La superación del profesor de Educación Física para desarrollar la autodeterminación, en educandos con discapacidad intelectual

La superación continua de los profesores de Educación Física constituye una necesidad que ha transcendido diferentes generaciones de docentes, determinada por el desarrollo creciente de la ciencia y la técnica, las exigencias del tercer perfeccionamiento educacional cubano, las demandas en la preparación y capacitación del profesorado y la necesidad de su incidencia en la formación de un egresado apto y capaz de desarrollar no solo habilidades y capacidades físicas, sino también para la vida, que les permitan actuar en el medio social, familiar y laboral. El objetivo de esta investigación consistió en diseñar una estrategia pedagógica de superación para transformar los modos de actuación de los profesores de Educación Física, en la dirección del proceso de enseñanza-aprendizaje, en función del desarrollo de habilidades de autodeterminación en los educandos en situación de discapacidad intelectual. Los métodos investigativos utilizados en el orden teórico y empírico fueron el análisis y síntesis, el histórico-lógico, el inductivo-deductivo, la modelación y el sistémico-estructural-funcional; además de la entrevista, la observación, la encuesta, el análisis de documentos, el criterio de expertos y la triangulación múltiple, los que permitieron revelar las causales que inciden en el normal desarrollo de las habilidades de autodeterminación, así como elaborar la estrategia. Con su implementación se perfeccionó el desempeño profesional y personal de los profesores y los educandos, quienes egresaron con el empoderamiento de habilidades para la toma de decisiones, la realización de elecciones, la resolución de problemas y el establecimiento de metas y objetivos.

O aperfeiçoamento contínuo dos professores de Educação Física constitui uma necessidade que transcendeu as diferentes gerações de professores, determinada pelo crescente desenvolvimento da ciência e da tecnologia, pelas exigências do terceiro melhoramento educacional cubano, pelas exigências na preparação e formação de professores e pela necessidade de seu impacto na formação de um egresso qualificado, capaz de desenvolver não apenas competências e habilidades físicas, mas também para a vida, que lhe permitam atuar no ambiente social, familiar e de trabalho. Discapacidade intelectual. Os métodos investigativos utilizados na ordem teórica e empírica foram análise e síntese, histórico-lógico, indutivo-dedutivo, modelagem e sistêmico-estrutural-funcional; Além da entrevista, observação, inquérito, análise documental, peritagem e triangulação múltipla, que permitiram revelar as causas que afetam o normal desenvolvimento das competências de autodeterminação, bem como desenvolver a estratégia. Com a sua implementação melhorou-se o desempenho profissional e pessoal de professores e alunos, que se formaram com a capacitação de competências para tomar decisões, fazer escolhas, resolver problemas e estabelecer metas e objetivos.

The continuous improvement of Physical Education teachers constitutes a need that has transcended different generations of teachers, determined by the growing development of science and technology, the demands of the third Cuban educational improvement, the demands in the preparation and training of teachers and the need for its impact on the training of a qualified graduate capable of developing not only physical skills and abilities, but also for life, which allow them to act in the social, family and work environment. The objective of this research was to design a pedagogical improvement strategy to transform the modes of action of Physical Education teachers, in the direction of the teaching-learning process, based on the development of self-determination skills in students in situations of intellectual disability. The investigative methods used in the theoretical and empirical order were analysis and synthesis, historical-logical, inductive-deductive, modeling and systemic-structural-functional; In addition to the interview, observation, survey, document analysis, expert judgment and multiple triangulations, which allowed us to reveal the causes that affect the normal development of self-determination skills, as well as to develop the strategy. With its implementation, the professional and personal performance of teachers and students was improved, who graduated with the empowerment of skills for making decisions, making choices, solving problems and establishing goals and objectives.

Percepciones maternas sobre la sexualidad como tabú en personas con discapacidad

Fundamento: Una persona con discapacidad además de las barreras físicas enfrenta limitaciones sexuales, afectados por estereotipos sociales de diversa índole. Objetivo: Analizar las percepciones maternas sobre la sexualidad como un tabú para las personas que tienen algún tipo de discapacidad física o intelectual. Metodología: Estudio cualitativo con enfoque fenomenológico; se entrevistaron 100 madres, las cuales tienen familiares con discapacidad intelectual y física. Se analizó su sexualidad como tabú, y en función de ello varios subtemas y códigos de análisis. Se empleó la entrevista, procesada con Atlas. Resultados: Se observó que algunas personas con discapacidad tienen pérdida del deseo sexual; y sus familiares el sexo lo conceptualizan y lo relacionan con la prostitución. A muchos de ellos los esterilizan sin su consentimiento con la idea de que no serían capaces de ser responsables de formar una familia, o que los hijos tengan la misma discapacidad que sus progenitores. Conclusiones: Existe rechazo social a las personas con discapacidad, todavía no hay una inclusión total a la sociedad y peor aún a sus derechos de sexualidad. A las personas con discapacidad en ocasiones se les ha privado de las decisiones corporales de control natal por prejuicios y miedos de sus familiares por factores hereditarios; idea esta muy presente en el contexto estudiado; por ello, el sexo es un tabú para las madres entrevistadas de personas con discapacidad.

