Genome-wide association study of body mass index in 23 000 individuals with and without asthma.

BACKGROUND: Both asthma and obesity are complex disorders that are influenced by environmental and genetic factors. Shared genetic factors between asthma and obesity have been proposed to partly explain epidemiological findings of co-morbidity between these conditions. OBJECTIVE: To identify genetic variants that are associated with body mass index (BMI) in asthmatic children and adults, and to evaluate if there are differences between the genetics of BMI in asthmatics and healthy individuals. METHODS: In total, 19 studies contributed with genome-wide analysis study (GWAS) data from more than 23 000 individuals with predominantly European descent, of whom 8165 are asthmatics. RESULTS: We report associations between several DENND1B variants (P = 2.2 × 10(-7) for rs4915551) on chromosome 1q31 and BMI from a meta-analysis of GWAS data using 2691 asthmatic children (screening data). The top DENND1B single nucleotide polymorphisms(SNPs) were next evaluated in seven independent replication data sets comprising 2014 asthmatics, and rs4915551 was nominally replicated (P < 0.05) in two of the seven studies and of borderline significance in one (P = 0.059). However, strong evidence of effect heterogeneity was observed and overall, the association between rs4915551 and BMI was not significant in the total replication data set, P = 0.71. Using a random effects model, BMI was overall estimated to increase by 0.30 kg/m(2) (P = 0.01 for combined screening and replication data sets, N = 4705) per additional G allele of this DENND1BSNP. FTO was confirmed as an important gene for adult and childhood BMI regardless of asthma status. CONCLUSIONS AND CLINICAL RELEVANCE: DENND1B was recently identified as an asthma susceptibility gene in a GWAS on children, and here, we find evidence that DENND1B variants may also be associated with BMI in asthmatic children. However, the association was overall not replicated in the independent data sets and the heterogeneous effect of DENND1B points to complex associations with the studied diseases that deserve further study.

Genetic repositories for the study of major psychiatric conditions: what do we know about ethnic minorities' genetic vulnerability?

In spite of considerable efforts, no genes of major effect have been found across an entire diagnostic category in psychiatry. Possible reasons for this may include difficulties in defining the phenotype, the complex relationship between genotype and gene expression and population stratification. This last problem has often been managed by restricting genetic sampling to only one ethnic group. An unintended consequence of using this strategy is that the major repositories of genetic material for the study of psychiatric conditions in the United States suffer from a paucity of genetic samples from non-Caucasian groups. Thus, these groups are being relatively understudied in terms of the genetic antecedents to psychiatric disease. The authors provide solutions including the need to augment the representation of African-American, Latino and Asian-Americans among research participants; a more nuanced approach to identify ancestry; and the development of analytic and genetic strategies to handle the issue of ethnic heterogeneity in samples.

Psychometric evaluation of the Spanish version of CONNECT: a measure of continuity of care in mental health services.

This article provides the results of the psychometric testing of the Spanish version of CONNECT(-S), a measure of continuity of care in mental health services. CONNECT-S is a multidimensional measure designed for use with seriously mentally ill respondents. Consisting of 12 scales and one single-item indicator, it addresses qualities of interaction in current relationships between mental health service providers and consumers in five conceptual domains: (1) practitioner knowledge of their clients, (2) creating flexibility, (3) practitioner availability, (4) practitioner co-ordination, and (5) smoothing transitions. One-hundred-and-fifty participants took part in the study. Participants were recruited from mental health outpatient clinics in both the Puerto Rican (n = 109) and the San Antonio (n = 41) samples. Internal consistency for scales in a combined site estimate ranged from 0.68 to 0.96. Test-retest reliability ranged from fair to substantial in all but one scale. Concurrent validity hypotheses based on a priori predictions were mostly supported. The Spanish translation and adaptation of CONNECT-S provided sound psychometric results across both sites. CONNECT-S addresses the gap in measurement of continuity of care for the two largest US Latino subgroups, Mexican Americans and Puerto Ricans; and provides an encouraging starting point for a measure that is both relevant and culturally sensitive.

Further measures of the psychometric properties of the Children's Global Assessment Scale.

