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1.
Braz J Psychiatry ; 2024 Feb 19.
Article in English | MEDLINE | ID: mdl-38573616

ABSTRACT

OBJECTIVE: This study aims to evaluate the effectiveness of online group cognitive-behavioral therapy (GCBT) guided by the CAMALEO TOC manual in treating of adolescents with obsessive compulsive disorder (OCD). METHOD: A quasi-experimental study with a single group pre-posttest intervention. Over 12 weeks 11 adolescents aged 11 to 17 years with OCD received weekly online sessions of GCBT based on CAMALEO TOC manual. The Children's Yale-Brown Obsessive-Compulsive Scale was used to assess OCD symptoms severity, the Family accommodation scale for obsessive-compulsive disorder interviewer-rated for family accommodation, the Children's Depression Inventory to assess depression symptoms, the Revised Children's Manifest Anxiety Scale for anxiety, and the Multidimensional Student Life Satisfaction Scale to assess life satisfaction. RESULTS: OCD symptoms decreased significantly (d = -1.55). A strong effect size (d = -1.03) was also found for family accommodation. No significant difference in OCD symptoms and family accommodation scores were found when controlling for differences between being in psychotherapeutic treatment, medication use, or psychiatric comorbidities. There was also no evidence that the intervention was effective in reducing symptoms of depression, anxiety or improving quality of life. CONCLUSION: We demonstrate the feasibility of a short-term online GCBT as an effective treatment for adolescents with OCD.

2.
Braz. J. Psychiatry (São Paulo, 1999, Impr.) ; 45(5): 431-447, Sept.-Oct. 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1527997

ABSTRACT

Objectives: To summarize evidence-based cognitive-behavioral therapy (CBT) treatment and propose clinical interventions for adult patients with obsessive-compulsive disorder (OCD). Methods: The literature on CBT interventions for adult OCD, including BT and exposure and response prevention, was systematically reviewed to develop updated clinical guidelines for clinicians, providing comprehensive details about the necessary procedures for the CBT protocol. We searched the literature from 2013-2020 in five databases (PubMed, Cochrane, Embase, PsycINFO, and Lilacs) regarding study design, primary outcome measures, publication type, and language. Selected articles were assessed for quality with validated tools. Treatment recommendations were classified according to levels of evidence developed by the American College of Cardiology and the American Heart Association. Results: We examined 44 new studies used to update the 2013 American Psychiatric Association guidelines. High-quality evidence supports CBT with exposure and response prevention techniques as a first-line treatment for OCD. Protocols for Internet-delivered CBT have also proven efficacious for adults with OCD. Conclusion: High-quality scientific evidence supports the use of CBT with exposure and response prevention to treat adults with OCD.

3.
Braz J Psychiatry ; 2023 Sep 17.
Article in English | MEDLINE | ID: mdl-37718254

ABSTRACT

OBJECTIVE: To summarize the evidence-based cognitive-behavioral therapy (CBT) treatment and propose clinical interventions for adult patients with obsessive-compulsive disorder (OCD). METHODS: A systematic review of the literature on CBT interventions for the treatment of adult OCD, comprising behavior therapy and exposure and response prevention (ERP) was done. The objective of this study is to present updated clinical guidelines to clinicians, providing comprehensive details regarding the necessary procedures to be incorporated into the CBT protocol. We searched the literature published from 2013-2020 in five databases (PubMed, Cochrane, Embase, Psycinfo and Lilacs), considering: study design, primary outcome measures, type of publication and language. Selected articles were assessed for quality with validated tools. Treatment recommendations were classified according to levels of evidence developed by the American College of Cardiology and the American Heart Association (ACC/AHA). RESULTS: We examined 44 new studies used to update the APA guidelines from 2013. High-quality evidence supports CBT including ERP techniques as the first-line CBT treatment for OCD. In addition, protocols for internet-delivered CBT have also demonstrated their efficacy for the treatment of adults with OCD. CONCLUSION: CBT based on ERP is a widely used treatment according to high-quality scientific evidence to treat adults with OCD.