Background: A disabled person faces sexual limitations in addition to physical barriers, affected by various kinds of social stereotypes. Objective: To analyze maternal perceptions about sexuality as a taboo for persons who have some physical or intellectual disability. Methodology: Qualitative study with a phenomenological approach; 100 mothers were interviewed, all of whom have relatives with intellectual and physical disabilities. Their sexuality as a taboo was analyzed, and, in function of this, several sub-themes and analyses codes. The interview, processed with Atlas, was applied. Results: It was observed that some disabled persons have sexual desire loss, and their family members conceptualize sex and relate it with prostitution. Many of them are sterilized without their consent with the idea that they would not be capable to be responsible for raising a family, or that the children have the same disability as their parents. Conclusions: There is social rejection for people with disabilities; there is still no total inclusion in society and even worse to their sexuality rights. Persons with disabilities have on occasion been deprived of bodily birth control decisions because of prejudices and fears of their family members due to hereditary factors, this idea is very present in the studied context; therefore, sex is a taboo for the interviewed mothers of disabled persons.

Quality of life in Down syndrome in Brazil: a cross-sectional study / Qualidade de vida na síndrome de Down no Brasil: um estudo transversal

Abstract Background Down syndrome is the most commonly genetic cause of developmental delay and intellectual disability, affecting 1:700 live births. It is associated with heart disease and recurrent infections, among other complications that greatly impair the patient's quality of life. Objective To evaluate the major factors associated with quality of life in a cohort of patients with Down syndrome. Methods We assessed 1,187 patients with Down syndrome, older than 4 years old, with an adaptation of the Personal Outcomes Scale validated for Portuguese language, interviewing patients, parents, and caregivers. Results A bad quality of life was reported in 56.4% of the sample. The main factors associated with better quality of life were female sex, first medical visit before 4 months old, higher parental education, a professionally active mother, and prenatal care. The main factors associated with worse quality of life were family history of alcohol abuse and psychiatric disorders and comorbidity with autism and epilepsy. Conclusion Clinical comorbidities such as autism and epilepsy carry a heavy burden among patients with Down syndrome, while factors related to family support, such as employment status and educational background of the parents, enhance quality of life. The factors associated with quality of life among patients with Down syndrome should be adequately evaluated in medical consultation and targeted in public health policies.

Resumo Antecedentes A síndrome de Down é a mais comum causa identificável de atraso de desenvolvimento e deficiência intelectual, afetando 1 a cada 700 nascidos vivos. Está associada a cardiopatias, infecções recorrentes e outras complicações que impactam significativamente a qualidade de vida dos pacientes. Objetivo Avaliar os principais fatores associados a qualidade de vida em uma coorte de pacientes com Síndrome de Down. Métodos Avaliamos 1.187 pacientes com síndrome de Down com mais de 4 anos de idade utilizando uma adaptação da versão validada para o português da Escala Pessoal de Resultados, entrevistando pacientes, pais e cuidadores. Resultados Uma má qualidade de vida foi encontrada em 56.4% da amostra. Os principais fatores associados à melhor qualidade de vida foram sexo feminino, primeira consulta médica antes dos 4 meses de idade, maior nível educacional dos pais, mãe profissionalmente ativa e atenção pré-natal. Os principais fatores associados à pior qualidade de vida foram o histórico familiar de abuso de álcool e distúrbios psiquiátricos, além de comorbidade com autismo e epilepsia. Conclusão As comorbidades clínicas como autismo e epilepsia levam a um maior impacto entre os pacientes com síndrome de Down, enquanto fatores relacionados ao apoio familiar, como situação profissional e formação educacional dos pais, estão associados à melhor qualidade de vida. Os fatores associados à qualidade de vida de pacientes com síndrome de Down devem ser adequadamente avaliados em consulta médica e alvo de políticas públicas de saúde.

Social skills, behavioral problems, and academic competence of students with intellectual disabilities / Habilidades sociais, problemas de comportamento e competência acadêmica de alunos com deficiência intelectual / Habilidades sociales, problemas de conducta y competencia académica de estudiantes con discapacidad intelectual

This study had as general objective to characterize and associate social skills, behavior problems, and academic competence of students with intellectual disabilities in school inclusion and; as specific objectives to verify predictive values for social skills and differences between groups diagnosed with intellectual disability and other associated diagnoses. This was a quantitative, cross-sectional, descriptive, correlational, predictive, and comparative study. Forty-four students with intellectual disability participated (11 of them presented other associated diagnoses), who were evaluated by 42 guardians and 34 teachers. The instruments used were Social Skills Rating System (SSRS-BR) and the Parental Educative Social Skills Interview Script (RE-HSE-P). The evaluation from guardians and teachers were different. Social skills were negatively associated with behavior problems and positively associated with academic competence; behavior problems and diagnosis were negative predictors to social skills. There were significant differences in the groups. The results highlight the importance of intervention programs to develop social skills.(AU)

O estudo teve como objetivo geral caracterizar e associar habilidades sociais, problemas de comportamento e competência acadêmica de alunos com deficiência intelectual em inclusão educacional e; como objetivos específicos verificar valores preditivos para habilidades sociais e diferenças entre grupos com diagnóstico de deficiência intelectual somente e com outros diagnósticos associados. Trata-se de um estudo quantitativo, transversal, descritivo, correlacional, preditivo e comparativo. Participaram 44 alunos com deficiência (11 apresentavam outros diagnósticos associados), que foram avaliados por 42 responsáveis e 34 professoras. Os instrumentos utilizados foram Social Skills Rating System (SSRS-BR) e Roteiro de Entrevista de Habilidades Sociais Educativas Parentais (RE-HSE-P). A avaliação de responsáveis e professores foi diferente. Habilidades sociais foram negativamente associadas aos problemas de comportamento e positivamente associadas a competência acadêmica; problemas de comportamento e diagnósticos associados foram preditores negativos de habilidades sociais. Houve diferença significativa entre grupos. Resultados evidenciam a importância de programas para promoção de habilidades sociais.(AU)

