A relação entre regressão da linguagem e desenvolvimento sociocomunicativo de crianças com transtorno do espectro do autismo / The relation between language regression and social communicative development of children with autism spectrum disorder

OBJETIVO: Investigar a relação entre a ocorrência de regressão da linguagem e o desenvolvimento sociocomunicativo posterior de crianças pré-escolares com Transtorno do Espectro do Autismo (TEA). MÉTODOS: Participaram do estudo 30 crianças com TEA, divididas em dois grupos: com (n=6) e sem regressão da linguagem (n=24). A regressão da linguagem foi avaliada com base na Autism Diagnostic Interview-Revised e o desenvolvimento sociocomunicativo a partir do Autism Diagnostic Observation Schedule. RESULTADOS: Das 30 crianças que preencheram os critérios para participação neste estudo, seis (20%) apresentaram regressão das habilidades de linguagem oral, com uma média de idade de 25 meses no início da perda. No que se refere ao desenvolvimento sociocomunicativo, não foram observadas diferenças estatisticamente significativas, entre os grupos com e sem regressão da linguagem. CONCLUSÃO: Os resultados desta pesquisa parecem não confirmar a relação entre a ocorrência de regressão da linguagem e o comprometimento posterior do desenvolvimento sociocomunicativo de crianças com TEA.

PURPOSE: To investigate the relationship between language regression and the subsequent social-communicative development of preschool children with Autism Spectrum Disorder (ASD). METHODS: Thirty children with ASD participated in the study and were divided into two groups: with (n= 6) and without (n= 24) language regression. Language regression was assessed by the Autism Diagnostic Interview-Revised and the social-communicative development was measured by the Autism Diagnostic Observation Schedule. RESULTS: Of the 30 children who met the criteria for participation in this study, six (20%) had regression of oral language skills, with a mean age of onset of 25 months. There were no statistical significant differences in the social-communicative development between the groups with and without language regression. CONCLUSION: The findings of this research do not seem to confirm the relationship between the occurrence of language regression and the subsequent impairment on social-communicative development of children with ASD.

Evidencia de asociación entre el gen SLC6A4 y efectos epistáticos con variantes en HTR2A en la etiología del autismo en la población antioqueña / Evidence for association and epistasis between the genetic markers SLC6A4 and HTR2A in autism etiology

Introducción. El espectro autista constituye un grupo de trastornos graves del neurodesarrollo, con un fuerte componente genético. Se ha sugerido un papel importante del sistema serotoninérgico en el desarrollo de este grupo de trastornos, con base en los estudios de respuesta a medicamentos y la hiperserotoninemia, característica común en el autismo. Se han implicado múltiples moléculas en el metabolismo y la neurotransmisión de la serotonina; sin embargo, los resultados de los estudios han tenido poca congruencia entre diferentes poblaciones. Objetivos. Evaluar la relación entre el autismo y el polimorfismo de nucleótido simple (Single Nucleotide Polymorphism, SNP) en los genes SLC6A4, HTR2A e ITGB3, en una muestra de la población antioqueña. Materiales y métodos. Se genotipificaron 42 núcleos familiares con autismo para 10 variantes en los genes SLC6A4, ITGB3 y HTR2A. Se evaluó la asociación utilizando la prueba de desequilibrio en la transmisión. Se exploró el impacto de la interacción entre estos genes y el autismo, utilizando la reducción multidimensional. Resultados. Se encontró asociación de las variantes rs4583306 (OR=2,6, p=0,004) y rs2066713 (OR=2,2 p=0,03), en el gen SLC6A4, y asociación de combinaciones genotípicas entre los genes SLC6A4 y HTR2A y el riesgo de autismo (p=0,0001). Conclusiones. Se encontró asociación significativa con variantes en el gen transportador de serotonina con el autismo, al igual que interacción entre variantes en los genes HTR2A con SLC6A4. Estos resultados concuerdan con los de estudios previos en otras poblaciones y son pruebas a favor del papel del sistema serotoninérgico en la etiología del espectro autista.