The Children's Global Assessment Scale (CGAS), a measure of overall severity of disturbance, is an adaptation of the Global Assessment Scale for adults. Data obtained on the CGAS during a pilot study in Puerto Rico demonstrate high interrater reliability and both concurrent and discriminant validity. A discriminant function was generated that highly correlates with other measures of impairment. Use of the CGAS can be of heuristic value to complement other methods of diagnostic categorization.

Test-retest reliability of the Diagnostic Interview Schedule for Children (DISC 2.1). Parent, child, and combined algorithms.

BACKGROUND: Previous research has not compared the psychometric properties of diagnostic interviews of community samples and clinically referred subjects within a single study. As part of a multisite cooperative agreement study funded by the National Institute of Mental Health, 97 families with clinically referred children and 278 families identified through community sampling procedures participated in a test-retest study of version 2.1 of the Diagnostic Interview Schedule for Children (DISC 2.1). METHODS: The DISC was separately administered to children and parents, and diagnoses were derived from computer algorithms keyed to DSM-III-R criteria. Three sets of diagnoses were obtained, based on parent information only (DISC-P), child information only (DISC-C), and information from either or both (DISC-PC). RESULTS: Test-retest reliabilities of the DISC-PC ranged from moderate to substantial for diagnoses in the clinical sample. Test-retest kappa coefficients were higher for the clinical sample than for the community sample. The DISC-PC algorithm generally had higher reliabilities than the algorithms that relied on single informants. Unreliability was primarily due to diagnostic attenuation at time 2. Attenuation was greatest among child informants and less severe cases and in the community sample. CONCLUSIONS: Test-retest reliability findings were consistent with or superior to those reported in previous studies. Results support the usefulness of the DISC in further clinical and epidemiologic research; however, closely spaced or repeated DISC interviews may result in significant diagnostic attenuation on retest. Further studies of the test-retest attenuation phenomena are needed, including careful examination of the child, family, and illness characteristics of diagnostic stability.

Estimates of the prevalence of childhood maladjustment in a community survey in Puerto Rico. The use of combined measures.

A two-stage epidemiologic survey was carried out on a probability sample of the population aged 4 through 16 years in Puerto Rico. The survey used the Child Behavior Checklist as a screening instrument, and prevalence rates were estimated on the basis of clinical diagnoses and other measures provided by child psychiatrists during the second stage. Maladjustment was operationally defined through the use of combined measures, including DSM-III diagnosis and a scale of functional impairment. Data were provided on the demographic correlates of maladjustment and on the comorbidity of DSM-III diagnostic domains. The prevalence rates obtained vis-à-vis the availability of mental health services on the island reflected a major public health problem.

The Spanish Diagnostic Interview Schedule. Reliability and concordance with clinical diagnoses in Puerto Rico.

A Spanish translation of the Diagnostic Interview Schedule (DIS) was assessed using samples of Puerto Rican patients and community subjects from the San Juan area. Concordance between DIS results from psychiatrists' interviews and from laypersons' interviews was similar to results with the DIS in mainland samples. Comparisons of laypersons' DIS results with psychiatrists' clinical diagnoses yielded generally poorer agreement. Levels of agreement improved when diagnoses were clustered into higher-rank categories. These results raise cultural issues related to the use of the DIS in Puerto Rico.

The prevalence of specific psychiatric disorders in Puerto Rico.

An epidemiologic survey of the lifetime and six-month prevalence rates of several psychiatric disorders was conducted in Puerto Rico. This study, carried out in 1984, applied selected schedules of a Spanish translation of the Diagnostic Interview Schedule to a stratified, island-wide probability sample of the population. With few exceptions, prevalence rates in this study were similar to those obtained in the US communities studied in the Epidemiologic Catchment Area program. The demographic correlates of the disorders are reviewed, and differences between the results of this study and those of previous studies suggesting a higher rate of mental disorder among Puerto Rican populations are discussed.

Alcoholism--North America and Asia. A comparison of population surveys with the Diagnostic Interview Schedule.

