Trastorno del espectro autista: caracterización clínica en pacientes de dos centros de referencia en bogotá, colombia / Autism spectrum disorder: clinical characterization of patients at two reference centers in bogotá, colombia / Transtorno do espectro autista: caracterização clínica em pacientes de dois centros de referência em bogotá, colômbia

Resumen Introducción. Los pacientes con trastornos del espectro autista (TEA) presentan gran heterogeneidad en sus características comportamentales, cognitivas, médicas y psiquiátricas. En nuestro medio, no existe una descripción de tales variables. Si bien otros estudios han descrito un perfil clínico característico, es necesario conocer nuestra población blanco. Objetivo. Caracterizar clínicamente los pacientes con diagnóstico de TEA de dos centros de referencia, en Bogotá. Pacientes y métodos. Estudio retrospectivo observacional y descriptivo de serie de casos documentados en historias clínicas de enero de 2010 a enero de 2014. Se revisaron las historias clínicas de todos los pacientes con TEA confirmada por diagnóstico, incluyendo datos sociodemográficos, antecedentes personales y familiares, así como factores de riesgo descritos en la literatura en relación con la aparición de TEA; ayudas diagnósticas, comorbilidades y tratamiento. Resultados. Ochenta y un casos cumplieron los criterios de inclusión. En la serie, se encontró predominio en el género masculino (94,1 %), complicaciones perinatales (43 %) y prematurez (7,6 %). Las principales comorbilidades fueron trastornos conductuales (63 %), epilepsia (23,5 %) y trastorno por déficit de atención e hiperactividad (23 %). Fue significativa la asociación entre epilepsia y discapacidad intelectual: 84 % (p<0,001). La asociación con síndromes genéticos o errores innatos del metabolismo fue mínima en nuestra serie. Los estudios complementarios fueron normales en la mayoría de los casos. Conclusiones. En nuestra serie predominó el autismo no sindrómico; la presentación clínica, el abordaje diagnóstico y terapéutico concuerdan con lo reportado en la literatura mundial. Los elementos clínicos constituyen la principal herramienta diagnóstica, el manejo conductual es el pilar de tratamiento. Estudios analíticos enfocados hacia las variables más significativas, permitirán la creación de estrategias terapéuticas dirigidas a nuestra población.

Summary Introduction: Patients with autism spectrum disorders (ASD) present great heterogeneity in their behavioral, cognitive, medical and psychiatric characteristics. In our environment, there is no description of such variables. Even though other studies have described a characteristic clinical profile, it is necessary to know our white population. Objective: Clinically characterize patients diagnosed with ASD at two reference centers in Bogotá. Patients and methods: Retrospective, observational and descriptive study of a series of cases documented in medical records from January 2010 to January 2014. The clinical histories of all patients with a confirmed diagnosis of ASD were reviewed, including sociodemographic data, personal and family history, as well as risk factors described in the literature in relation to the occurrence of ASD; diagnostic aids, comorbidities, and treatment. Results: Eighty-one cases met the inclusion criteria. In the series, predominance was found in the male gender (94.1%), perinatal complications (43%) and prematurity (7.6%). The main comorbidities were behavioral disorders (63%), epilepsy (23.5%) and attention deficit hyperactivity disorder (23%). The association between epilepsy and intellectual disability was significant at 84% (p <0.001). The association with genetic syndromes or inborn errors of metabolism was minimal in our series. Complementary studies were normal in most cases. Conclusions: In our series, non-syndromic autism predominated; the clinical presentation, the diagnostic and therapeutic approach all agree with what is reported in the world literature. The clinical elements constitute the main diagnostic tool, and behavioral management is the pillar of treatment. Analytical studies focused on the most significant variables will allow for the creation of therapeutic strategies aimed at our population.

