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Background: Anorexia nervosa is one of the least studied mental health conditions in the Indian setting. The objective of this study was to assess the course and outcome of anorexia nervosa in adolescents who had presented to a tertiary care child and adolescent psychiatry center over a period of 10 years., Methods: The present study is a retrospective chart review of adolescents (up to the age of 18 years) with a diagnosis of anorexia nervosa, coded as F50.0 or F50.1 according to ICD 10, from 1 st April 2009 to 31 st March 2019. Data were extracted from the case records using standardized abstraction forms and evaluated using descriptive and nonparametric statistics., Results: The average age at presentation and the average age at onset were 14.1 years and 13.1 years, respectively. The male-to-female ratio of the sample who got admitted was 1:9. The average duration of hospital stay was about 30 days. The duration of in-patient care and weight gain were positively correlated, with severe to extremely ill adolescents improving even in less than one month of in-patient care. Seventy per cent of the admitted adolescents followed up. The functional outcome as measured by a 'return to school' improved in 57.1% of the sample., Conclusions: The present study highlights the collaborative multidisciplinary and individualized treatment approach employed for adolescents diagnosed with anorexia nervosa within an inpatient mental health facility in India. Adolescents who presented with more severe illness at the initial assessment, such as an early onset of symptoms and a low BMI, experienced substantial weight gain that exhibited a positive correlation with the length of their stay in the inpatient facility., Competing Interests: The authors declared no potential conflicts of interest with respect to the research, authorship and/or publication of this article., (© 2024 The Author(s).)

Dissociative/conversion disorders affect almost 31% of children and adolescents in a clinical setting. These children experience significant impairments in their academics, and daily functioning, with high chances of developing other psychiatric comorbidities such as anxiety and depression. However, there are no studies that explore the experiences of suffering from dissociative/conversion disorders from perspective of the sufferer. Therefore, the paper has aimed at exploring the subjective experiences of dissociative and conversion disorders among adolescents in the Indian context by examining their understanding about the illness and the reason they ascribe to the cause of their illness. The study used a qualitative semi-structured interview to understand their illness. In total, 10 adolescents of age group between 12 and 16 years participated. Eight out of the 10 participants were female and the mean age was 12 years. All of them were in-patients in the department of Child and Adolescent Psychiatry, NIMHANS, which is the tertiary mental health care Institute India and pioneer Institute of mental health in Asia. All participants have had at least one or more consultation history either with a traditional healer or/and physician. Thematic analysis identified vital themes such as (1) Adolescents' attributing factors of the illness, (2) Cognitive and emotional appraisal of stressful situation/s, (3) Adolescents' appraisal of different explanatory model, (4) Living with the Impact of the illness. This analysis about dissociative/conversion disorders from adolescents' perspective has a major contribution in enhancing the clinical knowledge and practice in planning and managing children/adolescents diagnosed with dissociative/conversion disorders.

Background: Childhood obsessive-compulsive disorder (OCD) is distinct from OCD in adults. It can be severely disabling and there is little qualitative research on OCD in children. The present study aims to explore the subjective experiences of diagnosis, treatment processes and meaning of recovery in children and adolescents suffering from OCD and provide a conceptual model of the illness., Methods: It is a qualitative study of ten children and adolescents selected by purposive sampling. MINI KID 6.0, Children's Yale-Brown Obsessive-Compulsive Scale and Clinical Global Impression-Severity Scale were administered at the time of recruitment of subjects into the study. Interviews were conducted using an in-depth semi-structured interview guide and audio-recorded. The transcribed interviews were analyzed using Interpretative Phenomenological Analysis (IPA). The study sought to explore participants' sense-making of their world, their thoughts, feelings and perceptions through interpretative enquiry. The findings were confirmed by a process called investigator triangulation, member check and peer validation., Results: IPA yielded five major themes-'illness perception changes over time', 'disclosure on a spectrum', 'cascading effects of OCD', 'treatment infuses hope and helps', and 'navigating through OCD'. A summary of these themes and their subthemes is presented as a conceptual model. The essence of this model is to show the inter-relationship between themes and provide a comprehensive understanding of the phenomenon of OCD., Conclusions: To the best of our knowledge, this is the first study to explore lived experiences of children and adolescents with OCD using interpretative phenomenological analysis (IPA). It was noted that perception of illness and treatment processes evolves over time, and recovery is viewed as a process. Future qualitative research can be carried out with a focus on 'therapist-related barriers' or 'student-teacher dyads' that can inform clinical practice and school policies respectively. Trial registration NIMH/DO/IEC (BEH. Sc. DIV)/2018, l1 April 2018., (© 2022. The Author(s).)

