Sexualidades diversas: guía de criterios orientativos para el abordaje de conductas afectivo-sexuales en personas con discapacidad intelectual / Diverse sexualities: guide of orientative criteria for the approach of affective-sexual behaviors in people with intellectual disabilities

Desde la óptica de la atención centrada en la persona, la normalización y de la integración como principios básicos desde los que se plantea la atención y el apoyo a las personas con discapacidad intelectual es necesario trabajar el tema de la sexualidad y relaciones interpersonales, como un elemento básico de los derechos de las personas. Por este motivo en las jornadas realizadas se ha impartido un taller de sexualidad en las personas con discapacidad basándonos en la Guía de los criterios orientativos para el abordaje de las conductas afectivo-sexuales de las personas con discapacidad intelectual, de la Fundación Purísima Concepción, con el objetivo de conocer la herramienta, hacer una experiencia práctica de su uso y generar una reflexión conjunta entre los profesionales de la institución (AU)

From the perspective of person-centered care, normalization and integration as basic principles from which care and support for people with intellectual disabilities are proposed, it is necessary to work on the issue of sexuality and interpersonal relationships, as a basic element of human rights. For this reason, in the sessions held, a workshop on sexuality was given to people with disabilities based on the Guide of the indicative criteria for addressing the affective-sexual behaviors of people with intellectual disabilities, of the Purísima Concepción Foundation, with the objective of knowing the tool, making a practical experience of its use and generating a joint reflection among the professionals of the institution

Problemas emocionales y de comportamiento en niños con discapacidad intelectual

Resumen Estudiar los problemas de comportamiento en los niños resulta complejo y más aún si presentan discapacidad intelectual, ya que se involucran diversos factores etiológicos: contextuales, genéticos, familiares, interaccionales; algunos de ellos pueden ser causa por sí mismos de psicopatología o aumentar el riesgo de psicopatología. Los objetivos de este trabajo fueron identificar problemas emocionales y de comportamiento en niños de 6 y 11 años con discapacidad intelectual de diferentes niveles socioeconómico (NSE) de Tucumán, Argentina. Segundo, analizar comportamientos internalizantes y externalizantes en niños con discapacidad intelectual y analizar si existen diferencias en los problemas emocionales y de comportamiento en función del contexto socioeconómico de los niños. Los hallazgos del presente estudio se relacionan con una mayor problemática comportamental y emocional en niños con discapacidad intelectual moderada referida a problemas de atención, sociales y de retraimiento. Además se encontró mayor problemática emocional en niños con discapacidad intelectual de niveles socioeconómico bajo de Tucumán.

Abstract Studying behavioral problems in children is complex, especially if they have an intellectual disability. The aetiology of such problems is diverse: context, genetics, family and interaction, and some of these factors can be themselves a cause of psychopathology or increase its risk. The aims were: to identify emotional and behavioural problems in 6-to-11-year-old children with intellectual disability from different socioeconomic levels (SEL) from Tucumán, Argentina; to analyse internalizing and externalizing behaviour in children with intellectual disability; and to analyse whether there were differences in emotional and behavioural problems depending on the children's SEL. The findings of this study can be related to greater emotional and behavioural problems in children who have a moderate intellectual disability associated with attention, shyness and social problems. In addition, greater emotional problems were found in children with intellectual disability of low socioeconomic levels from Tucumán.

Ensino de Futsal para Pessoas com Deficiência Intelectual1 / Teaching of Futsal for Intellectually Disabled People

RESUMO: este estudo teve como objetivo verificar os efeitos de um programa de ensino de Futsal para jovens e adultos com DI, centrado nas perspectivas táticas de ensino de jogos esportivos e coletivos (JEC), no desempenho das ações de jogo. A amostra foi composta por 11 alunos com DI, com idade entre 18 e 40 anos. Foram realizadas 30 intervenções, sendo ministradas duas aulas por semana com duração de 1h20min cada. Para análise dos dados foram realizadas filmagens de jogos formais com duração de oito minutos cada, antes e após o programa de intervenção, observando o número de execução das seguintes ações de jogo: progressão e/ou drible, passe, finalização, opção de passe, marcação atrás da bola, marcação individual, marcação atrasada - consideradas ações positivas - e finalização rifada, passe rifado, não atacar e não marcar - consideradas ações negativas. Como resultado, pode-se verificar que 9 alunos apresentaram maior número de ações ao término do programa, assim como aumento no número das ações positivas, enquanto apenas 2 alunos apresentaram frequência das ações de jogo semelhantes antes e após as intervenções. Como conclusão, acredita-se que um programa contextualizado nos JEC de invasão, sistematizado com base em um modelo de jogo que atenda as demandas dos alunos, abordando os conteúdos a partir das perspectivas táticas de ensino dos JEC, pode constituir um cenário bastante interessante para essa população.

