The ICD‐11 developmental field study of reliability of diagnoses of high‐burden mental disorders: results among adult patients in mental health settings of 13 countries

Reliable, clinically useful, and globally applicable diagnostic classification of mental disorders is an essential foundation for global mental health. The World Health Organization (WHO) is nearing completion of the 11th revision of the International Classification of Diseases and Related Health Problems (ICD‐11). The present study assessed inter‐diagnostician reliability of mental disorders accounting for the greatest proportion of global disease burden and the highest levels of service utilization – schizophrenia and other primary psychotic disorders, mood disorders, anxiety and fear‐related disorders, and disorders specifically associated with stress – among adult patients presenting for treatment at 28 participating centers in 13 countries. A concurrent joint‐rater design was used, focusing specifically on whether two clinicians, relying on the same clinical information, agreed on the diagnosis when separately applying the ICD‐11 diagnostic guidelines. A total of 1,806 patients were assessed by 339 clinicians in the local language. Intraclass kappa coefficients for diagnoses weighted by site and study prevalence ranged from 0.45 (dysthymic disorder) to 0.88 (social anxiety disorder) and would be considered moderate to almost perfect for all diagnoses. Overall, the reliability of the ICD‐11 diagnostic guidelines was superior to that previously reported for equivalent ICD‐10 guidelines. These data provide support for the suitability of the ICD‐11 diagnostic guidelines for implementation at a global level. The findings will inform further revision of the ICD‐11 diagnostic guidelines prior to their publication and the development of programs to support professional training and implementation of the ICD‐11 by WHO member states.     

A conceptual framework for the revision of the ICD-10 classification of mental and behavioural disorders

The World Health Organization (WHO) is revising the ICD-10 classification of mental and behavioural disorders, under the leadership of the Department of Mental Health and Substance Abuse and within the framework of the overall revision framework as directed by the World Health Assembly. This article describes WHO’s perspective and priorities for mental and behavioural disorders classification in ICD-11, based on the recommendations of the International Advisory Group for the Revision of ICD-10 Mental and Behavioural Disorders. The WHO considers that the classification should be developed in consultation with stakeholders, which include WHO member countries, multidisciplinary health professionals, and users of mental health services and their families. Attention to the cultural framework must be a key element in defining future classification concepts. Uses of the ICD that must be considered include clinical applications, research, teaching and training, health statistics, and public health. The Advisory Group has determined that the current revision represents a particular opportunity to improve the classification’s clinical utility, particularly in global primary care settings where there is the greatest opportunity to identify people who need mental health treatment. Based on WHO’s mission and constitution, the usefulness of the classification in helping WHO member countries, particularly low- and middle-income countries, to reduce the disease burden associated with mental disorders is among the highest priorities for the revision. This article describes the foundation provided by the recommendations of the Advisory Group for the current phase of work.     

Clinical utility of ICD‐11 diagnostic guidelines for high‐burden mental disorders: results from mental health settings in 13 countries

In this paper we report the clinical utility of the diagnostic guidelines for ICD‐11 mental, behavioural and neurodevelopmental disorders as assessed by 339 clinicians in 1,806 patients in 28 mental health settings in 13 countries. Clinician raters applied the guidelines for schizophrenia and other primary psychotic disorders, mood disorders (depressive and bipolar disorders), anxiety and fear‐related disorders, and disorders specifically associated with stress. Clinician ratings of the clinical utility of the proposed ICD‐11 diagnostic guidelines were very positive overall. The guidelines were perceived as easy to use, corresponding accurately to patients’ presentations (i.e., goodness of fit), clear and understandable, providing an appropriate level of detail, taking about the same or less time than clinicians’ usual practice, and providing useful guidance about distinguishing disorder from normality and from other disorders. Clinicians evaluated the guidelines as less useful for treatment selection and assessing prognosis than for communicating with other health professionals, though the former ratings were still positive overall. Field studies that assess perceived clinical utility of the proposed ICD‐11 diagnostic guidelines among their intended users have very important implications. Classification is the interface between health encounters and health information; if clinicians do not find that a new diagnostic system provides clinically useful information, they are unlikely to apply it consistently and faithfully. This would have a major impact on the validity of aggregated health encounter data used for health policy and decision making. Overall, the results of this study provide considerable reason to be optimistic about the perceived clinical utility of the ICD‐11 among global clinicians.     