The Diagnostic Interview Schedule (DIS) is a highly structured instrument that enables lay examiners to gather the clinical information necessary to generate psychiatric disorders according to the DSM-III, Feighner, and Research Diagnostic Criteria. It was developed originally as the diagnostic interview for the Epidemiologic Catchment Area (ECA) survey. Because it adheres to DSM-III and can be used by lay interviewers, thus making it practical for studies involving large samples, it has been used for other population surveys in North and South America, Europe, and Asia. This investigation compares the epidemiology of DSM-III-defined alcohol abuse and addiction in DIS-based population surveys cross-nationally (in St Louis, Mo; Edmonton, Canada; Puerto Rico; Taipei City, Taiwan; and South Korea). We found considerable variation in the lifetime prevalence of alcoholism but a similarity in the age of onset, the symptomatic expression, and the associated risk factors. We also found an inverse correlation between the prevalence of alcoholism and the strength of the association of the risk factors we examined. The work described herein demonstrates the utility of consistent definition and method in cross-cultural psychiatric research. The substantive findings have implications for the definition of alcoholism and for a better understanding of genetic and environmental interactions in its etiology.

The cross-national epidemiology of panic disorder.

BACKGROUND: Epidemiological data on panic disorder from community studies from 10 countries around the world are presented to determine the consistency of findings across diverse cultures. METHOD: Data from independently conducted community surveys from 10 countries (the United States, Canada, Puerto Rico, France, West Germany, Italy, Lebanon, Taiwan, Korea, and New Zealand), using the Diagnostic Interview Schedule and DSM-III criteria and including over 40,000 subjects, were analyzed with appropriate standardization for age and sex differences among subjects from different countries. RESULTS: The lifetime prevalence rates for panic disorder ranged from 1.4 per 100 in Edmonton, Alberta, to 2.9 per 100 in Florence, Italy, with the exception of that in Taiwan, 0.4 per 100, where rates for most psychiatric disorders are low. Mean age at first onset was usually in early to middle adulthood. The rates were higher in female than male subjects in all countries. Panic disorder was associated with an increased risk of agoraphobia and major depression in all countries. CONCLUSIONS: Panic disorder is relatively consistent, with a few exceptions, in rates and patterns across different countries. It is unclear why the rates of panic and other psychiatric disorders are lower in Taiwan.

Somatic symptoms after a natural disaster: a prospective study.

The authors prospectively examined the prevalence of somatization symptoms among community respondents after a natural disaster in Puerto Rico. Exposure to the disaster was related to a higher prevalence of medically unexplained physical symptoms, particularly gastrointestinal ones (abdominal pain, vomiting, nausea, excessive gas) and pseudoneurological ones (amnesia, paralysis, fainting, unusual spells/double vision).

Familial idiopathic intracranial hypertension with spinal and radicular pain.

OBJECTIVE: To describe a mother and her 2 sons affected by idiopathic intracranial hypertension (IIH), associated in the sons with root irritation symptom. Unlike the other 4 families reported previously, obesity was not present in our patients. DESIGN: Case reports. SETTING: Department of pediatrics in a university school of Medicine, Naples, Italy. PATIENTS: A mother (aged 36 years) and her 2 sons (aged 14 and 9 years) developed IIH at different times. Neuroimaging showed an empty sella in the mother, while IIH was associated with spinal and radicular pain in her 2 sons. The mother and the younger son developed permanent visual loss. CONCLUSIONS: Ophthalmologic follow-up in our patients indicates that IIH is a chronic disease. Surgical treatment should be considered an option.

The cross national epidemiology of obsessive compulsive disorder. The Cross National Collaborative Group.

Data on the epidemiology of psychiatric disorders from different parts of the world using similar methods and diagnostic criteria have previously not been available. This article presents data on lifetime and annual prevalence rates, age at onset, symptom profiles, and comorbidity of obsessive compulsive disorder (OCD), using DSM-III criteria, from community surveys in seven countries: the United States, Canada, Puerto Rico, Germany, Taiwan, Korea, and New Zealand. The OCD annual prevalence rates are remarkably consistent among these countries, ranging from 1.1/100 in Korea and New Zealand to 1.8/100 in Puerto Rico. The only exception is Taiwan (0.4/100), which has the lowest prevalence rates for all psychiatric disorders. The data for age at onset and comorbidity with major depression and the other anxiety disorders are also consistent among countries, but the predominance of obsessions or compulsions varies. These findings suggest the robustness of OCD as a disorder in diverse parts of the world.

