RESUMO
INTRODUCTION: Autism spectrum disorders are neurodevelopmental dysfunctions that are characterised by deficits in social integration and communication, associated with restricted interests and stereotypic behaviour. A high percentage are related to language disorders, sensory dysfunctions, attention deficit disorder, bipolarity, intellectual disability or epilepsy, among other comorbidities. It is estimated that around 30% of children with autism, with typical early development, may present regression in the first years of life, which was already reported by Kanner in one of his original cases. The term regression refers to the loss of social, communicative or motor skills. It is essential to be alert to any symptoms of autistic regression, since it is not always an unspecific usual manifestation of the clinical spectrum of autism. Although little is known about the pathogenesis of regression, it needs to be organised hierarchically, as it can be part of different conditions with a variety of causes. AIMS: The aim of this study is to analyse distinct conditions that need to be addressed in the case of a child with autistic regression, including genetic and toxic causations, autoimmune and nutritional phenomena, and epilepsies. CONCLUSION: When faced with a case of autistic regression it is essential to try to identify the possible aetiology, as this can allow specific treatment and adequate genetic counselling to be established.
TITLE: Regresion autista: aspectos clinicos y etiologicos.Introduccion. Los trastornos del espectro autista son disfunciones del neurodesarrollo que se caracterizan por deficits en la integracion social y la comunicacion, asociados a intereses restringidos y conductas estereotipadas. Un alto porcentaje se asocia a trastorno del lenguaje, disfunciones sensoriales, trastorno por deficit de atencion, bipolaridad, discapacidad intelectual o epilepsia, entre otras comorbilidades. Se estima que aproximadamente un 30% de los niños con autismo, con desarrollo tipico inicial, pueden presentar regresion en los primeros años de vida, lo cual ya fue comunicado por Kanner en uno de sus casos originales. Se denomina regresion a la perdida de habilidades sociales, comunicativas o motoras. Es esencial estar atentos ante cualquier cuadro de regresion autista, ya que no siempre es una manifestacion habitual inespecifica del espectro clinico de autismo. Si bien la patogenia de la regresion se comprende poco, debe ser jerarquizada, ya que puede ser parte de diferentes entidades con diversas etiologias. Objetivo. Analizar diferentes entidades que deben evocarse frente a un niño con regresion autista, incluyendo etiologias geneticas, toxicas, fenomenos autoinmunes, nutricionales y epilepsias. Conclusion. Frente a un cuadro de regresion autista es esencial intentar identificar la posible etiologia, dado que esto puede permitir un tratamiento especifico y un adecuado asesoramiento genetico.
Assuntos
Transtorno do Espectro Autista/etiologia , Encefalite Antirreceptor de N-Metil-D-Aspartato/complicações , Transtorno do Espectro Autista/fisiopatologia , Pré-Escolar , Dieta Vegetariana/efeitos adversos , Progressão da Doença , Epilepsia/complicações , Epilepsia/fisiopatologia , Feminino , Humanos , Lactente , Intoxicação do Sistema Nervoso por Mercúrio/complicações , Lipofuscinoses Ceroides Neuronais/complicações , Lipofuscinoses Ceroides Neuronais/genética , Gravidez , Complicações na Gravidez/fisiopatologia , Efeitos Tardios da Exposição Pré-Natal , Síndrome , Tiques/complicações , Deficiência de Vitamina B 12/complicaçõesAssuntos
Ansiedade/cirurgia , Estimulação Encefálica Profunda , Tiques/cirurgia , Síndrome de Tourette/cirurgia , Ansiedade/complicações , Ansiedade/diagnóstico , Seguimentos , Humanos , Masculino , Tiques/complicações , Tiques/diagnóstico , Fatores de Tempo , Síndrome de Tourette/complicações , Síndrome de Tourette/diagnóstico , Adulto JovemRESUMO
