Diagnostic Hierarchies Research Articles

Obsessive-Compulsive Disorder and Its Cross-Generational Familial Association With Anxiety Disorders in a National Swedish Extended Adoption Study

We know little about the transmission of obsessive-compulsive disorder (OCD) across generations. To evaluate the sources of parent-offspring transmission of OCD and familial cross-generational association with more typical anxiety disorders. This Swedish population register-based study analyzed data for offspring born in Sweden from 1960 to 1995 from the following 4 family types: intact, not-lived-with biological father, lived-with stepfather, and adoptive. Follow-up occurred on December 31, 2018, and data were analyzed from April 6, 2022, to September 26, 2022. Three sources of parent-offspring resemblance: genes plus rearing, genes only, and rearing only. Diagnoses of OCD, all anxiety disorders, generalized anxiety disorder (GAD), social phobia, and panic disorder were obtained from national inpatient, outpatient, and primary care medical registers. Parent-child resemblance was assessed by tetrachoric correlation (r). The offspring population consisted of 2 413 128 individuals; mean (SD) age at follow-up was 40.2 (10.7) years, 1 258 670 individuals (52.2%) were male, and 1 154 458 individuals (47.8%) were female. For each type of parent-child relationship, the best-estimate correlation for OCD for genes plus rearing was 0.19 (95% CI, 0.17 to 0.20); genes only, 0.18 (95% CI, 0.11 to 0.24); and rearing only, 0.04 (95% CI, -0.10 to 0.19). From bivariate adoption analyses, the cross-generational genetic correlations between OCD with anxiety disorder diagnostic categories were estimated as follows: for all anxiety disorders, 0.62 (95% CI, 0.46 to 0.77); GAD, 0.87 (95% CI, 0.53 to 1.00); social phobia, 0.70 (95% CI, 0.31 to 1.00); and panic disorder, 0.47 (95% CI, 0.20 to 0.73). This Swedish population register-based study found that OCD was transmitted from parents to children largely through a genetic relationship, with rearing playing a minor role. Viewed cross-generationally, OCD and anxiety disorders were moderately genetically correlated, with the genetic correlations strongest between OCD and GAD, intermediate for OCD and social phobia, and weakest between OCD and panic disorder. These genetic correlations were modestly attenuated when diagnostic hierarchies were imposed before analysis.

EVIDENCE LEVEL AND DIAGNOSTIC EFFICACY OF STUDIES USING CBCT PUBLISHED IN THE DENTOMAXILLOFACIAL RADIOLOGY JOURNAL

Objectives To verify the characteristics of articles that use cone beam computed tomography published in Dentomaxillofacial Radiology and investigate their levels of evidence and diagnostic efficacy hierarchies. Study Design Bibliometric analysis of articles published between 2010 and 2020 was carried out by 3 calibrated reviewers who independently selected the articles according to the eligibility criteria. Demographic and methodological variables were collected and subsequently analyzed to verify the levels of evidence and diagnostic efficacy hierarchies of the studies. Results Of the 262 articles included, most were published between 2012 and 2013 (n = 70), with origins in Brazil (16.8%). Experimental laboratory research (32.8%), cross-sectional (27.5%), and diagnostic accuracy (22.1%) studies were prevalent. Only 186 articles could be classified with the study design hierarchy. The levels of technical efficacy prevailed (53%), followed by the efficacy of diagnostic accuracy (30%), and there was an association with the type of study design (P < .000). Conclusions The sample articles were about technical resources and the diagnostic capacity of the technique, in the form of experimental laboratory and observational studies with cross-sectional designs or diagnostic accuracy. Most studies have a low power of evidence and a low level of diagnostic efficacy for clinical decision making. To verify the characteristics of articles that use cone beam computed tomography published in Dentomaxillofacial Radiology and investigate their levels of evidence and diagnostic efficacy hierarchies. Bibliometric analysis of articles published between 2010 and 2020 was carried out by 3 calibrated reviewers who independently selected the articles according to the eligibility criteria. Demographic and methodological variables were collected and subsequently analyzed to verify the levels of evidence and diagnostic efficacy hierarchies of the studies. Of the 262 articles included, most were published between 2012 and 2013 (n = 70), with origins in Brazil (16.8%). Experimental laboratory research (32.8%), cross-sectional (27.5%), and diagnostic accuracy (22.1%) studies were prevalent. Only 186 articles could be classified with the study design hierarchy. The levels of technical efficacy prevailed (53%), followed by the efficacy of diagnostic accuracy (30%), and there was an association with the type of study design (P < .000). The sample articles were about technical resources and the diagnostic capacity of the technique, in the form of experimental laboratory and observational studies with cross-sectional designs or diagnostic accuracy. Most studies have a low power of evidence and a low level of diagnostic efficacy for clinical decision making.