ABSTRACT: The purpose of this paper was to investigate the impact of a Futsal education program for young adults and adults with ID, centered on teaching tactical proposals through Collective Sports Games, on the game actions performance. The sample was composed of 11 individuals with ID, aged between 18 and 40 years. The program was conducted over 30 classes, with 2 classes per week, each lasting 1 hour and 20 minutes. For purposes of data analysis, formal games, lasting 8 minutes during pre-intervention and post-intervention were video recorded, observing the frequency of the following game actions: moving forward with the ball and/or dribbling, passing the ball to other teammate, kicking towards the goal, positioning in pitch so as to be an option to receive a pass, marking between the forwards and the goal, man-to-man marking, late marking - all these classified as positive actions - and kicking the ball with no direction, making a pass with no direction, not attacking and not marking - all these were classified as negative. As a result, at the end of the program, it could be noted that 9 individuals showed an increase in frequency of actions, whereas only 2 individuals showed similar frequency of actions both before and after intervention, which means an enhance in the game engagement, as well as an increased number of positive actions. In conclusion, it is believed that a program based on strategic/tactical game model that meet the individuals' demands and that address content derived from tactical viewpoints of CSGs teaching can be a rather interesting scenario for this population.

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.

BACKGROUND: Mutations of SCN8A encoding the neuronal voltage-gated sodium channel NaV1.6 are associated with early-infantile epileptic encephalopathy type 13 (EIEE13) and intellectual disability. Using clinical exome sequencing, we have detected three novel de novo SCN8A mutations in patients with intellectual disabilities, and variable clinical features including seizures in two patients. To determine the causality of these SCN8A mutations in the disease of those three patients, we aimed to study the (dys)function of the mutant sodium channels. METHODS: The functional consequences of the three SCN8A mutations were assessed using electrophysiological analyses in transfected cells. Genotype-phenotype correlations of these and other cases were related to the functional analyses. RESULTS: The first mutant displayed a 10 mV hyperpolarising shift in voltage dependence of activation (gain of function), the second did not form functional channels (loss of function), while the third mutation was functionally indistinguishable from the wildtype channel. CONCLUSIONS: Comparison of the clinical features of these patients with those in the literature suggests that gain-of-function mutations are associated with severe EIEE, while heterozygous loss-of-function mutations cause intellectual disability with or without seizures. These data demonstrate that functional analysis of missense mutations detected by clinical exome sequencing, both inherited and de novo, is valuable for clinical interpretation in the age of massive parallel sequencing.

Caracterización clínica y etiológica de las diferentes discapacidades en el Estado Plurinacional de Bolivia, 2009-2010 / Clinical and etiological characterization of different disabilities in Estado Plurinacional de Bolivia, 2009- 2010

La discapacidad es una realidad humana percibida de manera diferente en diferentes períodos históricos y civilizaciones. El término, de uso frecuente, se refiere al funcionamiento individual e incluye discapacidad físico-motora, sensorial, visceral,cognitiva o intelectual, y discapacidad psíquica o mental. Objetivos: Identificar las frecuencias de los distintos tipos de discapacidad, así como las principales causas que la originaron. Métodos: Se realizó un estudio descriptivo transversal de todas las personas con discapacidaden el Estado Plurinacional de Bolivia,identificadas en el marco de la Misión Solidaria del ALBA Moto Méndez.Resultados: La discapacidad físicomotor, seguido de la intelectual,auditiva y la visual, fueron las más frecuentes,y las causas postnatales predominaronen el 63.3 por ciento de los casos, seguido delas prenatales.Conclusiones: Los accidentes constituyeron un serio problemasocial como factor postnatal.

Disability is a human reality perceived differently in different historical periods and civilizations. The following types of disabilities are described: intellectual, physical-motor, sensory, visceral, and psychological or mental. Objective: To identify the frequencies of the different types of disabilities as well as the main causes that led to it. Methods: A descriptive study of all people with disabilities in the State of Bolivia was performed, identified in the framework of Mision Solidaria del ALBA Moto Mendez. Results: Motor physical disability, followed by intellectual, auditory and visual, were the most frequent types, and postnatal causes predominated in 63.3 percent of cases, followed by prenatal. Conclusion: Accidents were a serious social problem as postnatal factor.