Dinâmica Relacional das Redes Sociais Significativas de Mães de Filhos com Transtorno do Espectro Autista / Relational Dynamics of Meaningful Social Networks of Mothers of Children with Autism Spectrum Disorder / Dinámica Relacional de Redes Sociales Significativas de Madres de Niños con Trastorno del Espectro Autista

O diagnóstico de um filho com Transtorno do Espectro Autista se configura como evento estressor para a família, especialmente para as mães, podendo trazer implicações relacionais, sociais e emocionais para estas. Este estudo buscou compreender as repercussões do diagnóstico de TEA na dinâmica relacional das redes sociais significativas maternas. Trata-se de estudo qualitativo, descritivo e exploratório, do qual participaram 12 mães de filhos com TEA. Os dados foram coletados através de entrevistas reflexivas e do mapa de redes sociais significativas, analisados por meio da Teoria Fundamentada nos Dados. Identificou-se uma diminuição do número de vínculos nas redes sociais significativas das participantes após o diagnóstico do filho. Nas relações familiares, houve aumento de vínculos, embora as mães não se sentissem suficientemente apoiadas; nas relações extrafamiliares, houve diminuição de membros, mas observou-se a presença de apoio satisfatório entre alguns vínculos situados nesse contexto. Conclui-se que, para que a rede possa ser efetiva no oferecimento de apoio social, é preciso conjugar a disponibilidade materna para receber apoio e o preparo dos membros das redes sociais para manejar as especificidades do TEA. Assim, sugere-se maior investimento na instrumentalização das redes sociais significativas para acolhimento do processo vivenciado por mães de filhos com TEA.

The diagnosis of a child with Autism Spectrum Disorder is configured as a stressful event for the family, especially for mothers, and may have relational, social and emotional implications for them. This study aimed to understand the repercussions of ASD diagnosis on the relational dynamics of significant maternal social networks. This is a qualitative, descriptive and exploratory study, in which 12 mothers of children with ASD participated. Data were collected through reflective interviews and the significant social networks map, analyzed using Grounded Theory. A decrease in the number of members in the participants' significant social networks was identified after their child's diagnosis. In family relationships, there was an increase in members, although the mothers did not feel sufficiently supported; there was a decrease in the number of members in extra-family relationships, but the presence of satisfactory support was observed in some members located in this context. It is concluded that, for the network to be effective in offering social support, it is necessary to combine maternal availability to receive support and preparation of social networks members to handle the specificities of the ASD. Thus, greater investment is suggested in the instrumentalization of significant social networks to nurse the process experienced by mothers of children with ASD.

El diagnóstico de un niño con Trastorno del Espectro Autista se configura como evento estresante para la familia, especialmente para madres, pudiendo tener implicaciones relacionales, sociales y emocionales para ellas. Este estudio buscó comprender las repercusiones del diagnóstico de TEA en la dinámica relacional de redes sociales significativas maternas. Se trata de un estudio cualitativo, descriptivo y exploratorio, en que participaron 12 madres de niños con TEA. Los datos fueron colectados mediante entrevistas reflexivas y mapa de redes sociales significativas, analizados utilizando Grounded Theory. Se identificó una disminución del número de miembros en las redes sociales significativas de las participantes después del diagnóstico del hijo. En las relaciones familiares, hubo aumento de miembros, aunque las madres no sintieron apoyo suficiente; en las relaciones extrafamiliares, hubo una disminución de miembros, pero se observó la presencia de apoyo satisfactorio entre algunos vínculos situados en este contexto. Se concluye que, para que la red sea efectiva en ofrecer apoyo social, es necesario combinar disponibilidad materna para recibir apoyo y preparación de los miembros de las redes sociales para manejar especificidades del TEA. Se sugiere una mayor instrumentalización de redes sociales significativas para acoger el proceso vivido por madres de niños con TEA.