Resumo Introdução. Os pacientes com transtornos do espectro autista (TEA) apresentam grande heterogeneidade em suas características comportamentais, cognitivas, médicas e psiquiátricas. Em nosso meio, não existe uma descrição de tais variáveis. Se bem que outros estudos têm descrito um perfil clínico característico, é necessário conhecer nossa população alvo. Objetivo. Caracterizar clinicamente os pacientes com diagnóstico de TEA de dois centros de referência em Bogotá. Pacientes e Métodos. Estudo retrospectivo observacional e descritivo de serie de casos documentados em histórias clínicas de janeiro de 2010 a janeiro de 2014. Revisaram-se as histórias clínicas de todos os pacientes com TEA con firmada por diagnóstico, incluindo dados sócio demográficos, antecedentes pessoais e familiares, assim como fatores de risco descritos na literatura em relação com a aparição de TEA; ajudas diagnósticas, co-morbilidades e tratamento. Resultados. Oitenta e um casos cumpriram os critérios de inclusão. Na série, se encontrou predomínio no gênero masculino (94,1 %), complicações perinatais (43 %) e prematuridade (7,6 %). As principais co-morbilidades foram transtornos de conduta (63 %), epilepsia (23,5 %) e transtorno por déficit de atenção e hiperatividade (23 %). Foi significativa a associação entre epilepsia e incapacidade intelectual: 84 % (p<0,001). A associação com síndromes genéticas ou erros inatos do metabolismo foi mínima em nossa série. Os estudos complementares foram normais na maioria dos casos. Conclusões. Em nossa série predominou o autismo não sindrômico; a apresentação clínica, a abordagem diagnóstica e terapêutica concordam com a informação reportada na literatura mundial. Os elementos clínicos constituem a principal ferramenta diagnóstica, o manejo da conduta é o pilar de tratamento. Estudos analíticos enfocados às variáveis mais significativas permitirão a criação de estratégias terapêuticas dirigidas a nossa população.

Childhood autism spectrum disorders with and without epilepsy: clinical implications.

This prospective cross-sectional study compared 25 children with pervasive developmental disorder and epilepsy and 25 children having pervasive developmental disorder without epilepsy on pervasive developmental disorder scores, Childhood Autism Rating Scale scores, language disability, presence of regression, and epileptiform abnormalities. Epilepsy phenotype was also studied. Children with pervasive developmental disorder and epilepsy had higher pervasive developmental disorder scores (P = .001), higher Childhood Autism Rating Scale scores (P = .016), and lower social quotient (P = .09). More than 50% of children with pervasive developmental disorder and epilepsy and 12% of children having pervasive developmental disorder without epilepsy had epileptiform abnormalities in electroencephalography (EEG). Regression of milestones was significantly associated with epilepsy and epileptiform abnormalities. Children with pervasive developmental disorder and epilepsy might have a worse developmental trajectory requiring intensive management. A behavioral phenotype of autism may coexist often in children with epilepsy, EEG abnormalities, and regression. Seizures might be difficult to control in these children despite adequate compliance. Studies with larger sample size and longitudinal follow-up will provide better understanding.

[Pharmacological treatments in patients with pervasive developmental disorders: A review]. / Efficacité des traitements pharmacologiques dans les troubles envahissants du développement : une revue de la littérature.

BACKGROUND: Pervasive developmental disorders (PDD) are neurodevelepmental disorders that are characterized by severe deficits in socialisation and communication, and the existence of repetitive and stereotyped interests and behaviours. It is estimated more than 60/100,000 children are suffering from PDD. Comorbid disorders are common in people with PDD, including intellectual deficiency, symptoms of attention deficit-hyperactivity, aggression and disruption, and pervasive repetitive behaviours or thoughts. These symptoms have a negative impact on the outcome and quality of life of the patients and their caregivers. The first-line management of comorbid disorders in PDD is behavioural intervention, but sometimes this is not sufficient, and the use of pharmacological treatment is needed. METHOD: We conducted a review of studies of medical treatments used in patients with PDD to establish which treatments show good evidence of efficacy in PDD. We used the Medline database and the following keywords "pervasive development disorders" or "autism spectrum disorders" or "autistic disorder" and "therapy" or "treatment". RESULTS: The treatments that showed the best efficacy on irritability in well-designed studies are second generation antipsychotics, risperidone and aripiprazole. Some studies indicate that haloperidol is efficient as well, but the very high frequency of extra-pyramidal effects limits its use. Methylphenidate has shown some efficacy on impulsivity and hyperactivity in randomised placebo-controlled studies. First data concerning atomoxetine are promising but better-designed studies are needed. Selective serotonin re-uptake inhibitors: fluvoxamine and fluoxetine have shown some efficacy in the treatment of serious and pervasive repetitive behaviours. Alpha-adrenergic treatments, clonidine and guanfacine, can help in the management of disruptive behaviours in patients with PDD. Data concerning naltrexone are contradictory, indeed many case reports of its efficacy on aggressive (mostly auto-aggressive) behaviours are reported in the literature, but well-designed studies do not find any improvement in patients treated with naltrexone compared with patients treated with placebo. First data concerning ocytocin are promising, indeed, if they were to be confirmed, that would be the first treatment efficient on the core symptoms of PDD.