OBJECTIVE: To evaluate the clinical features of obsessive-compulsive disorder (OCD) patients with comorbid tic disorders (TD) in a large, multicenter, clinical sample. METHOD: A cross-sectional study was conducted that included 813 consecutive OCD outpatients from the Brazilian OCD Research Consortium and used several instruments of assessment, including the Yale-Brown Obsessive-Compulsive Scale, the Dimensional Yale-Brown Obsessive-Compulsive Scale, the Yale Global Tic Severity Scale (YGTSS), the USP Sensory Phenomena Scale, and the Structured Clinical Interview for DSM-IV Axis I Disorders. RESULTS: The sample mean current age was 34.9 years old (SE 0.54), and the mean age at obsessive-compulsive symptoms (OCS) onset was 12.8 years old (SE 0.27). Sensory phenomena were reported by 585 individuals (72% of the sample). The general lifetime prevalence of TD was 29.0% (n = 236), with 8.9% (n = 72) presenting Tourette syndrome, 17.3% (n = 141) chronic motor tic disorder, and 2.8% (n = 23) chronic vocal tic disorder. The mean tic severity score, according to the YGTSS, was 27.2 (SE 1.4) in the OCD + TD group. Compared to OCD patients without comorbid TD, those with TD (OCD + TD group, n = 236) were more likely to be males (49.2% vs. 38.5%, p < .005) and to present sensory phenomena and comorbidity with anxiety disorders in general: separation anxiety disorder, social phobia, specific phobia, generalized anxiety disorder, post-traumatic stress disorder, attention-deficit hyperactivity disorder, impulse control disorders in general, and skin picking. Also, the "aggressive," "sexual/religious," and "hoarding" symptom dimensions were more severe in the OCD + TD group. CONCLUSION: Tic-related OCD may constitute a particular subgroup of the disorder with specific phenotypical characteristics, but its neurobiological underpinnings remain to be fully disentangled.
Assuntos
Transtorno Obsessivo-Compulsivo/complicações , Transtorno Obsessivo-Compulsivo/epidemiologia , Tiques/complicações , Tiques/epidemiologia , Adulto , Brasil/epidemiologia , Comorbidade , Estudos Transversais , Feminino , Humanos , Masculino , Transtornos de Tique/epidemiologiaRESUMO
INTRODUCTION: Research suggests that obsessive-compulsive disorder (OCD) is not a unitary entity, but rather a highly heterogeneous condition, with complex and variable clinical manifestations. OBJECTIVE: The aims of this study were to compare clinical and demographic characteristics of OCD patients with early and late age of onset of obsessive-compulsive symptoms (OCS); and to compare the same features in early onset OCD with and without tics. The independent impact of age at onset and presence of tics on comorbidity patterns was investigated. METHODS: Three hundred and thirty consecutive outpatients meeting Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition criteria for OCD were evaluated: 160 patients belonged to the "early onset" group (EOG): before 11 years of age, 75 patients had an "intermediate onset" (IOG), and 95 patients were from the "late onset" group (LOG): after 18 years of age. From the 160 EOG, 60 had comorbidity with tic disorders. The diagnostic instruments used were: the Yale-Brown Obsessive Compulsive Scale and the Dimensional Yale-Brown Obsessive Compulsive Scale (DY-BOCS), Yale Global Tics Severity Scale, and Structured Clinical Interview for DSM-IV Axis I Disorders-patient edition. Statistical tests used were: Mann-Whitney, full Bayesian significance test, and logistic regression. RESULTS: The EOG had a predominance of males, higher frequency of family history of OCS, higher mean scores on the "aggression/violence" and "miscellaneous" dimensions, and higher mean global DY-BOCS scores. Patients with EOG without tic disorders presented higher mean global DY-BOCS scores and higher mean scores in the "contamination/cleaning" dimension. CONCLUSION: The current results disentangle some of the clinical overlap between early onset OCD with and without tics.
