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Mauro V Mendlowicz

Publications and source records attributed to Mauro V Mendlowicz.

At least 19 recordsLinked to original sources
PubMed2006

A comparison of publication trends on avoidant personality disorder and social phobia.

The objective of this study was to ascertain the number of articles published per annum on the topics of avoidant personality disorder (APD) and social phobia (SP) in the period from 1973 to 2001. We hypothesized that while annual publication rates on SP would exhibit a sound growth, the number of scientific articles on APD published per annum would present a stagnant or declining trend. We performed a comprehensive literature review on APD and SP using the three largest existing databases for medical and psychological journals: MEDLINE, PsycINFO, and Web of Science. The references were gathered by means of the Reference Manager version 9.5 software and transferred to an SPSS version 10 database for statistical analysis. The data were then input into regression models with the goal of predicting future growth of the scientific literature in these areas. The number of journal articles published annually on SP has steadily increased in the period from 1973 (1 article) to 2001 (118 articles). In contrast, the production of scientific literature on APD peaked in 1986 (5 articles) and subsequently declined. During the last decade reviewed, an average of fewer than two articles on APD was published per annum. Given the declining trend identified in this study, we believe that it is unlikely that the publication of scientific articles on APD will provide the empirical evidence required to validate this disorder in a foreseeable future. The permanence of APD on the rolls of the personality disorders should therefore be reassessed.

Humans↗
PubMed2006

Post-traumatic stress symptoms in an elite unit of Brazilian police officers: prevalence and impact on psychosocial functioning and on physical and mental health.

BACKGROUND: Frequent exposure to traumatic situations put police officers under an increased risk for developing post-traumatic stress disorder (PTSD). The goals of this study were to determine the current prevalence of post-traumatic stress symptoms (PTSS) in Brazilian police officers and to compare groups with and without PTSS in terms of associated morbidity. METHODS: Police officers from an elite unit (n=157) were asked to fill out a socio-demographic questionnaire, the 12-item General Health Questionnaire and the Post-Traumatic Stress Disorder Checklist-Civilian Version. The latter's scores were used to establish the diagnoses of "full PTSD" and of "partial PTSD". RESULTS: Prevalence rates of "full PTSD" and "partial PTSD" were 8.9% and 16%, respectively. Compared with the "no PTSD" group, police officers with "full PTSD" were five times more likely to be divorced (21.6% vs. 4.3%, p=0.008), felt that their physical health was poorer (64.3% vs. 6%, p<0.001), had more medical consultations during the last 12 months [2.00 (+/-1.62) vs. 1.09 (+/-1.42), p=0.03] and reported more often lifetime suicidal ideation (35.7% vs. 5.2%, p=0.002). LIMITATIONS: The sample was relatively small. A screening tool was employed instead of a semi-structured interview. The cross-sectional design is unsuitable for ascertaining cause-effect relations. CONCLUSIONS: PTSD prevalence in our sample was comparable to those reported for North American and Dutch policemen. The presence of "full PTSD" was associated with evidences of considerable morbidity. These findings may contribute to the development of effective policies aimed at the prevention and treatment of PTSD in law enforcement agents.

Adult↗
PubMed2006

The descriptive epidemiology of obsessive-compulsive disorder.

Since the early eighties, there has been a growing interest in the descriptive epidemiology of obsessive-compulsive disorder (OCD). In this narrative review, the authors describe the findings of a number of studies that employed selected instruments, such as the Diagnostic Interview Schedule, the Composite International Diagnostic Instrument, and the Schedule for Affective Disorders and Schizophrenia, to ascertain the prevalence and incidence rates for OCD in several different countries. We noted that there is a great heterogeneity of findings and that the potential reasons for this variability include not only the intrinsic characteristics of the population under study but also extrinsic factors (i.e., the several methodologically-informed decisions that are to be made before undertaking such investigations, such as the adoption of a specific diagnostic instrument). In order to further the knowledge on the epidemiology of OCD, it would be worthwhile to establish a global consensus regarding a standard assessment package for OCD, to produce more cross-culturally valid versions of the key research instruments, and to conduct studies specifically aimed at comparing the sociodemographic, clinical and prognostic aspects of OCD across different countries.

Diagnostic and Statistical Manual of Mental Disord↗
PubMed2006

The problem of delusional ugliness: is it really body dysmorphic disorder?

