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The members of the superfamily of Transient Receptor Potential (TRP) ion channels are physiologically important molecules that have been studied for many years and are still being intensively researched. Among the vanilloid TRP subfamily, the TRPV4 ion channel is an interesting protein due to its involvement in several essential physiological processes and in the development of various diseases. As in other proteins, changes in its function that lead to the development of pathological states, have been closely associated with modification of its regulation by different molecules, but also by the appearance of mutations which affect the structure and gating of the channel. In the last few years, some structures for the TRPV4 channel have been solved. Due to the importance of this protein in physiology, here we discuss the recent progress in determining the structure of the TRPV4 channel, which has been achieved in three species of animals (Xenopus tropicalis, Mus musculus, and Homo sapiens), highlighting conserved features as well as key differences among them and emphasizing the binding sites for some ligands that play crucial roles in its regulation.

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This work aims to model and characterize the radiation beam of one Accuray tomotherapy equipment using the Monte Carlo Code MCNP5 (Monte Carlo N-Particle). This tomotherapy equipment is used for delivering high doses of radiation in tumor regions to kill cancer cells and shrink the tumor during radiation therapy of cancer patients, however, the radiation can damage surrounding areas and nearby organs at risk (OAR) if the radiation field is not well delimited. In particular, intensity-modulated radiotherapy treatments (IMRT) with tomotherapy equipment offer great benefits to patients allowing treatment of tumor regions without affecting surrounding areas and OAR. Nowadays, it is well known that a correct simulation of transport of radiation in tomotherapy equipment facilitates considerably the estimation of ideal doses in the tumor, surrounding regions, and OAR. For that reason, in this work, we simulated the geometry of the 6 MV ACCURAY Tomotherapy equipment of the CECAN using the MCNP5. The model includes a TomoLINAC consisting of an electron source that emits Gaussian distribution particles with an average energy of 5.7 MeV and width of 0.3 MeV. The emitted particles impact the tungsten target and pass through primary collimators and jaws that define the irradiation field in the isocenter. To validate the geometry and radiation transport in the TomoLINAC the curves of depth dose percentage (PDD) estimated by simulation and the curves measured experimentally were tuned. In the same way, the simulated transverse and longitudinal profiles were compared with the experimental results. In addition, a comparison between the qualities of the radiation beam characterized with MCNP and measured experimentally in CECAN showed a deviation of 1%. For the simulations, cylindrical detectors located inside a water phantom were considered and it was employed the tally *F8. A good agreement was observed between the PDD's curves obtained from the simulation and those measured experimentally for a field of 5 × 10 cm2 in the isocenter and SSD (distance from the source to the surface) of 85 cm. Also, the comparison between the simulated and experimental transverse profiles obtained at 1.5 cm, 10 cm and 15 cm depth with a radiation field of 5 × 40 cm2 showed very good agreement. The longitudinal profiles were estimated with the same depths as the transverse ones, but for each of them, the openings of the jaws were 5.0 cm, 2.5 cm and 1.0 cm in the longitudinal direction, which corresponds to the direction in which the patient's table moves. The comparison between the simulated and experimental longitudinal profiles showed good concordance too. Once the radiation beam of the ACCURAY tomotherapy equipment had been characterized, experimental dose measurements were made using a Cheese phantom and two A1SL ionization chambers. These results obtained experimentally were compared with those estimated with MCNP for a field of 5 × 40 cm2 at the isocenter and SAD of 85 cm and, it was concluded that both results were similar considering the regions of uncertainty. Finally, we must highlight that the modeling and characterization of the radiation beam of CECAN's ACCURAY tomotherapy equipment can be a key tool for dose estimations in different cancer treatment plans and future research.

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Proventricular dilatation disease (PDD) is a life-threatening neurological disease caused by parrot bornaviruses (PaBVs) that affects several species worldwide. PDD can be clinically manifested as either a central nervous system condition or a gastrointestinal condition if the nerves and ganglia of the gastrointestinal tract are compromised. We intend to provide a concise review for veterinary clinicians and diagnosticians with focus on the main tools available for PDD diagnosis, including gross and histopathology, immunohistochemistry, molecular techniques and serology. We suggest that a combination of different strategies can increase the success of diagnostic outcomes, as tools such as reverse transcription polymerase chain reaction (RT-PCR) and enzyme-linked immunosorbent assay (ELISA) can be implemented for identification of bornaviral infections in live patients, and gross pathology, histopathology, immunohistochemistry and RT-PCR can provide reliable results for postmortem diagnosis of PDD.

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Abstract Introduction Research about stigma on mental illness in different sociocultural contexts is crucial to guide international efforts to reduce discrimination. Objective Analyze the psychometric properties of the Perceived Devaluation and Discrimination (PDD) scale adapted for the Mexican population and its relationship with sociodemographic variables and interpersonal contact. Method The study was based on a psychometric and cross-sectional design. The PDD scale was applied to a sample of 295 participants recruited through community programs in the south of Mexico City. Data were analyzed using confirmatory factor analysis to identify the subscales of PDDs. These subscales were compared by age, gender, and education using a univariate analysis. One-way analysis of variance (ANOVA) was then performed to determine whether there were differences in educational level between three PDDM-subscales. Results The PDD scale obtained an adequate global internal consistency (α = .78). Three PDDs factors were identified: myths and stereotypes, favorable attitudes, and social exclusion, which explain 57.8% of the total variance. The results shows an Χ2SB = 140.88 (df = 143, p = .05, CFI = 1, RMSEA = .000, CI [.000, .029]). Other findings showed significant differences in favorable attitudes toward mental illness subscale by gender and age. The ANOVA results for the social perception of the devaluation subscale reveal that those with a higher educational level could be more aware about devaluation in society toward people with mental illness than other groups with lower education (F = 4.88, p = .005). Discussion and conclusion The PDD-M scale adapted in Mexico is a culturally valid and reliable measure that could be useful for evaluating the variations and commonalities of public stigma in comparative studies between Latino populations and other international research contexts.

