Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation

Two families, originally diagnosed as having nonsyndromic X-linked mental retardation (NSXLMR), were reviewed when it was shown that they had a 24-bp duplication (428-45 1dup(24bp)) in the ARX gene [Stromme et al., 2002: Nat Genet 30:441-445]. This same duplication had also been found in three other families: one with X-linked infantile spasms and hypsarrhythmia (X-linked West syndrome, MIM 308350) and two with XLMR and dystonic movements of the hands (Partington syndrome, MIM 309510). On review, manifestations of both West and Partington syndromes were found in some individuals from both families. In addition, it was found that one individual had autism and two had autistic behavior, one of whom had epilepsy. The degree of mental retardation ranged from mild to severe. A GCG trinucleotide expansion (GCG)10+7 and a deletion of 1,517 by in the ARX gene have also been found in association with the West syndrome, and a missense mutation (1058C >T) in a family with a newly recognized form of myoclonic epilepsy, severe mental retardation, and spastic paraplegia [Scheffer et al., 2002: Neurology, in press]. Evidently all these disorders are expressions of mutations in the same gene. It remains to be seen what proportions of patients with infantile spasms, focal dystonia, autism, epilepsy, and nonsyndromic mental retardation are accounted for by mutations in the ARX gene. (C) 2002 Wiley-Liss, Inc.

The prevention of mental disorders in young people

The prevention of some mental disorders in young people appears to be possible. Several small and medium randomised controlled trials show that some anxiety, affective and substance-use disorders can be prevented. These trials show that the interventions are efficacious, but whether they will be effective in routine practice is not known. The evidence is sufficiently good to warrant a large community trial in which the roll-out is staged and school communties evaluated before and after the roll-out.

Spontaneous and reflexive eye activity measures of mental workload

Measures of eye activity, such as blink rate and scanning patterns, have been used extensively as psychophysiological indices of mental workload. In a review of measures derived from spontaneous eye activity it is shown that different measures are differentially sensitive to specific aspects of mental workload. A less well-known measure of non-spontaneous eye activity, the blink reflex, is also reviewed. Experiments using discrete punctuate stimuli and continuous tasks analogous to real-world systems show that blink reflexes are modulated by attention and that this modulation reflects modality-specific attentional engagement. Future research should examine the utility of the blink reflex according to the desirable properties of sensitivity, diagnosticity, validity, reliability, ease of use, unobtrusiveness, and operator acceptance.

Effect of varying levels of mental workload on startle eyeblink modulation

Previous research using punctuate reaction time and counting tasks has found that the startle eyeblink reflex is sensitive to attentional demands. The present experiment explored whether startle eyeblink is also modulated during a complex continuous task and is sensitive to different levels of mental workload. Participants (N=14) performed a visual horizontal tracking task either alone (single-task condition) or in combination with a visual gauge monitoring task (multiple-task condition) for three minutes. On some task trials, the startle eyeblink reflex was elicited by a noise burst. Results showed that startle eyeblink was attenuated during both tasks and that the attenuation was greater during the multiple-task condition than during the single-task condition. Subjective ratings, endogenous eyeblink rate, heart period, and heart period variability provided convergent validity of the workload manipulations. The findings suggest that the startle eyeblink is sensitive to the workload demands associated with a continuous visual task. The application of startle eyeblink modulation as a workload metric and the possibility that it may be diagnostic of workload demands in different stimulus modalities is discussed.

Prevalence of mental disorders among sexual offenders and non-sexual offenders

OBJECTIVE: To evaluate the prevalence of mental disorders in convicted sex offenders admitted to the Psychiatric Custody and Treatment Hospital (Forensic Psychiatric Facility). METHOD: 89 patient records of males admitted from March 2005 to August 2006 were analyzed. The analysis included evaluation of two study groups: Group I comprised subjects who had committed sex offenses (sexual offenders) while Group II contained subjects convicted for other crimes (non-sexual offenders). Variables studied were: age bracket, years of schooling, marital status, skin color, place of birth, previous psychiatric admissions and psychiatric diagnosis. RESULTS: Mental retardation and personality disorders were the mainly diagnoses in Group I (sexual offenders) (61,76% and 29,41% respectively). In the other hand, schizophrenic subjects predominated in Group II (non-sexual offenders) (82,93%). CONCLUSION: Different from international data, we have found low prevalence of personality disorders among Brazilian forensic population and we believe that it's due to a distinguishing characteristic of the Brazilian legal system, which does not consider personality disorder a mental disease, thus, not prompting these patients to civil commitment.