Currently, the DSM-IV allows individuals with dysmorphic delusions to be diagnosed with either delusional body dysmorphic disorder (BDD) and delusional disorder, somatic type (DDST). However, given the growing acceptance of a dimensional perspective in psychopathology, it is conceivable that future editions of the DSM may recommend the exclusion of the diagnosis of DDST whenever isolated dysmorphic delusions are present, arguing that the latter should be considered no more than a symptom of BDD. But is the concept of DDST condemned to extinction in favor of that of delusional BDD? While some studies suggest that non-delusional and delusional BDD/DDST may be indistinguishable from the clinical, neuroanatomical, and therapeutic perspectives, several facts support the utility of the DDST concept. Firstly, DDST is a wider construct than delusional BDD. Secondly, it is unclear whether DDST in general (as opposed to delusional BDD) belongs to the obsessive-compulsive spectrum. Thirdly, differential pharmacological response may not be an adequate criteria for blending non-delusional and delusional BDD/DDST. Fourthly, "delusional" BDD may not be delusional at all. Finally, there is more about delusion than just an "extreme" conviction. Future studies are urgently needed in order to substantiate our judgement regarding the existence of diagnostic limits between delusional BDD and DDST with dysmorphic delusions.

Antidepressive Agents↗
PubMed2006

Absence of dementia in late-onset schizophrenia: a one year follow-up of a Brazilian case series.

BACKGROUND: Cognitive deficits of late-onset schizophrenia (LOS) patients have been reported as stable, although some prospective studies show that a sub-group develop a significant cognitive decline. Data on LOS from developing countries are scarce. OBJECTIVE: To evaluate the cognitive performance of Brazilian patients with LOS over the course of one year. METHOD: Thirteen LOS patients were evaluated at baseline and after one year with the Mini-Mental State Examination (MMSE), the CAMCOG, the Positive and Negative Symptoms Scale, the Pfeffers Activities of Daily Living (ADL), and the Neuropsychiatric Inventory (NPI). RESULTS: Cognition and activities of daily living remained stable over the course of one year [baseline MMSE= 21.31 (4.87) and CAMCOG=80.31 (16.68); end-point MMSE=20.77 (3.86) and CAMCOG=82.92 (14.42) (Z=-0.831; p=0.40); baseline ADL=4.31 (5.65); end-point ADL= 5.92 (3.86) (Z=-0.831; p=0.40)]; end-point NPI=10.54 (10.69) (Z=-0.737; p=0.46]. CONCLUSION: Like patients from developed countries, Brazilian patients with LOS do not seem to develop dementia, at least over the course of one year.

Activities of Daily Living↗
PubMed2006

A sociodemographic, phenomenological, and long-term follow-up study of patients with body dysmorphic disorder in Brazil.

OBJECTIVE: The main characteristic of body dysmorphic disorder (BDD) is a preoccupation with an imagined defect in appearance in a normal-appearing person or an excessive preoccupation with appearance in a person with a small physical defect. In this non-controlled study, our objective was to describe the socio-demographic, phenomenological, and long-term outcome features of a Brazilian sample of patients with BDD. METHODS: We performed a chart-review of the 166 patients who attended the Obsessions, Compulsions, and Impulsions Subprogram of the Institute of Psychiatry of the Federal University of Rio de Janeiro, Brazil, during the period between 1998 and 2005. RESULTS: Twenty patients (12%) had clinically significant BDD. This sample was characterized by a predominance of female (n = 11; 55%), single or divorced (n = 18; 90%), and economically unproductive patients (n = 17; 85%). We found an average of 2.5 current imagined defects per patient. The most frequently reported body parts of excessive concern were the overall appearance, size or shape of the face (n = 7; 35%), the skin (n = 6; 30%), the hair (n = 6; 30%), the nose (n = 5; 25%), and the body build and weight (n = 5; 25%). Most individuals exhibited a chronic condition (n = 13; 65%) and kept the same concerns during the course of the disorder (n = 12; 60%). All patients displayed compulsive behaviors, including recurrent mirror checking (n = 14; 70%), camouflaging (n = 13; 65%), reassurance seeking by means of repetitive questioning of others (n = 9; 45%), and excessive use of cosmetics (n = 7; 35%). Two patients reported "do-it-yourself" surgeries. Seven patients had current suicidal ideation (35%). Six patients (30%) showed no insight over their dysmorphic beliefs. Fifteen patients (95%) exhibited psychiatric comorbidities, mostly obsessive-compulsive disorder (OCD) (n = 14, 70%) and major depressive disorder (n = 11; 55%). The majority of patients were treated naturalistically with serotonin reuptake inhibitors (n = 15; 75%), either solo or in association with antipsychotics (n = 10; 50%). Nevertheless, only 5 (25%) responded favorably to treatment during the long-term follow-up (CGI < or = 2). CONCLUSIONS: BDD is a severe disorder that is frequently associated with other psychiatric conditions and responds poorly to treatment in the naturalistic setting. No significant trans-cultural variations were identified in the comparison between Brazilian, North American, and European samples.

