Why parents consent to their children’s participation in genetic research: A study of parental decision making

Parents need to be asked to provide informed consent on behalf of their child for participation in genetic research. Decision making for such parents is difficult because ethical challenges in paediatric genetic research studies are different from similar adult studies. This paper focuses on interviews conducted with parents who were asked to consent to their children’s participation (or not) in a genetic research study of intellectual disability and/or autism.

A qualitative study of Institutional Ethics Committees: Members' understanding of research guidelines, privacy, and challenges to privacy protection

Right to privacy of health-related information is a foundational bioethical principle. In India, the importance of protecting privacy is included in law and ethical guidelines. Institutional Ethics Committees (IECs) are entrusted with the responsibility of protecting fundamental ethical principles, including privacy and confidentiality. The present qualitative study was designed to understand an IECs’ privacy-related obligations and the members’ experience in implementing ethical guidelines and privacy protections in their institutions. An interview guide was prepared regarding knowledge of ethical guidelines. Interviews of nineteen IEC members were recorded, transcribed, and translated. Interviews were analysed using thematic analysis. Themes related to these issues were extracted after analysis: awareness, understanding, and implementation of ethical guidelines; understanding of privacy-related obligations and their implementation; and juridical risks to privacy of patients and research participants. The results suggest that training programmes and awareness workshops should be organised for IEC members to protect the rights of research participants, especially in confidentiality issues.

Functional and structural abnormalities associated with empathy in patients with schizophrenia: An fMRI and VBM study.

Empathy deficit is a core feature of schizophrenia which may lead to social dysfunction. The present study was carried out to investigate functional and structural abnormalities associated with empathy in patients with schizophrenia using functional magnetic resonance imaging (fMRI) and voxel-based morphometry (VBM). A sample of 14 schizophrenia patients and 14 healthy control subjects matched for age, sex and education were examined with structural highresolution T1-weighted MRI; fMRI images were obtained during empathy task in the same session. The analysis was carried out using SPM8 software. On behavioural assessment, schizophrenic patients (83.00±29.04) showed less scores for sadness compared to healthy controls (128.70±22.26) (p<0.001). fMRI results also showed reduced clusters of activation in the bilateral fusiform gyrus, left lingual gyrus, left middle and inferior occipital gyrus in schizophrenic subjects as compared to controls during empathy task. In the same brain areas, VBM results also showed reduced grey and white matter volumes. The present study provides an evidence for an association between structural alterations and disturbed functional brain activation during empathy task in persons affected with schizophrenia. These findings suggest a biological basis for social cognition deficits in schizophrenics.

Diagnostic Accuracy of Indian Scale for Assessment of Autism (ISAA) in Chidren Aged 2-9 Years.

Objective: To determine the diagnostic accuracy of Indian Scale for Assessment of Autism (ISAA) in children aged 2-9 year at high risk of autism, and to ascertain the level of agreement with Childhood Autism Rating Scale (CARS). Design: Diagnostic Accuracy study Setting: Tertiary-level hospital. Participants: Children aged between 2 and 9 year and considered to be at a high risk for autism (delayed development, and age-inappropriate cognition, speech, social interaction, behavior or play) were recruited. Those with diagnosed Hearing impairment, Cerebral palsy, Attention deficit hyperactivity disorder or Pervasive developmental disorders (PDD) were excluded. Methods: Eligible children underwent a comprehensive assessment by an expert. The study group comprising of PDD, Global developmental delay (GDD) or Intellectual disability was administered ISAA by an investigator after one week. Both evaluators were blinded. ISAA results were compared to the Expert’s diagnosis and CARS scores. Results: Out of 102 eligible children, 90 formed the study group (63 males, mean age 4.5y). ISAA had a sensitivity 93.3, specificity of 97.4, positive and negative likelihood ratios 85.7 and 98.7 and positive and negative predictive values of 35.5 and 0.08, respectively. Reliability was good and validity sub-optimal (r low, in 4/6 domains). The optimal threshold point demarcating Autism from ‘No autism’ according to Receiver Operating Characteristic curve was ISAA score of 70. Level of agreement with CARS measured by Kappa coefficient was low (0.14). Conclusions: The role of ISAA in 3-9 year old children at high risk for Autism is limited to identifying and certifying Autism at ISAA score of 70. It requires re-examination in 2-3 year olds.

Knowledge & attitudes of mental health professionals regarding psychiatric research.

Background & objectives: Mental health professionals have varied attitudes and views regarding informed consent and confidentiality protections in psychiatric research and clinical care. The present study was designed to understand the knowledge and views of mental health professionals (MHPs) regarding informed consent and confidentiality protection practices. Methods: Mental health professionals (n=121) who were members of the Delhi Psychiatric Society, were invited to participate in this questionnaire-based study of their knowledge and attitudes regarding informed consent and confidentiality. Half of them expressed willingness to discuss participation and gave initial oral consent (n=62); of these, 31 gave written informed consent to participate and completed the questionnaires. The questionnaires included both forced choice (yes / no / do not know) and open-ended questions. Questionnaires content reflected prominent guidelines on informed consent and confidentiality protection. Results: Attitudes of the majority of the participants towards informed consent and confidentiality were in line with ethical principles and guidelines. All expressed the opinion that confidentiality should generally be respected and that if confidentiality was breached, there could be mistrust of the professional by the patient/participant. The mean knowledge scores regarding informed consent and confidentiality were 8.55 ± 1.46 and 8.16 ± 1.29, respectively. Interpretation & conclusions: The participating mental health professionals appeared to have adequate knowledge of basic ethical guidelines concerning informed consent and confidentiality. Most respondents were aware of ethical issues in research. Given the small sample size and low response rate, the significance of the quantitative analysis must be regarded with modesty, and qualitative analysis of open-ended questions may be more valuable for development of future research. Increased efforts to involve mental health professionals in research on ethical concerns pertinent to their work must be made, and the actual practices of these professionals with regard to ethical guidelines need to be studied.

Tubercular Brain Abscess - case report.

Central Nervous System (CNS) tuberculosis is a serious form of extra-pulmonary tuberculosis. CNS tuberculosis can present as meningitis, arachnoiditis, tuberculoma and brain abscess. Tubercular Brain Abscess (TBA) is a rare manifestation of central nervous system tuberculosis. With the advent of AIDS, more cases are being diagnosed, but very few have been reported in immunocompetent HIV negative patients. We present a case of TBA in a 23-year-old immunocompetent patient. The patient was given anti-tubercular treatment along with surgical excision. He showed significant improvement in all symptoms after weeks.

Molecular genetics of schizophrenia: past, present and future.

Schizophrenia is a severe neuropsychiatric disorder with a polygenic mode of inheritance which is also governed by non-genetic factors. Candidate genes identified on the basis of biochemical and pharmacological evidence are being tested for linkage and association studies. Neurotransmitters, especially dopamine and serotonin have been widely implicated in its etiology. Genome scan of all human chromosomes with closely spaced polymorphic markers is being used for linkage studies. The completion and availability of the first draft of Human Genome Sequence has provided a treasure-trove that can be utilized to gain insight into the so far inaccessible regions of the human genome. Significant technological advances for identification of single nucleo-tide polymorphisms (SNPs) and use of microarrays have further strengthened research methodologies for genetic analysis of complex traits. In this review, we summarize the evolution of schizophrenia genetics from the past to the present, current trends and future direction of research.