Resumen Introducción La investigación acerca del estigma de la enfermedad mental en distintos contextos sociales es fundamental para combatir la discriminación. Objetivo Analizar las propiedades psicométricas de la Escala de Percepción de la Devaluación y la Discriminación hacia las enfermedades mentales adaptada en México (PDD) y su relación con variables sociodemográficas y el contacto interpersonal. Método Se utilizó un diseño transversal ex post facto. Se aplicó la escala PDD-M en población adulta (n = 295) de la Ciudad de México. Los datos se analizaron mediante un análisis factorial confirmatorio y análisis multivariados. Resultados Se identifican tres áreas del PDD-M: mitos y estereotipos, actitudes favorables y percepción social de la devaluación y discriminación, que explican el 57.8% de la varianza. Se obtuvo un buen ajuste del modelo Χ2SB = 140.88 (df = 143, p = .05, CFI = 1, RMSEA = .000, CI [.000, .029]). La consistencia interna global de la prueba (α = .78) fue adecuada. Los resultados muestran diferencias significativas por género, edad y escolaridad. El análisis multivariado reveló que quienes tenían mayor nivel educativo eran más conscientes de la devaluación y la discriminación que quienes tenían escolaridades más bajas (F = 4.88, p = .005). Discusión y conclusión Se obtuvo una medición culturalmente válida y confiable del estigma público de la enfermedad mental (PDD-M) que puede servir para impulsar la investigación en esta línea a través de estudios comparativos en América Latina y en otros contextos internacionales.

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OBJECTIVE: To assess the relationship of moderate and late preterm birth (320/7-366/7 weeks) to long-term educational outcomes. STUDY DESIGN: We hypothesized that moderate and late preterm birth would be associated with adverse outcomes in elementary school. To test this, we linked vital statistics patient discharge data from the Office of Statewide Health Planning and Development including birth outcomes, to the 2015-2016 school year administrative data of a large, urban school district (n = 72 316). We compared the relative risk of moderate and late preterm and term infants for later adverse neurocognitive and behavioral outcomes in kindergarten through the 12th grade. RESULTS: After adjusting for socioeconomic status, compared with term birth, moderate and late preterm birth was associated with an increased risk of low performance in mathematics and English language arts, chronic absenteeism, and suspension. These risks emerged in kindergarten through grade 2 and remained in grades 3-5, but seemed to wash out in later grades, with the exception of suspension, which remained through grades 9-12. CONCLUSIONS: Confirming our hypothesis, moderate and late preterm birth was associated with adverse educational outcomes in late elementary school, indicating that it is a significant risk factor that school districts could leverage when targeting early intervention. Future studies will need to test these relations in geographically and socioeconomically diverse school districts, include a wider variety of outcomes, and consider how early interventions moderate associations between birth outcomes and educational outcomes.

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The Movement Disorder Society has published some recommendations for dementia diagnosis in Parkinson disease (PD), proposing the Montreal Cognitive Assessment (MOCA) as a cognitive screening tool in these patients. However, few studies have been conducted assessing the Portuguese version of this test in Brazil (MOCA-BR). OBJECTIVE: the aim of the present study was to define the cut-off points of the MOCA-BR scale for diagnosing Mild Cognitive Impairment (PD-MCI) and Dementia (PD-D) in patients with PD. METHODS: this was a cross-sectional, analytic field study based on a quantitative approach. Patients were selected after a consecutive assessment by a neurologist, after an extensive cognitive evaluation, and were classified as having normal cognition (PD-N), PD-MCI or PD-D. The MOCA-BR was then applied and 89 patients selected. RESULTS: on the cognitive assessment, 30.3% were PD-N, 41.6% PD-MCI and 28.1% PD-D. The cut-off score on the MOCA-Br to distinguish PD-N from PD-D was 22.50 (95% CI 0.748-0.943) for sensitivity of 85.5% and specificity of 71.1%. The cut-off for distinguishing PD-D from MCI was 17.50 (95% CI 0.758-0.951) for sensitivity of 81.6% and specificity of 76%.

A Movement Disorder Society publicou algumas recomendações para o diagnóstico de demência na doença de Parkinson (DP), propondo o Montreal Cognitive Assessment (MOCA) como ferramenta de triagem cognitiva nesses pacientes. Entretanto, poucos estudos foram aplicados à versão em português (MOCA-BR). OBJETIVO: o presente estudo tem o objetivo de definir os valores de corte na escala de MOCA-BR para diagnosticar o Comprometimento Cognitivo Leve (DP-CCL) e Demência (DP-D) em pacientes com DP. MÉTODOS: trata-se de um estudo transversal, analítico, com uma abordagem quantitativa. Os pacientes foram selecionados depois de avaliações consecutivas por um neurologista, após avaliação cognitiva extensa, e foram classificados como cognição normal (DP-N), DP-CCL e DP-D e então o MOCA-BR foi aplicado, sendo selecionados 89 pacientes. RESULTADOS: na avaliação cognitiva, foram encontrados 30.3% de DP-N, 41.6% de DP-CCL e 28.1% DP-D. O valor de corte no MOCA-BR para distinguir entre DP-N de DP-D foi 22.5 (IC 95%; 0.748-0.943), sensibilidade de 85.5% e especificidade de 71.1%. Para distinguir DP-P de CCL, o ponto de corte foi de 17.5 (IC 95%; 0.758-0.951), sensibilidade de 81.6% e especificidade de 76%.

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ABSTRACT. The Movement Disorder Society has published some recommendations for dementia diagnosis in Parkinson disease (PD), proposing the Montreal Cognitive Assessment (MOCA) as a cognitive screening tool in these patients. However, few studies have been conducted assessing the Portuguese version of this test in Brazil (MOCA-BR). Objective: the aim of the present study was to define the cut-off points of the MOCA-BR scale for diagnosing Mild Cognitive Impairment (PD-MCI) and Dementia (PD-D) in patients with PD. Methods: this was a cross-sectional, analytic field study based on a quantitative approach. Patients were selected after a consecutive assessment by a neurologist, after an extensive cognitive evaluation, and were classified as having normal cognition (PD-N), PD-MCI or PD-D. The MOCA-BR was then applied and 89 patients selected. Results: on the cognitive assessment, 30.3% were PD-N, 41.6% PD-MCI and 28.1% PD-D. The cut-off score on the MOCA-Br to distinguish PD-N from PD-D was 22.50 (95% CI 0.748-0.943) for sensitivity of 85.5% and specificity of 71.1%. The cut-off for distinguishing PD-D from MCI was 17.50 (95% CI 0.758-0.951) for sensitivity of 81.6% and specificity of 76%.