Fruit flies and intellectual disability

Mental retardation - more commonly known nowadays as intellectual disability - is a severe neurological condition affecting 3% of the general population. As a result of analysis of familial cases and recent advances in clinical genetic testing great strides have been made in our understanding of the genetic etiologies of mental retardation. Nonetheless, no treatment is currently clinically available to patients suffering from intellectual disability. Several animal models have been used in the study of memory and cognition. Established paradigms in Drosophila have recently captured cognitive defects in fly mutants for orthologs of genes involved in human intellectual disability. We review here three protocols designed to understand the molecular genetic basis of learning and memory in Drosophila and the genes identified so far with relation to mental retardation. In addition, we explore the mental retardation genes for which evidence of neuronal dysfunction other than memory has been established in Drosophila. Finally, we summarize the findings in Drosophila for mental retardation genes for which no neuronal information is yet available. All in all, this review illustrates the impressive overlap between genes identified in human mental retardation and genes involved in physiological learning and memory.     

Disorders related to sexuality and gender identity in the ICD‐11: revising the ICD‐10 classification based on current scientific evidence,best clinical practices,and human rights considerations

In the World Health Organization's forthcoming eleventh revision of the International Classification of Diseases and Related Health Problems (ICD‐11), substantial changes have been proposed to the ICD‐10 classification of mental and behavioural disorders related to sexuality and gender identity. These concern the following ICD‐10 disorder groupings: F52 Sexual dysfunctions, not caused by organic disorder or disease; F64 Gender identity disorders; F65 Disorders of sexual preference; and F66 Psychological and behavioural disorders associated with sexual development and orientation. Changes have been proposed based on advances in research and clinical practice, and major shifts in social attitudes and in relevant policies, laws, and human rights standards. This paper describes the main recommended changes, the rationale and evidence considered, and important differences from the DSM‐5. An integrated classification of sexual dysfunctions has been proposed for a new chapter on Conditions Related to Sexual Health, overcoming the mind/body separation that is inherent in ICD‐10. Gender identity disorders in ICD‐10 have been reconceptualized as Gender incongruence, and also proposed to be moved to the new chapter on sexual health. The proposed classification of Paraphilic disorders distinguishes between conditions that are relevant to public health and clinical psychopathology and those that merely reflect private behaviour. ICD‐10 categories related to sexual orientation have been recommended for deletion from the ICD‐11.     

Diagnosis and classification of disorders specifically associated with stress: proposals for ICD‐11

The diagnostic concepts of post‐traumatic stress disorder (PTSD) and other disorders specifically associated with stress have been intensively discussed among neuro‐ and social scientists, clinicians, epidemiologists, public health planners and humanitarian aid workers around the world. PTSD and adjustment disorder are among the most widely used diagnoses in mental health care worldwide. This paper describes proposals that aim to maximize clinical utility for the classification and grouping of disorders specifically associated with stress in the forthcoming 11th revision of the International Classification of Diseases (ICD‐11). Proposals include a narrower concept for PTSD that does not allow the diagnosis to be made based entirely on non‐specific symptoms; a new complex PTSD category that comprises three clusters of intra‐ and interpersonal symptoms in addition to core PTSD symptoms; a new diagnosis of prolonged grief disorder, used to describe patients that undergo an intensely painful, disabling, and abnormally persistent response to bereavement; a major revision of “adjustment disorder” involving increased specification of symptoms; and a conceptualization of “acute stress reaction” as a normal phenomenon that still may require clinical intervention. These proposals were developed with specific considerations given to clinical utility and global applicability in both low‐ and high‐income countries.     

