Caracterización clínica de niños, niñas y adolescentes atendidos en una unidad de neuropsicología de Medellín, Colombia / Clinical characterization of children and adolescents attended in a neuropsychology unit of Medellín, Colombia

Introducción. La neuropsicología es el estudio de los procesos cognoscitivos comportamentales y sus alteraciones cuando se encuentra presente un daño o disfunción cerebral. En el caso de la neuropsicología infantil, esta busca evaluar e intervenir los procesos cognitivos relacionados con el aprendizaje que influyen en el desempeño académico, social, familiar y adaptativo. Objetivo. Caracterización clínica de niños y adolescentes que consultaron en la unidad de neuropsicología del Instituto Neurológico de Colombia entre los años 2013 - 2018. Métodos. Investigación observacional, descriptiva y transversal para una sola muestra de pacientes. Se extrajeron 17.623 registros de pacientes menores de 18 años que consultaron al servicio de neuropsicología del Instituto Neurológico de Colombia. Se analizaron las variables de edad, sexo y diagnóstico, mediante análisis univariados y bivariados. Se empleó la Clasificación internacional de Enfermedades (CIE-10). Resultados. Los principales diagnósticos de la población infantil fueron perturbación de la actividad y de la atención (31.9%), trastorno mixto de las habilidades escolares (2.6%) y retraso mental leve: deterioro del comportamiento significativo que requiere atención o tratamiento (2.6%). Conclusiones. Estos resultados muestran los principales tipos de trastornos neuropsicológicos de la población perteneciente al departamento de Antioquia que consulta para valoración e intervención cognitiva, lo que favorece la implementación mecanismos de prevención, diagnóstico y tratamiento para la población infantil con alteraciones en el neurodesarrollo y sus familias, mejorando su funcionamiento social y escolar.

Introduction. Neuropsychology is the study of behavioral cognitive processes and their alterations when brain damage or dysfunction is present. In the case of childhood neuropsychology, it seeks to evaluate cognitive processes related to learning that influence academic, social, family and adaptive performance. Objective. Clinical characterization of children and adolescents who consulted in the neuropsychology unit of a Colombian Neurological Institute, between 2013 - 2018. Methods. Observational, descriptive and cross-sectional research for a single sample of patients. 17,623 records were extracted from patients under 18 who consulted the neuropsychology service of a neurological institute in the city. The variables of age, sex and diagnosis were analyzed, using univariate and bivariate analyses. The International Classification of Diseases (ICD-10) was used. Results. The main diagnoses of the child population were activity and attention disturbance (31.9%), a mixed disorder of school skills (2.6%), mild mental retardation: the significant decline of the behavior that requires attention or treatment. Conclusions. These results show the most frequent neuropsychologic diagnosis of the Antioquia department residents that consult for cognitive attention and treatment, this benefits the implementation of prevention, diagnosis and treatment mechanism for the infant population with neurodevelopment disturbance and their families, improving their social and school functioning.

Perfil de morbilidad en adolescentes chilenos con síndrome de Down / Morbidity profile among adolescents with Down syndrome

Background: There is a paucity of information about morbidity and mortality of adolescents with Down syndrome (DS). Aim: To describe morbidity and mortality of a cohort of Chilean adolescents with DS. Material and Methods: Review of electronic clinical records of 67 ambulatory patients with DS aged 10 to 20 years (37 women), seen between the years 2007 and 2014 in outpatient clinics of a University hospital. Results: The mean age at the last consultation was 13 ± 3 years. Ninety-eight percent of patients had a chronic condition: 37.1% where overweight or obese, 58.2% had a congenital heart disease, 11.9% where being evaluated or had the diagnosis of autism and 44.8% had hypothyroidism. Pubertal development was consistent with chronologic age in 93.7% of patients. In three patients puberty had been suppressed. In women, average age of menarche was 12.2 ± 1.1 years. There were no deaths reported. Conclusions: There was a high rate of comorbidities in this group of adolescents with DS, most of them with frequencies comparable to those reported in literature.

