Sindrome de Rett. Reporte de dos casos / Rett syndrome. Two Cases Report

El Síndrome de Rett es un trastorno severo del neurodesarrollo, caracterizado por un desarro- llo psicomotor aparentemente normal hasta los primeros 6 meses de vida seguido por el estancamiento y regresión del crecimiento, sistema motor, lenguaje y habilidades sociales posteriores, no asociado a una injuria cerebral por trauma, desordenes metabólicos o infec- ciones severas. A menudo se observa un com- portamiento autista en etapas tempranas: otros síntomas que acompañan este trastorno incluyen convulsiones, alteraciones respirato- rias como la hiperventilación, apnea y aerofa- gia, ataxia y estereotipas con las manos. Repre- senta la segunda causa de discapacidad inte- lectual en las mujeres. Es causado por una mutación ligada a X que codifica a la proteína ligadora de metil CpG-2 (MECP2). A continua- ción se presentan dos casos de pacientes con síndrome de Rett una de ellas con estudio molecular positivo...(AU)

Comparing the results of DAADD and ABC of children included in autism spectrum disorders.

PURPOSE: To verify if there are characteristic behaviors of the different diagnosis included in the autism spectrum according to the Differential Assessment of Autism and Other Developmental Disorders (DAADD) and to the Autism Behavior Checklist (ABC). METHOD: Participants were 45 individuals and their respective speech-language therapists. All therapists are graduate students working with the children for at least 1 year. This time was considered sufficient to the therapists to have the information required by the DAADD questionnaire. It is comprised by 3 protocols specifically designed to children with 2 to 4 years, 4 to 6 years and 6 to 8 years, the same criteria used to separate the research groups, G1, G2 and G3, respectively. Data referring to the ABC were retrieved from the subject's files at the Laboratório de Investigação Fonoaudiológica nos Distúrbios do Espectro do Autismo (Research Laboratory on Language Disorders in the Autism Spectrum) of the School of Medicine, Universidade de São Paulo, where it is routinely applied during the annual assessment. RESULTS: Answers to the different areas of DAADD are similar to the different areas of ABC. These data show data the diagnosis by DAADD is easier in older children. Although there is no significant difference, the large occurrence of Rett's syndrome diagnosis according to the DAADD was associated to higher risk for autism according to the ABC in G1. With increasing age this tendency decreases and either in G2 and G3 Autism is the most frequent diagnosis. CONCLUSION: Although the results of both questionnaires tend to agree more with increasing age, the DAADD is more sensitive in the different ages while the ABC if more specific only to older children.

Comparing the results of DAADD and ABC of children included in Autism Spectrum Disorders / Comparação entre os resultados dos protocolos DAADD e ABC de crianças incluídas nos Distúrbios do Espectro do Autismo

PURPOSE: To verify if there are characteristic behaviors of the different diagnosis included in the autism spectrum according to the Differential Assessment of Autism and Other Developmental Disorders (DAADD) and to the Autism Behavior Checklist (ABC). METHOD: Participants were 45 individuals and their respective speech-language therapists. All therapists are graduate students working with the children for at least 1 year. This time was considered sufficient to the therapists to have the information required by the DAADD questionnaire. It is comprised by 3 protocols specifically designed to children with 2 to 4 years, 4 to 6 years and 6 to 8 years, the same criteria used to separate the research groups, G1, G2 and G3, respectively. Data referring to the ABC were retrieved from the subject's files at the Laboratório de Investigação Fonoaudiológica nos Distúrbios do Espectro do Autismo (Research Laboratory on Language Disorders in the Autism Spectrum) of the School of Medicine, Universidade de São Paulo, where it is routinely applied during the annual assessment. RESULTS: Answers to the different areas of DAADD are similar to the different areas of ABC. These data show data the diagnosis by DAADD is easier in older children. Although there is no significant difference, the large occurrence of Rett's syndrome diagnosis according to the DAADD was associated to higher risk for autism according to the ABC in G1. With increasing age this tendency decreases and either in G2 and G3 Autism is the most frequent diagnosis. CONCLUSION: Although the results of both questionnaires tend to agree more with increasing age, the DAADD is more sensitive in the different ages while the ABC if more specific only to older children. .