Este estudio tuvo como objetivo general caracterizar y asociar las habilidades sociales, los problemas de conducta y la competencia académica de estudiantes con discapacidad intelectual en la inclusión escolar; y como objetivos específicos verificar los valores predictivos de las habilidades sociales y las diferencias entre grupos diagnosticados con discapacidad intelectual y otros diagnósticos asociados. Se trató de un estudio cuantitativo, transversal, descriptivo, correlacional, predictivo y comparativo. Participaron 44 estudiantes con discapacidad intelectual (11 de ellos presentaban otros diagnósticos asociados), quienes fueron evaluados por 42 tutores y 34 docentes. Los instrumentos utilizados fueron el Sistema de Evaluación de Habilidades Sociales (SSRS-BR) y el Guion de Entrevista de Habilidades Sociales para Educación de los Padres (RE-HSE-P). Las evaluaciones de los tutores y docentes fueron diferentes. Las habilidades sociales se asociaron negativamente con problemas de conducta y positivamente con la competencia académica; los problemas de conducta y el diagnóstico fueron predictores negativos de las habilidades sociales. Hubo diferencias significativas entre los grupos. Los resultados destacan la importancia de los programas de intervención para desarrollar habilidades sociales con la población estudiada.(AU)

Concepción teórico-metodológica para el desarrollo de la coordinación en educandos con discapacidad intelectual leve

La discapacidad intelectual leve provoca un lento aprendizaje de las habilidades motrices, en particular de la coordinación, y se considera que esta problemática precisa de atención. En las clases de Educación Física se observó que los educandos con discapacidad intelectual leve presentaron alteraciones en las capacidades coordinativas motoras, posturales, sensoriales y en las conductas de adaptación a los diferentes contextos como la casa, la institución educativa y la comunidad; por lo que se planteó como objetivo desarrollar la coordinación en los educandos de siete a ocho años, mediante juegos motrices en las clases de Educación Física. El estudio que se presenta, se sustentó en la complementariedad metodológica al combinarse los enfoques cualitativo y cuantitativo; se emplearon métodos teóricos como el analítico-sintético, el sistémico-estructural-funcional, el histórico-lógico y el inductivo-deductivo y métodos empíricos como la observación, la entrevista, la encuesta y el experimento. Como resultado, se realizó la sistematización teórica, el diagnóstico y la propuesta de juegos motrices acorde con la edad y la discapacidad intelectual leve que se manifiesta en el desarrollo de la conducta motriz y en las relaciones de actuación de los educandos. De manera general, se constató una mejor coordinación y desarrollo de las habilidades para realizar los diferentes ejercicios y juegos motrices en las clases de Educación Física.

A deficiência intelectual leve causa uma aprendizagem lenta das habilidades motoras, particularmente da coordenação, e considera-se que esse problema precisa de atenção. Nas aulas de Educação Física, observou-se que os alunos com deficiência intelectual leve apresentavam alterações nas habilidades de coordenação motora, postural e sensorial e no comportamento de adaptação a diferentes contextos, como a casa, a instituição de ensino e a comunidade; portanto, o objetivo foi desenvolver a coordenação em alunos de sete a oito anos de idade, por meio de jogos motores nas aulas de Educação Física. O estudo aqui apresentado baseou-se na complementaridade metodológica, combinando abordagens qualitativas e quantitativas; foram utilizados métodos teóricos como o analítico-sintético, o sistêmico-estrutural-funcional, o histórico-lógico e o indutivo-dedutivo, bem como métodos empíricos como observação, entrevista, pesquisa e experimento. Como resultado, foram realizados a sistematização teórica, o diagnóstico e a proposta de jogos motores de acordo com a idade e a deficiência intelectual leve que se manifesta no desenvolvimento do comportamento motor e nas relações de desempenho dos alunos. Em geral, observou-se uma melhor coordenação e desenvolvimento de habilidades para realizar os diferentes exercícios e jogos motores nas aulas de Educação Física.

Mild intellectual disability causes slow learning of motor skills, particularly coordination, and this problem is considered to require attention. In Physical Education classes, it was observed that students with mild intellectual disabilities presented alterations in motor, postural, sensory coordinative capacities and in adaptation behaviors to different contexts such as home, the educational institution and the community; for this reason, the objective was to develop coordination in students from seven to eight years of age, through motor games in Physical Education classes. The study presented was based on methodological complementarity by combining the qualitative and quantitative approaches; theoretical methods such as the analytical-synthetic, the systemic-structural-functional, the historical-logical and the inductive-deductive and empirical methods such as observation, interview, survey and experiment were used. As a result, the theoretical systematization, the diagnosis and the proposal of motor games according to age and mild intellectual disability that manifests itself in the development of motor behavior and in the relations of action of the students were carried out. In general, there was a better coordination and development of skills to perform the different exercises and motor games in Physical Education classes.