Consultas de demanda espontánea sobre trastornos del desarrollo en el Hospital Garrahan / Spontaneous consultations for developmental disorders at Garrahan Hospital

Introducción: Los trastornos del desarrollo (TD) constituyen un motivo de consulta muy frecuente en la práctica pediátrica. El Hospital Garrahan recibe por demanda espontánea al servicio de Mediano Riesgo (MR) consultas de cuidadores con preocupaciones sobre el desarrollo de los niños, niñas y adolescentes (NNyA). Allí son valorados por pediatras clínicos, quienes realizan la interconsulta al servicio de Clínicas Interdisciplinarias del Neurodesarrollo (CIND) según necesidad (representan el 10% del total de consultas en MR). El objetivo del trabajo es comparar las características de los pacientes de MR que fueron consultados al área de Maduración de CIND durante el bimestre marzo/abril de 2016, 2021 y 2022. Materiales y métodos: estudio retrospectivo, observacional y comparativo. Se revisaron las historias clínicas analizando las siguientes variables: edad, procedencia, contar con pediatra de cabecera, cobertura de salud, motivo de consulta y sospecha diagnóstica. Resultados: La cantidad de consultas aumentó por encima del 20%, con un descenso en la mediana de edad de alrededor de un año. Aproximadamente el 70% de los pacientes procedían del conurbano en los tres períodos. Observamos un descenso respecto al número de NNyA con seguimiento pediátrico y cobertura social. El lenguaje y la conducta fueron los motivos más frecuentes de consulta y la mayor sospecha diagnóstica fue el Trastorno del Espectro Autista (TEA). Conclusiones: Los datos observados pueden relacionarse con el impacto de la pandemia así como también con las condiciones socio-económicas de los últimos cinco años, con un mayor conocimiento acerca del desarrollo y un probable aumento de la prevalencia de los TD (AU)

Introduction: Developmental disorders (DD) are a frequent reason for consultation in pediatric practice. The Garrahan Hospital receives spontaneous consultations at the department of Intermediate Risk (IR) from caregivers with concerns about the development of children and adolescents. At the IR department, children and adolescents are evaluated by clinical pediatricians, who consult with specialists at the Interdisciplinary Neurodevelopmental Clinic (INDC) as needed (accounting for 10% of the total number of consultations at the IR department). The aim of this study was to compare the characteristics of IR patients who were consulted at the INDC during the bimonthly period March/April 2016, 2021, and 2022. Materials and methods: a retrospective, observational, and comparative study was conducted. Medical records were reviewed analyzing the following variables: age, provenance, having a primary care pediatrician, healthcare insurance, reason for consultation, and diagnostic suspicion. Results: The number of consultations increased by over 20%, with a decrease in median age of around one year. Approximately 70% of the patients came from Greater Buenos Aires in the three periods. A decrease in the number of children and adolescents with pediatric follow-up and a social health insurance was observed. Language and behavior disorders were the most frequent reasons for consultation and autism spectrum disorder (ASD) was most often suspected. Conclusions: The observed data may be related to the impact of the pandemic as well as socio-economic conditions over the last five years, together with increased knowledge about development and a probable increase in the prevalence of ASD (AU)

Research progress on cognitive function in adults with congenital heart disease / 中国胸心血管外科临床杂志

@#Congenital heart disease (CHD) is a series of structural cardiac abnormalities resulting from abnormal fetal heart development. With the prolongation of survival time, their cognitive function problems begin to be concerned. From fetus period to adulthood, people with complex CHD are more likely to have abnormalities in brains. Children with complex CHD have a significantly increased risk of developmental disorders in cognitive functions, such as intelligence, attention and psychosocial disorders. These diseases persist into their adulthood. Adults with CHD have earlier neurocognitive decline, poorer performance in intelligence, executive function, attention and academic achievement, and are more likely to have mood disorders, higher incidence of mental disorders and lower quality of life. This paper reviews the studies on cognitive function of adult patients with CHD from the dimension of the whole life cycle.

Refractive Errors in Children with Intellectual Developmental Disorders Attending Special School in Puducherry.

Vision plays a major role in acquiring various skills as the child grows, like understanding facial expression and communication. In children with intellectual disabilities, vision problems would further impair their social and learning activities. We wanted to assess the refractive errors in children with intellectual developmental disorders attending a special school.METHODSThis was a cross sectional study which included the children aged between 4 and 15 years with intellectual developmental disorders (earlier referred as mental retardation) who were attending a special school. After taking permission from the school director and consent from parents or guardian who accompanied the child, detailed ocular examination was done. Visual acuity assessment and cycloplegic retinoscopy of all children was also done and spectacles were prescribed. Children requiring further evaluation were referred to base hospital. RESULTSA total of 50 children with mental retardation were enrolled. There were 28 (56%) male and 22 (44%) female children in the study. 40 (80%) children had ocular problems, 28 (56%) children were unable to cooperate for visual assessment. Refractive error was the commonest ocular disorder noted in 22 (55%) children followed by strabismus in 7 (17.5%) children and nystagmus in 5 (12.5%) children. Among the refractive errors, myopia was noted in 64.1% of children, followed by astigmatism and hypermetropia in 23.1% and 12.8% children respectively.CONCLUSIONSThe ocular abnormalities noted among these special children increases with the severity of the disability along with worsening of their communication and cooperation. Early identification and correction of the treatable visual problems would benefit these children in their training, communication and thus helps in their rehabilitation.