Brazil↗
PubMed2005

Clinical subtypes of obsessive-compulsive disorder based on the presence of checking and washing compulsions.

OBJECTIVE: We aimed at examining the utility of checking and washing compulsions as markers of valid subtypes of obsessive-compulsive disorder (OCD). METHODS: One hundred and six patients with obsessive-compulsive disorder were evaluated with a socio-demographic and clinical questionnaire, the Structured Clinical Interview for DSM-IV, the Yale-Brown Obsessive-Compulsive Scale, the Clinical Global Impression, the Beck Depression Inventory, the Hamilton Rating Scale for Depression, and the Global Assessment of Functioning. These individuals were allocated in one of four subgroups [checkers (OCD-Ch; n = 20), washers (OCD-Wa; n = 13), checkers and washers (OCD-CW; n = 48), and non-checkers and non-washers (OCD non-CW = 25)] on the basis of the presence and the clinical relevance of checking and/or washing compulsive behaviors across their lifetime. Socio-demographic and clinical variables were compared and contrasted between the groups by means of ANOVA followed by post-hoc Least Significant Difference or Dunnett's tests for continuous variables and chi-square tests followed by partitioned chi-square tests for categorical variables. RESULTS: OCD-Ch and OCD-Wa did not differ on most demographic and clinical features, the only exception being the number of different types of obsessions, which were significantly higher in the former group. The OCD-CW group was more likely to exhibit an insidious onset of obsessive-compulsive symptoms, to manifest itself as a mixed subtype of obsessive-compulsive disorder and to display obsessions with contamination themes. On the other hand, the OCD non-CW group was more likely to exhibit an acute onset, a shorter duration of illness, obsessions with religious themes, an episodic course, and less severe obsessive-compulsive symptoms. CONCLUSIONS: In our sample, the probing of the presence of checking and/or washing compulsions has provided significant empirical support to establish valid subtypes of obsessive-compulsive disorder.

Adolescent↗
PubMed2005

Low-resolution electromagnetic tomography and treatment response in obsessive-compulsive disorder.

We investigated whether findings from pretreatment low-resolution electromagnetic tomography (LORETA) predicted response to drug treatment in patients with obsessive-compulsive disorder (OCD). The 3D intra-cerebral distribution of neuronal electrical activity from the scalp-recorded potential distribution of 17 drug-free patients with OCD was assessed with LORETA. They were treated with antidepressants in the maximum tolerated doses for at least 12 wk. Individuals were considered to be treatment responders if they displayed a reduction of at least 35% on the initial YBOCS scores and had a final CGI score of 1 or 2. The SPM-99 t test for independent samples was employed to compare, voxel-by-voxel, the brain electrical activities of responders (n = 10) and non-responders (n = 7). Responders exhibited significantly lower activities in beta band in the rostral anterior cingulate [Brodmann's area (BA) 24 and 32] (p = 0.002) and the medial frontal gyrus (BA 10) (p = 0.002), suggesting that a distinctive pattern of activity within the medial surface of the frontal lobe predicts therapeutic response in OCD.

Adolescent↗
PubMed2005

TEMPS-A: validation of a short version of a self-rated instrument designed to measure variations in temperament.