Objective: This study was conducted to assess the trends observed in the prevalence pattern, clinical presentation, psychosocial profile and treatment profile of anorexia nervosa in children and adolescents who presented to a tertiary care child and adolescent psychiatry centre over a period of ten years., Methods: Case records of children and adolescents diagnosed with anorexia nervosa at the department of child and adolescent psychiatry from 1st April 2009-31 st March 2019 were obtained from the medical records department of the National Institute of Mental Health and Neurosciences (NIMHANS). Standardized data abstraction forms were developed and used for the purpose of this study. Pseudo-anonymization was done to ensure confidentiality and clinical characteristics of the sample were studied using frequency analysis and central tendencies., Results: Prevalence of anorexia nervosa in a clinic-based population is estimated to be 0.07% over the 10-year period. The mean age at presentation was 13.96 years (SD-2.3) and the male to female ratio was 1:12. The majority (80.8%) were admitted and only one patient (3.8%) received treatment on an outpatient basis. Two or more psychosocial stressors were associated with the onset of illness in 88.5% (n = 23) of the patients and dysfunctional family dynamics was noted to be a significant issue in the majority of cases. All the patients received pharmacotherapy and CBT-based individual therapy. The overall outcome was favourable based on the CGI-I scores., Conclusions: Prevalence of anorexia nervosa in the clinic-based setting is rising in the Indian context. Sample characteristics are similar to those seen in the west. There is a huge demand-supply gap that calls for creating a service provider network to ensure community-based care., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Competing Interests: Declaration of Conflicting Interests: The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Background: Spastic paraplegia 50 (SPG50) is a rare autosomal recessive inherited disorder characterized by spasticity, severe intellectual disability and delayed or absent speech. Loss-of-function pathogenic mutations in the AP4M1 gene cause SPG50., Methods: In this study, we investigated the clinical and genetic characteristics of a consanguineous family with two male siblings who had infantile hypotonia that progressed to spasticity, paraplegia in one and quadriplegia in the other patient. In addition, the patients also exhibited neurodevelopmental phenotypes including severe intellectual disability, developmental delay, microcephaly and dysmorphism., Results: In order to identify the genetic cause, we performed cytogenetics, whole-exome sequencing and Sanger sequencing. Whole-exome sequencing of the affected siblings and unaffected parents revealed a novel exonic frameshift insertion of eight nucleotides (c.341_342insTGAAGTGC) on exon 4 of the AP4M1 gene., Conclusion: Insertion of these eight nucleotides in the AP4M1 gene is predicted to result in a premature protein product of 132 amino acids. The truncated protein product lacks a signal binding domain which is essential for protein-protein interactions and the transport of cargo proteins to the membrane. Thus, the identified variant is pathogenic and our study expands the knowledge of clinical and genetic features of SPG50., (© 2021. Fondazione Società Italiana di Neurologia.)

Normative Obsessive-compulsive (OC) like behaviors can be common in early childhood. Very young children rarely can present with significantly impairing OC phenomenon associated with severe accommodative behaviors, which may warrant interventions. We describe three pre-schoolers with an onset of impairing OC symptoms at 28-, 21-, and 36-months of ages. An eclectic psychosocial approach based on Behaviorism, Attachment, Sensitive Parenting, Developmental, and Family systems was used. The children were followed-up for one to three years. The cases highlight the pattern of Obsessive-Compulsive Disorders (OCD) in very young children and emphasize the utility of non-pharmacological intervention in this age group., (Copyright © 2021. Published by Elsevier B.V.)

Obsessive-compulsive disorder (OCD) has been described in preschool children as young as 2-3 years old. A preschool age onset of OCD has unique diagnostic and therapeutic challenges. In this article, the authors review published literature on preschool onset OCD and present data on preschool-onset OCD (age of onset ≤ 5 years) from clinical records at a tertiary care child and adolescent psychiatry center in India. Literature suggests that OCD that starts this early is phenomenologically similar to OCD in older individuals; however, it has very high rates of comorbidity and a family history of OCD. There is a paucity of data on course, treatment, and long-term outcome in this group. At their center, the authors found a 3% prevalence of preschool-onset OCD, with a male predominance (69%) and fairly high comorbidity rates (62%). Qualitative review highlighted delay in treatment seeking, poor follow-up rates, frequent use of pharmacological treatment, and a high remission rate in those treated adequately.

Börjeson-Forssman-Lehman Syndrome (BFLS) is a rare X-linked recessive syndrome characterized by intellectual disability, developmental delay, obesity, epilepsy, swelling of the subcutaneous tissues of the face, large but not deformed ears, hypogonadism, and gynecomastia. Pathogenic mutations in PHD finger protein 6 (PHF6) have been reported to cause BFLS. In this study, we describe two male siblings with mild intellectual disability, global developmental delay, short stature, microcephaly, and nyctalopia. Whole exome sequencing of the affected siblings and the parents identified a missense variant (c.413C > G) in the PHF6 gene, which leads to alteration of a serine residue at position 138 to cysteine. This mutation is located in a highly conserved region. Sanger sequencing confirmed the segregation of this mutation in the family in an X-linked recessive fashion. Multiple mass spectrometry-based proteomic studies have reported phosphorylation at serine 138 that describes the possible role of serine 138 in signaling. This novel variant in PHF6 gene helped in establishing a diagnosis of BFLS.