Autism spectrum disorders: an overview on diagnosis and treatment

Pervasive developmental disorders are now commonly referred to as autism spectrum disorders (ASDs). ASDs present with a range of severity and impairments, and often are a cause of severe disability, representing a major public health concern. The diagnostic criteria require delays or abnormal functioning in social interaction, language, and/or imaginative play within the first 3 years of life, resulting in a deviation from the developmental pattern expected for the age. Because establishing a diagnosis of ASD is possible as early as 18-24 months of age, clinicians should strive to identify and begin intervention in children with ASD as soon as signs are manifest. Increasing efforts are underway to make ASD screening universal in pediatric healthcare. Given the crucial importance of early identification and multiple modalities of treatment for ASD, this review will summarize the diagnostic criteria, key areas for assessment by clinicians, specific scales and instruments for assessment, and discussion of evidence-based treatment programs and the role of specific drug therapies for symptom management.

Análise institucional do discurso de professores de alunos diagnosticados como autistas em inclusão escolar1 / Análisis Institucional del Discurso de maestros de alumnos con diagnóstico de autismo en inclusión escolar / Institutional Discourse OF Analysis of teachers of students diagnosed as autist in schoolar inclusion

A atualidade e relevância da inclusão escolar tornam necessário o estudo de diversos aspectos envolvidos no processo. O levantamento bibliográfico realizado evidenciou a escassez de estudos sobre condições institucionais envolvidas na escolarização de crianças diagnosticadas como autistas. Tomou-se a análise institucional do discurso (AID) como método a fim de investigar, com base em seis entrevistas com professoras, a concepção sobre o desenvolvimento de alunos diagnosticados como portadores de transtornos globais do desenvolvimento infantil (TGD) e as posições assumidas pelos profissionais na escolarização dessas crianças. Foram constatadas oposições que caracterizam a recorrente concepção de "alunos-problema". A localização do aluno como estando fora de padrão aparece, então, como grande desafio da inclusão, uma vez que não há predeterminação para o trabalho do professor, da escola, do tratamento e do desenvolvimento do aluno. As professoras ora nutrem um olhar individualizado para o aluno, ora tecem comparações com o grupo de alunos normais. Os "alunos-problema" caracterizam a situação de "não conhecimento", a que a inclusão expõe os professores(AU)

The currentness and importance of educational inclusion turn the study of several aspects involved needed for its understanding. The literature review found a lack of studies on institutional arrangements involved in the schooling of children diagnosed as autistic. Using the Institutional Discourse Analysis as a method to investigate, through interviews with six teachers, the idea on the development of students diagnosed with autism or Pervasive Development Disorder and the positions taken by professionals in the education of these children. It was found present in the speech oppositions that characterize the concept of "student-problem". The lack of standards are said to be the great challenge of inclusion, once there isn't a pre-determination for the work of the teacher, school, treatment and the child's development whose conception transits between the individual work and the comparison with the group, which characterize the feeling of "lack of knowledge" characteristic of the position of inclusion.(AU)