OBJETIVO: Verificar a existência de comportamentos característicos de diferentes quadros incluídos nos Distúrbios do Espectro do Autismo identificados segundo o Differential Assessment of Autism and Other Developmental Disorders (DAADD) e a Autism Behavior Checklist (ABC). MÉTODO: Participaram desta pesquisa 45 indivíduos autistas e suas respectivas terapeutas. Todas as terapeutas são fonoaudiólogas pós-graduandas e atendiam os sujeitos há pelo menos um ano, tempo considerado suficiente para fornecer as informações solicitadas pelo DAADD. Ele é composto por três protocolos especificamente dirigidos a crianças entre dois e quatro anos de idade, quatro e seis anos, e seis e oito anos, o mesmo critério usado para dividir os grupos da pesquisa em G1, G2 e G3, respectivamente. Os dados referentes à ABC foram retirados dos protocolos dos sujeitos, registrados no acervo do Laboratório de Investigação Fonoaudiológica nos Distúrbios do Espectro do Autismo da Faculdade de Medicina da Universidade de São Paulo, uma vez que ele é regularmente aplicado a todos os pacientes durante o processo de avaliação anual. RESULTADOS: As respostas do DAADD, por área, se aproximam das respostas do ABC, também por área. Os dados evidenciam que, conforme a idade aumenta, é mais fácil identificar o diagnóstico pelo DAADD. Apesar de não haver diferença estatisticamente significativa, a grande ocorrência do diagnóstico de SR obtida no DAADD associou-se à alta probabilidade no ABC para o G1. Conforme aumenta a idade, essa prevalência diminui, sendo o autismo mais prevalente no item alta probabilidade tanto para o G2 quanto para o G3. CONCLUSÃO: Apesar de os protocolos serem mais concordantes conforme aumentam as idades, por faixa etária, o DAADD se mostra mais ...

Comparing the use of the Childhood Autism Rating Scale and the Autism Behavior Checklist protocols to identify and characterize autistic individuals.

PURPOSE: To compare the results obtained in the Autism Behavior Checklist with those obtained in the Childhood Autism Rating Scale to identify and characterize children with Autism Spectrum Disorders. METHODS: Participants were 28 children with psychiatric diagnosis within the autism spectrum that were enrolled in language therapy in a specialized service. These children were assessed according to the Autism Behavior Checklist and Childhood Autism Rating Scale criteria, based on information obtained with parents and therapists, respectively. Data were statistically analyzed regarding the agreement between responses. Results indicating high or moderate probability of autism in the Autism Behavior Checklist were considered concordant with the results indicating mild-to-moderate or severe autism in the Childhood Autism Rating Scale. Results indicating low probability of autism in the Autism Behavior Checklist and without autism in the Childhood Autism Rating Scale were also considered concordant. RESULTS: There was agreement on most of the responses. Cases in which there was disagreement between results obtained on both protocols corroborate literature data, showing that the instruments may not be sufficient, if applied alone, to define the diagnosis. CONCLUSION: The Childhood Autism Rating Scale may not effectively diagnose autistic children, while the Autism Behavior Checklist may result in over- diagnose, including within the autism spectrum children with other disorders. Therefore, the associated use of both protocols is recommended.

Comparação dos instrumentos Childhood Autism Rating Scale e Autism Behavior Checklist na identificação e caracterização de indivíduos com distúrbios do espectro autístico / Comparing the use of the Childhood Autism Rating Scale and the Autism Behavior Checklist protocols to identify and characterize autistic individuals

OBJETIVO: Comparar as respostas dos instrumentos Childhood Autism Rating Scale e Autism Behavior Checklist na identificação e caracterização de indivíduos com Distúrbios do Espectro Autístico. MÉTODOS: Participaram 28 indivíduos que estavam em atendimento fonoaudiológico e possuíam diagnósticos inseridos no Espectro do Autismo. Todos foram avaliados por meio dos instrumentos Autism Behavior Checklist e Childhood Autism Rating Scale a partir de informações obtidas, respectivamente, com pais e terapeutas. Os dados foram analisados estatisticamente em relação à concordância das respostas obtidas. Foram considerados concordantes os resultados de alta ou moderada probabilidade para autismo no Autism Behavior Checklist e com autismo leve-moderado ou grave na Childhood Autism Rating Scale, e respostas de baixa probabilidade no Autism Behavior Checklist e sem autismo na Childhood Autism Rating Scale. RESULTADOS: Houve concordância na maior parte das respostas obtidas. Casos em que houve discordância entre os resultados obtidos a partir dos protocolos corroboram dados da literatura, evidenciando que os instrumentos podem não ser suficientes, quando aplicados isoladamente para a definição do diagnóstico. CONCLUSÃO: Enquanto a Childhood Autism Rating Scale pode não diagnosticar crianças efetivamente autistas, o Autism Behavior Checklist pode incluir como autistas, crianças com outros distúrbios. Portanto, recomenda-se o uso complementar dos dois instrumentos.