Cohen syndrome (CS) is an autosomal recessive congenital disorder, characterized by hypotonia, intellectual disability, developmental delay, microcephaly, progressive retinopathy, neutropenia, truncal obesity, joint laxity, characteristic facial, ophthalmic, oral and appendage abnormalities, and an over friendly behavior. It has been linked to mutations in the VPS13B gene. The main purpose of this study was to determine the genetic cause of CS in an Indian family. Whole exome sequencing (WES) was used to identify the genetic cause of CS in the family. The WES analysis identified a homozygous novel duplication mutation c.5272dupG in the VPS13B gene, leading to formation of a truncating protein. The present study will be advantageous in genetic diagnosis and genetic counseling in CS, and increases the mutational spectrum of this gene.

Background: Alkuraya-Kučinskas syndrome is an autosomal recessive disorder characterized by brain abnormalities associated with cerebral parenchymal underdevelopment, arthrogryposis, club foot and global developmental delay. KIAA1109, a functionally uncharacterized gene is identified as the molecular cause for Alkuraya-Kučinskas syndrome. Most of the reported mutations in KIAA1109 gene result in premature termination of pregnancies or neonatal deaths while a few mutations have been reported in surviving patients with global developmental delay and intellectual disability. To our knowledge, only three surviving patients from two families have been reported with missense variants in KIAA1109. In this study, we describe four surviving patients from two related families (a multiplex family) with global developmental delay and mild to severe intellectual disability with no other systemic manifestations. There were no miscarriages or neonatal deaths reported in these families., Methods: X-chromosome exome panel sequencing was carried out in one patient and whole exome sequencing was carried out on the remaining three affected individuals and the unaffected father of the index family. Data analysis was carried out followed by variant filtering and segregation analysis. Sanger sequencing was carried out to validate the segregation of mutation in all four affected siblings and unaffected parents from both families., Results: A novel homozygous missense mutation in a conserved region of KIAA1109 protein was identified. Sanger sequencing confirmed the segregation of mutation in both families in an autosomal recessive fashion., Conclusion: Our study is the second study reporting a KIAA1109 variant in surviving patients with Alkuraya-Kučinskas syndrome. Our study expands the spectrum of phenotypic features and mutations associated with Alkuraya-Kučinskas syndrome.

Transcranial direct current stimulation (tDCS), a non-invasive, neuromodulatory technique, is being increasingly applied to several psychiatric disorders. In this study, we describe the side-effect profile of repeated tDCS sessions (N = 2005) that were administered to 171 patients (156 adults and 15 adolescents) with different psychiatric disorders [schizophrenia [N = 109], obsessive-compulsive disorder [N = 28], alcohol dependence syndrome [N = 13], mild cognitive impairment [N = 10], depression [N = 6], dementia [N = 2] and other disorders [N = 3]]. tDCS was administered at a constant current strength of 2 mA with additional ramp-up and ramp-down phase of 20 s each at the beginning and end of the session, respectively. Other tDCS protocol parameters were: schizophrenia and obsessive-compulsive disorder: 5-days of twice-daily 20-min sessions with an inter-session interval of 3-h; Mild cognitive impairment/dementia and alcohol dependence syndrome: at least 5-days of once-daily 20-min session; Depression: 10-days of once-daily 30 min session. At the end of each tDCS session, any adverse event observed by the administrator and/or reported by the patient was systematically assessed using a comprehensive questionnaire. The commonly reported adverse events during tDCS included burning sensations (16.2%), skin redness (12.3%), scalp pain (10.1%), itching (6.7%), and tingling (6.3%). Most of the adverse events were noted to be mild, transient and well-tolerated. In summary, our observations suggest that tDCS is a safe mode for therapeutic non-invasive neuromodulation in psychiatric disorders in adults as well as the adolescent population., Competing Interests: Declaration of Competing Interest There are no potential conflicts of interest to report for any of the authors., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Background: Anxiety spectrum disorders are the most prevalent psychopathology among children and adolescents. Qualitative research in childhood anxiety disorders can provide valuable insights regarding interventions. The objectives of this study were to examine the child's perspectives on the subjective experience of concerns, the impact of the symptoms on socioacademic functioning, and the process of recovery with interventions., Methods: Children and adolescents aged 6-16 years, presenting with any subtype of anxiety spectrum disorder as per International Classification of Diseases and Related Health problems, 10 th Revision (ICD-10) Diagnostic Criteria for Research, were included. Convenience sampling was used, and 30 children fulfilling inclusion and exclusion criteria were selected. An interview guide with simple questions to facilitate response was used, at the baseline and 12 th week of follow-up, to generate a written narrative account of the experience of concerns, the impact of symptoms, and the treatment process. Children received treatment as usual, which included a workbook-based cognitive behavioral intervention., Results: Content analysis was done using 30 baseline and 20 follow-up narratives. Clustering of themes were done. Themes related to the recovery process reflected perceived improvement in academic performance and competence, apart from the improvement in symptoms. There were more themes in favor of cognitive interventions., Conclusion: Children's narratives highlight the importance of cognitive interventions for anxiety disorders., Competing Interests: There are no conflicts of interest.