Screening for childhood psychopathology in the community using the Child Behavior Checklist.

One of the uses of the Child Behavior Checklist is as a screening instrument for childhood psychopathology in two-phase designs. The present report involves a two-phase epidemiological survey conducted in Puerto Rico in which the CBCL was used as a screening instrument during the first stage, and children were evaluated clinically during the second stage. The data indicate that in using the CBCL for screening for psychopathology in children, parent information is most informative, particularly for children in the adolescent age group. Nevertheless, the data also reinforce the need to obtain teacher information with the Teacher Report Form to enhance screening sensitivity. In this population, the data obtained with the Youth Self-Report were found to be of limited usefulness for screening purposes.

Are attentional-hyperactivity deficits unidimensional or multidimensional syndromes? Empirical findings from a community survey.

Factor analysis on teacher ratings of symptoms in a probability community sample of children aged 6 to 16 years (N = 614) yielded two factors: Inattention and Hyperactivity-Impulsivity. Subsequent cluster analyses on the scores of factorially derived scales for a subsample of 170 children with a diagnosis of attention deficit disorder with (ADDH) and without hyperactivity (ADDWO), or normals, resulted in five clusters that accounted for 88% of the variance. The existence of these clusters was confirmed using external validating criteria. The data support a bidimensional conceptualization of attention deficit disorder with hyperactivity, one dimension consisting of symptoms of inattention and another of symptoms of hyperactivity-impulsivity. The data also suggests that a condition very similar to the DSM-III-R description of undifferentiated attention-deficit disorder also exists as a distinct entity.

Epidemiological comparisons of Puerto Rican and U.S. mainland children: parent, teacher, and self-reports.

U.S. mainland and Puerto Rican nonreferred samples were compared via the Child Behavior Checklist (ages 4 to 16), Teacher's Report Form (ages 6 to 16), and Youth Self-Report (ages 12 to 16). Problem scores were significantly higher in parent and teacher ratings of Puerto Rican than mainland subjects, but were significantly lower in self-ratings by Puerto Rican adolescents. Adolescents in both cultures reported significantly more problems than their parents or teachers did. Most of the significant cross-cultural differences in parent, teacher, and self-ratings of competencies showed more favorable scores for the mainland subjects. High referral rates, a high prevalence of DSM diagnoses, and low scores on the Children's Global Assessment Scale are consistent with the high problem rates reported by Puerto Rican parents and teachers but not with the lower rates reported by adolescents. Different clinical cutoffs may be needed for all assessments in the mainland versus Puerto Rico.

Children of parents with psychiatric disorder in the community.

The relationship between parental psychopathology and risk for maladjustment in the offspring was investigated in a community sample. The children of 130 parents who met criteria for 12 DIS/DSM-III disorders were compared to the children of 235 normal parents. Significantly more children of disturbed parents were functionally impaired and had higher scores in the parent and youth Child Behavior Checklist total behavior scores as compared to children of normal parents. These associations were maintained even after accounting for an adverse family environment, suggesting a strong relationship between parental and childhood psychopathology as well as a mediating influence of environmental adversity.

Risk factors for maladjustment in Puerto Rican children.

Data are presented on risk factors for childhood psychopathology derived from a study of an island-wide probability sample of children in Puerto Rico aged 4 through 16 years. Analyses estimated the effects of 12 demographic, health, and family variables on the probability of being a "case," using two different operational definitions of caseness, as well as on the probability of receiving the diagnoses of oppositional disorder, attention deficit disorder, separation anxiety, depression, functional enuresis, and adjustment disorder. When compared to other findings, the results from these analyses indicate that the relationship between maladjustment and the risk factors evaluated does not appear to be culturally specific.

Impairment in the epidemiological measurement of childhood psychopathology in the community.

The desirability of incorporating a measure of impairment to the categorization of childhood psychopathology in the community is examined. The use of the Children's Global Assessment Scale (CGAS) for this purpose is recommended. The choice of 61 (definite case) and 71 (probable case) as cutpoints on the Children's Global Assessment Scale is supported empirically by the data on service utilization, parental perceived need, and behavior problem scores obtained in the Puerto Rico Child Psychiatry Epidemiological Study.