La actualidad y la relevancia de la inclusión escolar hacen necesario el estudio de distintos aspectos implicados en el proceso. El examen de la bibliografía realizado ha evidenciado la escasez de estudios acerca de condiciones institucionales implicadas en la escolaridad de niños con diagnóstico de autismo. Se ha tomado el análisis institucional del discurso como el método a fin de investigar, desde seis entrevistas con maestras, la concepción acerca del desarrollo de alumnos con diagnóstico de transtorno global del desarrollo o autismo y las posiciones asumidas por los profesionales en la educación escolar de esos niños. Se ha constatado presentes en el discurso oposiciones que caracterizan la concepción de "alumnos-problema". La ausencia de padrón es caracterizada, entonces, cómo el grande desafío de la inclusión desde que no hay predeterminación para el trabajo del maestro, de la escuela, del tratamiento y del desarrollo del alumno. Ese lugar transita por entre el individualizado y la comparación con el grupo, que caracterizan la situación de "falta de reconocimiento", que es característico de la posición de la inclusión.(AU)

Análise institucional do discurso de professores de alunos diagnosticados como autistas em inclusão escolar1 / Institutional Discourse OF Analysis of teachers of students diagnosed as autist in schoolar inclusion / Análisis Institucional del Discurso de maestros de alumnos con diagnóstico de autismo en inclusión escolar

A atualidade e relevância da inclusão escolar tornam necessário o estudo de diversos aspectos envolvidos no processo. O levantamento bibliográfico realizado evidenciou a escassez de estudos sobre condições institucionais envolvidas na escolarização de crianças diagnosticadas como autistas. Tomou-se a análise institucional do discurso (AID) como método a fim de investigar, com base em seis entrevistas com professoras, a concepção sobre o desenvolvimento de alunos diagnosticados como portadores de transtornos globais do desenvolvimento infantil (TGD) e as posições assumidas pelos profissionais na escolarização dessas crianças. Foram constatadas oposições que caracterizam a recorrente concepção de "alunos-problema". A localização do aluno como estando fora de padrão aparece, então, como grande desafio da inclusão, uma vez que não há predeterminação para o trabalho do professor, da escola, do tratamento e do desenvolvimento do aluno. As professoras ora nutrem um olhar individualizado para o aluno, ora tecem comparações com o grupo de alunos normais. Os "alunos-problema" caracterizam a situação de "não conhecimento", a que a inclusão expõe os professores.

The currentness and importance of educational inclusion turn the study of several aspects involved needed for its understanding. The literature review found a lack of studies on institutional arrangements involved in the schooling of children diagnosed as autistic. Using the Institutional Discourse Analysis as a method to investigate, through interviews with six teachers, the idea on the development of students diagnosed with autism or Pervasive Development Disorder and the positions taken by professionals in the education of these children. It was found present in the speech oppositions that characterize the concept of "student-problem". The lack of standards are said to be the great challenge of inclusion, once there isn't a pre-determination for the work of the teacher, school, treatment and the child's development whose conception transits between the individual work and the comparison with the group, which characterize the feeling of "lack of knowledge" characteristic of the position of inclusion.

La actualidad y la relevancia de la inclusión escolar hacen necesario el estudio de distintos aspectos implicados en el proceso. El examen de la bibliografía realizado ha evidenciado la escasez de estudios acerca de condiciones institucionales implicadas en la escolaridad de niños con diagnóstico de autismo. Se ha tomado el análisis institucional del discurso como el método a fin de investigar, desde seis entrevistas con maestras, la concepción acerca del desarrollo de alumnos con diagnóstico de transtorno global del desarrollo o autismo y las posiciones asumidas por los profesionales en la educación escolar de esos niños. Se ha constatado presentes en el discurso oposiciones que caracterizan la concepción de "alumnos-problema". La ausencia de padrón es caracterizada, entonces, cómo el grande desafío de la inclusión desde que no hay predeterminación para el trabajo del maestro, de la escuela, del tratamiento y del desarrollo del alumno. Ese lugar transita por entre el individualizado y la comparación con el grupo, que caracterizan la situación de "falta de reconocimiento", que es característico de la posición de la inclusión.