OBJECTIVE: To validate a short English-language version of the Temperament Evaluation of Memphis, Pisa, Paris and San Diego-autoquestionnaire version (TEMPS-A), a self-report questionnaire designed to measure temperamental variations in psychiatric patients and healthy volunteers. Its constituent subscales and items were formulated on the basis of the diagnostic criteria for affective temperaments (cyclothymic, dysthymic, irritable, hyperthymic, and anxious), originally developed by the first author and his former collaborators. Further item wording and selection were achieved at a later stage through an iterative process that incorporated feedback from clinicians, researchers, and research volunteers. METHOD: A total of 510 volunteers (284 patients with mood disorders, 131 relatives of bipolar probands, and 95 normal controls) were recruited by advertisement in the newspapers, announcements on radio and television, flyers and newsletters, and word of mouth. All participants were interviewed using the Structured Clinical Interview for DSM-III-R, and completed the 110-item TEMPS-A and the Temperament and Character Inventory (TCI-125). The factorial structure, the alpha coefficients, and the item-total correlations coefficients of the TEMPS-A and the correlation coefficients between the dimensions of the TCI and the TEMPS-A subscales were then determined. RESULTS: A principal components analysis with a Varimax rotation found that 39 out of the 110 original items of the TEMPS-A loaded on five factors that were interpreted as representing the cyclothymic, depressive, irritable, hyperthymic, and anxious factors. Coefficients alpha for internal consistency were 0.91 (cyclothymic), 0.81 (depressive), 0.77 (irritable), 0.76 (hyperthymic), and 0.67 (anxious) subscales. We found statistically significant positive correlations between all-but the hyperthymic-subscales and harm avoidance. Positive correlations with the hyperthymic and cyclothymic, and novelty seeking and negative correlations with the remaining subscales were also recorded. Other major findings included positive correlations between the hyperthymic and reward dependence, persistence and self-directedness; positive correlation between the self-transcendence and the cyclothymic, hyperthymic and the anxious; and negative correlations between the depressive, cyclothymic, irritable, anxious and cooperativeness. LIMITATION: As the full-scale anxious temperament was added after the four scales of the TEMPS-A were developed, it has only been evaluated in 345 subjects. CONCLUSIONS: These data indicate that the TEMPS-A in its shortened version is a psychometrically valid scale with good internal consistency. The proposed five subscale structure is upheld. Concurrent validity against the TCI is shown. Most importantly, for each of the temperaments, we were able to show positive attributes which are meaningful in an evolutionary context, along with traits which make a person vulnerable to mood shifts. This hypothesized dual nature of temperament, which is upheld by our data, is a desirable characteristic for a putative behavioral endophenotype in an oligogenic model of inheritance for bipolar disorder.

Adult↗
PubMed2005

A comparison of recovered bipolar patients, healthy relatives of bipolar probands, and normal controls using the short TEMPS-A.

OBJECTIVE: To investigate the presence of temperament dysregulation in healthy relatives of bipolar probands (RBP), a population at high risk for developing mood disorders, by comparing them with clinically recovered bipolar patients (BP) and normal controls (NC). METHOD: 52 RBP and 23 BP were originally recruited for a multicenter genetic study in bipolar disorders. NC (n=102) were also recruited by newspaper advertisement, radio and television announcements, flyers, newsletters, or word of mouth. All volunteers were asked to complete the TEMPS-A Scale, a self-report questionnaire designed to measure temperamental variations in psychiatric patients and healthy volunteers. In scoring temperaments, we relied upon the short validated version of the TEMPS-A [J. Affect. Disord. (2004)], from which traits with loadings <0.035 had been deleted. RESULTS: To examine differences in temperament dimensions among the three groups, a MANCOVA model was constructed using diagnostic group as the fixed factor (BP vs. RBP vs. NC); effects of age and gender were adjusted as covariates. MANCOVA showed overall group effect on the dependent variables (Hotelling's F5,175=6.64, p<0.001). Four dependent variables (dysthymic, cyclothymic, irritable, and anxious temperaments) showed significant between-group differences. RBP showed lower cyclothymic temperament scores than BP, but higher scores than NC. BP and RBP showed higher anxious temperament scores than NC. Hyperthymic scores were significantly highest in the NC. LIMITATION: In view of the small cell sizes, bipolar I vs. bipolar II subanalyses could not be conducted. CONCLUSIONS: Methodologic strengths of the present analyses is that the BP group had clinically recovered, and we used the validated short version of the TEMPS-A for the present analyses. Our findings suggest that some clinically healthy relatives of bipolar probands exhibit a subclinical cyclothymic instability in mood, interest, self-confidence, sleep, and/or energy as well as anxiety proneness that is not observed among normal controls. These traits may represent vulnerability markers and could presumably be used to identify individuals at high risk for developing bipolar spectrum disorders, or specific clinical subtypes (e.g., bipolar I, bipolar II) within this spectrum. This is a conceptual perspective with many unanswered questions. Resolution of these questions will require innovative definitions of phenotypes to be included in the analyses of the temperament subscales in different populations. The temperament subscales themselves need to be calibrated properly, to find out which traits or specific combinations of trains are most promising. More extensive and complex quantitative trait analyses of these temperaments in a much expanded sample are reported elsewhere in this issue [J. Affect. Disord. (2004)].