RESUMO. A Movement Disorder Society publicou algumas recomendações para o diagnóstico de demência na doença de Parkinson (DP), propondo o Montreal Cognitive Assessment (MOCA) como ferramenta de triagem cognitiva nesses pacientes. Entretanto, poucos estudos foram aplicados à versão em português (MOCA-BR). Objetivo: o presente estudo tem o objetivo de definir os valores de corte na escala de MOCA-BR para diagnosticar o Comprometimento Cognitivo Leve (DP-CCL) e Demência (DP-D) em pacientes com DP. Métodos: trata-se de um estudo transversal, analítico, com uma abordagem quantitativa. Os pacientes foram selecionados depois de avaliações consecutivas por um neurologista, após avaliação cognitiva extensa, e foram classificados como cognição normal (DP-N), DP-CCL e DP-D e então o MOCA-BR foi aplicado, sendo selecionados 89 pacientes. Resultados: na avaliação cognitiva, foram encontrados 30.3% de DP-N, 41.6% de DP-CCL e 28.1% DP-D. O valor de corte no MOCA-BR para distinguir entre DP-N de DP-D foi 22.5 (IC 95%; 0.748-0.943), sensibilidade de 85.5% e especificidade de 71.1%. Para distinguir DP-P de CCL, o ponto de corte foi de 17.5 (IC 95%; 0.758-0.951), sensibilidade de 81.6% e especificidade de 76%.

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The screening of potential therapeutic compounds using phenotypic drug discovery (PDD) is being embraced once again by researchers and pharmaceutical companies as an approach to enhance the development of new effective therapeutics. Before the genomics and molecular biology era and the consecutive emergence of targeted-drug discovery approaches, PDD was the most common platform used for drug discovery. PDD, also known as phenotypic screening, consists of screening potential compounds in either in vitro cellular or in vivo animal models to identify compounds resulting in a desirable phenotypic change. Using this approach, the biological targets of the compounds are not taken into consideration. Suitable animal models are crucial for the continued validation and discovery of new drugs, as compounds displaying promising results in phenotypic in vitro cell-based and in vivo small animal model screenings often fail in clinical trials. Indeed, this is mainly a result of differential anatomy, physiology, metabolism, immunology, and genetics between humans and currently used pre-clinical small animal models. In contrast, pigs are more predictive of therapeutic treatment outcomes in humans than rodents. In addition, pigs provide an ideal platform to study cancer due to their similarities with humans at the anatomical, physiological, metabolic, and genetic levels. Here we provide a mini-review on the reemergence of PDD in drug development, highlighting the potential of porcine cancer models for improving pre-clinical drug discovery and testing. We also present precision medicine based genetically defined swine cancer models developed to date and their potential as biomedical models.

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Proventricular dilatation disease (PDD) is a lethal and important disease of captive psittacine birds, and affects a wide range of species, including endangered ones, and lacks an effective treatment. This report describes PDD in three blue-and-gold macaws (Ara ararauna) in southern Brazil. All three macaws originated from the same aviary and presented similar clinical signs including anorexia, apathy, emaciation and prostration. At necropsy, one of the macaws presented an enlarged proventriculus. Histologically, lymphoplasmacytic infiltrates was observed in the ganglia and nerves of the esophagus, crop, proventriculus, ventriculus, heart, adrenal glands, and adrenal medulla of all three cases. Two macaws had meningoencephalomyelitis and one had myocarditis. Immunohistochemistry identified PaBV antigen in the brain, proventricular, ventricular ganglia, and epicardial ganglia, and cardiomyocytes of all three macaws.(AU)

A doença da dilatação proventricular (PDD) e uma importante e fatal doença de psitacídeos de cativeiro, que afeta uma grande variedade de espécies e não tem um tratamento efetivo até o momento. Este relato descreve PDD em três araras canindé (Ara ararauna) no sul do Brasil. Todas as três araras eram provenientes do mesmo criatório e apresentaram sinais clínicos semelhantes incluindo anorexia, apatia, emaciação e prostração. Na necropsia, uma das araras apresentou proventrículo dilatado. No exame histopatológico, infiltrados linfoplasmacitários foram observados em gânglios e nervos do esôfago, inglúvio, proventrículo, moela, coração, glândulas adrenais e rins de todos os casos. Adicionalmente, meningoencefalomielite foi observada em duas araras e miocardite em uma. A imuno-histoquímica identificou antígenos de PaBV no encéfalo, coração, proventrículo e moela de todos os casos.(AU)

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Proventricular dilatation disease (PDD) is a lethal and important disease of captive psittacine birds, and affects a wide range of species, including endangered ones, and lacks an effective treatment. This report describes PDD in three blue-and-gold macaws (Ara ararauna) in southern Brazil. All three macaws originated from the same aviary and presented similar clinical signs including anorexia, apathy, emaciation and prostration. At necropsy, one of the macaws presented an enlarged proventriculus. Histologically, lymphoplasmacytic infiltrates was observed in the ganglia and nerves of the esophagus, crop, proventriculus, ventriculus, heart, adrenal glands, and adrenal medulla of all three cases. Two macaws had meningoencephalomyelitis and one had myocarditis. Immunohistochemistry identified PaBV antigen in the brain, proventricular, ventricular ganglia, and epicardial ganglia, and cardiomyocytes of all three macaws.(AU)

A doença da dilatação proventricular (PDD) e uma importante e fatal doença de psitacídeos de cativeiro, que afeta uma grande variedade de espécies e não tem um tratamento efetivo até o momento. Este relato descreve PDD em três araras canindé (Ara ararauna) no sul do Brasil. Todas as três araras eram provenientes do mesmo criatório e apresentaram sinais clínicos semelhantes incluindo anorexia, apatia, emaciação e prostração. Na necropsia, uma das araras apresentou proventrículo dilatado. No exame histopatológico, infiltrados linfoplasmacitários foram observados em gânglios e nervos do esôfago, inglúvio, proventrículo, moela, coração, glândulas adrenais e rins de todos os casos. Adicionalmente, meningoencefalomielite foi observada em duas araras e miocardite em uma. A imuno-histoquímica identificou antígenos de PaBV no encéfalo, coração, proventrículo e moela de todos os casos.(AU)