Comorbidities of mental and behavioral disorders in chemically dependent patients in different periods of abstinence

OBJECTIVE: To assess the frequency of comorbidities of mental and behavioral disorders (CMBD) in psychoactive substance (PAS)-dependent patients with different periods of abstinence cared for at Alcohol and Other Drug Psychosocial Care Centers (CAPS-ad). METHOD: All patients under treatment in the two CAPS-ad of the city of Uberlândia-MG, between April and September 2010, were consecutively assessed. The ICD-10 symptom checklist was used to diagnose CMBD; additional information was obtained from interviews and medical records. The patients were divided according to duration of abstinence: < 1 week (Group 1); 1-4 weeks (Group 2); and > 4 weeks (Group 3). RESULTS: Of all patients assessed, 62.8% were diagnosed with CMBD, which were more frequent (p < 0.05) in Group 1 (72%) than Group 3 (54.2%), and both groups were similar to Group 2 (61%). Depressive and anxiety disorders were more frequent among patients of Group 1. Mood disorders were more frequent (p < 0.05) in women [22/34 (65%) vs. 54/154 (35.1%)], whereas psychotic disorders were more frequent (p = 0.05) in men [16/154 (10.4%) vs. 0]. The presence of CMBD was associated with more severe clinical conditions. CONCLUSIONS: The higher frequency of diagnosis of CMBD in patients of Group 1 may have resulted from the difficulties in distinguishing mental disorders that are due to PAS intoxication or withdrawal from those that are not. However, to make the diagnosis of CMBD, even during detoxification, can increase the likelihood of better response to treatment.

Prevalencia de Trastornos Mentales en consultantes de Centros de Atención Primaria de la Ciudad de Córdoba, Argentina.Prevalence of Mental Disorders among Consultants in Primary Health Care Centers of the City of Córdoba, Argentina

El informe de la Organización Mundial de la Salud (2001), refiere que en un plazo de 20 años los trastornos mentales pasarán a ser la segunda causa dentro de la carga de morbilidad a nivel mundial, y en la actualidad una de cada cuatro personas padece de algún trastorno mental en alguna etapa de su vida. Los estudios realizados en diversos países revelan que una proporción importante de los consultantes de la atención primaria en salud presentan algún tipo de trastornos mentales. Desde esta perspectiva, la atención primaria de la salud ofrece una oportunidad de intervenir en el manejo de los trastornos mentales de forma temprana y eficaz. En Argentina, es limitada la información acerca del registro epidemiológico en salud mental, no contando con estudios abordados desde la Atención Primaria en la provincia de Córdoba. El objetivo general del proyecto es estimar la prevalencia de trastornos mentales entre los consultantes de atención primaria por problemas de salud general. Para ello se propone: Estimar la prevalencia de trastornos mentales en una muestra representativa de consultantes adultos por problemas de salud general, de centros de atención primaria de la ciudad de Córdoba, identificar y describir los tipos de trastornos mentales que presentan estos consultantes adultos de centros de atención primaria y analizar la prevalencia de los trastornos mentales por sexo y edad de la población en estudio. Metodología: el estudio se realizará en consultorios de Atención Primaria de Salud distribuídos en todo el éjido de la ciudad, teniendo en cuenta la representación de las 12 zonas de CPC. La muestra es probabilística, estratificada, polietápica de pacientes que consultan en el primer nivel de atención. Se entrevistarán 1200 pacientes utilizando la versión computorizada del CIDI 3.0, que proporciona diagnóstico de acuerdo a la DSM IV y la CIE-10. La confiabilidad y la validez del instrumento ha sido ampliamente documentada y la traducción de la encuesta al español fue realizada conforme a las recomendaciones de la OMS. El análisis efectuado será de prevalencia de Trastornos Mentales y del Comportamiento (TMC),asociación entre factores sociodemográficos y TCM estimados calculando las razones de disparidad (odds ratio), regresión logística a fin de ajustar los resultados por la posible interacción entre variables, análisis de la asociación de todas las variables con los TMC, análisis univariado de la asociación de cada variable con los TMC, controlando sexo y edad, se construirá un modelo de regresión logística. En todos los casos el nivel de significación será de 0,05. El equipo de trabajo, de cooperación internacional entre profesionales de la UNC y de la Universidad de Chile, y con la participación en colaboración de los profesionales dependientes de la Secretaría de Salud de la municipalidad de Córdoba, representa un avance para trabajar en los centros de salud de esta ciudad, constituyéndose en un avance, cualitativo y cuantitativo de la actividad científica en Atención Primaria en salud mental con abordaje epidemiológico. Se espera contribuir al conocimiento acerca de la prevalencia de los problemas de salud mental de esta población en la ciudad de Córdoba, proporcionando información a los funcionarios y responsables por la gestión de las áreas vinculadas a la salud mental, aportando conocimiento que promueva una temprana identificación de riesgos iniciales en salud mental y conductas de cuidado en la población como potencial de bienestar.Así mismo, se espera sistematizar una experiencia que pueda ser replicada en otros sitios geográficos. Por todo lo anterior, esta propuesta permitirá conocer por primera vez en la ciudad de Córdoba la frecuencia y características de los problemas de salud mental entre consultantes de Atención Primaria, información fundamental para el desarrollo posterior de estrategias que busquen mejorar la detección y el tratamiento de estos problemas. According to the WHO Report (2001), in 20 years, mental health disorders (MHDs) will be the world’s second most frequent cause of morbidity. Primary care offers the opportunity to handle MHDs efficiently at an early stage. In Argentina, the epidemiologic data on mental health (MH) is limited, and there are no records for Córdoba. The aim of this project is to assess the prevalence of MHDs among consultants who resort to primary health centers (PHCCs) in the city of Córdoba for common health problems, by using a representative sample of adult consultants, identifying and describing the types of MHDs evinced, and analysing prevalence by sex and age group under study. Methodology:the study will be carried out in PHCCs located in the municipal area of Córdoba, covering the 12 zones corresponding to the CPCs (municipal branch offices for each zone). A multi-stage stratified random sample of 1200 patients will be interviewed using the program CIDI 3.0 to produce a diagnostic according to DSM IV and CIE-10, a tool with proven reliability and validity.The aspects to be analysed are prevalence of mental and behavior disorders, their association with socio-demographic factors estimated by odds ratios, logistic regression for adjustment of potential interaction among variables, association with all variables, and univariate analysis for association with each variable. Significance level will be 0.05 in all cases. The international teamwork including professionals from the Universities of Córdoba, Chile and the Public Health Department of the Municipality of Córdoba constitutes a qualitative and quantitative step forward in the field of primary health care studies with an epidemiologic approach. This project aims at providing administrators in the MH area with data for the early detection of initial risks in MH and the promotion of prevention habits. This will be the first study conducted in Córdoba, and is aimed at facilitating replication in other geographical areas.