4.
Clin Psychol Psychother ; 30(6): 1520-1533, 2023.
Article in English | MEDLINE | ID: mdl-37554049

ABSTRACT

INTRODUCTION: Mental rituals (MR) are compulsions with no overt behavioural or motoric signs. It is presently unclear whether MR found in obsessive-compulsive disorder are associated with a distinctive clinical profile. OBJECTIVES: The main objectives of this paper were to assess the prevalence and psychopathological correlates of mental rituals in a large sample of OCD patients. METHODS: This exploratory case-control study compared 519 patients with versus 447 without MR in terms of sociodemographics, presence and severity of obsessive-compulsive symptoms, psychiatric comorbidities, sensory phenomena, suicidality, and insight. RESULTS: Current MR were found in 51.8%, while lifetime MR were found in 55.4% of the sample. The multiple logistic regression model determined that the most relevant clinical factors independently associated with current MR in OCD patients were the absence of any sensory phenomena and the presence of lifetime suicide ideation. CONCLUSION: Due to its relation to OCD clinical aspects, MR are a frequent feature among OCD patients. It also seems to be associated with a range of features that are probably relevant for treatment, especially sensory phenomena and suicidality.


Subject(s)
Ceremonial Behavior , Obsessive-Compulsive Disorder , Humans , Prevalence , Case-Control Studies , Obsessive-Compulsive Disorder/psychology , Compulsive Behavior/epidemiology , Compulsive Behavior/psychology
5.
Braz. J. Psychiatry (São Paulo, 1999, Impr.) ; 45(2): 146-161, Mar.-Apr. 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1439556

ABSTRACT

Objectives: To summarize evidence-based pharmacological treatments and provide guidance on clinical interventions for adult patients with obsessive-compulsive disorder (OCD). Methods: The American Psychiatric Association (APA) guidelines for the treatment of OCD (2013) were updated with a systematic review assessing the efficacy of pharmacological treatments for adult OCD, comprising monotherapy with selective serotonin reuptake inhibitors (SSRIs), clomipramine, serotonin and norepinephrine reuptake inhibitors (SNRIs), and augmentation strategies with clomipramine, antipsychotics, and glutamate-modulating agents. We searched for the literature published from 2013-2020 in five databases, considering the design of the study, primary outcome measures, types of publication, and language. Selected articles had their quality assessed with validated tools. Treatment recommendations were classified according to levels of evidence developed by the American College of Cardiology and the American Heart Association (ACC/AHA). Results: We examined 57 new studies to update the 2013 APA guidelines. High-quality evidence supports SSRIs for first-line pharmacological treatment of OCD. Moreover, augmentation of SSRIs with antipsychotics (risperidone, aripiprazole) is the most evidence-based pharmacological intervention for SSRI-resistant OCD. Conclusion: SSRIs, in the highest recommended or tolerable doses for 8-12 weeks, remain the first-line treatment for adult OCD. Optimal augmentation strategies for SSRI-resistant OCD include low doses of risperidone or aripiprazole. Pharmacological treatments considered ineffective or potentially harmful, such as monotherapy with antipsychotics or augmentation with ketamine, lamotrigine, or N-acetylcysteine, have also been detailed.