Adaptation, Psychological↗
PubMed2005

Temperament in the clinical differentiation of depressed bipolar and unipolar major depressive patients.

OBJECTIVE: To examine differences in temperament profiles between patients with recurrent unipolar and bipolar depression. METHOD: Depressed individuals with recurrent major depressive disorder (MDD) (n = 94) and those with bipolar (n = 59) disorders (about equally divided between types I and II) were recruited by newspaper advertisement, radio and television announcements, flyers and newsletters, and word of mouth. All patients were interviewed using the Structured Clinical Interview for DSM III-R (SCID) and had the severity of their depressive episode assessed by means of the 17-item Hamilton Rating Scale for Depression. All patients filled out the TEMPS-A, a validated instrument. RESULTS: Temperament differences between bipolar and MDD patients were examined using MANCOVA. Overall significant effect of the fixed factor (bipolar vs. unipolar) was noted for the temperament scores [Hotelling's F((5,142)) = 2.47, p < 0.05]. Overall effects were found for age [F((5,142)) = 2.40, p < 0.05], but not for gender and severity of depression [F((5,142)) = 1.65, p = 0.15 and F((5,142)) = 0.66, p = 0.66, respectively]. Dependent variables included the five subscales of the TEMPS-A, but only the cyclothymic temperament scores showed significant between-group differences. LIMITATION: Small bipolar subsample cell sizes did not permit to test the specificity of the findings for bipolar II vs. bipolar I patients. CONCLUSION: The finding that the clyclothymic subscale is significantly elevated in the bipolar vs. the unipolar depressive group supports the theoretical assumptions upon which the scale is based, and suggests that it might become a useful tool for clinical and research purposes.

Adult↗
PubMed2005

The validity of the Beck Depression Inventory-Short Form as a screening and diagnostic instrument for moderate and severe depression in medical inpatients.

OBJECTIVE: To examine the concurrent validity of the Beck Depression Inventory-Short Form (BDI-SF) to detect moderate and severe depressive episodes according to the International Classification of Diseases, 10th edition (ICD-10) criteria in inpatients with heterogeneous medical conditions and to set cut-off scores for its use in medical wards. METHODS: One hundred and fifty-five patients [53% female; mean age (+/- S.D.) = 49.5 (+/- 17) years; mean number of years of education (+/- S.D.) = 6 (+/- 4) years] consecutively admitted to the adult medical wards in a General Hospital were interviewed during the first 72 h of hospitalization. The Clinical Interview Schedule [CIS] was used to make ICD-10 psychiatric diagnoses. All patients completed the BDI-SF. A "receiver operating characteristics" (ROC) curve was obtained and the sensitivity, specificity, positive and negative predictive values were calculated for different cut-off points of the BDI-SF. RESULTS: High sensitivity and negative predictive value (NPV) were obtained with a cut-off score of 9/10 (sensitivity = 100%, specificity = 83.1%, NPV = 100%). High sensitivity and positive predictive value (PPV) were obtained with a cut-off score of 13/14 (sensitivity = 93.5%, specificity = 96%, PPV = 85.3%). The area under the ROC curve was 98.4% (95% Confidence Interval = 0.97-1.00). CONCLUSIONS: The BDI-SF is a valid instrument for detecting moderate and severe depression in medical inpatients. For screening purposes, a 9/10 cut-off score is indicated, but if a high specificity is desired, a 13/14 cut-off score is warranted.

Adult↗
PubMed2005

Citalopram plus reboxetine in treatment-resistant obsessive-compulsive disorder.

While serotonin reuptake inhibitors (SRIs) are the first-line treatment of obsessive compulsive disorder (OCD), as many as 40-60% of patients fail to respond to adequate trials with these drugs. In this study, we describe the case of a patient with an SRI-resistant OCD who was successfully treated with a combination of citalopram (a selective SRI) and reboxetine (a selective noradrenaline reuptake inhibitor (SNRI)). This report suggests that future studies accessing the efficacy of the SRI SNRI combination in treatment resistant OCD are needed.

Adrenergic Uptake Inhibitors↗
PubMed2005

Obsessions with aggressive content emerging during the course of panic disorder: a different subtype of obsessive-compulsive disorder?