Basic Understanding of Support for Students Who Have Developmental Disorders at Medical Training Institutions / 医学教育

The Act for Eliminating Discrimination against Persons with Disabilities stipulates that medical training institutions need to offer the provision of Reasonable Accommodation to students with developmental disorders and/or related characteristics.　Reasonable Accommodation is the consideration to guarantee the rights of students with developmental disorders; thus, educational institutions have an obligation to provide this Reasonable Accommodation.　In this paper, we outlined specific support for students with developmental disabilities and related characteristics in medical training institutions from the aspects of “enrollment,” “university education,” and “employment.”　Essential ways to support students with developmental disorders and related characteristics include the presentation of clear criteria, mutual cooperation, and collaboration between faculty members and administrative staff, as well as understanding the basics of how to interact with such students.

Diagnostic Accuracy of International Epidemiology Network (INCLEN) Diagnostic Tool for Autism Spectrum Disorder (INDT-ASD) in Comparison with Diagnostic and Statistical Manual of Mental Dis- orders-5 (DSM-5)

Objective: To compare the diagnostic accuracy of INCLEN Diagnostic Tool for AutismSpectrum Disorder (INDT-ASD) against Diagnostic and Statistical Manual of MentalDisorders – 5 (DSM-5) for the diagnosis of Autism Spectrum Disorder (ASD). Methods: 118children aged 2-9 years with symptoms suggestive of ASD were assessed by INDT-ASDand DSM-Vby trained personnel. ASD diagnosis by INDT-ASD was compared against theexpert’s DSM-5 diagnosis. Results: INDT-ASD had a sensitivity and specificity of 100% and75%, respectively against DSM-5 for the diagnosis of ASD; specificity for Autistic Disorderwas 87%. Conclusion: The INDT-ASD has a good sensitivity and specificity against DSM-5,and can continue to be used for the diagnosis of ASD even after the adoption of DSM-5criteria

The intellectual developmental disorders Mexico study: situational diagnosis, burden, genomics and intervention proposal / Estudio sobre trastornos del desarrollo intelectual en México: diagnóstico situacional, carga, genómica y propuesta de intervenciones

Abstract: Objective: This study aims to generate evidence on intellectual development disorders (IDD) in Mexico. Materials and methods: IDD disease burden will be estimated with a probabilistic model, using population-based surveys. Direct and indirect costs of catastrophic expenses of families with a member with an IDD will be evaluated. Genomic characterization of IDD will include: sequencing participant exomes and performing bioinformatics analyses to identify de novo or inherited variants through trio analysis; identifying genetic variants associated with IDD, and validating randomly selected variants by polymerase chain reaction (PCR) and sequencing or real-time quantitative PCR (qPCR). Delphi surveys will be done on best practices for IDD diagnosis and management. An external evaluation will employ qualitative case studies of two social and labor inclusion programs for people with IDD. Conclusions: The results will constitute scientific evidence for the design, promotion and evaluation of public policies, which are currently absent on IDD.

Resumen: Objetivo: Esta investigación busca generar evidencia sobre trastornos del desarrollo intelectual (TDI) en México. Material y métodos: La carga de la enfermedad por TDI se estimará con un modelo probabilístico usando encuestas poblacionales. Se estimarán costos directos e indirectos de gastos catastróficos de familias con un integrante conTDI. La caracterización genómica deTDI incluirá secuenciar exomas, realizar análisis bioinformático para identificar variantes de novo o heredadas a través de análisis de tríos, identificar variantes genéticas asociadas con TDI, y validar variantes aleatoriamente seleccionadas con reacción en cadena de polimerasa y secuenciación o qPCR. Se harán encuestas Delphi sobre mejores prácticas de diagnóstico y manejo de TDI. Una evaluación externa empleará estudios cualitativos de caso de dos programas de inclusión social y laboral para personas con TDI. Conclusiones: Los resultados serán evidencia científica que podrá ser la base para el diseño, promoción y evaluación de políticas públicas, actualmente ausentes para TDI.

Developmental Disorders- Genetic View.