The Unknown Role of Mental Health in Global Development

In this paper, the author contrasts the substantial impact of mental health problems on global disability with the limited attention and resources these problems receive. The author discusses possible reasons for the disparity: Compared to physical disorders, mental health problems are considered less important, perhaps due to lower priority of disorders that primarily cause dysfunction rather than mortality, and skepticism that mental disorders are treatable in low-resource countries. He argues that achieving improved global health and development requires addressing problems causing disability, particularly mental health problems among populations in which the common mental disorders are frequent due to deprivation, war, and disasters. The author contends that services addressing the common mental disorders could be made widely and relatively cheaply accessible if provided by non-professional workers at the community level.     

Nature and prevalence of combinations of mental disorders and their association with excess mortality in a population‐based cohort study

The nature and prevalence of combinations of mental disorders and their associations with premature mortality have never been reported in a comprehensive way. We describe the most common combinations of mental disorders and estimate excess mortality associated with these combinations. We designed a population‐based cohort study including all 7,505,576 persons living in Denmark at some point between January 1, 1995 and December 31, 2016. Information on mental disorders and mortality was obtained from national registers. A total of 546,090 individuals (10.5%) living in Denmark on January 1, 1995 were diagnosed with at least one mental disorder during the 22‐year follow‐up period. The overall crude rate of diagnosis of mental disorders was 9.28 (95% CI: 9.26‐9.30) per 1,000 person‐years. The rate of diagnosis of additional mental disorders was 70.01 (95% CI: 69.80‐70.26) per 1,000 person‐years for individuals with one disorder already diagnosed. At the end of follow‐up, two out of five individuals with mental disorders were diagnosed with two or more disorder types. The most prevalent were neurotic/stress‐related/somatoform disorders (ICD‐10 F40‐F48) and mood disorders (ICD‐10 F30‐F39), which – alone or in combination with other disorders – were present in 64.8% of individuals diagnosed with any mental disorder. Mortality rates were higher for people with mental disorders compared to those without mental disorders. The highest mortality rate ratio was 5.97 (95% CI: 5.52‐6.45) for the combination of schizophrenia (ICD‐10 F20‐F29), neurotic/stress‐related/somatoform disorders and substance use disorders (ICD‐10 F10‐F19). Any combination of mental disorders was associated with a shorter life expectancy compared to the general Danish population, with differences in remaining life expectancy ranging from 5.06 years (95% CI: 5.01‐5.11) to 17.46 years (95% CI: 16.86‐18.03). The largest excess mortality was observed for combinations that included substance use disorders. This study reports novel estimates related to the “force of comorbidity” and provides new insights into the contribution of substance use disorders to premature mortality in those with comorbid mental disorders.     

Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India

BACKGROUND:

Mental retardation (MR) is a heterogeneous dysfunction of the central nervous system exhibiting complex phenotypes and has an estimated prevalence of 1-3% in the general population. However, in about 50% of the children diagnosed with any form of intellectual disability or developmental delay the cause goes undetected contributing to idiopathic intellectual disability.

MATERIALS AND METHODS:

A total of 122 children with developmental delay/MR were studied to identify the microscopic and submicroscopic chromosome rearrangements by using the conventional cytogenetics and multiplex ligation dependent probe amplification (MLPA) analysis using SALSA MLPA kits from Microbiology Research Centre Holland [MRC] Holland.

RESULTS:

All the recruited children were selected for this study, after thorough clinical assessment and metaphases prepared were analyzed by using automated karyotyping system. None was found to have chromosomal abnormality; MLPA analysis was carried out in all subjects and identified in 11 (9%) patients.

CONCLUSION:

Karyotype analysis in combination with MLPA assays for submicroscopic micro-deletions may be recommended for children with idiopathic MR.     