6.
Braz J Psychiatry ; 45(2): 146-161, 2023 May 11.
Article in English | MEDLINE | ID: mdl-36749887

ABSTRACT

OBJECTIVES: To summarize evidence-based pharmacological treatments and provide guidance on clinical interventions for adult patients with obsessive-compulsive disorder (OCD). METHODS: The American Psychiatric Association (APA) guidelines for the treatment of OCD (2013) were updated with a systematic review assessing the efficacy of pharmacological treatments for adult OCD, comprising monotherapy with selective serotonin reuptake inhibitors (SSRIs), clomipramine, serotonin and norepinephrine reuptake inhibitors (SNRIs), and augmentation strategies with clomipramine, antipsychotics, and glutamate-modulating agents. We searched for the literature published from 2013-2020 in five databases, considering the design of the study, primary outcome measures, types of publication, and language. Selected articles had their quality assessed with validated tools. Treatment recommendations were classified according to levels of evidence developed by the American College of Cardiology and the American Heart Association (ACC/AHA). RESULTS: We examined 57 new studies to update the 2013 APA guidelines. High-quality evidence supports SSRIs for first-line pharmacological treatment of OCD. Moreover, augmentation of SSRIs with antipsychotics (risperidone, aripiprazole) is the most evidence-based pharmacological intervention for SSRI-resistant OCD. CONCLUSION: SSRIs, in the highest recommended or tolerable doses for 8-12 weeks, remain the first-line treatment for adult OCD. Optimal augmentation strategies for SSRI-resistant OCD include low doses of risperidone or aripiprazole. Pharmacological treatments considered ineffective or potentially harmful, such as monotherapy with antipsychotics or augmentation with ketamine, lamotrigine, or N-acetylcysteine, have also been detailed.


Subject(s)
Antipsychotic Agents , Obsessive-Compulsive Disorder , Humans , Adult , Antipsychotic Agents/therapeutic use , Selective Serotonin Reuptake Inhibitors/therapeutic use , Clomipramine/therapeutic use , Aripiprazole/therapeutic use , Risperidone , Brazil , Treatment Outcome , Obsessive-Compulsive Disorder/drug therapy , Obsessive-Compulsive Disorder/psychology
7.
Trends Psychiatry Psychother ; 45: e20210370, 2023.
Article in English | MEDLINE | ID: mdl-35244353

ABSTRACT

INTRODUCTION: Although post-traumatic stress disorder and obsessive-compulsive disorder have distinct diagnostic criteria, some psychopathological phenomena seem to be shared, which may lead to misdiagnosis and erroneous treatment decisions. This scoping review explores the psychopathological similarities and differences between these two disorders. METHOD: The review complies with the recommendations of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) and included articles published in Portuguese, English, or Spanish in the last 50 years indexed in the PubMed database. Case-reports were excluded. RESULTS: Fifty-three studies with different designs were included (30 [56.5%] were cross-sectional studies; eight [15.1%] were case-control studies; one [1.9%] was a cohort study; three [5.7%] were clinical trials; nine [17%] were reviews/systematic reviews; and two [3.8%] were meta-analyses). The main psychopathological aspects described by the studies included were flashbacks x obsessions; avoidant behavior (AB); depressive, anxious, and somatic symptoms; sexuality, sleep, and appetite; psychiatric comorbidities; and suicidality. The intersection between clinical features seems to occur in the extrinsic psychopathological dimension. CONCLUSION: The disorders' core psychopathological symptoms (intrinsic characteristics) are distinctly different, since flashbacks and obsessions are consequences of different predominant defective mental functions: the former derives from defective memory, the latter from defective thought. Along the same lines, the ABs observed in the two disorders are products of different purposes and inner necessities.


Subject(s)
Obsessive-Compulsive Disorder , Stress Disorders, Post-Traumatic , Humans , Stress Disorders, Post-Traumatic/diagnosis , Cohort Studies , Obsessive-Compulsive Disorder/psychology , Psychopathology , Comorbidity
8.
Aust N Z J Psychiatry ; 57(1): 130-139, 2023 01.
Article in English | MEDLINE | ID: mdl-35303769

ABSTRACT

BACKGROUND: The obsession of turning into another person (transformation obsessions [TO]), and its related compulsions have been initially conceptualised as a form of mental contamination. Nevertheless, it has remained understudied in the current obsessive-compulsive disorder (OCD) literature. In parallel, disturbances of the self have been identified as markers of prodromal psychosis in patients with schizophrenia. Based on the later association, this study aimed to investigate the sociodemographic and clinical correlates of TO. METHODS: In all, 1001 OCD outpatients from the Brazilian OCD Research Consortium were included in this study. Several semi-structured and structured instruments were used to compare 48 OCD patients with TO with 953 OCD patients without TO. A repression model investigated the relationships between the presence of current TO and statistically significant univariate test outcomes. RESULTS: Participants with TO presented an overall younger age, a longer period of time between the onset of the OCD symptoms and an OCD diagnosis, greater severity of the sexual/religious dimension and increased suicidality symptoms. CONCLUSIONS: These results indicate that TO may be better conceptualised as a form of forbidden/taboo thoughts rather than contamination. While no significant associations with psychotic features (e.g. decreased insight) were observed, TO patients displayed increased suicidality, overall younger age and a significantly larger disparity between seeking treatment and OCD diagnosis. This demonstrates that further clinical awareness and research into TO as an OCD symptom is most needed.