Background: Although anxiety disorders are the most prevalent psychiatric disorders among children and adolescents, there is a paucity of research on the course and outcome of anxiety spectrum disorders in low and middle-income countries., Methods: 60 children and adolescents aged 6-16 years with anxiety spectrum disorders attending the child and adolescent psychiatry department in a tertiary care center from India were included after taking written informed consent and assent in this prospective study conducted between April 2012 to May 2014. Assessments were done at baseline, 12 weeks and 24 weeks using pediatric anxiety rating scale, clinical global impression-severity, clinical global assessment scale and pediatric quality of life scale; MINI-KID (version 6.0) was used to examine remission status., Results: Mean age of children was 12.68 years and mean duration of illness was 34.52 months. Follow-up rate at 24 weeks was 80% with a remission rate of 64.6%. Socio-demographic factors did not affect the baseline severity or course and outcome measures. Children with greater baseline severity and social phobia had a less favorable outcome at 24 weeks. Improvements made in the initial 12 weeks were maintained at 24 weeks follow up. These findings are in line with earlier studies from high-income countries., Limitations: Small sample size, attrition, rater bias., Conclusion: The study has shown a favorable outcome in children and adolescents with anxiety spectrum disorders receiving treatment-as-usual in a tertiary care setting. Adolescents who present with greater severity, comorbid with other anxiety disorders and depression at baseline require intensive intervention, and long-term follow up. There is a need for interventional research with specific focus on universal preventive programs for anxiety spectrum disorders that are feasible for delivery in low and middle-income countries.

Context: Almost 1/5 th of the adolescent population suffers from mental morbidity. In older adolescents, clinical challenges are accompanied by unique psychosocial and developmental needs. Recent legislations in India - the Mental Health Care Act, 2017 and the Juvenile Justice Act, 2015 - mandate specific arrangements and provisions for evaluation and treatment of children and adolescents. A separate inpatient Adolescent Psychiatry Center (APC) was started at National Institute of Mental Health and Neurosciences, Bangalore, in 2016., Aims: (a) The aim of this study is to present the need for, development, infrastructure and workforce at APC; (b) to describe clinical profile of adolescents admitted to APC and (c) to identify clinical and psychosocial challenges in the management of older adolescents., Setting and Design: The paper covers consecutive inpatient admissions over the first 7 months of APC., Materials and Methods: Data were gathered from a review of hospital records, staff meetings, and case files., Statistical Analysis: Qualitative data, such as clinical management challenges, are summarized under major emergent themes. Quantitative data are summarized as means with standard deviations and frequencies with percentages., Results: Males, from urban, nuclear family background constituted the majority admissions. Family stressors and risk behaviors were prevalent. Unique clinical challenges included - risk behaviors, issues related to autonomy, conflict with family and conflict with the legal system., Conclusions: Older adolescents need to be treated in an environment appropriate to their age and developmental stage. Restructuring of spaces, routines, and creative inputs to interventions strategies must be made for healing environments for youngsters. APC could be a model for the development of other similar centers., Competing Interests: There are no conflicts of interest