Do mental health professionals use diagnostic classifications the way we think they do? A global survey

We report on a global survey of diagnosing mental health professionals, primarily psychiatrists, conducted as a part of the development of the ICD‐11 mental and behavioural disorders classification. The survey assessed these professionals' use of various components of the ICD‐10 and the DSM, their attitudes concerning the utility of these systems, and usage of “residual” (i.e., “other” or “unspecified”) categories. In previous surveys, most mental health professionals reported they often use a formal classification system in everyday clinical work, but very little is known about precisely how they are using those systems. For example, it has been suggested that most clinicians employ only the diagnostic labels or codes from the ICD‐10 in order to meet administrative requirements. The present survey was conducted with clinicians who were members of the Global Clinical Practice Network (GCPN), established by the World Health Organization as a tool for global participation in ICD‐11 field studies. A total of 1,764 GCPN members from 92 countries completed the survey, with 1,335 answering the questions with reference to the ICD‐10 and 429 to the DSM (DSM‐IV, DSM‐IV‐TR or DSM‐5). The most frequent reported use of the classification systems was for administrative or billing purposes, with 68.1% reporting often or routinely using them for that purpose. A bit more than half (57.4%) of respondents reported often or routinely going through diagnostic guidelines or criteria systematically to determine whether they apply to individual patients. Although ICD‐10 users were more likely than DSM‐5 users to utilize the classification for administrative purposes, other differences were either slight or not significant. Both classifications were rated to be most useful for assigning a diagnosis, communicating with other health care professionals and teaching, and least useful for treatment selection and determining prognosis. ICD‐10 was rated more useful than DSM‐5 for administrative purposes. A majority of clinicians reported using “residual” categories at least sometimes, with around 12% of ICD‐10 users and 19% of DSM users employing them often or routinely, most commonly for clinical presentations that do not conform to a specific diagnostic category or when there is insufficient information to make a more specific diagnosis. These results provide the most comprehensive available information about the use of diagnostic classifications of mental disorders in ordinary clinical practice.     

Focus: Rare Disease: Psychosocial Functioning in Siblings of Children With Rare Disorders Compared to Controls

Siblings of children with chronic disorders are at increased risk of psychosocial problems. The risk may be exacerbated when the chronic disorder is rare and limited medical knowledge is available, due to more uncertainty and feelings of isolation. We examined mental health, parent-child communication, child-parent relationship quality, and social support among 100 children aged 8 to 16 years (M age 11.5 years, SD = 2.2; 50.0% boys, 50.0% girls). Fifty-six were siblings of children with rare disorders, and 44 were controls. The siblings of children with rare disorders (herein, siblings) were recruited from a resource centre for rare disorders and comprised siblings of children with a range of rare disorders including neuromuscular disorders and rare chromosomal disorders with intellectual disability. Controls were recruited from schools. Self-reported child mental health was significantly poorer for siblings compared to controls (effect size difference d = 0.75). Parent-reported child mental health was not significantly different between the groups (d = -0.06 to 0.16). Most child-parent relationships (anxiety/avoidance; mothers/fathers) were significantly poorer for siblings compared to controls (d = 0.47 to 0.91). There was no difference between groups in anxious relation with mother. Parent-child communication was significantly poorer for siblings compared to controls (d = -0.87 to -0.75). Social support was significantly poorer for siblings compared to controls (d = 0.61). We conclude that siblings of children with rare disorders display more psychosocial problems than controls. Interventions are indicated to prevent further maladjustment for siblings.     

What is “functional impairment”? Disentangling disability from clinical significance

The formulation of disability (or “functional impairment”) is currently not operationalized in either the ICD or the DSM. In the DSM system, making a diagnosis depends on a conjoint assessment of symptoms and functioning, whereas the ICD keeps the disability construct separate from the diagnosis of mental disorders. We need an internationally agreed conceptualization between ICD and DSM in terms of better operationalization of disease and disability components. No functioning or disability should appear as part of the threshold of the diagnosis in either system.     