Clinical research and diagnostic efficacy studies in the oral and maxillofacial radiology literature: 1996–2005

The aim of this study was to determine the level of evidence that is published in the oral and maxillofacial radiology (OMR) literature. OMR papers published in Dentomaxillofacial Radiology and Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontology between 1996 and 2005 were classified using epidemiological study design and diagnostic efficacy hierarchies. The country of origin and number of authors were noted. Of the 725 articles, 384 could be classified with the epidemiological study design hierarchy: 155 (40%) case reports/series and 207 (54%) cross-sectional studies. The distribution of study designs was not statistically significant across time (Fisher's exact test, P = 0.06) or regions (P = 0.89). The diagnostic efficacy hierarchy was applicable to 246 articles: 71 (29%) technical efficacy and 166 (67%) diagnostic accuracy studies. The distribution of efficacy levels was not statistically significant across time (P = 0.22) but was significant across regions (P < 0.01). Authors from Japan produced 26% of the papers with a mean ± standard deviation of 5.78 ± 1.98 authors per paper (APP); American authors, 23% (3.78 ± 1.72 APP); and all others, 51% (3.76 ± 1.51 APP). The OMR literature consisted mostly of case reports/series, cross-sectional, technical efficacy and diagnostic accuracy studies. Such studies do not provide strong evidence for clinical decision making nor do they address the impact of diagnostic imaging on patient care. More studies at the higher end of the study design and efficacy hierarchies are needed in order to make wise choices regarding clinical decisions and resource allocations.

Agoraphobia and Panic

Background: The relationship of panic attacks (PA), panic disorder (PD) and agoraphobia (AG) is controversial. The aim of the current study is to prospectively examine the 10-year natural course of PA, PD and AG in the first three decades of life, their stability and their reciprocal transitions. Methods: DSM-IV syndromes were assessed via Composite International Diagnostic Interview – Munich version in a 10-year prospective-longitudinal community study of 3,021 subjects aged 14–24 years at baseline. Results: (1) Incidence patterns for PA (9.4%), PD (with and without AG: 3.4%) and AG (5.3%) revealed differences in age of onset, incidence risk and gender differentiation. (2) Temporally primary PA and PD revealed only a moderately increased risk for subsequent onset of AG, and primary AG had an even lower risk for subsequent PA and PD. (3) In strictly prospective analyses, all baseline groups (PA, PD, AG) had low remission rates (0–23%). Baseline PD with AG or AG with PA were more likely to have follow-up AG, PA and other anxiety disorders and more frequent complications (impairment, disability, help-seeking, comorbidity) as compared to PD without AG and AG without PA. Conclusions: Differences in incidence patterns, syndrome progression and outcome, and syndrome stability over time indicate that AG exists as a clinically significant phobic condition independent of PD. The majority of agoraphobic subjects in this community sample never experienced PA, calling into question the current pathogenic assumptions underlying the classification of AG as merely a consequence of panic. The findings point to the necessity of rethinking diagnostic concepts and DSM diagnostic hierarchies.

Hierarchical relationships between borderline, schizotypal, avoidant and obsessive–compulsive personality disorders

Comorbidity among personality disorders is widely considered problematic. The validity of one proposed solution, diagnostic hierarchies, was investigated in the current study with respect to borderline, schizotypal, avoidant, and obsessive-compulsive personality disorders. One approach used discriminant functions, derived from multiple psycho-social domains, that were used to classify comorbid individuals from the Collaborative Longitudinal Personality Disorder study (CLPS) to explore the possibility of hierarchical precedence of one personality disorder over another. A second approach examined the incremental increase in R(2)-value in predicting functioning and personality provided by each diagnosis over each other diagnosis. Obsessive-compulsive personality disorder was consistently subordinate to other diagnoses, whereas other indications of hierarchical relationships were domain-specific. Results indicate minimal support for an over-arching hierarchical pattern among studied personality disorders, and suggest the inclusion of all relevant diagnoses in clinical practice.