Objective: To examine the differences in whole brain topology and connectivity in 17 children of the ages 3-8 years across severity of ASD, we performed resting state fMRI using a 3T MRI scanner and graph theoretical analysis of networks., Method: Patients were partitioned into two cohorts based on the severity of ASD, determined using the Childhood Autism Rating Scale (CARS) scores (Mild, 30-36; Severe, 37+). Standard preprocessing pipeline was used, followed by independent component analysis (ICA) to identify regions of interest (ROIs) to construct subject-specific Z-correlation matrices representing the whole brain network. Following which, graph theory measures were calculated in the range of sparsity 6%-35% and statistically analyzed, and corrected for significance (FDR corrected, p < 0.05). Regional clustering coefficient that revealed significant between-group (mild vs. severe) differences were correlated against clinical scores (CARS)., Results: Children with severe ASD revealed significantly increased clustering coefficient and small-worldness compared to those with mild or moderate ASD. Region of interest analysis revealed altered clustering in the Heschl's gyrus that significantly correlated with CARS scores., Conclusion: The findings from the current study provide early stage evidence of aberrant brain connectivity appearing in severe ASD, prior to the effect of environmental bias and pruning mechanisms. The clustering of the Heschl's gyrus correlated to the severity of ASD symptoms and agrees with current literature on ASD-associated cortical changes, reflecting early changes to language processing regions., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Multiple studies have identified the presence of peripheral immune aberrations in subjects with Autism Spectrum Disorder (ASD). However, comprehensive assessment of these peripheral immune aberrations, in the cellular and systemic compartments, in a single group of subjects with ASD is lacking. We assessed proportions of various subsets of immune cells in peripheral blood (T helper cells, T regulatory cells, B cells, monocytes, Natural Killer cells, dendritic cells) by multi-parametric flow cytometry in 50 children with ASD and compared it with thirty healthy controls matched for age, gender, socio-economic status and body mass index. There were no significant differences noted in the proportion of T regulatory cells, B cells, monocytes and Natural Killer cells, between ASD subjects and controls. On the contrary, the proportion of activated Th17 and myeloid dendritic cells were significantly higher in children with ASD. Based on these findings, group comparison of serum levels of Th17 cytokines (interleukin-6, interleukin-17A) was performed. Elevated serum levels of interleukin-6 and interleukin-17A in children with ASD corroborated our immunophenotyping findings. We did not find any significant differences among the pro-inflammatory (interleukin-1β), Th1 (interferon-γ) and Th2 (interleukin-4) cytokines. This is the first evidence with concurrent findings from immunophenotyping and cytokine data demonstrating activation of the Th17 pathway in subjects with ASD. This finding assumes significance in the light of recent maternal immune activation mouse model study that has highlighted the role of Th17 pathway in the pathophysiology of ASD. Future longitudinal studies are needed to clarify the role of this dysregulated immune pathway in the development of ASD., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

Objective: Although psychiatric manifestations are one of the most common presentations of pediatric N-methyl-D-aspartate receptor (NMDAR) encephalitis, there is a lack of studies that characterize psychiatric aspects of this disorder. This study was designed to address this gap., Methods: Initial clinical presentations including psychiatric symptoms, treatment details, and outcome with respect to psychiatric symptoms were collected from medical case records of children aged less than 18 years with seropositive NMDAR encephalitis from a single tertiary care center (May 2010-November 2016). The Brief Psychiatric Rating Scale for Children (BPRS-C) was administered at the time of presentation and at follow-up., Results: Clinical records from 16 girls and 5 boys of whom 12 were prepubertal (< 12 years) and 9 were postpubertal (≥ 12 years) were analyzed. All 21 children presented with psychiatric symptoms at initial presentation. In 10 children (47.6%), psychiatric symptom was the first symptom. Major psychiatric symptoms included inappropriate crying (most common, 66.7%, n = 14), social withdrawal (57.1%, n = 12), unprovoked anger outburst (47.6%, n = 10), unprovoked screaming behavior (38.1%, n = 8), and talking to self irrelevantly (42.9%, n = 9). In addition to psychiatric symptoms, at least 1 of the following was also seen in all children: speech disturbance (85.7%, n = 18), seizure (85.7%, n = 18), or movement disorder (76.2%, n = 16). Mood symptoms (85.7%, n = 18) were the most common psychopathology. A comorbid psychiatric diagnosis (ICD-10 criteria) was made in 11 children (52.4%); the most common was organic mood disorder (n = 6). The mean BPRS-C score at presentation in prepubertal children was higher than that of postpubertal children (21 vs 17). After immune modulation, clinical improvement was noted after a mean ± SD of 7.4 ± 4.8 months in all 20 children followed up. Three of the 4 children with residual psychiatric symptoms and persistent academic difficulties were prepubertal., Conclusions: Psychiatric manifestations that are usually mood related are quite common in pediatric NMDAR encephalitis. Prepubertal presentation of this disorder appears to be more severe and may lead to persistent psychiatric and cognitive symptoms., (© Copyright 2017 Physicians Postgraduate Press, Inc.)