Subject(s)
Obsessive-Compulsive Disorder , Humans , Obsessive-Compulsive Disorder/diagnosis , Compulsive Behavior , Obsessive Behavior , Psychopathology , Suicidal Ideation
9.
Trends psychiatry psychother. (Impr.) ; 45: e20210370, 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1442236

ABSTRACT

Abstract Introduction Although post-traumatic stress disorder and obsessive-compulsive disorder have distinct diagnostic criteria, some psychopathological phenomena seem to be shared, which may lead to misdiagnosis and erroneous treatment decisions. This scoping review explores the psychopathological similarities and differences between these two disorders. Method The review complies with the recommendations of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) and included articles published in Portuguese, English, or Spanish in the last 50 years indexed in the PubMed database. Case-reports were excluded. Results Fifty-three studies with different designs were included (30 [56.5%] were cross-sectional studies; eight [15.1%] were case-control studies; one [1.9%] was a cohort study; three [5.7%] were clinical trials; nine [17%] were reviews/systematic reviews; and two [3.8%] were meta-analyses). The main psychopathological aspects described by the studies included were flashbacks x obsessions; avoidant behavior (AB); depressive, anxious, and somatic symptoms; sexuality, sleep, and appetite; psychiatric comorbidities; and suicidality. The intersection between clinical features seems to occur in the extrinsic psychopathological dimension. Conclusion The disorders' core psychopathological symptoms (intrinsic characteristics) are distinctly different, since flashbacks and obsessions are consequences of different predominant defective mental functions: the former derives from defective memory, the latter from defective thought. Along the same lines, the ABs observed in the two disorders are products of different purposes and inner necessities.

10.
Psychiatry Res ; 312: 114567, 2022 06.
Article in English | MEDLINE | ID: mdl-35490573

ABSTRACT

This study aimed to identify the factors associated with a delay in treatment-seeking among patients with obsessive-compulsive disorder (OCD), a disabling neuropsychiatric disorder. To achieve this purpose, we conducted a cross-sectional study examining latency to treatment (LTT) and its associated correlates in 863 patients with OCD. We defined LTT as the time lag between the awareness of discomfort and/or impairment caused by symptoms and the beginning of OCD-specific treatment. To determine the socio-demographic and clinical characteristics associated with LTT, we built an interval-censored survival model to simultaneously assess the relationship between all variables, representing the best fit to our data format. The results of our study showed that approximately one-third of OCD patients sought treatment within two years of symptom awareness, one-third between two and nine years, and one-third after ten or more years. Median LTT was 4.0 years (mean = 7.96, SD = 9.54). Longer LTT was associated with older age, early onset of OCD symptoms, presence of contamination/cleaning symptoms and full-time employment. Shorter LTT was associated with the presence of aggression symptoms and comorbidity with hypochondriasis. The results of our study confirm the understanding that LTT in OCD is influenced by several interdependent variables - some of which are modifiable. Strategies for reducing LTT should focus on older patients, who work in a full-time job, and on individuals with early onset of OCD and contamination/cleaning symptoms.