Public mental health: the time is ripe for translation of evidence into practice

Public mental health deals with mental health promotion, prevention of mental disorders and suicide, reducing mental health inequalities, and governance and organization of mental health service provision. The full impact of mental health is largely unrecognized within the public health sphere, despite the increasing burden of disease attributable to mental and behavioral disorders. Modern public mental health policies aim at improving psychosocial health by addressing determinants of mental health in all public policy areas. Stigmatization of mental disorders is a widespread phenomenon that constitutes a barrier for help-seeking and for the development of health care services, and is thus a core issue in public mental health actions. Lately, there has been heightened interest in the promotion of positive mental health and wellbeing. Effective programmes have been developed for promoting mental health in everyday settings such as families, schools and workplaces. New evidence indicates that many mental disorders and suicides are preventable by public mental health interventions. Available evidence favours the population approach over high-risk approaches. Public mental health emphasizes the role of primary care in the provision of mental health services to the population. The convincing evidence base for population-based mental health interventions asks for actions for putting evidence into practice.     

Estimation of association of <Emphasis Type="Italic">CNTN6</Emphasis> copy number variation with idiopathic intellectual disability

Analysis of the prevalence of copy number variations of the CNTN6 gene, recently selected as a new candidate gene for intellectual disorders, was performed. Real-time PCR did not detect any change in the number of CNTN6 gene copies in a group of 200 patients with impaired intellectual development. However, taking into account our data from the previous aCGH analysis and published data, the overall frequency of microdeletions and microduplications of CNTN6 was estimated as 1: 265 (0.4%). The common phenotypic features of 40 patients with microdeletions and microduplications of CNTN6 appeared to be the autism spectrum disorders, developmental delay, intellectual disability, seizures, cognitive impairment, cardiological defects, and behavioral problems.     

Detecting mental disorders in primary care

Managing mental health problems of people around the world is a major challenge for health workers as well as for policy makers. It is a particular problem for low- and middle-income countries for many reasons, especially due to lack of recourses.A computer-assisted interview, the GMHAT/PC (Global Mental Health Assessment Tool - Primary Care) has been developed to assist general practitioners and other health professionals to make a quick, convenient, and comprehensive, standardised mental health assessment. It has proved to be a reliable and valid tool in various studies. Its use by other health professionals may help in detecting and managing mental disorders in primary care and general health settings more effectively. The article outlines the development and potential use of the GMHAT/PC.     

Transdiagnostic risk of mental disorders in offspring of affected parents: a meta-analysis of family high-risk and registry studies

The offspring of parents with mental disorders are at increased risk for developing mental disorders themselves. The risk to offspring may extend transdiagnostically to disorders other than those present in the parents. The literature on this topic is vast but mixed. To inform targeted prevention and genetic counseling, we performed a comprehensive, PRISMA 2020-compliant meta-analysis. We systematically searched the literature published up to September 2022 to retrieve original family high-risk and registry studies reporting on the risk of mental disorders in offspring of parents with any type of mental disorder. We performed random-effects meta-analyses of the relative risk (risk ratio, RR) and absolute risk (lifetime, up to the age at assessment) of mental disorders, defined according to the ICD or DSM. Cumulative incidence by offspring age was determined using meta-analytic Kaplan-Meier curves. We measured heterogeneity with the I² statistic, and risk of bias with the Quality In Prognosis Studies (QUIPS) tool. Sensitivity analyses addressed the impact of study design (family high-risk vs. registry) and specific vs. transdiagnostic risks. Transdiagnosticity was appraised with the TRANSD criteria. We identified 211 independent studies that reported data on 3,172,115 offspring of parents with psychotic, bipolar, depressive, disruptive, attention-deficit/hyperactivity, anxiety, substance use, eating, obsessive-compulsive, and borderline personality disorders, and 20,428,575 control offspring. The RR and lifetime risk of developing any mental disorder were 3.0 and 55% in offspring of parents with anxiety disorders; 2.6 and 17% in offspring of those with psychosis; 2.1 and 55% in offspring of those with bipolar disorder; 1.9 and 51% in offspring of those with depressive disorders; and 1.5 and 38% in offspring of those with substance use disorders. The offspring's RR and lifetime risk of developing the same mental disorder diagnosed in their parent were 8.4 and 32% for attention-deficit/hyperactivity disorder; 5.8 and 8% for psychosis; 5.1 and 5% for bipolar disorder; 2.8 and 9% for substance use disorders; 2.3 and 14% for depressive disorders; 2.3 and 1% for eating disorders; and 2.2 and 31% for anxiety disorders. There were 37 significant transdiagnostic associations between parental mental disorders and the RR of developing a different mental disorder in the offspring. In offspring of parents with psychosis, bipolar and depressive disorder, the risk of the same disorder onset emerged at 16, 5 and 6 years, and cumulated to 3%, 19% and 24% by age 18; and to 8%, 36% and 46% by age 28. Heterogeneity ranged from 0 to 0.98, and 96% of studies were at high risk of bias. Sensitivity analyses restricted to prospective family high-risk studies confirmed the pattern of findings with similar RR, but with greater absolute risks compared to analyses of all study types. This study demonstrates at a global, meta-analytic level that offspring of affected parents have strongly elevated RR and lifetime risk of developing any mental disorder as well as the same mental disorder diagnosed in the parent. The transdiagnostic risks suggest that offspring of parents with a range of mental disorders should be considered as candidates for targeted primary prevention.     