Consanguinidad no declarada en pacientes peruanos con trastorno del neurodesarrollo detectada a través de micromatrices

Introducción. La consanguinidad es la unión entre personas que comparten un ancestro en común, y cuya descendencia presenta un mayor riesgo de aparición de enfermedades autosómicas recesivas, manifestándose en algunos pacientes como trastornos del neurodesarrollo. Objetivos. Describir la consanguinidad parental no declarada en pacientes menores de 18 años con trastornos del neurodesarrollo, descubierta mediante el análisis cromosómico por micromatrices. Métodos. Se realizó el análisis cromosómico por micromatrices a 967 pacientes con trastorno del neurodesarrollo entre 2016 y 2021. Fueron seleccionados los pacientes con regiones de homocigosidad (ROH) con un valor superior a 0,5%. Resultados. Se evaluó a 288 pacientes, el 58,3% fueron varones y el 29,8% presentó una ROH mayor o igual a 0,5%. Se encontró que el 25,9% y el 0,83% de los pacientes tenían padres con un quinto y primer grado de consanguinidad no declarada, respectivamente. Los departamentos con mayor frecuencia relativa de consanguinidad no declarada por cada 10 000 habitantes fueron Huancavelica, Cajamarca y Apurímac. Conclusión. En Perú, existen regiones donde se evidencia uniones parentales consanguíneas, el cual es un factor de riesgo alto para la aparición de enfermedades recesivas autosómicas en su descendencia, como los trastornos del neurodesarrollo.

Introduction. Consanguinity is the union between people who share a common ancestor, and whose offspring have a higher risk of autosomal recessive diseases, manifesting in some patients as neurodevelopmental disorders. Objectives. To describe non-declared parental consanguinity of patients under 18 years of age with neurodevelopmental disorders, discovered by chromosomal microarray analysis. Methods. Chromosomal microarray analysis was performed on 967 patients with neurodevelopmental disorders between the years 2016-2021 and were selected to patients with regions of homozygosity (ROH) with a value greater than 0.5%. Results. 288 patients were evaluated, 58.3% of the patients were male and 29,8% presented an ROH greater than or equal to 0.5%. We found 25.9% and 0.83% of the patients had their parents of a fifth and first degree of consanguinity not previously declared, respectively. The most frequent neurodevelopmental disorder was delayed psychomotor development with 38.2%. The departments with the highest frequency relative of non declared consanguinity were Huancavelica, Cajamarca y Apurimac. Conclusions. In Peru, non-declared parental consanguinity is frequent, which is a high-risk factor for the appearance of autosomal recessive diseases in their offspring, how neurodevelopment disorders.

Introducción al filtrado, análisis y curación de variantes genéticas en pacientes con Discapacidad Intelectual / Introduction to filtering, analysis and curation of genetic variants in patients with Intellectual Disability

Resumen Actualmente la secuenciación del exoma completo (WES; Whole-exome sequencing) mediante la técnica NGS (Next-generation sequencing) es uno de los estudios genéticos más solicitados dentro del abordaje de pacientes con Discapacidad Intelectual con o sin otras anomalías. Al igual que con otros proce dimientos y estudios clínicos, es conveniente que los médicos prescriptores tengan una comprensión clara de los alcances y limitaciones del uso de WES, del proceso de análisis de las variantes genéticas identificadas, así como de aspectos a evaluar acerca de la calidad y estructura de los informes de los estudios de NGS, con el objetivo de que puedan interpretar mejor los resultados de un estudio y plantear de la mejor manera la correlación de los mismos con la clínica observada.

Abstract Currently, Whole exome sequencing (WES) using NGS (Next-generation sequencing) technology is one of the most requested genetic studies within the approach of patients with intellectual disability with or without other anomalies. As with other procedures and clinical studies, it is convenient for prescribing physicians to have a clear understanding of the scope and limitations of the use of WES, the analysis process of the genetic variants identified, as well as aspects to be evaluated regarding quality and structure of the reports of the NGS studies, with the aim that they can better interpret the results of a study, evaluate its quality, and propose in the best way the correlation of the same with the observed phenotype.

Cognitive Function in Children With ?-Thalassemia Major

Objectives: To assess intelligence Quotient (IQ) in transfusion dependent ?-thalassemia major patients using Malin Intelligence Scale for Indian Children (MISIC) and to correlate verbal IQ (VIQ), performance IQ (PIQ) and full scale IQ (FSIQ) with serum ferritin levels and annual blood transfusion requirements. Methods: Cross-sectional study design, enrolling 100 patients of transfusion-dependent ?-thalassemia aged 6 years to 15 years 11 months. IQ was assessed using MISIC. Results: Mean (SD) full scale IQ was 95.96 (7.23). IQ was ‘average’ in most of the patients. There was a significant negative correlation of serum ferritin levels with object assembly (r=-0.215, P=0.034) component of PIQ; annual blood requirement with general comprehension component of VIQ (r=-0.275, P=0.006) and age at diagnosis with PIQ (r=-0.273, P=0.006). There was a significant linear correlation of PIQ (r=0.280, P=0.005) and FSIQ (r=0.274, P=0.006) with pre-transfusion hemoglobin. Conclusion: IQ correlates with age at diagnosis and average annual pre-transfusion hemoglobin. This highlights the importance of early diagnosis and maintenance of satisfactory hemoglobin levels

Reproductive rights of women with intellectual disability in India.