Introduction. Autism spectrum disorders are severe neurodevelopmental disorders with a strong genetic component. The potential role of the serotoninergic system in the development of autistic disorder has been based on the observation of hyperserotoninemia in autistic subjects and the results of drug treatment studies. Multiple molecules involved in serotonin metabolism and neurotransmission have been studied; however, replication studies have been inconsistent. This may be partially related to the marked genetic heterogeneity of autism in different populations. Objectives. The relationship between autism and single nucleotide polymorphisms of SLC6A4, HTR2A and ITGB3 genes was evaluated in an urban population of northwestern Colombia. Materials and methods. In Antioquia, Colombia, 42 families with history of autism were screened for 10 SNPs in SLC6A4, HTR2A and ITGB3 genes and evaluated for associations with the transmission disequilibrium test. The interactions among these genes and autism was assessed with multidimensional reduction methods. Results. A significant main effect was seen among the SLC6A4 gene variants rs4583306 (OR=2.6, p=0.004) and rs2066713 (OR=2.2, p=0.03). No main effect of the ITGB3 or HTR2A variants was found, however, in the interaction effects, the SLC6A4 and HTR2A genes demonstrated significant evidence of association with autism (p<0.001). Conclusion. Significant association of markers were discovered within the SLC6A4 gene and the combination of SLC6A4 and HTR2A (S-A) genes to autism. These results were consistent with previous studies conducted in other populations and provide further evidence for the implication of the serotoninergic system in the etiology of autistic disorders.

Autism spectrum disorder and celiac disease: no evidence for a link / Transtorno autístico e doença celíaca: sem evidências de associação

OBJECTIVE: To evaluate the possible association between celiac disease (CD) and/or gluten sensitivity (GS) and autism spectrum disorder (ASD). METHODS: Occurrences of CD were determined in a group of children and adolescents affected by ASD and, conversely, occurrences of ASD were assessed in a group of biopsy-proven celiac patients. To detect the possible existence of GS, the levels of antigliadin antibodies in ASD patients were assessed and compared with the levels in a group of non-celiac children. RESULTS: The prevalence of CD or GS in ASD patients was not greater than in groups originating from the same geographical area. Similarly the prevalence of ASD was not greater than in a group of biopsy-proven CD patients. CONCLUSION: No statistically demonstrable association was found between CD or GS and ASD. Consequently, routine screening for CD or GS in all patients with ASD is, at this moment, neither justified nor cost-effective.

OBJETIVO: Avaliar a possível associação entre doença celíaca (DC) e/ou sensibilidade ao glúten (SG) e transtorno do espectro autista (TEA). MÉTODOS: Ocorrências de DC foram determinadas em um grupo de crianças e adolescentes afetados pelo TEA e a ocorrência d TEA foi avaliada em um grupo de pacientes com DC comprovada por biópsia. Para detectar a possível existência de SG, foram determinados níveis de anticorpos antigliadina em pacientes com TEA e comparados ao grupo de crianças sem a doença celíaca. RESULTADOS: A prevalência de DC ou SG não foi maior no grupo de pacientes com TEA quando comparada a grupos de indivíduos originários da mesma região geográfica. De modo similar, a prevalência do TEA não foi maior ao ser comparada ao grupo de pacientes com DC. CONCLUSÃO: Não houve associação estatisticamente demonstrável entre DC ou SG e TEA. Consequentemente, não são justificáveis, no momento, exames de rotina para detecção de DC ou SG em pacientes com TEA.

Autism and parents' education. New data from the developing world

To investigate the link between autism disorders and engineering training of parents. All Autistic-Pervasive Developmental Disorders [PDD] children that were diagnosed on the bases of the Diagnostic and Statistical Manual for Mental Disorders [DSM-IV], and met the required criteria for autism, over a defined period [March 2006 to June 2007] were included. We then took all non-PDD developmental disorders cases seen during the same time frame as the autistic children as a control; these included speech delay, mental retardation, and down's syndrome. Out data covered demographic data, parents and grandparents' education, and profession. Parents' education/professions were classified into 2 groups only, 1- engineering or mathematician; and 2-humanities, neither engineering nor math. The children were divided into 2 groups, autism [57 cases], and developmental disorders [40 cases]. Regarding the main question of this study [hypothesized engineering link], the data showed some differences between the 2 groups [x[2]=2.503, degrees of freedom[df]=1; p=0.093], but not of major significance. There was no significant difference [x[2]0.370; df=2; p=0.831] between the 2 groups on the variable of consanguinity. We have found that the Saudi Arabian sample, though relatively small, has considerable similarities with both the UK and USA data. There is a possibility of an association between autism and the engineering/math training of fathers. The implication is briefly discussed

Genetic studies in children with intellectual disability and autistic spectrum of disorders.

Autism is one of the five disorders that falls under the umbrella of Pervasive Developmental Disorders (PDD) or Autism Spectrum Disorder (ASD), a category of neurological disorders characterized by “severe and pervasive impairment in several areas of development.” ASD is characterized by varying degrees of impairment in communication skills, social interaction and restricted, repetitive stereotyped patterns of behavior. The five disorders under PDD are autistic disorder, Asperger's disorder, childhood disintegrative disorder, Rett's disorder and PDD-not otherwise specified. ASD can often be reliably detected by the age of 3 years and, in some cases, as early as 18 months. The appearance of any warning signs of ASD is reason to have the child evaluated by a professional specializing in these disorders.