A twin study of genetic relationships between psychotic symptoms.

Biometrical model fitting was applied to clinical data from twins to investigate whether operationally defined schizophrenic, schizoaffective, and manic syndromes share genetic risk factors. Seventy-seven monozygotic and 89 same-sex dizygotic twin pairs in which the proband met the Research Diagnostic Criteria (RDC) for lifetime-ever schizophrenic, schizoaffective, or manic syndrome were ascertained from the Maudsley Twin Register in London. The syndromes were defined non-hierarchically. Correlations in liability were calculated for each syndrome in the monozygotic and dizygotic pairs and across the three pairings of schizophrenic-manic, schizophrenic-schizoaffective, and schizoaffective-manic syndromes both within probands and within pairs. For the three syndromes considered together, an independent pathway model was fitted. The model fitting showed significant genetic correlations between all three syndromes. There was evidence of both common and syndrome-specific genetic contributions to the variance in liability to the schizophrenic and manic syndromes, but the genetic liability to the schizoaffective syndrome was entirely shared in common with the other two syndromes. In contrast, environmental liability to the schizoaffective syndrome was not shared with the other syndromes. If diagnostic hierarchies are relaxed, there is a degree of overlap in the genes contributing to RDC schizophrenic, schizoaffective, and manic syndromes. Supplementing the traditional approach of assigning a single main lifetime diagnosis with information on within-person comorbidity of psychotic syndromes may provide valuable information about the familial aggregation of psychotic symptoms.

Frameworks and methods in diagnosing autism spectrum disorders

Recent issues and research addressing conceptualizations of diagnostic frameworks for autism spectrum disorders are discussed. Strengths of current systems, including comparability across international criteria, attention to developmental variation, and broader inclusion of individuals with social-communicative dysfunction are highlighted. Controversial issues, including difficulties in identifying thresholds for pervasive developmental disorders other than autism, implications of age of onset, and the appropriateness of diagnostic hierarchies, are also considered. Specific instruments for diagnosis are discussed in terms of current conceptualizations of autism spectrum disorders. MRDD Research Reviews 1998;4:90–96. © 1998 Wiley-Liss, Inc.

Frameworks and methods in diagnosing autism spectrum disorders

Recent issues and research addressing conceptualizations of diagnostic frameworks for autism spectrum disorders are discussed. Strengths of current systems, including comparability across international criteria, attention to developmental variation, and broader inclusion of individuals with social-communicative dysfunction are highlighted. Controversial issues, including difficulties in identifying thresholds for pervasive developmental disorders other than autism, implications of age of onset, and the appropriateness of diagnostic hierarchies, are also considered. Specific instruments for diagnosis are discussed in terms of current conceptualizations of autism spectrum disorders. MRDD Research Reviews 1998;4:90–96. © 1998 Wiley-Liss, Inc.

Stability of diagnosis: application to phenotype definition.

Using diagnostic stability data from independent diagnostic interviews conducted 6 years apart, we determine which diagnoses are predictive of diagnoses 6 years later. Logistic analysis using categorical predictors is used to establish ordinal relationships and to suggest diagnostic hierarchies. The multiple-threshold multifactorial model is used to estimate the within-person correlation over time. Rather than use a simple dichotomy of "affected" or "unaffected," we provide odds ratios for mania, hypomania, and major depressive disorder in terms of diagnostic hierarchies, allowing a ranking of these diagnoses. This division increases the information for genetic studies or studies of a phenotype with correlated biological or environmental continuous covariates. The diagnosis of schizophrenia shows remarkable specificity across occasions. We find significant error in a cross-sectional assessment in this nonclinical sample. Assuming a multifactorial model, the proportion of variance in liability due to assessment error is approximately 30 percent under all schemes considered. The use of repeated measures in family studies is thus strongly recommended.