Background: There is a recent trend of increase in diagnosis of Autism Spectrum Disorder in India. Till date, there are few retrospective and prospective Indian studies with limited sample sizes ranging from 16 to 94 children. With this background, we planned a retrospective chart review of all new cases of Autism Spectrum Disorder for a period of 1 year in our tertiary care child psychiatry centre., Methodology: Objectives of this study were to compare the sociodemographic and clinical profile of children below and above 3 years of age and between those who were self-referred versus those referred by professionals., Results: Out of a total of 1957 case records, 201 children (10.3%) were diagnosed with Autism Spectrum Disorder. Male to female ratio was 4:1.2. Mean age of consultation was significantly higher in males. Seventy six percent had a comorbid disorder with Intellectual disability, Attention Deficit Hyperactivity Disorder and Epilepsy being the most common comorbidities. Most caregivers (92.5%) recognized symptoms by 3 years of age. Presenting complaint of poor social response was more prevalent in children <3 years and co-morbidities in children above 3 years. Presenting complaint of speech delay was more common in children who were referred by professionals when compared with those who were self-referred., Discussion: There is a need to sensitize parents and professionals for early intervention and to standardize protocols for assessment and intervention., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Robust diagnostics for many human genetic disorders are much needed in the pursuit of global personalized medicine. Next-generation sequencing now offers new promise for biomarker and diagnostic discovery, in developed as well as resource-limited countries. In this broader global health context, X-linked intellectual disability (XLID) is an inherited genetic disorder that is associated with a range of phenotypes impacting societies in both developed and developing countries. Although intellectual disability arises due to diverse causes, a substantial proportion is caused by genomic alterations. Studies have identified causal XLID genomic alterations in more than 100 protein-coding genes located on the X-chromosome. However, the causes for a substantial number of intellectual disability and associated phenotypes still remain unknown. Identification of causative genes and novel mutations will help in early diagnosis as well as genetic counseling of families. Advent of next-generation sequencing methods has accelerated the discovery of new genes involved in mental health disorders. In this study, we analyzed the exomes of three families from India with nonsyndromic XLID comprising seven affected individuals. The affected individuals had varying degrees of intellectual disability, microcephaly, and delayed motor and language milestones. We identified potential causal variants in three XLID genes, including PAK3 (V294M), CASK (complex structural variant), and MECP2 (P354T). Our findings reported in this study extend the spectrum of mutations and phenotypes associated with XLID, and calls for further studies of intellectual disability and mental health disorders with use of next-generation sequencing technologies.

Autism spectrum disorders (ASD) are well known to be influenced by various environmental factors. Among these influencers, social experiential deprivation (SED) in infancy is one of them which is not well reported. We explored factors contributing to SED in 11 young children diagnosed to have ASD and compared them to 24 children without SED also having ASD. Intervention mainly addressing factors causing SED for 6 months demonstrated that children with SED had a better outcome at follow up. Could SED be a possible prognostic factor in children with ASD?, (Copyright © 2017 Elsevier B.V. All rights reserved.)

Pervasive refusal syndrome is described as a condition comprising varying degrees of refusal across several domains; social withdrawal; resistance to treatment and is potentially life threatening with no detectable organic cause. Female predominance, refusal to eat with low weight, body image distortion, depressive features, premorbid personality issues similar to eating disorders have been noted, with 67% cases having complete recovery. In this paper, we describe what is probably the first case reported from India, of a child, who presented with neuropsychiatric symptoms, and treated with electroconvulsive therapy along with medications, but, sadly had a fatal outcome., (Copyright © 2015 Elsevier B.V. All rights reserved.)

The Broad Autism Phenotype Questionnaire (BAPQ) which is a reliable, efficient and easy to administer instrument is used to assess the Broad Autism Phenotype (BAP). In order to understand cross cultural perspectives using this instrument, a key process is translation of the instrument. The process of translation is often overlooked and hence the quality of the translated instrument may suffer. This paper highlights the robust process adopted for translating the BAPQ into one of the Indian languages - Kannada, using the International Society for Pharmacoeconomics and Outcomes Research (ISPOR) and World Health Organisation (WHO) guidelines. The translated instrument was tested on a pilot sample of parents of 10 children with ASD and parents of 11 typically developing children. The results are in congruence with the published literature., (Copyright © 2015 Elsevier B.V. All rights reserved.)

Context: Early intervention in specific learning disability (SpLD) results in better outcome and prevents comorbidity. Understanding the pathways is therefore important., Aims: To study and compare the pathways to care for children with SpLD and mental retardation (MR) before reaching a tertiary care center., Settings and Design Material and Methods: A cross-sectional study was conducted for pathways to care of two groups: SpLD and MR with 50 children in each group from 8 to 16 years. MINI-KID for comorbidity and Goldberg's pathway to care instrument was used. The groups were divided into early contact (up to three carers) and late contact (more than three carers) and compared., Statistical Analysis: Data were analyzed using Statistical Packages for Social Sciences (SPSS) version 10.0 software., Results: Majority (n = 24 or 48%) of SpLD children visited "others" (teachers, neighbors, relatives, and guardians of fellow classmates) as first carer. Allopathic practitioners were the first choice for MR children (n = 31 or 62%). Six children (12%) in SpLD group and 10 of MR (20%) group have seen either traditional practitioner or healer as first carer. Maximum referral to the tertiary center in both groups was done by others (62% in SpLD and 56% in MR group). Early contacts in SpLD group belonged to younger age group (P = 0.01). While comparing both groups on the basis of early and late contact, mother's education was found to be significant in early contact group (P = 0.036) and having comorbidity was significant among late contacts (P = 0.038)., Conclusions: The pathways to care for SpLD children are more or less similar to MR children whose parents recognize MR late. Both the groups visit multiple carers including traditional healers substantiating the strong belief for supernatural causation of developmental disorders in India.