Aspectos explicativos de comorbilidad en los TGD, el síndrome de Asperger y el TDAH: estado de la cuestión / Explanatory aspects of comorbidity in PDD, Asperger syndrome and ADHD: the current state

El presente artículo revisa la evidencia científica reciente sobre los aspectos comórbidos de los Trastornos Generalizados del Desarrollo (TGD), especialmente los tipos de alto funcionamiento, y el Trastorno por Déficit de Atención con Hiperactividad (TDAH). Se comentan varios estudios desde diferentes perspectivas (epidemiología, investigación neurocognitiva y genética). Finalmente, las áreas investigadas coinciden en la necesidad de reformular los criterios diagnósticos del DSM-IV y la CIE-10 en futuras clasificaciones de los TGD.

The present article reviews the recent scientific evidence about the comorbid aspects of Pervasive Developmental Disorders (PDD), especially high-functioning types, and Attention-Deficit Hyperactivity Disorder (ADHD). Several studies from different perspectives (epidemiology, neurocognitive research and genetics) are discussed. Finally, the investigated areas coincide with the need to reformulate the DSM-IV and the ICD-10 diagnostic criteria in future classifications of PDD.

Trend study of autistic spectrum disorders at Queen Sirikit National Institute of Child Health.

BACKGROUND: Increases in the incidence and prevalence of autistic spectrum disorders have been reported recently in the United States and Europe, but there are only a few reports on the trend of this problem in Thailand. OBJECTIVES: To study trend in autistic spectrum disorder patients and to find the factors that correlate with the incidence of this disorder at Queen Sirikit National Institute of Child Health. MATERIAL AND METHOD: A hospital-based prospective trend study was conducted in patients aged less than 12 years old, who attended the Child and Adolescent Department, Queen Sirikit National Institute of Child Health, Bangkok, form January 1998 to December 2002. Autistic spectrum disorders were defined as autistic disorder pervasive developmental disorder-not otherwise specified (PDD-NOS), and Asperger's disorder Related factors were recorded and analyzed Aged-adjusted incidence rate in both sexes and proportion rates of related factors were calculated by using the direct method Standard t-test and correlation coefficient were performed to test for statistically significant difference in the prevalence rate in each group. RESULTS: There were 610 new patients aged less than 12 years who displayed behavior consistent with autistic spectrum disorders. The increasing trend in the incidence of autistic spectrum disorder is observed (r = 0. 935, p = 0. 02). The incidence rate of autistic spectrum disorders among out patients less than 12 years has increased from 1.43 per 10, 000 in 1998 to 6.94 per 10, 000 in 2002. The correlation factors "an only one child in the family" is observed (r = 0.9, p = 0.038). CONCLUSION: During the 5 years of the study, a significant increase in the incidence of autistic spectrum disorders was observed at Queen Sirikit National Institute of Child Health. Increase in the incidence of ASD in this center cannot explain by any solid evidence from the present study.

Analysis of psychiatric morbidity of outpatient children in Mitford Hospital, Dhaka.

The objective of this study was to describe the pattern of psychiatric morbidity among 97 child patients who, for the first time attended the psychiatric outpatient department of Sir Salimullah Medical College & Mitford Hospital, Dhaka, in the year 1994. Dissociative disorder (Hysteria) comprised the largest group (21.65%), followed by epilepsy (19.59%). Majority of the cases were within 7-10 years age group with mean age 9.74 (+/- 2.39) years. Male outnumbered female patients and 53.61% cases came from rural background. The findings of the study indicate the need for establishment of child psychiatric treatment centres in different parts of the country including rural areas.

Os recursos públicos destinados à assistência aos portadores de transtornos invasivos do desenvolvimento, em Belo Horizonte / The public resource for assistance the pervasive developmental disorders patients, in Belo Horizonte

O autor apresenta dados estatísticos sobre a falta do tratamento adequado para os portadores de Transtornos Invasivos do Desenvolvimento, em Belo Horizonte, Minas Gerais. Dos pacientes agendados num hospital público, havia 44 pacientes deste grupo nosológico e somente 14 tinham tratamento multi-profissional, mesmo que por período menor que quatro horas semanais. Discute-se a atual situaçäo: ausência de tratamento adequado para estas pessoas e a impossibilidade de aquisiçäo de habilidades após a adolescência.