We report the clinical and therapeutic features of three patients with an obsessive-compulsive syndrome that emerged during the course of panic disorder. The DSM-IV criteria for panic disorder places central attention on the patient's phobic responses to the panic attacks and their perceived consequences. These phobic responses may develop into a syndrome that closely resembles obsessive-compulsive disorder (OCD) but typically responds to conventional anti-panic approaches. Our cases suggest that patients with OCD should be probed for an underlying panic disorder. This 'panic disorder-related subtype of OCD' may be associated with an excellent treatment response and increased rates of remission.

Adult↗
PubMed2005

Impulse control disorders in patients with obsessive-compulsive disorder.

The purpose of the present paper was to identify the rate of prevalence of impulse control disorders (ICD) in patients with obsessive-compulsive disorder (OCD) and to compare patients with OCD with and without ICD with regard to sociodemographic, clinical and prognostic characteristics. Forty-five patients with OCD were assessed by means of the Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders (4th edn, DSM-IV) plus additional modules for the assessment of ICD and examined using the Yale-Brown Obsessive-Compulsive Scale, the Clinical Global Impression, the Beck Depression Inventory, the Hamilton Depression Rating Scale, and the Global Assessment of Functioning. These patients were treated with serotonin re-uptake inhibitors (SRI) and followed for a variable period of time. Individuals with ICD (here defined as including not only the impulse control disorders not elsewhere classified of the DSM-IV, but also other disorders in which impulse control is a prominent feature such as alcohol and drug dependence, paraphilias and bulimia nervosa/binge eating disorder) were compared to those without ICD using the Mann-Whitney U-test and the Pearson's goodness of fit chi2 test. Sixteen patients with OCD (35.5%) displayed comorbid ICD. Patients with ICD were characterized by a significantly earlier age at OCD onset (P=0.04), a more insidious appearance of OCD symptoms (P=0.04), a higher rate of comorbid anxiety disorders (P=0.03), a greater number (P=0.02) and severity of compulsive symptoms (P=0.04), an increased rate of counting compulsions (P=0.02), and a higher number of required SRI trials (P=0.01). When OCD is found in association with ICD, the clinical picture is characterized by a greater severity of the obsessive-compulsive symptoms at presentation and by the requirement of a greater number of therapeutic attempts during follow up.

Adult↗
PubMed2004

Anxiety disorders in outpatients with schizophrenia: prevalence and impact on the subjective quality of life.

OBJECTIVE: To describe the prevalence of comorbid lifetime anxiety disorders in outpatients with schizophrenia and to compare the subjective quality of life of patients with and without comorbid anxiety disorders. METHODS: Fifty-three outpatients were recruited. They were interviewed with the Anxiety Disorders section of the SCID for DSM-IV. Quality of life was assessed with the Sheehan disability scale (SDS). RESULTS: Specific prevalences of anxiety comorbidity were: social phobia (17%), OCD (15.1%), GAD (9.4%), anxiety disorder NOS (7.5%), panic disorder (5.7%), specific phobia (5.7%), PTSD (3.8%), and agoraphobia (1.9%). Schizophrenic patients with comorbid anxiety disorder (41.5%) showed significantly higher scores in global scale (p=0.005), work subscale (p=0.007), and social life subscale (p=0.003) of the SDS than their counterparts without comorbid conditions. CONCLUSIONS: Anxiety disorders may impose an additional burden to patients with schizophrenia, resulting in further decline in their subjective quality of life.

Adult↗
PubMed2004

Asperger Syndrome, obsessive-compulsive disorder, and major depression in a patient with 45,X/46,XY mosaicism.

BACKGROUND: Although previous reports have described the association of autism, mental retardation, and schizophrenia with a missing Y chromosome, we are not aware of any case showing an association between this particular chromosomal abnormality and Asperger syndrome. METHOD: We report the case of a male patient with a combination of Asperger syndrome, obsessive-compulsive disorder and 45,X/46,XY mosaicism. During the follow-up, this individual has also developed a severe episode of major depression, which was successfully treated with electroconvulsive therapy. RESULTS: To the best of our knowledge, this is the first case in which a 45,X/46,XY mosaicism was described in association with Asperger syndrome, either alone or associated with other psychiatric disorders. Diagnostic and therapeutic aspects of this unique case are presented and discussed. CONCLUSIONS: Our findings suggest that a missing Y chromosome may play an etiological role in some cases of Asperger syndrome.

Adult↗