Frequent users of emergency departments present very high prevalence of mental health and substance use disorders, which are largely underdiagnosed by clinicians

Background: The objective of this study was to determine if mental health and substance use diagnoses were equally detected in frequent users (FUs) compared to infrequent users (IUs) of emergency departments (EDs). Methods: In a sample of 399 adult patients (>= 18 years old) admitted to a teaching hospital ED, we compared the mental health and substance use disorders diagnoses established clinically and consigned in the medical files by the ED physicians to data obtained in face-to-face research interviews using the Primary Care Evaluation of Mental Disorders (PRIME-MD) and the Alcohol, Smoking and Involvement Screening Test (ASSIST). Between November 2009 and June 2010, 226 FUs (>4 visits within a year) who attended the ED were included, and 173 IUs (<= 4 visits within a year) were randomly selected from a pool of identified patients to comprise the comparison group. Results: For mental health disorders identified by the PRIME-MD, FUs were more likely than IUs to have an anxiety (34 vs. 16%, Chi2(1) = 16.74, p <0.001), depressive (47 vs. 25%, Chi2(1) = 19.11, p <0.001) or posttraumatic stress (PTSD) disorder (11 vs. 5%, Chi2(1) = 4.87, p = 0.027). Only 3/76 FUs (4%) with an anxiety disorder, 16/104 FUs (15%) with a depressive disorder and none of the 24 FUs with PTSD were detected by the ED medical staff. None of the 27 IUs with an anxiety disorder, 6/43 IUs (14%) with a depressive disorder and none of the 8 IUs with PTSD were detected. For substance use disorders identified by the ASSIST, FUs were more at risk than IUs for alcohol (24 vs. 7%, Chi2(1) = 21.12, p <0.001) and drug abuse/dependence (36 vs. 25%, Chi2(1) = 5.52, p = 0.019). Of the FUs, 14/54 (26%) using alcohol and 8/81 (10%) using drugs were detected by the ED physicians. Of the IUs, 5/12 (41%) using alcohol and none of the 43 using drugs were detected. Overall, there was no significant difference in the rate of detection of mental health and substance use disorders between FUs and IUs (Fisher's Exact Test: anxiety, p = 0.567; depression, p = 1.000; PTSD, p = 1.000; alcohol, p = 0.517; and drugs, p = 0.053). Conclusions: While the prevalence of mental health and substance use disorders was higher among FUs, the rates of detection were not significantly different for FUs vs. IUs. However, it may be that drug disorders among FUs were more likely to be detected.

Report of the Inspector of Mental Hospitals for 2001

] The Mental Treatment Act 1945 requires the inspection of every public psychiatric hospital and unit at least once a year, and of every private hospital and the Central Mental Hospital twice a year. These inspections were carried out on both announced and unannounced visits. In recent years, the number of un-announced visits has increased. The general format of an announced visit is that the Inspectorate, before beginning the inspection, meets with senior members of the service being inspected, bringing with it the statistical returns made by that service to the Department of Health and Children at the end of the preceding year and a copy of the health boardâ?Ts service plan in respect of the service.   Download document here

Report of the Inspector of Mental Hospitals for 2002

Report of the Inspector of Mental Hospitals for 2002 The Mental Treatment Act, 1945 requires the inspection of every public psychiatric hospital and unit at least once a year, and of every private hospital and the Central Mental Hospital twice a year. These inspections were carried out on both announced and unannounced visits. In recent years, the number of unannounced visits has increased. Click here to download PDF 2.1mb

Report of the Inspector of Mental Hospitals for 2002

Click here to download PDF

Report of the Inspector of Mental Hospitals for 2003

Click here to download PDF