The reproductive rights of women with intellectual disability (WID) are a matter of concern for all stakeholders, including the woman herself, caregivers, guardians and her treating physicians. The judicial system often calls upon psychiatrists to opine regarding the “capacity to consent” of a WID to procedures such as medical termination of pregnancy and permanent sterilisation. Apart from physical and obstetric examinations, assessment of mental status and intelligence quotient (IQ) are also carried out to facilitate an understanding of the above issue. The Rights of Persons with Disabilities Act, 2016, (RPwD) and the Mental Healthcare Act, 2017, elucidate what constitutes free and informed consent as well as how to assess capacity. The assessment process of “capacity to consent” to reproductive system procedures among WID is important and can guide clinicians. Before assessing capacity, the treating physicians should educate a WID with appropriate information on the proposed procedure, its risks and benefits through various means of communication and then evaluate the “capacity to consent” to the procedure. This article summarises the provisions of the existing legislations on the reproductive rights of WID and puts forward guidance for clinicians on how to approach the issue.

Psychometric properties of the needs scale for families of adults with intellectual disabilities, Colombian version

Aim: Assess the psychometric properties of reliability and validity of the Family Needs Assessment (FNA) questionnaire designed for adults in Colombia. Conducting research studies to validate the FNA questionnaire in other contexts and age groups is important. Methods: Five hundred fifty-four caregivers of adults with intellectual disabilities participated in the study (298 men and 256 women). The ages of the individuals with disabilities ranged from 18 to 76 years. The authors carried out the linguistic adaptation of the items and cognitive interviews to identify if the items evaluated what was intended. A pilot test with 20 participants was also conducted. An initial confirmatory factor analysis was carried out. Given that, this analysis did not show a good adjustment of the theoretical model initially proposed, an exploratory factor analysis was carried out to elucidate the most appropriate structure for the Colombian population.. Results: The factor analysis found five factors, each with a high ordinal alpha (Caregiving and family interaction, social interaction and future planning, Economy, and recreation, independent living skills or autonomy, and Services related to disability). Of the 76 items, 59 were preserved, which had a factorial load greater than 0.40; and 17 were left out because they did not meet this requirement.. Conclusion: Future research considers corroborating the five factors found and establishing their clinical applications. Concerning the concurrent validity, the families perceive that high need for social interaction and future planning and little support for the person with an intellectual disability.

Objetivo: Evaluar las propiedades psicométricas de confiabilidad y validez del cuestionario FNA versión adultos en Colombia. Se justifica realizar investigaciones que validen el cuestionario FNA (Family Needs Assessment) en otros contextos y grupos etarios. Métodos: Participaron 554 cuidadores de adultos con discapacidad intelectual (madres, padres o cuidadores). La edad de la persona con discapacidad osciló entre 18-76 años, 298 hombres y 256 mujeres. Se realizó la adaptación lingüística de los ítems, entrevistas cognitivas para identificar si los ítems evaluaban lo que se pretendía, y una prueba piloto a 20 participantes. Se llevó a cabo el análisis factorial confirmatorio, dado que éste no evidenció un buen ajuste del modelo teórico inicialmente propuesto, se realizó un análisis factorial exploratorio para dilucidar la estructura propia para Colombia. Resultados: El análisis factorial encontró cinco factores cada uno con un alfa ordinal alto (Cuidado e interacción familiar, Interacción social y planeación de futuro, Economía y recreación, habilidades de vida independiente y autonomía y Servicios relacionados con la discapacidad). De los 76 ítems se conservaron 59, aquellos que tuvieron una carga factorial superior a 0.40; y se eliminaron 17 debido a que no cumplieron este requis. Conclusión: En el campo investigativo, los cinco factores encontrados se deben corroborar en estudios posteriores, así como, establecer sus aplicaciones clínicas. En cuanto a la validez concurrente, las familias perciben que alta necesidad en Interacción social y planeación del futuro y poco apoyo a la persona con discapacidad intelectual en este aspecto.

Encontro de mulheres poderosas: estratégia de intervenção em terapia ocupacional social com cuidadoras informais de pessoas com deficiência intelectual / Meeting of powerful women: social occupational therapy intervention strategy with informal caregivers of people with intellectual disabilities

Resumo Objetivo Este trabalho analisa a experiência de um grupo denominado "Encontro de Mulheres Poderosas" desenvolvido por terapeutas ocupacionais em um Serviço de Convivência e Fortalecimentos de Vínculos da Proteção Social Básica do Sistema Único de Assistência Social, com mulheres cuidadoras informais de pessoas com deficiência intelectual. Método Trata-se de estudo retrospectivo, de caráter exploratório e descritivo, com base em análise documental dos relatos das participantes do grupo, onde foram realizadas consultas a fontes diversificadas como relatórios desenvolvidos durante as intervenções, banco de imagens e diários de campo da análise. Os dados foram interpretados através dos pressupostos teóricos e metodológicos da Terapia Ocupacional Social. Resultados As intervenções, por meio de rodas de conversa, oficinas de atividades temáticas e um ensaio fotográfico, promoveram um espaço de reflexão e exercício do protagonismo feminino e o fortalecimento da rede de suporte e da participação social. Foram abordadas temáticas de gênero a partir do cotidiano e das experiências de vida das participantes como: sobrecarga, machismo, crenças socioculturais, sexualidade e objetificação do corpo feminino. Conclusões O grupo propiciou o fortalecimento de vínculos e a criação de redes de suporte social e a (re)construção de projetos de vida que valorizaram outros papéis ocupacionais, favorecendo a desconstrução da figura estrita de mulher-mãe-cuidadora.