Objective: To review genetic cause of developmental disorders. Methodology: A survey consisting of 70 children with developmental disorder was done for genetic evaluation of these disorders through case history and interview of the parents. Results: The cause was found to be combination of genetic variation with environmental risks due to which epigenetic changes might have taken place in prenatal stages in 81% of the cases in the survey. Only 16% of cases showed mendelian inheritance. Conclusion: The results indicate that developmental disorders are of epigenetical nature rather than mendelian inheritance.

Amenorrea primaria: experiencia de la Unidad de Endocrinología Ginecológica del Hospital Universitario de Caracas (Revisión de la literatura)

Objetivo: Establecer la prevalencia de amenorrea primaria en la consulta de Endocrinología Ginecológica del Hospital Universitario de Caracas y las entidades nosológicas involucradas. Métodos: Estudio retrospectivo y descriptivo de las historias clínicas de las pacientes que consultaron por amenorrea primaria durante el período 2013 a 2015, quienes fueron categorizadas retrospectivamente en 4 grupos según el algoritmo diagnóstico de Mashchak. Resultados: El 6,48 % (46 / 710 pacientes) fueron casos de amenorrea primaria. La etiología comprendió: hipogonadismo-hipergonadotrópico (46,47 % / 7 casos), hipogonadismo-hipogonadotrópico (33,34% / 5 casos), síndrome de Rokitansky (6,67 % / 1 caso), defecto de acción de andrógeno (6, 67 % / 1 caso) y trastorno 46, XY ovotesticular (6,67 % / 1 caso). Conclusiones: La amenorrea primaria representa un motivo de consulta poco frecuente, pero la diversidad y complejidad de las patologías que la producen, ameritan el uso de esquemas que permitan un diagnóstico sencillo, el uso del algoritmo propuesto por Mashchak nos permitió un diagnóstico eficiente de los casos. La diversidad de estas patologías amerita un equipo multidisciplinario para un manejo adecuado.

Objectives: To establish the prevalence of primary amenorrhea in Gynecological Endocrinologic Unit of Hospital Universitario de Caracas; and the etiology involved. Method: Retrospective and descriptive study of medical records of patients who consulted for primary amenorrhea, during the period 2013-2015. Were retrospectively categorized into 4 groups according Mashchak algoritm. Results: 6.48 % (46/710 patients) were cases of primary amenorrhea. The etiology includeded: hypogonadism hypergonadotropic (46.47 %/7 cases), hypogonadotropic hypogonadism (33.34 % / 5 cases), Rokitansky syndrome (6,67 % / 1 case), defect in androgen action (6. 67 % / 1 case), disorder 46, XY ovotesticular (6.67 % / 1 case). Conclusions: With a wide diversity and complexity of pathologies that produce primary amenorrhea, it requires the use of diagnostic categories based on physical examination and a minimal laboratory investigation that allow a simple diagnosis. In this sense, using the algoritm proposed by Mashchak allowed us to efficiently diagnose the aforementioned cases. The diversity of these diseases requires the inclusion of a multidisciplinary team in orden to achieve a proper management.

Bilateral gemination of maxillary permanent incisors: a case report

Developmental dental disorders may be due to anomalies in tooth number, size, shape and structure. Gemination and fusion are anomalies of shape with close similarity but with different etiology. Gemination and fusion are anomalies of shape with close similarity but with different etiology. The etiology of germination is not fully understood environmental factors such as trauma, vitamin deficiencies, systemic diseases and certain genetic predisposition have been suggested as possible causes. A 9 year old male patient reported to the department of pedodontics and preventive dentistry Dr R Ahmed Dental College & Hospital with the chief complaint of unaesthetic upper front teeth on clinical examination. It was found that the upper central incisors were markedly large in size with buccolingual grooves present partially separating two halves of crown. The incisors were caries free and there was no history of pain or any discomfort. Since the roots were not completely formed the patient was kept on follow up for the treatment to be delivered.

Elementos para la comprensión del trastorno de espectro autista / Elements for the understanding of autistic spectrum disorder

En el 2015, el Ministerio Colombiano de Salud y Protección Social, socializó el protocolo de evaluación e intervención para pacientes con Trastorno de espectro autista, aceptando las referencias del DSM-5; este protocolo incluyó técnicas de evaluación e intervención integral, que si bien son significativas, no resultan suficientes para la atención de una población vulnerable con múltiples dificultades. Por tal razón, se ha sugerido continuar con procesos de educación, sensibilización y justificación en un plano científico y político para la comprensión y análisis de una problemática en la que aún no se tiene grandes certezas.