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OBJECTIVE: To examine the relationship between obstetric risk factors and childhood autism, Asperger syndrome, and other pervasive developmental disorders (PDDs). STUDY DESIGN: Registry-based case-control study from all singleton births in Finland from 1990-2005. Cases with childhood autism, Asperger syndrome, or PDD (n = 4713) were identified from the Finnish Hospital Discharge Register. Each case was matched to 4 controls on sex, date of birth, and place of birth. Information on obstetric risk factors was from the Finnish Medical Birth Register. Conditional logistic regression models were used for statistical analyses. RESULTS: When adjusted with confounders, childhood autism was associated with maternal high blood pressure (OR 1.49, 95% CI 1.1-2.1, P = .018), Apgar scores less than 7 (1 minute, OR 1.46, 95% CI 1.1-2.0, P = .021), and neonatal treatment with monitoring (OR 1.40, 95% CI 1.02-1.9, P = .038). PDD was associated with induced labor (OR 1.25 95% CI 1.1-1.5, P = .007), planned cesarean delivery (OR 1.34, 95% CI 1.1-1.7, P = .009), 1-minute Apgar scores 7-8 ( OR 1.22, 95% CI 1.1-1.4, P = .008) and less than 7 (OR 1.34, 95% CI 1.03-1.8, P = .032), and neonatal intensive care unit treatment (OR 1.52, 95% CI 1.2-2.0, P = .003). Asperger syndrome was associated only with 1-minute Apgar scores 7-8 (OR 1.19, 95% CI 1.03-1.4, P = .018). CONCLUSIONS: Low Apgar scores as well as conditions requiring neonatal special follow-up are important risk factors for childhood autism and PDD. These findings suggest that fetal distress is a potential risk factor for these disorders, but not for Asperger syndrome.

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Introducción. La detección temprana del autismo es una variable determinante de un mejor pronóstico. Métodos. Se realizó un estudio descriptivo y retrospectivo del proceso de detección y diagnóstico de 42 niños con trastornos del espectro autista (TEA) por medio de una entrevista semiestructurada y a través de la revisión de historias clínicas. Resultados. Se encontró que los padres son las personas que inicialmente sospechan la presencia de algún trastorno, alrededor de un año diez meses de edad. Los signos de alarma más frecuentes son los comportamientos ausentes, la falta de lenguaje y el retraso motor. Para la detección y diagnóstico participan, en promedio, cinco profesionales. El neurólogo infantil y el psicólogo fueron quienes más diagnósticos de TEA realizaron, entre los tres y los cinco años de edad. Se recibieron diagnósticos de discapacidad intelectual, trastornos de déficit de atención e hiperactividad y retraso en el desarrollo. Conclusiones. Se resalta la importancia de formar y capacitar profesionales de la salud, para lograr que la detección e intervención de los TEA sea cada vez más oportuna.

Background. Early detection of autism is a decisive variable for a better prognosis. Methods. A study was conducted describing the process of detection and diagnosis of 42 children with autism spectrum disorders [ASD]. Results. Parents are those who initially suspect the presence of a disorder at about the age of 22 months. The most common warning signs include behavior described as appearing absent, lack of language, and motor delays. Five different health care professionals are involved in the detection process. The pediatric neurologist and psychologist are the professionals who most frequently diagnosed ASD between 3 and 5 years of age. Diagnoses given to the families include intellectual disability, attention deficit disorder with hyperactivity, and developmental delay. Conclusions. The results of the study show the importance of training healthcare professionals, leading to the early detection and intervention of ASD.

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Este estudo retrospectivo revisa os achados radiográficos em exames simples e contrastados de 38 aves psittaciformes com alterações no proventrículo. Os dados foram obtidos do Serviço de Diagnóstico por imagem do departamento de cirurgia junto ao Hospital Veterinário da Faculdade de Medicina Veterinária e Zootecnia da Universidade de São Paulo, durante o período de janeiro de 2004 a abril de 2012. A distribuição das alterações, assim como as suas respectivas espécies e idades, foram estudadas. O sexo das aves não foi considerado neste estudo. A espécie Amazona aestiva (papagaio-verdadeiro) alcançou a porcentagem mais elevada (44,8%) entre as diversas ordens, seguidos pelos Nymphicus hollandicus (Calopsita) (28,9%). Neste período de oito anos, os sintomas mais comuns observados na anamnese foram a /"apatia/prostração/" e /"anorexia/prostração/" (52,63% cada). Entre as suspeitas clínicas mais frequentes, a doença da dilatação do proventrículo (PDD) foi a mais citada (26,32%). O achado radiográfico mais frequentemente observado foi a /"dilatação do proventrículo por conteúdo de radiodensidade gás e líquido/" (34,21%). A medição do proventrículo foi um dado descrito em 34,84% dos laudos. Dentre as aves estudadas com alterações radiográficas em proventrículo, o exame radiográfico contrastado por sulfato de bário foi solicitado em 26,32% dos casos, onde o achado radiográfico mais comum foi a /"retenção do meio de contraste ou evolução lenta do mesmo/". Dentre os casos com suspeita clínica de PDD, os únicos nos quais foi possível obter confirmação foram aqueles em que foi solicitado o exame contrastado. Algumas aves também exibiram alterações radiográficas inespecíficas. A dilatação de proventrículo em si não é patognomônica para PDD, visto que esta pode vir de forma atípica e que há diversas outras doenças que causam alterações semelhantes.

This retrospective study examines radiographic findings of plain and contrastenhanced examinations of 38 psittacine birds presenting proventricular abnormalities. The data were obtained by the Image Diagnostic Service of the Veterinary Hospital of the School of Veterinary Medicine and Animal Science of the University of São Paulo between January 2004 and April 2012. The distribution of the abnormalities, as well as the birds species and ages, were also investigated. The birds sex was not taken into account. The highest percentage among the different orders (44.8%) was observed among specimens of Amazona aestiva (Blue-fronted Parrot), followed by Nymphicus hollandicus (Cockatiel) (28.9%). In the eight-year period of the study, the most common symptoms were /"apathy/weakness/" and /"anorexia/weakness/" (52.63% each.) Proventricular Dilatation Disease (PDD) was the most frequent clinical suspicion (26.32%.) The most commonly observed radiographic abnormality was a /"Proventricular dilatation caused by content of gas and water radiodensity/" (34.21%.) The measurements of the proventriculus were described in 34.84% of all reports. Among the birds studied with radiographic alterations in proventriculus, radiographic examination contrasted by barium sulfate was required in 26.32% of cases. The most common findings were /"retention or slow transit of the contrast agent/". The only cases with a clinical suspicion of PDD for which it was possible to obtain a confirmation were those for which a contrast-enhanced examination was ordered. Some birds also presented radiographic abnormalities of uncertain diagnosis. A proventricular dilatation in itself is not pathognomonic of PDD inasmuch as said disease may present in an atypical manner and several other diseases may cause similar abnormalities.