Fatty acid and phospholipase A2 plasma levels in children with autism / Níveis plasmáticos de ácidos graxos e fosfolipase A2 em crianças com autismo

OBJECTIVE: To evaluate fatty acid plasma levels, phospholipase A2 activity, and the developmental profiles of children with autism vs. control subjects. METHODS: Twenty four children with autism underwent laboratory analysis for fatty acid quantification using gas chromatography and PLA2 activity determination by fluorometric assay. RESULTS: No correlation was observed between the developmental quotient and fatty acid plasma levels. Phospholipase A2 activity was significantly higher among autistic children compared with controls. CONCLUSION: The study did not show a correlation between fatty acid and phospholipase A2 plasma levels and the developmental profile of children with autism

OBJETIVO: Avaliar os níveis plasmáticos de ácidos graxos, a atividade da fosfolipase A2 e o perfil de desenvolvimento de crianças com autismo versus controles. MÉTODOS: Vinte e quatro crianças com autismo foram submetidas a exames laboratoriais para quantificação plasmática de ácidos graxos por cromatografia gasosa e para determinação da atividade de fosfolipase A2 por ensaio fluorimétrico. RESULTADOS: Nenhuma correlação foi observada entre o coeficiente de desenvolvimento e os níveis plasmáticos dos ácidos graxos quantificados. A atividade da fosfolipase A2 foi significativamente maior no grupo de crianças com autismo quando comparado ao grupo controle. CONCLUSÃO: O estudo não demonstrou correlação entre os níveis plasmáticos de ácidos graxos e fosfolipase A2 e o perfil de desenvolvimento de crianças com autismo

Autismo infantil. Uma breve discussão sobre a clínica e o tratamento / Autism in childhood ? a brief discussion on its clinic and therapy

No presente artigo é realizada uma discussão sobre autismo infantil, enfatizando sua epidemiologia, etiologia, patogênese, manifestações clínicas, diagnóstico e tratamento.

High frequency of autistic traits in Williams-Beuren patients / Alta frequência dos traços de autismo em pacientes com síndrome de Williams-Beuren

Williams-Beuren syndrome is characterized by typical facies, supravalvular aortic stenosis, mental retardation, hyperacusis, and behavioral abnormalities with overfriendly personality and anxiety disorders. It is caused by a microdeletion of contiguous genes located in the 7q11.23 region. We studied 31 patients with the Williams-Beuren syndrome (19 men and 12 women), whose ages ranged from 9 to 26 years-old (median 14 years-old). The Williams-Beuren syndrome diagnosis was confirmed by FISH or microsatellite markers analysis in all patients. The objectives were to evaluate cognitive ability, verbal and total intelligence quotient execution, frequency of visual-spatial deficits, and autistic traits and to compare the results of molecular findings. The tests used were the WISC-III, WAIS-III, Rey Complex Figure and a scale of autistic traits. Their total intelligence quotient scores ranged from 51 to 86 (median of 63): 22 with mild mental retardation, 4 with moderate retardation, 4 classified as borderline and 1 as below average. All patients had marked visual-spatial deficit. The frequency of autistic traits was found in 13 of 31 patients (41.94%), with a predominance in males (ten men and three women). There was no correlation with the incidence of autistic traits in relation to the size of the deletion. This study reinforces the importance of the systematic assessment of cognitive function in Williams-Beuren syndrome patients, and it alerts researchers to the presence of a high frequency of autistic traits, as opposed to the overfriendly personality traits, which is typically showed by Williams-Beuren syndrome patients. These latter data are preliminary and further studies are necessary to confirm this specific finding in Williams-Beuren syndrome patients.