Abstract Objective This paper analyzes the experience of a group called "Meeting of Powerful Women" developed by occupational therapists in a Service for Coexistence and Strengthening of Bonds of Basic Social Protection of the Unified Social Assistance System, with women who are informal caregivers of people with intellectual disabilities. Method This is a retrospective, exploratory and descriptive study, based on document analysis of the group participants' reports, where consultations were carried out with diverse sources such as reports developed during the interventions, image bank and field diaries of the analysis. The data were interpreted through the theoretical and methodological assumptions of Social Occupational Therapy. Results The interventions, through conversation rounds, thematic activity workshops and a photo essay, promoted a space for reflection and exercise of female protagonism and the strengthening of the support network and social participation. Gender themes were addressed based on the participants' daily life and experiences, such as: overload, sexism, sociocultural beliefs, sexuality and objectification of the female body. Conclusions The group facilitated the strengthening of bonds and the creation of social support networks and the (re)construction of life projects that valued other occupational roles, favoring the deconstruction of the strict figure of woman-mother-caregiver.

Full Financial Education Programmes for People with Disabilities: a Scoping Review / Programas Integrais de Educação Financeira para Pessoas com Incapacidade: uma Revisão de Literatura

ABSTRACT: Financial literacy has been recognised worldwide as a way to confront social inequalities in work access, own financial control and education, particularly among vulnerable groups. People with disabilities, especially those with intellectual and developmental disabilities, experience additional challenges accessing opportunities to learn financial-related competencies. There is an extensive bibliography on this subject that stretches for decades, but this does not translate into an extensive availability of science-based programmes. To our knowledge, no comprehensive search to find the gaps in this evidence has been conducted. We conducted a scoping review that sought to identify the core goals, contents, approaches, gaps and limitations of full financial education programmes for youths and adults with disabilities. Seven publications met the inclusion criteria, which included implementation of programmes that embrace a multidimensional set of skills. Selection and categorisation of the programmes' contents were conducted independently by three researchers. Findings suggest that money and transactions is the content most consistently addressed in the programmes designed for persons with disabilities. A stronger focus on self-determination skills is needed to support financial-related decision-making and self-advocacy. The results indicate that the use of approaches based on Universal Design for Learning, problem-based learning and the combined use of simulated and community-based instruction are critical strategies to support access to financial competencies. Gaps and future orientations include the need to broaden the number of studies that implement and evaluate programmes considering the multidimensional nature of the financial competencies and its critical role for social inclusion of people with disabilities.

RESUMO: A literacia financeira tem sido reconhecida mundialmente como uma forma de responder a desigualdades sociais no acesso ao trabalho, controlo financeiro e educação, principalmente em grupos vulneráveis. As pessoas com incapacidade, principalmente intelectual e desenvolvimental, enfrentam barreiras adicionais no acesso a oportunidades para a aprendizagem de competências financeiras. A bibliografia é extensa e estende-se por décadas, mas não resulta na mesma proporção em programas completos, baseados na evidência, e que estejam disponíveis. No nosso conhecimento, não existe uma revisão detalhada direcionada para as lacunas desta evidência. Realizamos uma revisão do tipo Scoping Review para identificar os objectivos, conteúdos, abordagens, lacunas e limitações de programas integrais para a Educação Financeira dirigidos a jovens e adultos com Incapacidade. Foram selecionadas sete publicações que cumpriam os critérios de inclusão, designadamente a implementação de programas que englobassem um espectro multidimensional de competências. A selecção e a categorização dos conteúdos dos programas foram conduzidos independentemente por três investigadores. Os resultados sugerem que o uso de dinheiro e as transacções constituem os conteúdos mais abordados nos programas. Parece ser necessário um maior enfoque nas competências de autodeterminação para apoiar tomadas de decisão e autoadvocacia na vida financeira. As abordagens baseadas no Desenho Universal para a Aprendizagem, a Aprendizagem Baseada em Problemas e o uso combinado de aprendizagem em contexto simulado e real foram identificadas como estratégias fundamentais. As lacunas e as orientações para o futuro incluem a necessidade de ampliar o número de estudos que implementem e avaliem programas assentes na natureza multidimensional das competências financeiras e no seu papel crítico na inclusão social de pessoas com incapacidade.

Profile of children assisted in a teaching outpatient clinic of developmental disabilities in São Paulo, Brazil / Perfil das crianças atendidas em um ambulatório de ensino de alterações do desenvolvimento em São Paulo, Brasil

Abstract Objective: To analyze the epidemiological and clinical profile of patients with developmental disabilities followed in a university clinic in Brazil. Methods: Descriptive, retrospective study, based on medical records. Children aged zero to 18 years with developmental problems, firstly evaluated between 2009 and 2018, were included. Patients with missing data or out of the age and time period established were excluded. There were nine losses and 374 patients constituted the final sample. Linear regression models were performed. Results: The mean age at the first assessment was 52.2±39.7 months and the age when the parents perceived the symptoms was 20.9±23.8 months. The most common impairment was motor associated with language delay (28.3%). The interval between the parents' perception and the first consultation was associated with the mothers' education and number of pregnancies. The age at first assessment was associated with the disability type. The number of pregnancies was associated with the child's age when the parents noticed the symptoms and at the first consultation. Conclusions: Parents' recognition of the symptoms occurred early, however, there was a delay until the arrival at the clinic. Higher maternal education was associated with a shorter gap between perception of the developmental disability and consultation. A greater number of pregnancies was associated with a later perception of the developmental delay by the parents as well as a delay in the assessment and a wider interval between them. Motor problems were the most common in younger children, and language complaints in older ones.