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Los Trastornos Generalizados del Desarrollo (TGD) son perturbaciones graves y generalizadas que afectan áreas centrales del desarrollo (DSM-IV-TR). Se propone que el período perigestacional aglutina una serie de factores de riesgo que influyen y condicionan el desarrollo normal del feto. El objetivo de este artículo fue estudiar la presencia de riesgos durante el desarrollo perinatal, considerando las respuestas de 93 madres con hijos que presentan un Trastorno Generalizado del Desarrollo a un autoinforme estructurado, tal como es el caso del trastorno autista, trastorno de Asperger y TGD-no especificado. Del análisis de las respuestas al autoinforme se han encontrado diferencias significativas entre los grupos de TGD en la dimensión pregestacional -malnutrición/anorexia e hipertensión-, en la perigestacional -malnutrición/anorexia y problemas con el líquido amniótico- y en la psicosocial -género no deseado del bebé-.

Pervasive Developmental Disorders (PDDs) are severe and pervasive disturbances affecting central areas of development (DSM-IV-TR). It is proponed that the perigestational period encompasses a number of risk factors that influence and affect normal fetal development. The aim of this paper was to study the presence of risks during the perinatal development, considering the responses of 93 mothers of children with a pervasive developmental disorder -autistic disorder, Asperger disorder and PDD-NOS- to a structured self-report. We found significant differences among the PDD groups in the pregestational -malnutrition/anorexia and hypertension- , in the perigestational - malnutrition/anorexia and problems with the amniotic fluid-, and in the psychosocial -unwanted gender baby- dimensions from the analysis of the responses.

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El estudio explora procesos de escolarización y desafíos para la construcción de escenarios educativos con alumnos diagnosticados con TEA (Trastornos del Espectro Autista) o con TGD (Trastornos Generalizados del Desarrollo). Se analizan prácticas de escolarización en escuelas de Buenos Aires, que impulsan la participación de sujetos con TEA en el circuito de escolarización común. La coexistencia de políticas educativas, discursos profesionales, instituciones y prácticas de intervención configuran complejos escenarios socio-culturales. La teoría de la actividad histórico-cultural desarrollada por Engeström y las conceptualizaciones de Rodrigo sobre modelos mentales se articulan para analizar tensiones y conflictos que atraviesan los procesos de escolarización de alumnos diagnosticados con TEA/TGD y comprender las construcciones representacionales de actores educativos sobre problemas, herramientas e intervenciones. Estudio descriptivo y exploratorio, perspectiva etnográfica, análisis cualitativos, cuestionarios y entrevistas en profundidad. Convergencias y divergencias discursivas entre distintos agentes sobre problemas e intervenciones psicoeducativas y dificultades/ posibilidades de construcción de objetivos comunes de actividad.

This work explores processes of schooling and challenges for development of learning scenarios with students diagnosed with ASD (Autism Spectrum Disorders) or PDD (Pervasive Developmental Disorders). Practices of schooling are discussed in schools in Buenos Aires, which encourage the participation of subjects with ASD in the circuit of mainstream schooling. The coexistence of educational, professional discourses, institutions and practices of intervention, form complex socio-cultural settings. The theory of cultural-historical activity developed by Engeström and Rodrigo conceptualizations about mental models are organized to discuss tensions and conflicts that go through the processes of schooling of students diagnosed with ASD / PDD and understand the representational constructions of educational stakeholders on issues, tools and interventions. A descriptive and exploratory ethnographic perspective, qualitative analysis, questionnaires and interviews in depth. Discursive convergences and divergences between different actors and psychoeducational interventions on issues and challenges / opportunities of building common objectives of activity.