Assuntos
Transtorno Obsessivo-Compulsivo/complicações , Tiques/complicações , Adulto , Idade de Início , Comorbidade , Manual Diagnóstico e Estatístico de Transtornos Mentais , Feminino , Humanos , Masculino , Pacientes Ambulatoriais , Determinação da Personalidade , Índice de Gravidade de DoençaRESUMO
Obsessive compulsive disorder (OCD) is a complex psychiatric disease characterized by recurring obsessions or compulsions that cause significant distress to the patient. The etiology of this disorder remains largely unknown, although a genetic component has been suggested. Many candidates genes have been evaluated based on a possible serotoninergic and dopaminergic brain dysfunction. We postulate the micro opioid receptor (MOR) gene as a candidate because some observations support a role of the opioid system in OCD. The opioid antagonist, naloxone, rapidly exacerbates OCD symptoms and the opioid agonist, tramadol, was reported to be effective in the treatment of some patients. We studied two single nucleotide polymorphisms (C17T and A118G) in 51 trios with OCD. Genotyping was analyzed with transmission desequilibrium test (TDT). The allelic variant +17T of the C17T polymorphism had a low frequency (1%) in our population that did not allow for statistic analysis. However, for the allelic variant +G of the A118G polymorphism we were able to performed statistical comparisons. Our results showed a trend toward significance (chi(2) McNemar = 3.6, P = 0.065) for TDT in patients with comorbid tics. It is an interesting finding that should be tested in a larger sample of OCD patients with tics.
Assuntos
Predisposição Genética para Doença/genética , Transtorno Obsessivo-Compulsivo/genética , Receptores Opioides mu/genética , Tiques/complicações , Adulto , Alelos , Feminino , Frequência do Gene , Genótipo , Humanos , Desequilíbrio de Ligação , Masculino , Transtorno Obsessivo-Compulsivo/complicações , Polimorfismo de Nucleotídeo ÚnicoRESUMO
We evaluated 44 patients with tics and Tourette's syndrome (TS) emphasising the age of onset of symptoms, sex, classification and localization of tics, associated symptoms and signs and comorbidities. Thirty-three patients (75.2%) had TS defined criteria whereas 10 (22.7%) had chronic motor and/or vocal tics. Simple motor tics were found in 43 cases (97.7%), mainly affecting the eyes (43.2%), mouth (43.2%), face (34.1%). Simple vocal tics occurred in 33 (75%). Coprolalia was found in just 6 cases (13.6%) and copropraxia in just 2 (4.5%). Obsessive compulsive disorder and/or symptoms were found in 26 cases (59.1%) and attention deficit in 17 (38.6%). Eighteen patients (40.9%) had other disorders, such as alcoholism, tabagism, drug abuse, affective disorders, anxiety, sleep and learning disorders. The data obtained are similar to those found by other authors. We highlight the low frequency of coprolalia, as well as the associated neuropsychiatric disorders.
Assuntos
Tiques/complicações , Síndrome de Tourette/complicações , Adolescente , Adulto , Idade de Início , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Brasil/epidemiologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtorno Obsessivo-Compulsivo/complicações , Transtorno Obsessivo-Compulsivo/diagnóstico , Estudos Retrospectivos , Tiques/diagnóstico , Síndrome de Tourette/diagnósticoRESUMO
We evaluated 44 patients with tics and Tourette's syndrome (TS) emphasising the age of onset of symptoms, sex, classification and localization of tics, associated symptoms and signs and comorbidities. Thirty-three patients (75.2 percent) had TS defined criteria whereas 10 (22.7 percent) had chronic motor and/or vocal tics. Simple motor tics were found in 43 cases (97.7 percent), mainly affecting the eyes (43.2 percent), mouth (43.2 percent), face (34.1 percent). Simple vocal tics occurred in 33 (75 percent). Coprolalia was found in just 6 cases (13.6 percent) and copropraxia in just 2 (4.5 percent). Obsessive compulsive disorder and/or symptoms were found in 26 cases (59.1 percent) and attention deficit in 17 (38.6 percent). Eighteen patients (40.9 percent) had other disorders, such as alcoholism, tabagism, drug abuse, affective disorders, anxiety, sleep and learning disorders. The data obtained are similar to those found by other authors. We highlight the low frequency of coprolalia, as well as the associated neuropsychiatric disorders