Resumo Objetivo: Estabelecer o perfil clínico-epidemiológico de pacientes com alterações do desenvolvimento acompanhados em uma clínica universitária brasileira. Métodos: Estudo descritivo, retrospectivo, baseado em prontuários. Foram incluídas crianças de zero a 18 anos com alterações do desenvolvimento, primeiramente avaliadas entre 2009 e 2018. Foram excluídos pacientes com dados ausentes ou fora da idade e do período estabelecidos. Houve nove perdas, e 374 pacientes constituíram a amostra final. Modelos de regressão linear foram executados. Resultados: A média de idade na primeira avaliação foi de 52,2±39,7 meses, e a média de idade quando os pais perceberam os sintomas foi de 20,9±23,8 meses. O comprometimento mais comum foi o motor associado ao da linguagem (28,3%). O intervalo entre a percepção dos pais e a primeira consulta esteve associado à escolaridade materna e ao número de gestações. A idade da primeira avaliação foi relacionada ao tipo de comprometimento. O número de gestações foi associado à idade da criança quando os pais notaram os sintomas e na primeira consulta. Conclusões: O reconhecimento dos sintomas pelos pais foi pontual, porém houve demora até a chegada à clínica. Maior escolaridade materna foi associada a menor defasagem entre a percepção da deficiência e a consulta. Maior número de gestações foi associado a uma percepção tardia dos pais com relação aos sintomas e ao atraso na primeira avaliação, bem como ao maior intervalo entre elas. Os sintomas motores foram os mais comuns nas crianças mais novas, e as queixas de linguagem nas mais velhas.

Entrevista com a professora maria amélia almeida: caminhos pa ra a educação especial e a deficiência intelectual no brasil1 / Interview with professor maria amélia almeida: pathways to special education and intellectual disability in brazil

RESUMO A consolidação da produção de conhecimento em Educação Especial no Brasil é marcada pela trajetória de professores pioneiros que puderam vivenciar formações internacionais e trazer para o país inovações da atuação junto aos estudantes com deficiência, além da expertise em delineamentos de pesquisa para essa produção. Assim sendo, este texto traz uma entrevista com a Professora Maria Amélia Almeida, da Universidade Federal de São Carlos, com a narrativa das oportunidades de formação em pesquisa vivenciadas e o seu interesse na área da Deficiência Intelectual. A Professora Maria Amélia Almeida destaca o processo de tradução e de validação, para o Brasil, da Escala de Intensidade de Suporte sob o qual ela tem se debruçado em seu grupo de pesquisa ao longo dos últimos anos e reconhece o importante papel da Revista Brasileira de Educação Especial para a área no Brasil.

ABSTRACT The consolidation of the production of knowledge in Special Education in Brazil is marked by the trajectory of pioneer teachers who were able to experience international training and bring to the country innovations of the performance with students with disabilities, in addition to the expertise in research projects for this production. Thus, this text brings an interview with Professor Maria Amélia Almeida, from the Federal University of São Carlos, with the narrative of the research training opportunities experienced and her interest in Intellectual Disability. Professor Maria Amélia Almeida highlights the process of translation and validation for Brazil of the Support Intensity Scale under which she has focused on her research group over the last few years and recognizes the important role of the Brazilian Journal of Special Education for the area in Brazil.

Advances in genetics and prevention of monogenic global developmental delay and intellectual disability / 中华围产医学杂志

Global developmental delay/intellectual disability (GDD/ID) is an enormous group of neurodevelopmental disorders with diverse clinical and genetic heterogeneity. The estimated prevalence of GDD/ID was 1%-3%, affecting about 150 million people. GDD/ID is one of the leading causes of disability in children worldwide. The causes of GDD/ID are complex, comprising genetic and environmental factors. It is often co-morbid with a variety of psychiatric behavioral disorders, such as autism spectrum disorder and attention deficit hyperactivity disorder. Owing to the improvement of genetic technology, monogenic GDD/ID has been one of the hot-spot research in genomic era, and the relevant preventive measures deserve extensive attention. In this review, we summarized the advances in genetics and prevention of monogenic GDD/ID.

A case of mental retardation autosomal dominant 35 with neonatal onset / 中华围产医学杂志

This article reported a male patient with neonatal onset mental retardation autosomal dominant 35 (MRD35). The boy presented with repeated convulsions, hypotonia, enlarged head circumference, congenital muscular torticollis and feeding difficulties in the neonatal period. Dynamic electroencephalogram showed paroxysmal epileptic discharges in the left central-temporal region. High-throughput whole-exome sequencing revealed a heterozygous mutation of c.139G>A (p.Glu47Lys) in the PPP2R5D gene, which was a de novo mutation not inherited from his parents. The child had significant developmental delay at the age of one year. MRD35 lacks typical clinical manifestations and requires whole-exome sequencing for definitive diagnosis. Currently, there is no specific treatment for MRD35 and symptomatic treatments, including rehabilitation training, language training and seizure control, are mostly adopted.

Prenatal diagnosis of fetal ZTTK syndrome: a case report / 中华围产医学杂志

This article reported the prenatal diagnosis of a fetus with ZTTK syndrome. A pregnant woman underwent preimplantation genetic diagnosis because her partner carried a balanced chromosomal translocation. Chromosomal karyotype analysis and copy number variation sequencing (CNV-seq) performed on amniocytes collected at 18 + weeks of gestation revealed no abnormalities. Ultrasonography performed at 23 +5 and 26 +3 weeks of gestation revealed severe fetal growth restriction, cerebellar dysplasia, poorly visualized sacrum and coccyx, and spina bifida. MRI of the fetal brain showed that the bilateral cerebellar hemispheres of the fetus were small and the cisterna magna was large at 23 +6 weeks of gestation. Whole exome sequencing in the pedigree identified a heterozygous variant c.2092delG (p.Glu698fs*4) in the exon 3 of the fetal SON gene, which was not inherited from the parents and proved to be a de novo mutation. Mutations in the locus are pathogenic, causing ZTTK syndrome. After genetic counseling, the pregnant woman and her family chose to terminate the pregnancy.