RESUMO

Pervasive Developmental Disorders (PDD) refer to a group of severe neuropsychologic alterations. Symptoms affect three development components: social-interaction skills, language and communication skills and a set of behaviours and activities that become restricted and stereotyped. PDDs include the following disorders: Autistic, Rett's, Infantile Disintegrative, Asperger's and Generalized Non-specific Development Disorder. Regarding to its unknown causes, several explanations have been gathered as a challenging task. They highlight the idea of generalised alterations in the Central Nervous System (CNS). However, the strongest thesis defines a multicausal etiology, with different factors associated to PDDs. Never the less, over the past few years, the review of problems associated with pregnancy and labour have been stressed. This perspective is complemented by other elements that point towards genetic alterations and CNS deficits as causes behind PDD. It has been suggested that pregnancy, labour and even neonatal complications can act on different fronts: increasing the risk of autism or any other PDD, or interacting along with genetic determinants to increase the potential risk at a critical moment in the perinatal development process. The goal of this paper is to study the presence of perinatal risk in mothers of children with and without PDD. A total of 259 mothers took part in the study; 95 were used as an experimental group: they all had a PDD-diagnosed child, according to DSM-IV-TR criteria (68 had autistic disorder, six had Asperger's disorder, one had Rett's disorder and 19 had non-specific PDD). The remaining 165 women had children with a normal evolutive development and were selected as a control group. In order to collect information about perinatal risk, a Maternal Perinatal Risk Questionnaire (MPRQ) was used. This is a structured and specifically-designed autoreport that evaluates the presence or absence of 40 pregestational and perigestational risk factors annalysed from six perspectives: pregestational, perigestational, intrapartum, neonatal, psychosocial and sociodemographic. For every factor evaluated in the MPRQ, an analysis of the average scores and typical deviations was made, along with a frequency and percentage study. Furthermore, a comparative of the frequencies in the control and experimental groups was carried out for every MPRQ item. By means of descriptive analysis, both groups were classified according to the children's age and birth order, the mother's age during pregnancy, current parent's age and their educational and professional levels. When comparing the experimental group's frequencies to those of the control group in the pregestational stage, two significative items were found in Chi-square: the number of previous spontaneous abortions and the use of contraceptive methods. As a result, the control group had fewer spontaneous abortions than the experimental group (10.9% and 22.4% respectively). The use of contraceptive methods previous to pregnancy described the control group's superiority both for hormonal methods and intrauterine devices (IUD). The experimental group was defined by the absence of IUD and the scarce use of hormonal contraceptives (4.3%). In the perigestational dimension, the three significative items in Chi-square were: pharmacological consumption and presence of edema during pregnancy, and premature rupture of amniotic sac. Pharmacological consumption during pregnancy stresses the consumption of medicine or vitamines and iron in control group (81.2%), compared to the group of mothers of children with PDD (60.6%). The presence of gestational edema has been conclusively linked to the control group. As for the premature rupture of waters, a significantly higher presence of amniotic rupture was found in the experimental group compared to the control group. In the intrapartum dimension, the experimental group confirmed higher frequencies in situations that imply a higher perinatal risk such as: a very quick labour or one lasting over 12 hours. In the neonatal dimension, the control group showed with higher percentages (87.9%), the absence of blue coloration -which would be indicative of cyanosis-, when compared to the experimental group (79.8%). The psycho-social dimension included two significant items: the desired gender for the newborn and the desired pregnancy. The desired gender item confirmed that situations of happiness about finding out the baby's gender were higher in the control group (68.4%) than in the experimental group. The desired pregnancy item proved that situations of desired pregnancy were higher in the control group (91.5%) compared to the experimental group (84.0%). Finally, in the socio-demographic dimension, two siginificative items were identified when comparing both groups: the mother's profession and the baby's gender. In one hand, regarding the mother's profession, it was observed that mothers of PDD children were mainly found within home enviroment (37.2%) or unqualfied worker categories (18.1%). On the other hand, in the control group, the mothers who adscribed to the qualified professional category was notably higher (33.3%). Regarding the child's gender, a higher risk is detected in males, at a proportion of 1 to 3. The results of this study showed that there are significative differences between PDD children who developed perinatal risks, compared to children who have a regular evolutive development. Children with PDD will thus show significant differences compared to non-PDD children: they have an unequal perinatal development and developed perinatal risks. Therefore, many risks are present in a higher measure in PDD children when compared to the control group. An innovative contribution is also made, by strongly suggesting that physical risks define the presence of perinatal risks in PDD. However, the psychosocial and sociodemographic dimensions must also be taken into account.

Los trastornos generalizados del desarrollo (TGD), hacen referencia a un conjunto de alteraciones neuropsicológicas graves. Sus síntomas afectan a tres componentes del desarrollo: interacción social, lenguaje y comunicación e intereses, comportamientos y actividades restringidas y estereotipadas. Los TGD incluyen los siguientes trastornos: autismo, Rett, desintegrativo infantil, Asperger y el Trastorno generalizado del desarrollo no especificado. Su etiología resulta poco conocida y es un reto para la investigación actual. En los últimos años se ha acentuado la revisión de los problemas asociados con el embarazo y el parto. Diversas hipótesis sugieren que el embarazo, el parto e incluso las complicaciones neonatales, pueden actuar desde diversos frentes e incrementar el riesgo de autismo y de los demás TGD. El objetivo de esta investigación es estudiar la presencia de riesgos perinatales entre madres de hijos con TGD y madres de hijos sin TGD. En la investigación participaron un total de 259 madres. De ellas, 94 participaron como grupo experimental: todas tenían un hijo con un diagnóstico de TGD, según criterios del DSM-IV-TR (68 con trastorno autista, seis con trastorno de Asperger, uno con trastorno de Rett y 19 con TGD no especificado). Las mujeres restantes (165) fueron seleccionadas como grupo control y eran madres de infantes/niños con un desarrollo evolutivo normal. Para recoger la información sobre la presencia de riesgos perinatales, se utilizó el Cuestionario Materno de Riesgo Perinatal (CMRP). Este cuestionario es un autoinforme estructurado diseñado ad hoc que contempla, desde seis dimensiones -pregestacional, perigestacional, intraparto, neonatal, psicosocial y sociodemo-gráfica-la presencia o ausencia de 40 factores de riesgo pregestacionales y perigestacionales. Para cada factor valorado con el CMRP, se realizó un análisis de las puntuaciones medias y las desviaciones típicas, junto con un estudio de las frecuencias y los porcentajes resultantes. Asimismo, se efectuó una comparativa de las frecuencias y se utilizó el estadístico Chi-cuadrado de Pearson (χ²), de los grupos experimental y control en cada uno de los reactivos del CMRP. En la dimensión pregestacional, se encontraron dos reactivos significativos en Chi-cuadrado: el número de abortos espontáneos anteriores y el uso de métodos anticonceptivos. En la dimensión perigestacional tres reactivos resultaron significativos: el consumo de fármacos y la presencia de edema durante el embarazo, así como también la ruptura prematura de la fuente. En la dimensión intraparto el grupo experimental mostró frecuencias más altas en aquellas situaciones que implican un mayor riesgo perinatal; un parto muy rápido o la tardanza de más de 12 horas en el mismo. En la dimensión neonatal la coloración azulada del neonato, indicativa de cianosis, fue superior en el grupo experimental. Por otra parte, la dimensión psicosocial ofreció dos reactivos significativos: el sexo deseado del bebé y el embarazo deseado. Por último, en la dimensión sociodemográfica, se identificaron dos reactivos importantes al comparar el grupo experimental con el grupo control, que fueron: la profesión de la madre y el sexo del bebé. Los resultados de esta investigación indican que existen diferencias significativas en niños con TGD que presentaron riesgos perinatales frente a otros con desarrollo evolutivo sin dificultades. Los niños con TGD muestran diferencias significativas comparados con otros niños sin TGD: tienen un desarrollo perinatal desigual, con una presencia significativamente distinta de riesgos perinatales. De esta forma, los riesgos físicos definen la presencia de riesgos perinatales en los TGD. Ahora bien, las dimensiones psicosocial y sociodemográfica deben también ser tomadas en cuenta.