PURPOSE: To compare the results obtained in the Autism Behavior Checklist with those obtained in the Childhood Autism Rating Scale to identify and characterize children with Autism Spectrum Disorders. METHODS: Participants were 28 children with psychiatric diagnosis within the autism spectrum that were enrolled in language therapy in a specialized service. These children were assessed according to the Autism Behavior Checklist and Childhood Autism Rating Scale criteria, based on information obtained with parents and therapists, respectively. Data were statistically analyzed regarding the agreement between responses. Results indicating high or moderate probability of autism in the Autism Behavior Checklist were considered concordant with the results indicating mild-to-moderate or severe autism in the Childhood Autism Rating Scale. Results indicating low probability of autism in the Autism Behavior Checklist and without autism in the Childhood Autism Rating Scale were also considered concordant. RESULTS: There was agreement on most of the responses. Cases in which there was disagreement between results obtained on both protocols corroborate literature data, showing that the instruments may not be sufficient, if applied alone, to define the diagnosis. CONCLUSION: The Childhood Autism Rating Scale may not effectively diagnose autistic children, while the Autism Behavior Checklist may result in over- diagnose, including within the autism spectrum children with other disorders. Therefore, the associated use of both protocols is recommended.

Autism or autisms? Finding the lowest common denominator.

Previous studies suggest the presence of a minicolumnopathy in autism. Minicolumnar abnormalities as well as certain migratory and proliferative defects, common to autism, may be rooted in the general mechanics of periventricular germinal cell division and maturation. Increased numbers of periventricular germinal cell/radial glia can be mimicked by a variety of different transgenic mouse models and environmental factors. These murine models and environmental factors illustrate how a fairly homogenous neuroanatomical phenotype can diverge at the genetic level. By first defining the lowest common denominator (i.e., the minicolumn) and then examining which pathways are vulnerable to involved genetic and environmental factors, we may gain a greater understanding of the pathophysiologic mechanisms underlying Autism Spectrum Conditions.

[Two main mistakes in classificatory and clinical function of DSM-IV, in the case of differential diagnosis between Asperger and autistic disorder]. / Dos errores basales en la función clasificatoria y clínica del DSM-IV respecto del diagnóstico diferencial entre Trastorno Autista y Trastorno de Asperger.

Symptomatic description of what the DSM-IV understands for Asperger's and Autistic Disorder was analyzed. As a result of this revision there was found that a great amount of diagnostic criteria overlap, and lead to the impossibility to make a clear differential diagnosis. The classifying function is, thus, criticized. The clinical function of this diagnostic distinction is analyzed through a clinical case. It is shown it's lack of utility when a therapeutic method should be implemented in a case of Autistic Disorder. It is concluded that the statistical value of the results obtained by using this classificatory instrument should be examined due to this lack of distinction. Also, according to the therapeutic approach witch the author makes reference, it is shown that the diagnostic of any both disorders does not modify the general intervention strategy.

Deficiência, autismo e neurodiversidade / Disability, autism and neurodiversity

O artigo analisa o surgimento recente do movimento de neurodiversidade, situando-o no contexto dos estudos sobre a deficiência e da organização política de deficientes físicos. O movimento da neurodiversidade é organizado por autistas chamados de alto funcionamento que consideram que o autismo não é uma doença a ser tratada e se for possível curada. Trata-se antes de uma diferença humana que deve ser respeitada como outras diferenças (sexuais, raciais, entre outras). Os ativistas do movimento de neurodiversidade se opõem aos grupos de pais de filhos autistas e profissionais que buscam uma cura para a doença. No texto, são apresentados os argumentos dos grupos pró-cura e anticura, avaliando as duas posições e seu impacto na área da saúde e no desenvolvimento de políticas públicas para autistas.

This article analyzes the emergence of the neurodiversity movement in the context of studies about disabilities and the political organization of disabled people. The neurodiversity movement is organized by the so-called high functioning autists, who believe that autism is not a disease to be treated and, if possible, cured. It is instead a human difference that has to be respected just like other differences (sexual, racial, among others). The activists of the neurodiversity movement oppose the groups of parents of autistic children and professionals seeking for a cure for autism. This article presents the arguments of the pro- and anti-cure groups and analyzes both positions as well as their impact upon the field of health and the development of public policies for autists.

[Disability, autism and neurodiversity]. / Deficiência, autismo e neurodiversidade.

