Experiencias de personas adultas con discapacidad intelectual sobre el derecho a la vida independiente: Un estudio de caso / Experiences of adults with intellectual disabilities on the right to independent living: A case study

Resumen En el ámbito de la discapacidad intelectual, el desarrollo de una vida independiente se ha configurado como un derecho humano y civil que permite a estas personas articular planes de vida deseados. Esta investigación analiza, mediante un estudio de caso, los significados que un grupo asesor compuesto por ocho personas adultas con discapacidad intelectual tiene sobre el concepto de vida independiente en el contexto chileno. Para la recopilación de los datos se diseñó una entrevista grupal semiestructurada acompañada de moodboards que facilitaron la verbalización de las respuestas. Sobre los relatos obtenidos a partir de las entrevistas se realizó un análisis de contenido temático. Los resultados muestran cómo el desempeño de una actividad laboral remunerada o el establecimiento de relaciones afectivas sólidas se conforman como elementos imprescindibles para la independencia personal. La dificultad para ser económicamente independientes o la falta de accesibilidad en el entorno laboral se identifican también como principales barreras para la concreción de este derecho. Igualmente, se destaca el rol que desempeñan la pareja y las amistades como figuras de apoyo constante a la independencia y al empoderamiento personal. Estos resultados sugieren algunas orientaciones para la planificación de intervenciones sobre este constructo, las cuales deben procurar la adquisición de habilidades que fortalezcan la capacidad de autocuidado de este colectivo, promover el incremento de oportunidades para la realización de elecciones significativas en el ámbito laboral, personal y comunitario, y adaptarse a los espacios en los que se desenvuelven las personas con discapacidad intelectual en la edad adulta.

Abstract In the field of intellectual disability, the development of an independent life has been configured as a human and civil right that allows these people to articulate desired life plans. Despite the advances, at the international level, research on aspects related to independent living in people with intellectual disabilities continues to be very scarce. Generally, the approaches to the study of this construct are based on broader investigations dedicated to evaluating the levels of quality of life or self-determination of this population in residential services or sheltered housing. Precisely, this study analyzes, through a case study, the meanings that an advisory group made up of eight adults with intellectual disabilities has on the concept of independent living in the Chilean context in order, on the one hand, to identify relevant elements for the definition of the construct from the perceptions and experiences of this population; and on the other, to propose guidelines at various levels that allow progress in the realization of this right. To collect the data, a semi-structured group interview was designed whose questions were grouped around four themes: previous conceptions of the participants about the construct of independent life, satisfaction with life and possibilities of the context for the development of personal independence, role of family, friendship and partner in independent life, and opportunities of the work context for the achievement of personal independence. During the interview, another strategy was incorporated in which visual language gained more relevance. Specifically, a set of ten moodboards were used that allowed participants to delve into the different topics addressed. The results of the code validation process were calculated using Krippendorff's alpha statistics (.954) and Cohen's kappa (.953), which showed a high level of inter-judge agreement. As a result of this process, categories (N = 6) and subcategories (N = 17) were established. The results show how various needs, barriers and facilitators for the development of independent life are identified from the interviews of the interviewees. Among the main needs is the performance of a paid work activity or the establishment of solid affective relationships. With regard to the barriers that hinder personal independence, the most notorious are related to the difficulty of being financially independent or to the lack of accessibility in the work environment. Regarding the elements that facilitate the development of an independent life, the role of the couple stands out as a constant figure of support for independence and personal empowerment. These results suggest some guidelines for planning interventions on this construct. Among others, they should seek the acquisition of skills that strengthen the self-care capacity of this group; should promote increased opportunities for making meaningful choices in the workplace, personal and community; and they must adapt to the spaces in which people with intellectual disabilities operate in adulthood. On the other hand, it is assumed that one of the main limitations of this research is that the results are not generalizable. However, this study has some strengths. Among others, it contributes to enriching the bulk of research on independent living, this being an aspect barely addressed in the literature. It also complements the results of other research regarding the elements that can condition the development of skills for personal independence. This allows for the design of interventions that provide opportunities for independent living based on the felt needs of these people. In addition, it raises future lines of research related, for example, to the importance of the informed choice of the residential environment or to the study of the possibilities of the digital world as an incident phenomenon in the acquisition of skills for personal independence.

Monitoring of Inpatient Rehabilitation in Child and Parent Pairs with the Canadian Occupational Performance Measure / The Japanese Journal of Rehabilitation Medicine

Objective：Our institute provides inpatient intensive rehabilitation to severely disabled children and their parents. Rehabilitation aims are patient-specific, thus using individual scales to evaluate rehabilitation is essential. Here, we adopted the Canadian Occupational Performance Measure (COPM) to perform this evaluation in thirty-one cases.Methods：For the COPM, patients set goals in five subjects, and evaluates their performance levels and satisfaction levels on a scale of 1-10, before and after rehabilitation, and the mean scores are compared.Results：The COPM scores were significantly elevated in all cases at discharge. Patient had an average increase of 3.9 points for both performance and satisfaction scores. The scores of children with medical complexity tended to exceed those who did not require complex medical care. We identified a correlation between satisfaction and performance scores.Conclusion：We quantitatively measured the development of patients to measure the effectiveness of our intervention for two months using the COPM, which cannot be clarified by other objective evaluation tools for gross motor skills, functional independence, etc.. Although satisfaction scores are subjective, herein, their validity was shown by the correlation to the performance scores. Overall, COPM can contribute to top-down approaches to rehabilitation.