Subject(s)
Obsessive-Compulsive Disorder , Comorbidity , Cross-Sectional Studies , Humans , Hypochondriasis/epidemiology , Obsessive-Compulsive Disorder/diagnosis
11.
Psychol Med ; 52(4): 715-725, 2022 03.
Article in English | MEDLINE | ID: mdl-32669156

ABSTRACT

BACKGROUND: Patients with obsessive-compulsive disorder (OCD) are at increased risk for suicide attempt (SA) compared to the general population. However, the significant risk factors for SA in this population remains unclear - whether these factors are associated with the disorder itself or related to extrinsic factors, such as comorbidities and sociodemographic variables. This study aimed to identify predictors of SA in OCD patients using a machine learning algorithm. METHODS: A total of 959 outpatients with OCD were included. An elastic net model was performed to recognize the predictors of SA among OCD patients, using clinical and sociodemographic variables. RESULTS: The prevalence of SA in our sample was 10.8%. Relevant predictors of SA founded by the elastic net algorithm were the following: previous suicide planning, previous suicide thoughts, lifetime depressive episode, and intermittent explosive disorder. Our elastic net model had a good performance and found an area under the curve of 0.95. CONCLUSIONS: This is the first study to evaluate risk factors for SA among OCD patients using machine learning algorithms. Our results demonstrate an accurate risk algorithm can be created using clinical and sociodemographic variables. All aspects of suicidal phenomena need to be carefully investigated by clinicians in every evaluation of OCD patients. Particular attention should be given to comorbidity with depressive symptoms.


Subject(s)
Obsessive-Compulsive Disorder , Suicide, Attempted , Comorbidity , Humans , Machine Learning , Obsessive-Compulsive Disorder/diagnosis , Obsessive-Compulsive Disorder/epidemiology , Prevalence , Suicidal Ideation
12.
Trends Psychiatry Psychother ; 43(3): 200-206, 2021.
Article in English | MEDLINE | ID: mdl-34852186

ABSTRACT

INTRODUCTION: Suicide is a serious public health problem that affects the whole world. This study describes development of the prototype for an mHealth application (app) intended to assist healthcare professionals to identify suicide risk in hospitalized patients and reports on testing of the app by some of these professionals, conducted to confirm its functionality. METHOD: This is applied exploratory research into use of Information Technology within the healthcare field, based on application prototyping for mobile devices. The research was conducted at the Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) from 2017 to 2019. Six healthcare professionals, one data scientist, and three undergraduate students in Biomedical Informatics took part in the study. All research participants signed the free and informed consent form. RESULTS: The main findings show that the development team created a prototype named Detect-S, which became a cross-platform application (iOS and Android) offering 16 functions. CONCLUSION: It can be concluded that Detect-S has the potential to be a positive technological instrument that can be tested in a hospital setting to assist healthcare professionals to identify and manage patients with at risk of suicide.


Subject(s)
Mobile Applications , Suicide Prevention , Telemedicine , Health Personnel , Humans
13.
Trends psychiatry psychother. (Impr.) ; 43(3): 200-206, Jul.-Sept. 2021. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1347936

ABSTRACT

Abstract Introduction Suicide is a serious public health problem that affects the whole world. This study describes development of the prototype for an mHealth application (app) intended to assist healthcare professionals to identify suicide risk in hospitalized patients and reports on testing of the app by some of these professionals, conducted to confirm its functionality. Method This is applied exploratory research into use of Information Technology within the healthcare field, based on application prototyping for mobile devices. The research was conducted at the Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) from 2017 to 2019. Six healthcare professionals, one data scientist, and three undergraduate students in Biomedical Informatics took part in the study. All research participants signed the free and informed consent form. Results The main findings show that the development team created a prototype named Detect-S, which became a cross-platform application (iOS and Android) offering 16 functions. Conclusion It can be concluded that Detect-S has the potential to be a positive technological instrument that can be tested in a hospital setting to assist healthcare professionals to identify and manage patients with at risk of suicide.

14.
Trends Psychiatry Psychother ; 42(3): 276-281, 2020.
Article in English | MEDLINE | ID: mdl-32997043

ABSTRACT

INTRODUCTION: Suicide is an issue of great severity in public health worldwide. This study aimed to investigate which instruments are most frequently used by healthcare professionals to assess suicide risk and how accessible such instruments are, as well as to determine the scope of suicide phenomena. METHOD: A systematic review was performed using the following Boolean searches: "scale AND suicide," "evaluation AND suicide," "questionnaire AND suicide." The articles retrieved were read and selected by two independent researchers - any discrepancies were addressed by a third researcher. RESULTS: From a total number of 206 articles, 20 instruments were identified as being currently used to assess suicide risk. The two most common were the Beck Scale for Suicide Ideation (BSI) and The Columbia - Suicide Severity Rating Scale (C-SSRS). CONCLUSION: Even though the two scales (BSI and C-SSRS) are the most frequently mentioned and used by healthcare professionals to assess suicide risk, both instruments present breaches in their structure and there is not yet a single instrument considered to be the gold standard. As a future perspective, there is the urgency of developing a new tool that can widely and completely assess all psychopathological aspects of suicidality.