In 2015, the Colombian Ministry of Health and Social Protection, socialized the evaluation and intervention protocol for patients with Autism Spectrum Disorder, accepting DSM-5 references; This protocol included comprehensive evaluation and intervention techniques, which, although significant, are not sufficient for the care of a vulnerable population with multiple difficulties. For this reason, it has been suggested to continue with processes of education, awareness and justification in a scientific and political level for the understanding and analysis of a problem in which we do not yet have great certainties.

Behavior problems and social competence in Brazilian children with specific language impairment

Abstract This study aimed to investigate the behavior and social profile of Brazilian children with specific language impairment (SLI) and explore whether the severity of language deficits was associated with behavioral problems and low social competence. Twenty-four children with SLI aged from 6 to 11 years who showed substantial expressive language problems and were receiving speech-language therapy were assessed through the Child Behavior Checklist (CBCL). Children with SLI showed high rates of behavioral problems and low levels of social competence. With the exception of two subscales ("somatic" and "rule breaker"), the percentage of children with SLI at risk of behavioral problems was significantly higher than the same proportion in the general population; and almost all children with SLI (95.2 %) demonstrated problems with social competence. The severity of language deficits was associated with the risk of behavioral problems according to only one criterion. No associations were found between the severity of language problems and social competence. The study provides cross-cultural evidence to support the existence of behavior problems and reduced social competence in children with SLI. Our findings point to the need of using a combination of measures to classify the severity of language problems rather than a single dimension. (AU)

La neuropsicología transaccional, hacia una concepción integral de las dificultades del desarrollo infantil / Transactional Neuropsychology, a Holistic View of Children with Developmental Disabilities / A neuropsicologia transacional, a uma concepção integral das dificuldades do desenvolvimento infantil

Introducción: El objetivo principal de este artículo es revisar algunos conceptos esenciales para comprender la forma tradicional en la que la neuropsicología concibe las dificultades del desarrollo infantil, y proponer un modelo alternativo para comprender esta problemática de manera integral. Desarrollo: Médicos, psicólogos, terapeutas y docentes conciben las dificultades del desarrollo como el resultado de un problema neurobiológico, susceptible de ser identificado y tratado. Este postulado, que es ampliamente utilizado en la actualidad por los equipos interdisciplinarios, constituye el enfoque predominante y la posición tradicional para la evaluación e intervención en medicina, psicología y educación. El modelo tradicional, conocido como el modelo del déficit, conceptualiza las dificultades del desarrollo infantil como un problema esencialmente neurobiológico, sin tener en cuenta los diferentes aspectos del entorno familiar y escolar, los cuales tienen una importancia capital, no solamente para el desarrollo del niño, sino también en la génesis de sus dificultades. Esto explica por qué los esfuerzos que se invierten en la rehabilitación y en la educación del niño con dificultades tienen un éxito limitado. Por el contrario, la neuropsicología ecológica o transaccional es un enfoque que considera al niño de forma integral, relacionado con su entorno social, familiar y cultural. Conclusión: La conceptualización e interpretación integral de estos fenómenos conduce a una intervención holística donde se evalúa cada elemento del problema, lo que lleva a proponer un modelo en el que el ambiente cumple un papel preponderante en la génesis y en la búsqueda de soluciones de las dificultades del desarrollo infantil.

Introduction: The main objective of this article is to review some essential concepts to understanding the traditional way in which neuropsychology conceives difficulties in child development, and to propose an alternative model for integrally understanding this problematic. Development: Physicians, psychologists, therapists, and teachers conceive difficulties in development as a result of a neuro-biological problem that can be subject of identification and treatment. This premise, widely used currently by interdisciplinary staffs, is the prevailing focus and the traditional position to evaluate and intervene in medicine, psychology and education. The traditional model, known as the deficit model, conceptualizes the difficulties in child development as being essentially neuro-biological, without considering the various aspects of both family and school environments, which are of paramount importance not only for the child development, but also in the genesis of its difficulties. This explains why efforts invested in the rehabilitation and education of the child with difficulties have a limited success. In contrast, the ecological or transactional neuropsychology is an approach that considers the child in a comprehensive manner, relating with its social, family and cultural environment. Conclusion: Integrally conceptualizing and interpreting these phenomena leads to a holistic intervention where each element of the problem is assessed, leading to the proposal of a model in which the environment plays a crucial role in the genesis of the difficulties in child development, and the search for solutions.