Prenatal, Perinatal and Infancy History of Autism Spectrum Disorder

OBJECTIVES: The purpose of this study was to evaluate the prenatal, perinatal, and infancy history of children with autism spectrum disorder (ASD) as compared to unaffected siblings (SIB) and typically developing children (TC). METHODS: Subjects with ASD, their SIB, and TC were recruited. All subjects were assessed using both the Korean version of Autism Diagnostic Interview-Revised (K-ADI-R) and the Korean version of Autism Diagnostic Observation Schedule (K-ADOS) and were subsequently identified as affected or unaffected. Prenatal, perinatal, and infancy history was obtained from the primary caregivers and each facet was compared in those with ASD, the SIB, and the TC groups using SPSS ver. 17.0 (p<.05). RESULTS: 70 individuals with ASD (63 males, 87.94+/-37.8months), 53 SIB (27 males, 85.40+/-48.06 months), and 32 TC (19 males, 104.19+/-23.409 months) were analyzed. The ASD group showed significantly higher rates of insufficient vaccination as they aged age (chi2=15.54, p=.000). Among the scheduled vaccinations, the DPT vaccination (chi2=10.08, p=.006) was insufficient in ASD groups. The ASD group also showed higher rates of sleep disturbances from infancy. Differences in maternal/paternal age at conception, gestational age, and growth parameters at birth were not significantly difference among the three groups. CONCLUSION: These results do not support the previous controversies regarding the relationship between prenatal/perinatal complications and ASD. However, these results indicate that perinatal and prenatal factors may contribute to the development of ASD.

Instrument to screen cases of pervasive developmental disorder: a preliminary indication of validity / Instrumento para rastreamento dos casos de transtorno invasivo do desenvolvimento: estudo preliminar de validação

OBJECTIVE: To translate into Portuguese, back-translate, culturally adapt and validate a screening instrument for pervasive developmental disorder, the Autism Screening Questionnaire, for use in Brazil. METHOD: A sample of 120 patients was selected based on three groups of 40: patients with a clinical diagnosis of pervasive developmental disorder, Down syndrome, or other psychiatric disorders. The self-administered questionnaire was applied to the patients' legal guardians. Psychometric measures of the final version of the translated questionnaire were tested. RESULTS: The score of 15 had sensitivity of 92.5 percent and specificity of 95.5 percent as a cut-off point for the diagnosis of pervasive developmental disorder. Internal validity for a total of 40 questions was 0.895 for alpha and 0.896 for KR-20, ranging from 0.6 to 0.8 for both coefficients. Test and retest reliability values showed strong agreement for most questions. CONCLUSIONS: The final version of this instrument, translated into Portuguese and adapted to the Brazilian culture, had satisfactory measurement properties, suggesting preliminary validation proprieties. It was an easy-to-apply, useful tool for the diagnostic screening of individuals with pervasive developmental disorder.

OBJETIVO: Tradução, retro-versão, adaptação cultural e validação do Autism Screening Questionnaire para a língua portuguesa e para o seu uso no Brasil. MÉTODO: Foi selecionada uma amostra inicial de 120 pacientes, encaminhados de duas clínicas privadas e uma pública, divida em três grupos de 40 pacientes distintos: pacientes com diagnóstico clínico de transtornos globais do desenvolvimento ou transtornos invasivos do desenvolvimento; de síndrome de Down e de outros transtornos psiquiátricos. O questionário foi aplicado aos responsáveis legais dos pacientes seguindo os padrões de um questionário auto-aplicável. As medidas psicométricas do questionário traduzido, na sua versão final, foram testadas. RESULTADOS: Valores de sensibilidade de 92,5 por cento e especificidade de 95,5 por cento foram encontrados para uma pontuação de 15, como sendo um valor discriminativo para os sujeitos com características de transtornos globais do desenvolvimento/transtornos invasivos do desenvolvimento. A validade interna para o total das 40 questões foi de 0,895, com uma variação entre 0,6 a 0,8. Os valores de confiabilidade obtidos pelo teste e re-teste demonstraram que a maioria das questões obteve alta concordância. CONCLUSÕES: A versão final do instrumento de pesquisa, traduzido e adaptado à cultura brasileira, apresentou propriedades de medida satisfatórias, sugerindo adequadas propriedades preliminares de validação. É um instrumento de fácil aplicação e uma ferramenta útil para a realização de um screening diagnóstico em indivíduos com transtornos globais do desenvolvimento/transtornos invasivos do desenvolvimento.