Subject(s)
Psychiatric Status Rating Scales/standards , Risk Assessment/methods , Suicide , Humans , Suicidal Ideation
15.
Trends psychiatry psychother. (Impr.) ; 42(3): 276-281, July-Sept. 2020. tab, graf
Article in English | LILACS | ID: biblio-1139831

ABSTRACT

Abstract Introduction Suicide is an issue of great severity in public health worldwide. This study aimed to investigate which instruments are most frequently used by healthcare professionals to assess suicide risk and how accessible such instruments are, as well as to determine the scope of suicide phenomena. Method A systematic review was performed using the following Boolean searches: "scale AND suicide," "evaluation AND suicide," "questionnaire AND suicide." The articles retrieved were read and selected by two independent researchers - any discrepancies were addressed by a third researcher. Results From a total number of 206 articles, 20 instruments were identified as being currently used to assess suicide risk. The two most common were the Beck Scale for Suicide Ideation (BSI) and The Columbia - Suicide Severity Rating Scale (C-SSRS). Conclusion Even though the two scales (BSI and C-SSRS) are the most frequently mentioned and used by healthcare professionals to assess suicide risk, both instruments present breaches in their structure and there is not yet a single instrument considered to be the gold standard. As a future perspective, there is the urgency of developing a new tool that can widely and completely assess all psychopathological aspects of suicidality.


Subject(s)
Humans , Psychiatric Status Rating Scales/standards , Suicide , Risk Assessment/methods , Suicidal Ideation
16.
Front Psychiatry ; 10: 413, 2019.
Article in English | MEDLINE | ID: mdl-31333508

ABSTRACT

Introduction: Insight may be defined as the ability to perceive and evaluate external reality and to separate it from its subjective aspects. It also refers to the ability to self-assess difficulties and personal qualities. Insight may be a predictor of success in the treatment of obsessive-compulsive disorder (OCD), so that individuals with poor insight tend to become refractory to treatment. The objective of this study is to investigate factors associated with poor insight in individuals with OCD. Methods: This cross-sectional exploratory study used the Brown Belief Assessment Scale as a parameter for the creation of the comparison groups: individuals who obtained null scores (zero) composed the group with preserved or good insight (n = 148), and those with scores above the 75% percentile composed the group with poor insight (n = 124); those with intermediate scores were excluded. Sociodemographic characteristics and clinical and psychopathological aspects, intrinsic and extrinsic to the typical symptoms of OCD, were compared in a univariate analysis. A logistic regression was used to determine which factors associated with critical judgment remained significant. Results: Individuals in the poor insight group differed from those with good insight in regard to: more prevalent use of neuroleptics (p = 0.05); higher untreated time interval (p < 0.001); higher total Yale-Brown obsessive-compulsive scale score and the obsessions and compulsions factors (all factors with p < 0.001); higher dimensional Yale-Brown obsessive-compulsive scale total and dimensional scores (p from 0.04 to 0.001); higher prevalence of contamination/cleaning (p = 0.006) and hoarding (p < 0.001) symptoms dimensions; more prevalent sensory phenomena (p = 0.023); higher levels of depression (p = 0.007); and more prevalent comorbidity with bipolar affective disorder (p = 0.05) and post-traumatic stress disorder (PTSD) (p = 0.04). After analyzing the logistic regression, we conclude that the most important factors associated with poor insight are: the presence of any sensory phenomena (OR: 2.24), use of neuroleptics (OR: 1.66), and hoarding symptoms (OR: 1.15). Conclusion: The variability of insight in patients with OCD seems to be an important psychopathological characteristic in the differentiation of possible subtypes of OCD, since the poor insight is associated with sensory phenomena and greater use of neuroleptics, which makes it possible to conjecture the role of dopaminergic neurocircuits in the neurobiology of this disorder. In addition, there is also an association with the symptoms of hoarding content, admittedly one of the symptomatic contents with less response to conventional OCD treatments. Studies based on neurobiological aspects such as neuroimaging and neuropsychology may help to elucidate more consistently the role of insight in patients with OCD and the repercussions concerning available treatments.