Background and Need for the Study: Identification and management of aggression is a major mental health priority in hospitalised patients. However, no such studies have been done in child and adolescent in-patients in India., Objectives: To study the clinical and demographic features; characteristics of the aggression and methods employed to manage aggression in child and adolescent in-patients., Materials and Methods: Child and adolescent in-patients between the ages of 4 and 16 years who were aggressive were included. The tools used were the MINI-International Neuropsychiatric Interview (M.I.N.I) KID, Overt Aggression Scale (OAS), Children's Global Assessment Scale (CGAS), and a Semi-structured interview regarding each aggressive episode., Results: 31 patients displayed aggressive behaviour out of the 131 patients who were admitted during the study period. Aggressive acts were more common in males, those with academic difficulties, who had a past history of aggression, with suicidal ideation or suicidal attempts. Aggression occurred across diagnostic categories but a significant proportion was diagnosed to have Disruptive Behaviour Disorders either as a primary diagnosis or as comorbidity. 90.6% were on psychotropic medication prior to admission. Around 2/3rd of aggressive episodes occurred in the evening and family members (85.7%) were the most common targets of aggression., Conclusion: There are a few factors that can possibly help identify and predict aggression in children and adolescents in a hospital setting. More research is required to understand aggression in clinical settings., (Copyright © 2013 Elsevier B.V. All rights reserved.)

Aim: The aim of this observational study was to explore gender-related differences in psychiatric morbidity during the initial three months following the December 2004 earthquake and tsunami involving the Andaman and Nicobar Islands, India., Methods: There were 12,784 survivors sheltered across 74 relief camps with 4,684 displaced survivors in Port Blair and 8,100 non-displaced survivors in Car-Nicobar Island. All persons who accessed mental health assistance within the camps constituted the study sample. Diagnoses were made by qualified psychiatrists using the ICD-10. There were 475 patients: 188 (40%) men and 287 (60%) women., Results: There were significant gender differences in terms of displacement. There were significantly higher levels of panic disorder, unspecified anxiety disorder and somatic complaints in the displaced women while the non-displaced population showed more adjustment disorder., Conclusions: Displacement was a significant factor in the manifestations of observed pathology. Displaced women had greater psychiatric morbidity. In addition, the fact that adjustment disorder (a self-limiting disorder form of psychopathology) was more prevalent in the non-displaced group may be a reflection of the findings of overall lesser morbidity in non-displaced women. Hence, women may have to be rehabilitated in their own habitats after major disasters.

Background: Anxiety disorders are common among children and adolescents with bipolar disorder. Among adults, anxiety disorder comorbidity is associated with a more severe form of bipolar disorder and a poorer outcome. There is limited data on the effect of comorbid anxiety disorder on bipolar disorder among children and adolescents., Aim: To study the prevalence of anxiety disorders among adolescents with remitted bipolar disorder and examine their association with the course and severity of illness, global functioning, and quality of life., Materials and Methods: We evaluated 46 adolescents with DSM IV bipolar disorder (I and II) who were in remission, using the Schedule for Affective Disorders and Schizophrenia for School-Age Children. We measured quality of life using the Pediatric Quality of Life Inventory and global functioning using the Children's Global Assessment Scale, and then compared these parameters between adolescents with and without current anxiety disorders. We also compared the two groups on other indicators of severity such as number of episodes, suicidal ideation, presence of psychotic symptoms, and response to treatment., Results: Among the 46 subjects, the prevalence of current and lifetime anxiety disorders were 28% (n=13) and 41% (n=19), respectively. Compared with others, adolescents with anxiety had more lifetime suicidal ideation, more number of episodes, lower physical, psychosocial, and total subjective quality of life, and lower global functioning., Conclusions: Among adolescents with bipolar disorder, anxiety disorders are associated with a poorer course, lower quality of life, and global functioning. In these subjects, anxiety disorders should be promptly recognized and treated.