Introdução: O objetivo principal deste artigo é revisar alguns conceitos essenciais para compreender a forma tradicional como a neuropsicologia concebe as dificuldades do desenvolvimento infantil e propor um modelo alternativo para compreender esta problemática de maneira integral. Desenvolvimento: Médicos, psicólogos, terapeutas e docentes concebem as dificuldades do desenvolvimento como o resultado de um problema neurobiológico, susceptível de ser identificado e tratado. Este postulado, que é amplamente utilizado na atualidade pelas equipes interdisciplinares, constitui o enfoque predominante e a posição tradicional para a avaliação e intervenção em medicina, psicologia e educação. O modelo tradicional, conhecido como o modelo do déficit, conceitua as dificuldades do desenvolvimento infantil como um problema essencialmente neurobiológico, sem ter em conta os diferentes aspectos do entorno familiar e escolar, os quais têm uma importância capital, não só para o desenvolvimento da criança, mas também na gênese de suas dificuldades. Isto explica por que os esforços que se intervêm na reabilitação e na educação da criança com dificuldades têm um sucesso limitado. Pelo contrário, a neuropsicologia ecológica ou transacional é um enfoque que considera à criança de forma integral, relacionado com seu entorno social, familiar e cultural. Conclusão: A conceptualização e interpretação integral destes fenômenos, conduz a uma intervenção holística onde se avalia cada elemento do problema, levando a propor um modelo no que o ambiente joga um papel preponderante na gênese, e na busca de soluções, das dificuldades do desenvolvimento infantil.

Criatividade em indivíduos com transtornos e dificuldades de aprendizagem: revisão de pesquisas / Creativity in individuals with disorders and learning disabilities: research review / Creatividad en individuos con trastornos y dificultades de aprendizaje: revisión de investigación

O presente trabalho teve como objetivo identificar as produções científicas nacionais e internacionais que tiveram como foco a investigação da relação entre criatividade e dificuldades/transtornos de aprendizagem. Em nível nacional foram consultadas as bases de dados SCIELO, PEPSIC, CAPES e BDTD e no internacional, as bases APA, ERIC, PubMed e Scopus, sem delimitação de tempo. Como resultado, constatou-se a existência de 57 produções internacionais e cinco nacionais. As análises identificaram que não houve diferenças estatísticas significativas entre as médias das produções das últimas três décadas e que as investigações focalizaram principalmente o transtorno específico de leitura/Dislexia, o uso da metodologia quantitativa e o emprego do Teste de Torrance. Alguns nomes dados aos grupos investigados na maioria dos trabalhos não denotaram com clareza as origens das dificuldades de aprendizagem - se seriam ou não decorrentes de transtorno de aprendizagem. Concluiu-se que são necessários novos estudos sobre a temática, nos quais se caracterizem melhor os grupos investigados e a nomenclatura utilizada.

This study aimed to characterize the national and international scientific production focused on investigating the relationship between creativity and difficulties / learning disabilities. Nationally were consulted the SCIELO databases, PEPSIC, CAPES and BDTD and internationally the APA bases, ERIC, PubMed and Scopus without delimitation of time. The results indicated the existence of 57 international and five domestic productions. The analysis found that there were no significant statistical differences between the averages of the past three decades productions; the investigations have focused mainly on the specific reading disability/Dyslexia; use of quantitative methodology; and using the Torrance Test. Some classifications given to groups investigated in most studies do not denote clearly the origins of learning disabilities, whether they were or not resulting from the learning disorder. We conclude that further studies are needed on the subject, provided there is a better characterization of the investigated groups and classifications used.

El presente estudio tuvo como objetivo caracterizar la producción científica nacional e internacional centrada en la investigación de la relación entre creatividad y dificultades/trastornos de aprendizaje. Nacionalmente se consultaron las bases de datos SCIELO, PEPSIC, CAPES y BDTD e internacionalmente de las bases APA, ERIC, PubMed y Scopus, sin delimitación de tiempo. Los resultados indicaron la existencia de 57 producciones internacionales y cinco nacionales. Los análisis identificaron que no hubo diferencias estadísticas significativas entre las medias de las producciones de las últimas tres décadas; investigaciones más centrada en el trastorno específico de la lectura/Dislexia; uso de la metodología cuantitativa; y la utilización del Test de Torrance. Algunas nomenclaturas dadas a los grupos investigados en la mayoría de los trabajos no denotaron con clareza as orígenes de las dificultades de aprendizaje, si serían o no derivados de trastorno de aprendizaje. Se concluye que son necesarios nuevos estudios sobre la temática, desde que haya mejor caracterización de los grupos investigados y de las nomenclaturas utilizadas.