A síndrome de Williams-Beuren é caracterizada por fácies típicos, estenose aórtica supravalvar, retardo mental, hiperacusia e anormalidades comportamentais com personalidade amigável e distúrbios de ansiedade. É causada por microdeleção de genes contíguos localizados na região 7q11.23. Foram estudados 31 pacientes com a síndrome de Williams-Beuren (19 homens e 12 mulheres), cujas idades variaram de 9 a 26 anos (mediana de 14 anos). O diagnóstico da síndrome de Williams-Beuren foi confirmado pelo FISH (Fluorescence In Situ Hibridisation) ou por análise de marcadores microssatélites em todos os pacientes. Os objetivos foram: avaliar a capacidade cognitiva, o quociente de inteligência de execução verbal e total, a frequência de déficits visoespaciais, traços autistas; e comparar os resultados dos achados moleculares. Os testes utilizados foram: WISC-III, WAIS-III, Figuras Complexas de Rey e Escala de Traços Autísticos. Os pacientes apresentaram déficit cognitivo em todos os testes, o quociente de inteligência total variou de 51 a 86 (mediana de 63): 22 com deficiência mental leve, 4 com deficiência mental moderada; 4 limítrofes e 1 com média inferior. Os pacientes apresentaram déficit visoespacial. A frequência de traços autistas foi encontrada em 13 dos 31 pacientes (41,94%), com predomínio no sexo masculino (dez homens e três mulheres). Não foi encontrada correlação entre a presença de traços autísticos em relação ao tamanho da deleção. O presente estudo reforça a importância da avaliação sistemática da função cognitiva em pacientes com a síndrome de Williams-Beuren e alerta para a presença da alta frequência de traços autistas, que é o oposto da personalidade amigável tipicamente encontrada em pacientes com síndrome de Williams-Beuren. Estes últimos dados são preliminares e novos estudos serão necessários para confirmar este achado específico na síndrome de Williams-Beuren.

Frequency of symptoms of attention deficit and hyperactivity disorder in autistic children / Freqüência de sintomas de transtorno de déficit de atenção e hiperatividade em crianças autistas

Background: Both DSM-IV and the ICD-10 exclude diagnosis of attention deficit/hyperactivity disorder (ADHD) when autism diagnostic is present. Some authors suggest, however, that autism can be associated to other comorbidity amongst which the ADHD. Objective: To estimate prevalence of ADHD in children with autism. Method: Children were selected from a specialized school, all of then had previous diagnosis or diagnostic suspicion of autism. The Brazilian version of the KIDDIE-SADS PL was applied to parents for diagnostic of ADHD. DSM-IV diagnostic of autism was based on parents' interview and child observation. Results: 32 children were included in the study. Results show that 53.1 percent of the ASD child had ADHD symptoms enough to fulfill DSM-IV diagnostic criteria, whereas 56.9 percent did not fulfill DSM-IV criteria for ADHD. Conclusion: Results suggest a high frequency of ADHD symptoms in ASD patients. Elucidating if we are facing a comorbity or an autism distinct phenotype can contribute for a more adjusted pharmacotherapy approach for these children.

Tanto o DSM-IV quanto a CID-10 excluem o diagnóstico de transtorno de déficit de atenção e hiperatividade (TDAH) em pacientes autistas. A literatura, no entanto, sugere que o autismo pode estar associado a outras doenças, dentre elas o TDAH. Objetivo: Estimar a freqüência de sintomas de TDAH em autistas. Método: As crianças foram selecionadas de uma escola especializada em crianças com transtorno do espectro autista (TEA); todas tinham um diagnóstico ou suspeita diagnóstica prévia de autismo. O instrumento de avaliação aplicado para o diagnóstico de TDAH foi a versão brasileira do KIDDIE-SADS PL. O diagnóstico de autismo de acordo com os critérios do DSM-IV foi feito através de entrevista com os pais e observação da criança. Resultados: 32 crianças foram incluídas no estudo. Os resultados indicam que 53,1 por cento dos pacientes apresentaram sintomas compatíveis com o diagnóstico de TDAH e de autismo, enquanto que 56,9 por cento dos autistas não preenchiam critérios para TDAH. Conclusão: Os achados sugerem uma elevada freqüência de sintomas de TDAH em pacientes com autismo. Elucidar se estamos diante de uma comorbidade ou de um fenótipo diferente de autismo pode contribuir para uma melhor abordagem farmacoterápica dessas crianças.