Report of a Workshop on Genetic Linkage Studies in Schizophrenia

A workshop on genetic linkage studies in schizophrenia was held at Columbia University's Arden House Conference Center in October 1989. This report summarizes the contents of invited talks by Drs. Arno Motulsky and T. Conrad Gilliam and the discussions at the five workshop sessions. Topics of the workshop sessions were (1) diagnostic boundaries and hierarchies in schizophrenia, (2) genetic models and linkage parameters, (3) selection and ascertainment of pedigrees, (4) future extensions of molecular genetics strategies, and (5) possibilities for future collaboration.

The impact of diagnostic hierarchies on prevalence estimates for psychiatric disorders

This article presents an algebraic treatment of the impact of diagnostic hierarchies on the estimation of prevalence rates of psychiatric disorders. A method for correcting for this “hierarchy effect” is developed and illustrated. Using the terminology of Boyd et al., when the dominant disorder is common and/or the odds ratio for the dominant and the excluded disorders is high, the observed prevalence of an excluded disorder can substantially underestimate its true prevalence. This “hierarchy effect” can be particularly important in genetic-epidemiologic investigations which compare the prevalence of an excluded disorder in two populations which differ in the prevalence of the dominant disorder. The impact of certain kinds of diagnostic hierarchies can be easily understood and corrected for; with others, particularly those based on etiologic assumptions, a straight-forward interpretation is not always possible.

Revised diagnostic criteria and a new structured interview for diagnosing anxiety disorders

In recent years there has been a growing interest in the diagnosis and treatment of Anxiety Disorders. A fundamental assumption of the newer treatments is the identification of specific subtypes of Anxiety Disorders. Although the DSM-III classification of Anxiety Disorders is widely accepted, research experience since its publication in 1980 has indentified many problems with the classification and diagnostic criteria for the individual Anxiety Disorders. This paper discusses these problems and solutions proposed by an advisory committee to the American Psychiatric Association Work Group to Revise DSM-III. This paper also describes a new structured diagnostic interview that can be used to make the DSM-III-R Anxiety Disorders diagnoses in adults: the Structured Clinical Interview for DSM-III-R (SCID). The revised DSM-III-R criteria are embedded in this interview, which is modelled on the clinical diagnostic interview. Amongst the problems found in the DSM-III is that of multiple diagnoses and hierarchies. Although multiple diagnoses are encouraged where appropriate, the classification is organized hierarchically so that more pervasive disorders exclude the additional diagnosis of syndromes considered symptomatic of the more pervasive disorder. The exclusion criteria for the various disorders, which operationalize this hierarchical structure, have been criticized on various grounds, and research data on the concurrence of different syndromes suggest that the revision of DSM-III might do well to eliminate some of the diagnostic hierarchies that prevent the joint diagnosis of different syndromes. Revisions that address these concerns are proposed in the exclusion criteria for most of the Anxiety Disorders. Revisions are also proposed in the inclusion criteria for several of the Anxiety Disorders, based upon clinical and research experience with the DSM-III criteria since its publication.

DSM-III-R: En oversikt

The article reviews the major differences between DSM-III and DSM-III-R. In DSM-III-R the elimination of many of the diagnostic hierarchies which occurred in DSM-Ill makes multiple diagnoses a probability in anyone episode of illness. This renders the use of decision-trees less exclusive to the clinician and increases the need for good knowledge of all the diagnostic possibilities of one episode of illness. Thus, from a research point of view, the appropriate use of DSM-III-R in clinical studies is difficult without the application of structured interviews covering all diagnostic possibilities. Although several of the revisions made in the diagnostic criteria in DSM-III-R compared with DSM-III appear clinically valid, the majority made in DSM-III-R have not been sufficiently validated by clinical research. It is also important to note that some of the diagnostic criteria in DSM-III-R differ from those in DSM-III to such an extent that comparisons between DSM-III and DSM-III-R diagnoses with equal » label « are rendered meaningless (e.g. melancholic subtype of depression). These facts suggest the need for the provision of diagnoses of mental disorders according to additional classification systems in future clinical and research reports.