with various socio-demographic variables. METHODOLOGY: This descriptive cross-sectional study was done on diagnosed patients of major depressive disorder presenting to the out-patient department of Liaquat University Hospital and Sir Cowasjee Jehangir Institute of Psychiatry, Hyderabad during 6 months from November 2019 to April 2020. All the cases aged >18 years, both gender and diagnosed with major depressive disorder were included. Depression coping questionnaire (DCQ) was administered to check for coping strategies employed. All the data was entered and analyzed by using statistical package for social sciences SPSS version 20. RESULTS: A majority of the sample comprised of middle-aged female patients, living in nuclear families in the urban setting with a middle socioeconomic status. The mean time delay in presenting to the OPD was 116±13 day. As per strategies the majority of the cases were taking pharmacological therapy and even fewer were under any other therapy. 92.75% of the patients admitted to employing coping strategies; a majority (78.57%) of whom deemed them useful. CONCLUSION: Coping strategies are adopted by many of the patients the belief of them being useful is prevalent. Different strategies are common among different sociodemographic groups, however, most of the coping strategies employed are negative and lead to negative consequences in the long run. Key words: Depression, coping, adopted, socio-demographic factors