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

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

Questões sobre a alteridade no autismo infantil / Questions about otherness in infantile autism / Cuestiones sobre la alteridad en el autismo infantil

Apesar das controvérsias, desde sua invenção o autismo é caracterizado como um prejuízo severo do laço com a alteridade. Com o conceito de Outro, recolocamos a pergunta sobre a alteridade no autismo: essa condição subjetiva decorreria da ausência de relação ou da presença de um laço específico com o Outro? A posição autista parece-nos implicar uma tentativa de se proteger do verbo, do campo da linguagem, sendo determinada por um laço específico com um Outro invasivo, que traz a ameaça de tomar os autistas completamente em seu gozo absoluto.

Since its invention, despite some controversy, autism has usually been characterized as a severe damage to the bond between the autistic child and the otherness. In this work, we discuss otherness in autism by means of the concept of Other: would this subjective condition come from the absence of a relationship with the Other or from the presence of a specific bond with the Other? It seems to us that the autistic situation implies an attempt of protecting oneself from the verb, from the field of language. As a consequence, autism becomes determined by a specific bond to an invasive Other, who threatens to swallow the autistic children in its absolute jouissance.

Desde su invención, pese a las controversias, el autismo es caracterizado como un déficit severo del lazo con la alteridad. Con el concepto de Otro, reinstalamos la pregunta sobre la alteridad en el autismo: ¿Esa contradicción subjetiva sucedería de la ausencia de relación o de la presencia de un lazo específico con el Otro? La posición autista parece implicar un intento de resguardarse del verbo, del campo del lenguaje, siendo determinada por un lazo específico con un Otro invasivo, que amenaza sujetar completamente los autistas a un goce absoluto.

Autism: an overview of genetic aetiology

Autism is a pervasive developmental disorder characterised by impairment in social interaction and in communication, with unusual behaviour. Genetic factors are predominant in autism pathogenesis. Interactions between multiple genes cause [idiopathic] autism but epigenetic factors and exposure to environmental modifiers may contribute to variable expression of autism-related traits. The genetic polymorphism and the phenotypic heterogeneity make the autism a complex disorder to study. Genetic research on families with multiple affected children and biochemical mechanisms studies represent the sources for identifying the susceptibility genes in autism. Children with dysmorphic features, congenital anomalies, mental retardation, or family members with developmental disorders are those most likely to benefit from extensive medical testing and genetic consultation

Of Rain Men and Snowcakes : the Presentation; Pathology; Aetiology and Management of Autistic Spectrum Disorder

Over the past two decades; both the prevalence and our understanding of autism have increased exponentially. Autism encompasses a group of behaviourally defined develop- mental disorders; collectively known as autism spectrum disorder (ASD); which appear to be caused by the impact of environment during early life on genetically induced susceptibility. As paediatricians are consulted first by most parents of children with developmental delay; they should be able to discuss the pathology; aetiology and manage- ment of the disorder. Although much remains to be understood; research over the last 20 years has shown that this disorder is treatable; and that early medical/biomedical and behavioural intervention greatly improves the quality of life and outcomes of children with ASD

Do autistic children have higher levels of caries? A cross-sectional study in Turkish children.

The aim of this study is to assess whether the dental caries experience is higher in children with an autistic disorder (AD) than in normal children. Three schools for autistic children and three standard elementary schools in Istanbul, Turkey, were included in a cross-sectional study. Subjects were orally examined. Socio-demographic information and data about their oral care habits were obtained from their parents from records. Sixty-two children with AD and 301 children without AD were examined. Their ages varied between 6 and 12 years. Children with AD compared to those without AD had lower experience of caries. Logistic regression analysis of DMFT showed that the dental status was positively affected in younger children (OR = 15.57; 95% CI 7.62, 31.80), children from families with high income (OR = 5.42; 95% CI 2.31, 12.75), children brushing teeth regularly (OR = 2.01, 95% CI 1.10, 3.68), children consuming less sugar (OR = 5.01; 95% CI 2.57, 9.76) and in those with AD (OR=3.99; 95% CI 1.56, 10.19). Children with AD had better caries status than children without AD at younger ages.

