RESUMO
PURPOSE: This study aimed to analyze prosodic elements of speech segments of students with Autism Spectrum Disorders (ASD) and compare with the control group, using an acoustic analysis. METHODS: Speech recordings were performed with a sample of individuals with ASD (n = 19) and with typical development (n = 19) of the male gender, age range: 8-33 years. The prosody questionnaire ALIB (Brazilian Linguistic Atlas) was used as script, which contains interrogative, affirmative and imperative sentences. Data were analyzed using the PRAAT software and forwarded to statistical analysis in order to verify possible significant differences between the two groups studied in each prosodic parameter evaluated (fundamental frequency, intensity and duration) and its respective variables. RESULTS: There were significant differences for the variables tessitura, melodic amplitude of tonic vowel, melodic amplitude of pretonic vowel, maximum intensity, minimum intensity, tonic vowel duration, pretonic vowel duration and phrase duration. CONCLUSION: Individuals with ASD present significant differences in prosody compared to those with typical development. It is noteworthy, however, the necessity of additional studies on the characterization of prosodic aspects of speech of individuals with ASD with a larger sample and a more restricted age group.
Assuntos
Transtorno do Espectro Autista/fisiopatologia , Medida da Produção da Fala , Adolescente , Adulto , Transtorno do Espectro Autista/complicações , Estudos de Casos e Controles , Criança , Linguagem Infantil , Humanos , Masculino , Fonação , Acústica da Fala , Distúrbios da Fala/etiologia , Qualidade da Voz , Adulto JovemRESUMO
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.
Assuntos
Proteína 2 de Ligação a Metil-CpG/genética , Mutação , Fenótipo , Síndrome de Rett/genética , Adulto , Pré-Escolar , Feminino , Humanos , Masculino , Síndrome de Rett/diagnósticoRESUMO
We describe an autistic male adolescent with congenital rubella who has developed bipolar disorder, discussing possible diagnostic and therapeutic implications.
Assuntos
Transtorno Autístico/etiologia , Transtorno Bipolar/etiologia , Síndrome da Rubéola Congênita/complicações , Adolescente , Transtorno Bipolar/diagnóstico , Humanos , Deficiência Intelectual/complicações , MasculinoRESUMO
It should take into account the psychopatologic context and the child's 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 coefficient 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.
Assuntos
Comportamento do Lactente , Escalas de Graduação Psiquiátrica , Desenvolvimento Infantil , Pré-Escolar , Humanos , Lactente , Comportamento do Lactente/fisiologia , Comportamento do Lactente/psicologia , Recém-Nascido , Estimulação Física , Reprodutibilidade dos Testes , Inquéritos e QuestionáriosRESUMO
The evaluation of the withdrawal reaction in small children using a standardized instrument should take into account the child's psychopatologic context and its child's development moment. We present the BADS questionnaire validation by its application in 35 children aged 0 to 2 years-old with pediatric diseases, coming from Santa Casa de São Paulo. The results were compared with those of 90 normal children who were evaluated in a previous study of the same author. The test used was the independent t test, with mean scores of 5.90 +/- 2.57 for normal children and 6.37 +/- 4.83 for sick children, with p= 0,651 and significance level of 5%. Thus, it was observed that the withdrawal reaction in sick children is not significantly different for that for normal children. With these results, the scale shows its importance as a screening instrument.
Assuntos
Transtornos do Comportamento Infantil/diagnóstico , Desenvolvimento Infantil , Comportamento do Lactente , Escalas de Graduação Psiquiátrica , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Programas de Rastreamento/métodos , Desempenho Psicomotor , Reprodutibilidade dos Testes , Inquéritos e QuestionáriosRESUMO
Estudos longitudinais de famílias com elementos portadores de doenças crônicas mostram que elas auxiliam na recuperaçao do indivíduo doente, na integraçao social e aderência ao tratamento. Os autores, neste trabalho, abordam algumas questoes das relaçoes familiares quando nasce uma criança deficiente mental, que causa alteraçoes substanciais no papel dos demais elementos do grupo familiar, evidenciando-se a necessidade de um ajustamento que favorecerá o sistema a cumprir adequadamente o desenvolvimento e a maturaçao das potencialidades da família.