RESUMO

The detection of autism is very important because the lack of recognition of this disorder has elevated costs for the families, health care and education providers. Diagnosis is made frequently four or five years after parents notice the first signs. The reasons for this delay are many, but a common one is the lack of recognition of key symptoms that can lead to a more complex diagnosis assessment. Another reason is that screening and diagnostic instruments are not well known by primary caregivers in health and education systems, as these professionals are the first to hear parents' concerns. Moreover the instruments are not well known because the cost of acquiring them and receiving formal training is very high. The need to make comparable assumptions of this complex disorder makes it important to use the same instruments as other countries. Growing efforts for an early recognition have been made in recent years because early intervention programs benefit children with autism. In the last decade, important advances in the design of diagnostic and screening instruments have been made. These tools have primarily been used for clinical, epidemiological or research uses. In some countries their use has become routine in schools, leading to better detection and increasing prevalence rates of autism. Misdiagnosis is not uncommon in autism. Almost 60% of children with Asperger disorder first receive an erroneous diagnosis of attention deficit disorder, oppositionistic or bipolar disorder. Autism presents with a bizarre clinical picture during the years in which many thought it was untestable. Gradual characterization of behaviors and studying different aspects of the symptomatology had led to a better comprehension and descriptions. Most authors have incorporated this knowledge to design reliable instruments. The most common behaviors explored are: protodeclarative pointing, joint attention, repetitive/ stereotyped movements and absence of characteristic symbolic play. This target behavior can be explored through the diverse rating scales and interviews. The instruments are very diverse and varing form. There are rating scales for parents to record their children symptoms and observation schedules to be completed by a clinician or trained professional for that purpose. The best approach is to combine modalities to include as much information as possible. CHAT (Checklist for Autism in Toddlers) is a brief screening instrument intended to detect autism in toddlers. The first part consists of nine questions for parents to complete, while the second part is an observation schedule with five brief age-appropriate interactions with the children. This instrument is an important antecedent of more sophisticated and expanded play observation schedules. Checklist for Autism in Toddlers Modified (CHAT M) is a modified version which consists of an expansion of the parent questionnaire by eliminating the observational section. The Childhood Autism Rating Scale (CARS) is another instrument which assesses the severity of autism. This instrument is rated by clinicians or by trained observers. CARS was designed before DSM IV criteria were published so it does not contain an algorithm to distinguish between different developmental problems. In spite of this limitation, it is the most used rating scale for autism diagnosis. The Child Behavior Checklist (CBCL/1.5-5) is a broad band rating scale which evaluates psychopathology of children between 18 months and five years old. It has a DSM oriented subscale to evaluate developmental problems such as autism or Asperger disorder. It also contains a withdrawn subscale which has proven to be useful as demonstrated by some studies done with the CBCL/4-18. This instrument also allows assessing other associated problems common in autistic children such as attention problems, depression and anxiety. The Language Developmental Survey (LDS) associated to this rating scale, gives the opportunity to screen vocabulary for the identification of language delays, which are common in children with pervasive developmental disorders. It was necessary to have more structured instruments to diagnose autism and not only for screening purposes, so in 1989 the first diagnostic interview was published. The instrument has gone through an extensive review and creative process which has led to the most important tools for diagnosing autism in adults and children. The Autism Diagnostic Interview (ADI) was published in 1989 and correlated to the ICD-10 definition of autism. The original ADI was intended primarily for research purposes, providing behavioral assessment for subjects with a chronological age of at least five years and a mental age of at least two years. The ADI explores three key domains defining autism: (1) reciprocal social interaction, (2) communication and language, and (3) repetitive, stereotyped behaviors. The Autism Diagnostic Interview Revised ADI-R is a semi/ standardizer interview shorter than the ADI, which has been developed for clinical use. It is more appropriate for younger children than the ADI. The ADI-R takes from 2 to 3 hours to administer and can be used with children as young as two years of age (with a mental age greater than 18 months). It explores information about the child functioning in the present and the past. It contains an algorithm based on DSM criteria for autistic disorder, and allows for distinguishing between autistic disorder and non autistic disorder. Pre Linguistic Autism Diagnostic Observation Schedule (ADOS-PL) is a modified version of the ADOS used to diagnose young children (under the age of six years) who are not yet using phrase speech. It is a semi-structured assessment of play, interaction, and social communication and takes about 30 minutes for a trained clinician to administer. The Autism Diagnostic Observation Schedule-Generic (ADOS-G) is a standardized play observation schedule. Through structured play materials and activities promoted by the examiner, social interactions are rated for common autistic features like joint attention, protodeclarative pointing, quality of reciprocal social interaction and symbolic play. Different modules are available from one to four, with specified criteria to match the participants' developmental and language level. It contains an algorithm related to the DSM IV domains of an Autistic Disorder or PDD-NOS. The ADI, ADI/R, ADOS PL, and ADOS G are considered the gold standards for autism diagnosis. There are important reliable instruments for diagnosing autism but extensive training is needed to obtain useful diagnostic information. Since these instruments are very recent, they have not been validated in some countries and neither their cultural bias has been investigated. It is not enough to assess autistic symptoms only for diagnostic purposes; patients need further evaluation to determine their psychosocial functioning, cognitive abilities, and language delay or deviations. The information from these assessments is very important for planning well designed interventions. Even though there is a growing interest in perfecting these modern instruments, diagnosis cannot rely exclusively on them. They are important tools to facilitate the diagnosis, but broader assessment should be pursued. It is important to validate and culturally adapt these instruments so different countries can utilize the same tools and research results can be comparable. In the future more rating scales, observation schedules and diagnostic interviews will be developed for assessing Asperger disorder, to be used in genetic studies, for assessing broad band syndromes. Better cognitive measures will be necessary to evaluate psychosocial impact. But this growing specialization will increase costs so it is important to develop briefer and more cost-effective methods to evaluate persons with autism. The availability of these tools will guarantee early diagnosis and treatment not only for research purposes but for identification in the community.