Disability Mediates the Impact of Common Conditions on Perceived Health

Background

We examined the extent to which disability mediates the observed associations of common mental and physical conditions with perceived health.

Methods and Findings

WHO World Mental Health (WMH) Surveys carried out in 22 countries worldwide (n = 51,344 respondents, 72.0% response rate). We assessed nine common mental conditions with the WHO Composite International Diagnostic Interview (CIDI), and ten chronic physical with a checklist. A visual analog scale (VAS) score (0, worst to 100, best) measured perceived health in the previous 30 days. Disability was assessed using a modified WHO Disability Assessment Schedule (WHODAS), including: cognition, mobility, self-care, getting along, role functioning (life activities), family burden, stigma, and discrimination. Path analysis was used to estimate total effects of conditions on perceived health VAS and their separate direct and indirect (through the WHODAS dimensions) effects.Twelve-month prevalence was 14.4% for any mental and 51.4% for any physical condition. 31.7% of respondents reported difficulties in role functioning, 11.4% in mobility, 8.3% in stigma, 8.1% in family burden and 6.9% in cognition. Other difficulties were much less common. Mean VAS score was 81.0 (SD = 0.1). Decrements in VAS scores were highest for neurological conditions (9.8), depression (8.2) and bipolar disorder (8.1). Across conditions, 36.8% (IQR: 31.2–51.5%) of the total decrement in perceived health associated with the condition were mediated by WHODAS disabilities (significant for 17 of 19 conditions). Role functioning was the dominant mediator for both mental and physical conditions. Stigma and family burden were also important mediators for mental conditions, and mobility for physical conditions.

Conclusions

More than a third of the decrement in perceived health associated with common conditions is mediated by disability. Although the decrement is similar for physical and mental conditions, the pattern of mediation is different. Research is needed on the benefits for perceived health of targeted interventions aimed at particular disability dimensions.     

The WPA-WHO Global Survey of Psychiatrists�� Attitudes Towards Mental Disorders Classification

This article describes the results of the WPA-WHO Global Survey of 4,887 psychiatrists in 44 countries regarding their use of diagnostic classification systems in clinical practice, and the desirable characteristics of a classification of mental disorders. The WHO will use these results to improve the clinical utility of the ICD classification of mental disorders through the current ICD-10 revision process. Participants indicated that the most important purposes of a classification are to facilitate communication among clinicians and to inform treatment and management. They overwhelmingly preferred a simpler system with 100 or fewer categories, and over two-thirds preferred flexible guidance to a strict criteria-based approach. Opinions were divided about how to incorporate severity and functional status, while most respondents were receptive to a system that incorporates a dimensional component. Significant minorities of psychiatrists in Latin America and Asia reported problems with the cross-cultural applicability of existing classifications. Overall, ratings of ease of use and goodness of fit for specific ICD-10 categories were fairly high, but several categories were described as having poor utility in clinical practice. This represents an important focus for the ICD revision, as does ensuring that the ICD-11 classification of mental disorders is acceptable to psychiatrists throughout the world.