El timerosal y las enfermedades del neurodesarrollo infantil / Thimerosal and children's neurodevelopmental disorders

Se evalúa la relación causal entre el timerosal (etilmercurio), como preservante en las vacunas pediátricas, y el incremento de casos de enfermedades del neurodesarrollo infantil, como consecuencia de la ampliación de los esquemas de inmunización. Se revisó la información científica, relacionando el timerosal y las evidencias que permitan evaluar una posible asociación causal, con estudios epidemiológicos, ecológicos, biomoleculares y toxicológicos, de bioseguridad, toxicológicos fetales y sobre salud reproductiva. Se encontró múltiples asociaciones entre la exposición a timerosal y las enfermedades del neurodesarrollo infantil. Tal neurotoxicidad ocurre en los infantes y fetos de gestantes vacunadas por dosis acumulativa de mercurio. Las diversas evidencias implican al timerosal como el agente causante, agravante o disparador de las enfermedades del neurodesarrollo infantil. La toxicidad del mercurio obligó al retiro progresivo del timerosal de los medicamentos. Lamentablemente, en las vacunas, ha habido una sustancial demora en la demostración de su impacto negativo. Actualmente, existen vacunas sin timerosal, cuyo uso está ocasionando la disminución de la incidencia de las enfermedades del neurodesarrollo infantil.

The causal relation of thimerosal (ethylmercury), preservative in pediatric vaccines, and the increase of childrenÆs neurodevelopmental disorders as a result of the increase in immunization schemes is determined. The scientific information on thimerosal and its influence on the childÆs neurodevelopmental disorders is reviewed. Evidences found in epidemiological, ecological, biomolecular, toxicology, biosecurity, fetal toxicology and reproductive health studies signal the possible causal association of thimerosal exposition and neurodevelopmental disorders of the child. Such neurotoxicity occurs in infants and fetuses of vaccinated pregnant women, due to mercury cumulative doses. The various evidences imply thimerosal as the causal agent, aggravating or triggering neurodevelopmental disorders of the child. The mercury toxicity forced progressive thimerosal withdrawal. Unfortunately, there was a delay in demonstrating thimerosal negative impact Currently vaccines without thimerosal are causing less incidence of childrenÆs neurodevelopmental disorders.

Autismo e síndrome de Asperger: uma visão geral / Autism and Asperger syndrome: an overview

Autismo e síndrome de Asperger são entidades diagnósticas em uma família de transtornos de neurodesenvolvimento nos quais ocorre uma ruptura nos processos fundamentais de socialização, comunicação e aprendizado. Esses transtornos são coletivamente conhecidos como transtornos invasivos de desenvolvimento. Esse grupo de condições está entre os transtornos de desenvolvimento mais comuns, afetando aproximadamente 1 em cada 200 indivíduos. Eles estão também entre os com maior carga genética entre os transtornos de desenvolvimento, com riscos de recorrência entre familiares da ordem de 2 a 15 por cento se for adotada uma definição mais ampla de critério diagnóstico. Seu início precoce, perfil sintomático e cronicidade envolvem mecanismos biológicos fundamentais relacionados à adaptação social. Avanços em sua compreensão estão conduzindo a uma nova perspectiva da neurociência ao estudar os processos típicos de socialização e das interrupções específicas deles advindas. Esses processos podem levar à emergência de fenótipos altamente heterogêneos associados ao autismo, o paradigmático transtorno invasivo de desenvolvimento e suas variantes. Esta revisão foca o histórico, a nosologia e as características clínicas e associadas aos dois transtornos invasivos de desenvolvimento mais conhecidos - o autismo e a síndrome de Asperger.

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

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