Impacto e sobrecarga familiar em cuidadores de crianças e adolescentes com deficiência intelectual / Family mpact and burden on caregivers of children and adolescents with intellectual disabilities

A Deficiência Intelectual (DI) se caracteriza por déficits funcionais, intelectuais, funções adaptativas, ou seja, os padrões de desenvolvimento e socioculturais relacionados à independência pessoal e responsabilidade social não são atingidos adequadamente. Objetivo: Avaliar o impacto familiar e a sobrecarga em cuidadores familiares de crianças e adolescentes com DI. Métodos: Estudo transversal de caráter analítico. Os dados foram coletados na Clínica Intelectual, de um Centro de Reabilitação e Readaptação. Foram aplicadas a Escala de Impacto Familiar, Escala de Burden Interview e dois questionários, um sobre o perfil sociodemográfico de cuidadores familiares e outro de perfil demográfico e clínico de crianças e adolescentes com DI. Resultados: Foram entrevistados 50 participantes, a maioria do gênero feminino, com baixa renda mensal e que dedicam maior parte do tempo aos seus filhos. O estudo evidenciou que o diagnóstico da DI pode gerar impactos moderados e em partes, baixa sobrecarga, na vida destes cuidadores. A baixa escolaridade, baixa renda mensal e as rupturas de papéis ocupacionais influenciaram os resultados encontrados. Conclusões: O acesso aos estudos, mercado de trabalho e suporte financeiro, podem repercutir de forma positiva na vida dos cuidadores familiares, diminuindo o impacto e a sobrecarga que o diagnóstico da DI pode causar

Intellectual Disability (ID) is characterized by functional, intellectual and adaptive function deficits, that is, developmental and socioculturais standards related to personal independence and social responsibility are not adequately achieved. Objective: To assess the family impact and burden on family caregivers of children and adolescents with ID. Methods: Analytical cross-sectional study. Data were collected at Clínica Intelectual, from a Rehabilitation and Readaptation Center. The Family Impact Scale, the Burden Interview Scale and two questionnaires were applied, one on the sociodemographic profile of family caregivers and the other on the demographic and clinical profile of children and adolescents with ID. Results: 50 participants were interviewed, mostly female, with low monthly income and who dedicate most of their time to their children. The study showed that the diagnosis of ID can generate moderate impacts and in parts, low burden, in the lives of these caregivers. Low schooling, low monthly income and ruptures in occupational roles influenced the results found. Conclusions: Access to studies, the job market and financial support can have a positive impact on the lives of family caregivers, reducing the impact and burden that the diagnosis of ID can cause

Börjeson -Forssman -Lehmann syndrome: A case report / 中南大学学报(医学版)

Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked intellectual disability. The main features of the patients include intellectual disability/global developmental delay, characteristic face, anomalies of fingers and toes, hypogonadism, linear skin hyperpigmentation, and tooth abnormalities in female patients, and obesity in male patients. A case of BFLS caused by a novel mutation of PHF6 gene who was treated in the Department of Pediatrics, Xiangya Hospital, Central South University was reported. The 11 months old girl presented the following symptons: Global developmental delay, characteristic face, sparse hair, ocular hypertelorism, flat nasal bridge, hairy anterior to the tragus, thin upper lip, dental anomalies, ankyloglossia, simian line, tapering fingers, camptodactylia, and linear skin hyperpigmentation. The gene results of the second-generation sequencing technology showed that there was a novel heterozygous mutation site c.346C>T (p.Arg116*) of the PHF6 (NM032458.3), variation rating as pathogenic variation. During the follow-up, the patient developed astigmatism, strabismus, awake bruxism, and stereotyped behavior, and the linear skin hyperpigmentation became gradually more evident. The disease is lack of effective therapy so far.

Intellectual disability, macrocephaly and seizures caused by de novo variants in PAK1: a case report / 中华实用儿科临床杂志

The clinical data of a child with intellectual disability, macrocephaly and seizures associated with de novo variants in the PAK1 gene who was treated in the Department of Pediatrics, Peking University First Hospital in March 2022 were retrospectively analyzed.Meanwhile, literature review was performed to analyze the pathogenicity and mutation characteristics of the PAK1 gene.A boy with 4 years and 8 months old presented clinical manifestations of intellectual disability dominated by speech impairment and recurrent epilepsy.The patient had special facial features, including large head circumference, long face and low nose beam.Video electroencephalogram showed slow waves in the bilateral anterior head regions, and sharp wave, spike-slow complex waves and sharp-slow complex waves in the left hemisphere.Head magnetic resonance imaging revealed enlargement of the bilateral cerebral gyri, cerebellum and brainstem, thickening of cortex and corpus callosum, and enrichment of white matter.A de novo heterozygous mutation c. 361C>A(p.Pro121Thr ) was found in exon 4 of PAK1 (NM_001128620). This article for the first time reported a case of intellectual disability, macrocephaly and seizures caused by the de novo variants in the PAK1 gene in China.The pathogenic gene in this family was identified, which provided the possibility for accurate genetic counseling.