Although "intellectual disability" has widely replaced the term "mental retardation", the debate as to whether this entity should be conceptualized as a health condition or as a disability has intensified as the revision of the World Health Organization (WHO)'s International Classification of Diseases (ICD) advances. Defining intellectual disability as a health condition is central to retaining it in ICD, with significant implications for health policy and access to health services. This paper presents the consensus reached to date by the WHO ICD Working Group on the Classification of Intellectual Disabilities. Literature reviews were conducted and a mixed qualitative approach was followed in a series of meetings to produce consensus-based recommendations combining prior expert knowledge and available evidence. The Working Group proposes replacing mental retardation with intellectual developmental disorders, defined as "a group of developmental conditions characterized by significant impairment of cognitive functions, which are associated with limitations of learning, adaptive behaviour and skills". The Working Group further advises that intellectual developmental disorders be incorporated in the larger grouping (parent category) of neurodevelopmental disorders, that current subcategories based on clinical severity (i.e., mild, moderate, severe, profound) be continued, and that problem behaviours be removed from the core classification structure of intellectual developmental disorders and instead described as associated features.

Intellectual disability was recognised in ancient Indian literature, but organised services have a history of just five decades. India shares many features of low- and middle-income (LAMI) countries regarding intellectual disability. There is a low level of awareness about its nature, causes and interventions. One can come across many superstitions, myths and misconceptions about intellectual disability. In general, services are inadequate, being concentrated in big cities and urban areas. There is generally limited access to support services and few government benefits, and these, in any case, are often of little value (World Health Organization, 2007). Locally and nationally, there are few relevant and reliable epidemiological data on the prevalence of intellectual disability. However, there have been some positive developments within the past three decades, and they are the focus of this paper.

Primary microcephaly (MCPH) is an autosomal-recessive congenital disorder characterized by smaller-than-normal brain size and mental retardation. MCPH is genetically heterogeneous with six known loci: MCPH1-MCPH6. We report mapping of a novel locus, MCPH7, to chromosome 1p32.3-p33 between markers D1S2797 and D1S417, corresponding to a physical distance of 8.39 Mb. Heterogeneity analysis of 24 families previously excluded from linkage to the six known MCPH loci suggested linkage of five families (20.83%) to the MCPH7 locus. In addition, four families were excluded from linkage to the MCPH7 locus as well as all of the six previously known loci, whereas the remaining 15 families could not be conclusively excluded or included. The combined maximum two-point LOD score for the linked families was 5.96 at marker D1S386 at theta = 0.0. The combined multipoint LOD score was 6.97 between markers D1S2797 and D1S417. Previously, mutations in four genes, MCPH1, CDK5RAP2, ASPM, and CENPJ, that code for centrosomal proteins have been shown to cause this disorder. Three different homozygous mutations in STIL, which codes for a pericentriolar and centrosomal protein, were identified in patients from three of the five families linked to the MCPH7 locus; all are predicted to truncate the STIL protein. Further, another recently ascertained family was homozygous for the same mutation as one of the original families. There was no evidence for a common haplotype. These results suggest that the centrosome and its associated structures are important in the control of neurogenesis in the developing human brain.

Objective: The aim of this article is to present the assessment of the presentation of symptoms and psychiatric morbidity of children and adolescents from the Andaman and Nicobar islands during the first 3 months following the December 2004 earthquake and tsunami., Method: According to predefined criteria, a primary survivor is one who was exposed directly to the earthquake and tsunami, a secondary survivor is one with close family and personal ties to primary survivors, and tertiary survivors are individuals from the communities beyond the impact area, a majority of which were exposed to the earthquake only. This study included 37 primary and secondary survivors (aged

Objective: The objective of this study was to compare the psychiatric morbidity between the displaced and non-displaced populations of the Andaman and Nicobar Islands during the first three months following the 2004 earthquake and tsunami., Methods: The study was conducted at the 74 relief camps in the Andaman and Nicobar Islands. Port Blair had 12 camps, which provided shelter to 4,684 displaced survivors. There were 62 camps on Car-Nicobar Island, which provided shelter to approximately 8,100 survivors who continued to stay in their habitat (non-displaced population). The study sample included all of the survivors who sought mental health assistance inside the camp. A psychiatrist diagnosed the patients using the ICD-10 criteria., Results: Psychiatric morbidity was 5.2% in the displaced population and 2.8% in the non-displaced population. The overall psychiatric morbidity was 3.7%. The displaced survivors had significantly higher psychiatric morbidity than did the non-displaced population. The disorders included panic disorder, anxiety disorders not otherwise specified, and somatic complaints. The existence of an adjustment disorder was significantly higher in the non-displaced survivors. Depression and post-traumatic stress disorder (PTSD) were distributed equally in both groups., Conclusions: Psychiatric morbidity was found to be highest in the displaced population. However, the incidence of depression and PTSD were distributed equally in both groups. Involvement of community leaders and survivors in shared decision-making processes and culturally acceptable interventions improved the community participation. Cohesive community, family systems, social support, altruistic behavior of the community leaders, and religious faith and spirituality were factors that helped survivors cope during the early phase of the disaster.