Diagnostic Accuracy of Indian Scale for Assessment of Autism (ISAA) in Chidren Aged 2-9 Years.

Objective: To determine the diagnostic accuracy of Indian Scale for Assessment of Autism (ISAA) in children aged 2-9 year at high risk of autism, and to ascertain the level of agreement with Childhood Autism Rating Scale (CARS). Design: Diagnostic Accuracy study Setting: Tertiary-level hospital. Participants: Children aged between 2 and 9 year and considered to be at a high risk for autism (delayed development, and age-inappropriate cognition, speech, social interaction, behavior or play) were recruited. Those with diagnosed Hearing impairment, Cerebral palsy, Attention deficit hyperactivity disorder or Pervasive developmental disorders (PDD) were excluded. Methods: Eligible children underwent a comprehensive assessment by an expert. The study group comprising of PDD, Global developmental delay (GDD) or Intellectual disability was administered ISAA by an investigator after one week. Both evaluators were blinded. ISAA results were compared to the Expert’s diagnosis and CARS scores. Results: Out of 102 eligible children, 90 formed the study group (63 males, mean age 4.5y). ISAA had a sensitivity 93.3, specificity of 97.4, positive and negative likelihood ratios 85.7 and 98.7 and positive and negative predictive values of 35.5 and 0.08, respectively. Reliability was good and validity sub-optimal (r low, in 4/6 domains). The optimal threshold point demarcating Autism from ‘No autism’ according to Receiver Operating Characteristic curve was ISAA score of 70. Level of agreement with CARS measured by Kappa coefficient was low (0.14). Conclusions: The role of ISAA in 3-9 year old children at high risk for Autism is limited to identifying and certifying Autism at ISAA score of 70. It requires re-examination in 2-3 year olds.

Influence of aberrant behaviors on the mental health of caregivers for patients with pervasive developmen-tal disorders / 中国神经精神疾病杂志

Objective To investigate the influence of hyperactivity, Stereotyped behaviors , self-injury and irritabili?ty on parenting stress and emotions of the caregivers for patients with pervasive developmental disorders (PDDs). Methods Abnormal behaviors during last month were assessed in 138 PDDs patients by using Aberrant Behavior Checklist (ABC) and Conners Index of Hyperactivity (CIH). The parenting stress and the emotional state of the patients’parents were evalu?ated by the Caregiver Strain Questionnaire (CGSQ) and Hospital Anxiety and Depression Scale (HAD), respectively. Re?sults Anxiety, depression and combination of anxiety and depression were present in 6.2%, 17.8%and 29.5%of PDDs caregivers, respectively. The partial correlation analysis showed that CGSQ score of patients’parents positively correlated with CIH score (r=0.201, P=0.023) and stereotyped act (r=0.189, P=0.033) of the patients, and negatively correlated with stereotyped speech (r=-0.219, P=0.013). The anxious mood of parents positively correlated with stereotyped act (r=0.206, P=0.021). Conclusions Anxiety and depression are common in caregivers of PDDs. Except for stereotyped speech, aber?rant behaviors of the PDDs increase parenting stress and worsen anxious mood of caregivers.

Incidence of aberrant behaviors in children with pervasive developmental disorders / 中华行为医学与脑科学杂志

Objective To evaluate the incidence of four aberrant behaviors in patients with pervasive developmental disorders (PDDs).Methods The abnormal behaviors during the last month in 138 PDDs patients were assessed with Aberrant Behavior Checklist and Conners Index of Hyperactivity.Results The incidence of aberrant behaviors was 61.6％ for hyperactivity,81.9％ for stereotyped behaviors,13.77％ for self-injury,and 58.70％ for irritability in PDDs patients.The occurance of irritability in autism patients was higher than that of asperger syndrome (AS) patients (x2 =5.623,P=0.018).Conclusion Stereotyped behaviors,hyperactivity and irritability are common in children with PDDs.Autism patients are more likely to exhibit irritability behaviors than AS patients.