17.
Arq. bras. oftalmol ; 82(4): 336-338, July-Aug. 2019. graf
Article in English | LILACS | ID: biblio-1019412

ABSTRACT

ABSTRACT Aniridia is a congenital eye disorder with a variable degree of hypoplasia or absence of iris tissue. It is caused by loss of function of the PAX6 gene and may be an isolated ocular abnormality or part of a syndrome. WAGRO refers to a rare genetic condition leading to Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity and is caused by a deletion of the short arm of chromosome 11 (11p), where the PAX6 gene is located. Here, we report on an 8-year-old boy with aniridia, polar cataract, and lens subluxation along with neuropsychomotor and speech delays. Karyotype evaluation showed an interstitial deletion including region 11p13-p14, confirming the diagnosis of WAGRO syndrome. In cases of aniridia, a diagnosis of WAGRO syndrome should be considered.


RESUMO A aniridia é uma doença ocular congênita com grau variável de hipoplasia ou ausência do tecido da íris. É causada pela perda de função do gene PAX6 e pode ser uma anormalidade ocular isolada ou parte de uma síndrome. WAGRO refere-se a uma condição genética rara que leva ao tumor de Wilms, aniridia, anomalias geniturinárias, déficit intelectual e obesidade e é causada por uma deleção do braço curto do cromossomo 11 (11p), onde o gene PAX6 está localizado. Aqui, nós relatamos um menino de 8 anos de idade com aniridia, catarata polar e subluxação do cristalino, além de retardo neuropsicomotor e de fala. A avaliação cariotípica revelou uma deleção intersticial envolvendo a região 11p13-p14, confirmando o diagnóstico da síndrome WAGRO. Em casos de aniridia, um diagnóstico de síndrome de WAGRO deve ser considerado.


Subject(s)
Humans , Male , Child , Cataract/diagnosis , Aniridia/diagnosis , Lens Subluxation/diagnosis , WAGR Syndrome/diagnosis , Obesity/diagnosis , Cataract/genetics , Chromosomes, Human, Pair 11/genetics , Aniridia/genetics , Lens Subluxation/genetics , Chromosome Deletion , WAGR Syndrome/genetics , Karyotype , Obesity/genetics
18.
Arq Bras Oftalmol ; 82(4): 336-338, 2019 05 20.
Article in English | MEDLINE | ID: mdl-31116317

ABSTRACT

Aniridia is a congenital eye disorder with a variable degree of hypoplasia or absence of iris tissue. It is caused by loss of function of the PAX6 gene and may be an isolated ocular abnormality or part of a syndrome. WAGRO refers to a rare genetic condition leading to Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity and is caused by a deletion of the short arm of chromosome 11 (11p), where the PAX6 gene is located. Here, we report on an 8-year-old boy with aniridia, polar cataract, and lens subluxation along with neuropsychomotor and speech delays. Karyotype evaluation showed an interstitial deletion including region 11p13-p14, confirming the diagnosis of WAGRO syndrome. In cases of aniridia, a diagnosis of WAGRO syndrome should be considered.


Subject(s)
Aniridia/diagnosis , Cataract/diagnosis , Lens Subluxation/diagnosis , Obesity/diagnosis , WAGR Syndrome/diagnosis , Aniridia/genetics , Cataract/genetics , Child , Chromosome Deletion , Chromosomes, Human, Pair 11/genetics , Humans , Karyotype , Lens Subluxation/genetics , Male , Obesity/genetics , WAGR Syndrome/genetics
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