This article analyzes the emergence of the neurodiversity movement in the context of studies about disabilities and the political organization of disabled people. The neurodiversity movement is organized by the so-called high functioning autists, who believe that autism is not a disease to be treated and, if possible, cured. It is instead a human difference that has to be respected just like other differences (sexual, racial, among others). The activists of the neurodiversity movement oppose the groups of parents of autistic children and professionals seeking for a cure for autism. This article presents the arguments of the pro- and anti-cure groups and analyzes both positions as well as their impact upon the field of health and the development of public policies for autists.

[Non-autistic pervasive developmental disorders: Rett syndrome, disintegrative disorder and pervasive developmental disorder not otherwise specified]. / Transtornos invasivos do desenvolvimento não-autísticos: síndrome de Rett, transtorno desintegrativo da infância e transtornos invasivos do desenvolvimento sem outra especificação.

The category "Pervasive Developmental Disorders" includes autistic disorder, Asperger's syndrome, Rett's syndrome, childhood disintegrative disorder, and a residual category, named pervasive developmental disorder not otherwise specified. In this review, Rett's syndrome and childhood disintegrative disorder, which are well-defined categories, will be discussed, as well as the not well defined categories that have been included in the Pervasive Developmental Disorder Not Otherwise Specified group. Different proposals of categorization have been created, some of which based on descriptive phenomenological approach, and others based upon other theoretical perspectives, such as neuropsychology. Current proposals are presented and discussed, followed by critical appraisals on the clinical advantages and disadvantages of these concepts.

Transtornos invasivos do desenvolvimento não-autísticos: síndrome de Rett, transtorno desintegrativo da infância e transtornos invasivos do desenvolvimento sem outra especificação / Non-autistic pervasive developmental disorders: Rett syndrome, disintegrative disorder and pervasive developmental disorder not otherwise specified

A categoria "transtorno invasivos do desenvolvimento" inclui o autismo, a síndrome de Asperger, a síndrome de Rett, o transtorno desintegrativo da infância e uma categoria residual denominada transtornos invasivos do desenvolvimento sem outra especificação. Nesta revisão, a síndrome de Rett e o transtorno desintegrativo da infância, que são categorias bem definidas, serão discutidas, assim como as categorias não tão bem definidas que foram incluídas no grupo transtornos invasivos do desenvolvimento sem outra especificação. Diferentes propostas de categorização têm sido feitas, algumas baseadas em abordagem fenomenológica descritiva, outras baseadas em outras perspectivas teóricas, tais como a neuropsicologia. As propostas atuais são apresentadas e discutidas, seguidas por avaliações críticas sobre as vantagens e desvantagens desses conceitos.

Autismo, deficiência intelectual e distúrbios relacionados: para uma compreensão mútua / Autism, intellectual handicap and related disorders: for a mutual comprehension, personal, environment and community

O 12o. Congresso da IASSID se realizou em Montpellier, França. As síndromes de autismo ocuparam lugar de destaque, tendo sido abordado temas referentes a etiologia, genética, epidemiologia, diagnóstico diferencial e classificações, bem como intervenção precoce e longevidade (AU)

Autismo, deficiência intelectual e distúrbios relacionados: para uma compreensão mútua / Autism, intellectual handicap and related disorders: for a mutual comprehension, personal, environment and community

O 12o. Congresso da IASSID se realizou em Montpellier, França. As síndromes de autismo ocuparam lugar de destaque, tendo sido abordado temas referentes a etiologia, genética, epidemiologia, diagnóstico diferencial e classificações, bem como intervenção precoce e longevidade

[Clinical heterogeneity of the autistic syndrome: a study of 60 families]. / Heterogeneidad clínica del síndrome autista: un estudio en sesenta familias.

Sixty families ascertained through a single proband, has helped to better define infantile autism as a heterogeneous group of disorders. Forty four patients showed a characteristic facio- auricular dysplasia. Twenty four of these, showed increased pyruvate and lactate and laboratory findings of metabolic acidosis i.e., anion gap above 18 mEq/L or serum bicarbonate below 21 mEq/L but only nine of these probands demonstrated reduction of plasma bicarbonate below 18 mEq/lt. Plasma amino acids in 17 probands and matched controls showed increased taurine with the rest of amino acids significantly (p less than 0.05) below the control level. Glutamate and aspartate were also significantly elevated (p less than 0.05; Student t-test). Segregation analysis in thirty four of these families which linked through at least one ancestral family name, suggested autosomal recessive inheritance (p = 0.20). Three out of eight probands who received megadoses of pyridoxine (Vitamin B6), subjectively gained in language abilities, affectivity and response to behavior modification therapy. Five autistic patients proved to have clinically defined syndromes: two with the Martin-Bell syndrome, and three girls affected respectively with the Rett syndrome, phenylketonuria and dicarboxylic aciduria.