La detección del autismo en México es muy importante ya que la falta de reconocimiento de este trastorno tiene costos muy elevados para las familias y los prestadores de servicios de salud y educación. Muy a menudo el diagnóstico de autismo se realiza cuatro o cinco años después de que los padres observan los primeros síntomas. Las razones para este reconocimiento tardío son diversas; pero una de las principales es la falta de identificación de síntomas clave que obliguen a una evaluación diagnóstica en forma. Otro motivo es que en nuestro país son poco conocidos los instrumentos de tamizaje y diagnóstico por parte de los profesionistas primarios como maestros y médicos familiares, quienes son los primeros en escuchar las quejas y preocupaciones de los padres. Aun en contextos más especializados, estas herramientas son poco conocidas pues su adquisición y aplicación es un proceso complejo y costoso que a menudo debe realizar el profesionista por su cuenta. A pesar de estos inconvenientes, en años recientes se han realizado grandes esfuerzos para el reconocimiento del autismo puesto que hay evidencias de que las intervenciones tempranas mejoran el pronóstico en estos niños. En la última década se han realizado avances muy importantes en el diseño de instrumentos de diagnóstico y tamizaje, a los que se han utilizado con propósitos de investigación clínica y epidemiológica. En algunos países su uso se ha vuelto una rutina en las escuelas y se ha logrado una mayor detección de autismo por lo que se han elevado las tasas de prevalencia. Los instrumentos son muy diversos, pueden ser listas de autoinforme dirigidos a los padres para que registren los síntomas de los niños, o cédulas de observación para ser completadas por el clínico o el personal entrenado para tal propósito. Lo mejor es el uso mixto de instrumentos para obtener la mayor cantidad de información posible como es el caso del CHAT que incluye una sección de interrogatorio y otra sección de observación con actividades que el niño debe desarrollar. Este instrumento es precursor de actividades sencillas y creativas con un componente lúdico, diseñadas con el propósito de evaluar al niño preescolar. Hoy este es un importante antecedente de otros instrumentos más elaborados. El cuestionario para el autismo en niños preescolares modificado CHAT M es una versión modificada del el cuestionario para el autismo en niños preescolares (CHAT) que consiste en una expansión de la sección de interrogatorio para el padre, con un formato de autoinforme que parte de la eliminación de la sección de observación. Otros instrumentos miden la gravedad del autismo como la Escala de Evaluación de Autismo Infantil (CARS), dirigida al clínico que evalúa la intensidad del autismo. La lista de síntomas del niño de 1.5-5 (CBCL/1.5-5) es un instrumento de banda ancha que evalúa la psicopatología general en niños con edad entre 18 meses y cinco años; contiene una subescala de problemas del desarrollo que sirve como tamizaje para evaluar el autismo y el trastorno por Asperger con base en los criterios del DSM. Se han diseñado y se han perfeccionando paulatinamente varias entrevistas de diagnóstico. La entrevista de diagnóstico de autismo (ADI), la entrevista de diagnostico para el autismo revisada (ADI-R), la cédula prelingüística genérica de observación para el autismo (ADOS PL), y la cédula de observación genérica para el autismo (ADOS G) son escalas consideradas standard de oro para el diagnóstico del autismo. Conforme se han mejorado las propiedades psicométricas, de los instrumentos, éstos también se han ajustado para cubrir las necesidades de evaluación de los pacientes autistas con un amplio rango de edad, destreza verbal y cognitiva. Como resultado, podemos contar con instrumentos confiables y adecuados para una población con necesidades muy diversas; estas herramientas nos han demostrado que un constructo tan complejo y amplio como el autismo se puede medir. En este artículo se presenta una breve revisión de la evolución histórica de la clasificación acorde a los criterios del DSM y a la descripción de los principales instrumentos de diagnóstico, y los datos de su validez y confiabilidad.

RESUMO

CONTEXTO: Atualmente, a comorbidade transtorno do déficit de atenção e hiperatividade (TDAH) e transtornos invasivos do desenvolvimento (TID) não pode ser estabelecida por meio dos critérios da DSM-IV. Entretanto, diversos pesquisadores questionam esta impossibilidade descrevendo quadros clínicos de pacientes que apresentam características de ambos os transtornos. Esta revisão busca estes achados e propõe uma reflexão sobre o assunto. OBJETIVO: Revisar, de modo seletivo, estudos mais significativos da literatura para compilar uma atualização sobre a comorbidade transtorno do déficit de atenção e hiperatividade (TDAH) e transtornos invasivos do desenvolvimento (TID). MÉTODO: Por meio de busca no sistema Medline, selecionaram-se todos os artigos em inglês, publicados entre 2000 e 2005, sobre sintomas de TDAH em pacientes com TID, sintomas autistas em pacientes com TDAH e duplo diagnóstico TDAH/TID, utilizando-se os termos "ADHD", "pervasive", "autism", "ADD", "Asperger" e "PDD". RESULTADOS: Encontraram-se 10 artigos que atendiam aos critérios. Embora haja poucos estudos com amostras pequenas, diferentes autores identificaram um subgrupo distinto de pacientes com TID e maior freqüência e gravidade de sintomas de desatenção e hiperatividade, que aparentemente apresentam menor resposta ao tratamento com estimulantes. CONCLUSÃO: Embora o diagnóstico duplo TDAH e TID não seja corroborado pelo DSM-IV, alguns resultados sugerem que essa comorbidade não deva ser desconsiderada.

BACKGROUND: Nowadays, the attention-deficit hyperactivity disorder/pervasive developmental disorder (ADHD/PDD) comorbidity is not accepted by DSM-IV criteria. However, researchers from both areas put in check this impossibility and describe patients who have both clinical aspects from attention-deficit hyperactivity disorder (ADHD) and pervasive developmental disorder (PDD). In this article we search for this findings proposing new insights on this assumption. OBJECTIVE: To perform a selective review of the most significant studies in order to compile an update on comorbidity ADHD and PDD. METHOD: All papers from 2000 to 2005 in English obtained through Medline search, covering ADHD symptoms in patients with PDD, autistic symptoms in patients with ADHD and the double diagnosis of ADHD and PDD using the terms "ADHD", "pervasive", "autism", "ADD", "Asperger" e "PDD". RESULTS: Ten papers attending the criteria were found. Although there are only few studies with small samples, different authors have identified a subgroup of patients with PDD portraying more severe symptoms of ADHD, who apparently respond less well to stimulants CONCLUSION: Although DSM-IV criteria do not allow the diagnosis of this comorbidity, some results suggest that this possibility should not be discarded.

Assuntos