Francisco Baptista Assumpção Jr

Which factors may play a pivotal role on determining the type of psychiatric disorder in children and adolescents with epilepsy

Physicians have become aware of the high prevalence of psychiatric disorders (PDs) in children and adolescents with epilepsy; however, there are many controversies as to which factors may have an important role in the different types of PD. This study was designed to assess the main PD; verify the age of onset compared with the age of diagnosis of the PD; and determine which factors may be correlated with the type of PD described. For this purpose, a multidisciplinary team evaluated children and adolescents (4-18 years) with epilepsy and analyzed patient-related factors such as age (grouped according to Piagets cognitive scale: <6 years, 7-13 years, >13 years), sex, family history of PDs, and cognitive status. With respect to epilepsy features, we considered age of onset, duration, seizure control at the time of psychiatric evaluation, refractoriness, antiepileptic drugs (mono- vs polytherapy), seizure type (generalized vs focal), and epilepsy type (idiopathic vs symptomatic/probably symptomatic). Depression occurred in 36.4% and attention-deficit hyperactivity disorder (ADHD) in 29.1%, these being the most frequent PDs in this series. Focal epilepsy was significantly more frequent in children and adolescents with PDs. As to the type of PD, age was an important factor, with a predominance of ADHD in children and depression in adolescents (P<0.0001). Family history was contributory for depression, but not for others PDs (P<0.0001). Depression remained underdiagnosed and untreated for a longer period. Impact of early diagnosis and treatment remains unknown.

Dinâmica familiar de crianças autistas

Avaliamos 15 familias de autistas, 15 de portadores da sindrome de Down e 15 de filhos saudaveis, com individuos na faixa etaria de 5 a 15 anos. Os pais (ambos os genitores) desses tres grupos familiares foram avaliados quanto ao a dinâmica familiar, visando relacionar tais sintomas com o funcionamento de familias de autistas, em estudo comparativo. Detalhou-se a familia, o quadro autistico, a familia do autista, a familia e a saude mental, suas limitacoes e dificuldades ao longo do ciclo vital. A pesquisa de campo foi realizada mediante o uso dos instrumentos de dinâmica familiar da Entrevista Familiar Estruturada, (Carneiro,1983). Os dados coletados foram comparados estatisticamente. Considerando a populacao estudada (n = 45 familias) constatou-se que as familias dos autistas e portadores da sindrome de Down sao dificultadoras da saude emocional dos elementos do grupo, constituindo as dos autistas maior porcentagem. Concluimos que a dinâmica familiar do autista e dificultadora da saude emocional dos membros do grupo, seus pais apresentam estresse, sendo as maes com scores mais significativos mas semelhantes nos outros dois grupos.

Qualidade de vida e autismo

OBJECTIVE: To evaluate the index quality of life (QL) in bearers of including upset of the development. METHOD: 20 autistic childrens, between 4 and 12 years, submitted to the diagnostic evaluation by autistic traces scale-ATA and for the Vineland adaptive behavior scales, needing to obtain in this a quotient of superior development over 70. The data about QL were obtained by the scale of quality of life-AUQEI and compared from the application of Vineland and of AUQEI in a population of normal children, resembling in the sex and in the age. RESULTS: In the evaluation of the ATA, average was 33.75 with 4.95 standard deviation. The indexes of Vineland suggest that normal children have larger probability to present level of appropriated adaptative behavior than autistic children (p=0.0196). Concerning QL, the general indexes are the same for both groups, indicating positive QL (p=0.744). In the sub domain autonomy, autistic children present higher index (p=0.0048). CONCLUSION: Autistic childrens present similar indexes of QL than normal childrens.

Escala de avaliação da reação de retração no bebê: Um estudo de validade

It should take into account the psychopatologic context and the childs development moment to evaluate the baby alarm distress from a standardized instrument. We present the BADS questionnaire validation by its application in 90 children, from 0 to 2 years-old, obtaining a K=0.783 to p<0.01, with a Spearman coeficient of 0.866 and factorial analysis to 4 factors to 63.5% of the population studied. With these psychometrical qualities, the scale shows its importance as a screening but is important its study in others populations.

SDQ (Strengths and Difficulties Questionnaire): identificação de características comportamentais de crianças leitoras

The purpose of this study was to verify behavioral characteristics of children with typical reading development by means of the Strengths and Difficulties Questionnaire (SDQ). This brief questionnaire is a useful measure in psychopathology applied to children and young people from 4 to 16 years. The SDQ is divided in five subscales: prosocial behavior problems, hyperactivity, and emotional, conduct and relationship problems. The participants were parents and teachers of 74 children, attending 2nd,, 3rd, or 4th grades in a public school in the city of Sao Paulo. The children had no general development and language disorders, and scholars problems. Parents and teachers answered the questionnaires. The answers to the SDQ differed between parents and teachers, and regarding to childrens gender and grade. These differences may reflect communication and behavioral changes resulting from experienced situations in childrens present developmental stage.