Roles of mTOR Signaling in Brain Development

mTOR is a serine/threonine kinase composed of multiple protein components. Intracellular signaling of mTOR complexes is involved in many of physiological functions including cell survival, proliferation and differentiation through the regulation of protein synthesis in multiple cell types. During brain development, mTOR-mediated signaling pathway plays a crucial role in the process of neuronal and glial differentiation and the maintenance of the stemness of neural stem cells. The abnormalities in the activity of mTOR and its downstream signaling molecules in neural stem cells result in severe defects of brain developmental processes causing a significant number of brain disorders, such as pediatric brain tumors, autism, seizure, learning disability and mental retardation. Understanding the implication of mTOR activity in neural stem cells would be able to provide an important clue in the development of future brain developmental disorder therapies.

Caracterização dos usuários de um Centro de Atenção Psicossocial Infantojuvenil do município de Salvador (BA) / Characterization of users in a Psychosocial Care Center for Children and Youth of the municipality of Salvador (BA): contributions for construction of a medical device

Neste estudo objetivou-se caracterizar o perfil dos pacientes diagnosticados com Transtorno Global do Desenvolvimento, atendidos em um Capsi que visa ofertar cuidados em saúde mental para crianças e adolescentes com transtornos mentais severos e persistentes no Município de Salvador (BA). Realizou-se um estudo exploratório descritivo a partir de dados secundários de um Centro de Atenção Psicossocial Infantojuvenil localizado no Município supracitado. A análise foi realizada considerando dois conjuntos de variáveis, a saber: a) variável relativa à clientela: idade, sexo, diagnóstico, b) variável relativa ao cuidado oferecido: refere-se à modalidade de atendimento em que o paciente foi engajado. Verificou-se que o serviço em questão possui em seu quadro um total de 480 usuários, sendo 72% pertencente ao sexo masculino, com maior expressividade dos diagnósticos de: Transtorno Global do Desenvolvimento (31,25%); Transtornos do Comportamento e Transtornos Emocionais que Aparecem Habitualmente na Infância (8,5%); retardo mental (8,5%); Esquizofrenia, Transtornos Esquizotípicos e Transtornos delirantes (6,3%). No que diz respeito aos TGD, encontrou-se um quantitativo de 150 usuários, sendo 84% do sexo masculino. Os diagnósticos mais recorrentes foram os de Autismo Infantil (46%) e Autismo Infantil em comorbidade com Retardo Mental (24,7%). Dentre estes, um quantitativo considerável frequenta ou já frequentou simultaneamente outra instituição além do Capsi.

This study aimed to characterize the profile of patients diagnosed with Pervasive Developmental Disorder, attended in a Capsi which aims to offer mental health care for children and adolescents with severe and persistent mental disorders in Salvador (BA). It was made a descriptive exploratory study from a secondary data center Psychosocial Care of Children and Youth located in the city above. The analysis was performed considering two sets of variables, namely: a) variable on the customer: age, sex, diagnosis, b) variable related to the care offered: refers to the type of care in which the patient was engaged. It was found that the service in question has on its staff a total of 480 users, 72% were male, with greater expressiveness of diagnoses: Pervasive Developmental Disorder (31.25%); Behavior Disorders and Emotional Disorders that usually appear in Childhood (8.5%), mental retardation (8.5%); Schizophrenia, schizotypal and delusional disorders (6.3%). With regard to the TGD, it was found a quantity of 150 users, 84% were male. The most frequent diagnoses were those of Infantile Autism (46%) and Autism Children with comorbid mental retardation (24.7%). Among these, an considerably amount where already attended or have attended another institution beyond Capsi.

INCLEN Diagnostic Tool for Epilepsy (INDT-EPI) for Primary Care Physicians: Development and Validation.

Objective: To evaluate the diagnostic accuracy of a new diagnostic instrument for epilepsy – INCLEN Diagnostic Tool for Epilepsy (INDT-EPI) – with evaluation by expert pediatric neurologists. Study design: Evaluation of diagnostic test. Setting: Tertiary care pediatric referral centers in India. Methods: Children aged 2-9 years, enrolled by systematic random sampling at pediatric neurology out-patient clinics of three tertiary care centers were independently evaluated in a blinded manner by primary care physicians trained to administer the test, and by teams of two pediatric neurologists. Outcomes: A 13-item questionnaire administered by trained primary care physicians (candidate test) and comprehensive subject evaluation by pediatric neurologists (gold standard). Results: There were 240 children with epilepsy and 274 without epilepsy. The candidate test for epilepsy had sensitivity and specificity of 85.8% and 95.3%; positive and negative predictive values of 94.0% and 88.5%; and positive and negative likelihood ratios of 18.25 and 0.15, respectively. Conclusion: The INDT-EPI has high validity to identify children with epilepsy when used by primary care physicians.