Síndrome de Landau-Kleffner e regressão autística: a importância do diagnóstico diferencial

Some neurological disorders may present psychiatric signs and symptoms, therefore the search for an etiological diagnosis is crucial. The aim of this study is to report the case of a patient with a neurological disorder, diagnosed during a psychiatric admission. A boy with normal neuropsychomotor development until the age of 3 years, started presenting epileptic seizures, followed by behavioral disorder and language deterioration. During neurologic follow-up, the patient was referred to the Psychiatry Department with a diagnosis of autism, in this case an autistic regression (AR). During his admission, diagnosis of Landau-Kleffner syndrome (LKS) was established on clinical and EEG grounds. LKS is characterized by acquired aphasia, epilepsy, EEG abnormalities and behavioral changes, including autistic traits. Language regression is observed LKS and AR. We stress the main differences between these two entities because misdiagnosis may postpone early intervention and consequent benefits, as observed in our case.Some neurological disorders may present psychiatric signs and symptoms, therefore the search for an etiological diagnosis is crucial. The aim of this study is to report the case of a patient with a neurological disorder, diagnosed during a psychiatric admission. A boy with normal neuropsychomotor development until the age of 3 years, started presenting epileptic seizures, followed by behavioral disorder and language deterioration. During neurologic follow-up, the patient was referred to the Psychiatry Department with a diagnosis of autism, in this case an autistic regression (AR). During his admission, diagnosis of Landau-Kleffner syndrome (LKS) was established on clinical and EEG grounds. LKS is characterized by acquired aphasia, epilepsy, EEG abnormalities and behavioral changes, including autistic traits. Language regression is observed LKS and AR. We stress the main differences between these two entities because misdiagnosis may postpone early intervention and consequent benefits, as observed in our case.

Rett syndrome: clinical and molecular characterization of two Brazilian patients

BACKGROUND Rett syndrome (RS) is recognized as a pan-ethnic condition. Since the identification of mutations in the MECP2 gene, more patients have been diagnosed, and a broad spectrum of phenotypes has been reported. There is a lack of phenotype-genotype studies. OBJECTIVE To describe two cases of Brazilian patients with identified MECP2 mutations. METHOD We present two female Brazilian patients with RS. RESULTS Both patients presented with regression at 2-3 years of age, when stereotypic hand movements, social withdrawal and postnatal deceleration of head growth rate were observed. Both patients presented verbal communication impairment. Case 1 had loss of purposeful hand movements, and severe seizure episodes. Case 2 had milder impairment of purposeful hand movements, and no seizures. They had different mutations, D97Y and R294X, found in exons 3 and 4 of MECP2 gene, respectively. CONCLUSION Testing for MECP2 mutations is important to confirm diagnosis and to establish genotype/phenotype correlations, and improve genetic counseling.

Autismo infantil, transtorno bipolar e retardo mental em portador de síndrome da rubéola congênita: relato de caso

We describe an autistic male adolescent with congenital rubella who has developed bipolar disorder, discussing possible diagnostic and therapeutic implications.

A case of pervasive developmental disorder with chromosomal translocation 1-4

We describe a 5-year-old girl with pervasive developmental disorder associated to chromosome 1-4 translocation, an association that has not been described in specialized literature until this moment.

Reconhecimento olfativo nos transtornos invasivos do desenvolvimento

OBJETIVO: Avaliar o reconhecimento olfativo nos transtornos invasivos do desenvolvimento (TID). METODO: Vinte e um adolescentes do sexo masculino com TID (grupo experimental) e 21 controles pareados (grupo controle) foram submetidos a um teste olfativo padronizado, consistindo em doze estimulos, em tres momentos distintos: sem nenhuma sugestao quanto a identificacao; associados a quatro alternativas linguisticas para cada estimulo; e reapresentados, 25 dias apos, sem alternativas linguisticas. Avaliaram-se os resultados obtidos atraves de teste t e analise de variância (p=0,05). RESULTADOS: O grupo experimental apresentou pior desempenho que o controle. Em ambos os grupos, os acertos aumentaram apos estimulo e, apos 25 dias, os acertos diminuiram, mas mantiveram um nivel maior que aquele observado ao momento inicial, sem estimulo (p<0,001). A diferenca foi maior apos 25 dias, com o grupo experimental apresentando pior memoria olfativa do momento anterior (p<0,001). CONCLUSAO: O grupo experimental apresentou menores taxas de reconhecimento, independente das pistas anteriormente fornecidas, o que sugere uma dificuldade na associacao do fenomeno e seu significado semântico. Mesmo com a nomeacao dos odores controlada, a diferenca nas taxas de reconhecimento permanece entre os dois grupos, nao apenas com padrao deficitario, mas qualitativamente alterado.