Monitoring of Inpatient Rehabilitation in Child and Parent Pairs with the Canadian Occupational Performance Measure / The Japanese Journal of Rehabilitation Medicine

Objective：Our institute provides inpatient intensive rehabilitation to severely disabled children and their parents. Rehabilitation aims are patient-specific, thus using individual scales to evaluate rehabilitation is essential. Here, we adopted the Canadian Occupational Performance Measure (COPM) to perform this evaluation in thirty-one cases.Methods：For the COPM, patients set goals in five subjects, and evaluates their performance levels and satisfaction levels on a scale of 1-10, before and after rehabilitation, and the mean scores are compared.Results：The COPM scores were significantly elevated in all cases at discharge. Patient had an average increase of 3.9 points for both performance and satisfaction scores. The scores of children with medical complexity tended to exceed those who did not require complex medical care. We identified a correlation between satisfaction and performance scores.Conclusion：We quantitatively measured the development of patients to measure the effectiveness of our intervention for two months using the COPM, which cannot be clarified by other objective evaluation tools for gross motor skills, functional independence, etc.. Although satisfaction scores are subjective, herein, their validity was shown by the correlation to the performance scores. Overall, COPM can contribute to top-down approaches to rehabilitation.

Faculty attitudes toward teaching students with mild intellectual disabilities in higher education / Atitudes do corpo docente em relação ao ensino de alunos com deficiência intelectual leve no ensino superior

ABSTRACT The purpose of this study was to examine the relations between faculty members' attitudes in Higher Education Saudi universities and demographic factors (i.e., academic rank, gender, years of experience, and type of college) by using the Interaction with Disabled Persons (IDP) Scale and multiple regression analysis. Results indicate that gender was associated with one dimension: vulnerability. The ranks of assistant professor and full professor were related to two dimensions: discomfort in social interactions and a coping-succumbing framework. Also, the college education variable was related to three dimensions: discomfort in social interactions, perceived level of information, and vulnerability. Results show that faculty members had lower negative attitudes toward students with mild intellectual disabilities in Higher Education. Based on study results, the researcher recommends more faculty training in how to support the Higher Education of students with disabilities as well as accessible support centers for individuals with disabilities to help staff as well as students. Also, universities should be made accessible to people with all types of disabilities who have a right to Higher Education.

RESUMO O objetivo deste estudo foi examinar as relações entre as atitudes dos membros do corpo docente no Ensino Superior de universidades sauditas e os fatores demográficos (ou seja, classificação acadêmica, gênero, anos de experiência e tipo de faculdade) usando a Escala de Interação com Pessoas com Deficiência (IPD) e a análise de regressão múltipla. Os resultados indicam que o gênero estava associado a uma dimensão: vulnerabilidade. As posições de professor assistente e professor titular estavam relacionadas a duas dimensões: desconforto nas interações sociais e uma estrutura de enfrentar-sucumbir. Além disso, a variável educação universitária estava relacionada a três dimensões: desconforto nas interações sociais, nível percebido de informação e vulnerabilidade. Os resultados mostram que os membros do corpo docente tiveram atitudes negativas mais baixas em relação aos estudantes com deficiências intelectuais leves no Ensino Superior. Com base nos resultados do estudo, o pesquisador recomenda mais treinamento do corpo docente sobre como apoiar os estudantes com deficiência no Ensino Superior bem como centros de suporte acessíveis para indivíduos com deficiência para ajudar a equipe e os alunos. Ademais, as universidades devem ser acessíveis a pessoas com todos os tipos de deficiência que têm direito ao Ensino Superior.

Ensino de leitura e escrita para alunos com deficiência intelectual baseado no Paradigma de Equivalência de Estímulos / Teaching reading and writing to students with intellectual disabilities based on stimulus equivalence instruction / Enseñar a leer y escribir a estudiantes con discapacidad intelectual basado en el Paradigma de Equivalencia de Estímulos

A formação de classes de estímulos equivalentes tem sido considerada um modelo para o estabelecimento de relações simbólicas, ou do significado, contribuindo para o ensino de leitura e escrita. O presente estudo teve como objetivo avaliar os efeitos de um módulo de ensino de um programa informatizado de leitura e escrita em crianças com deficiência intelectual matriculadas em uma escola regular. Participaram três alunos com idades entre 8 e 10 anos. O programa de ensino era aplicado na própria escola, duas a três vezes por semana, individualmente, com sessões de aproximadamente 35 minutos. Foi empregado uma avaliação geral de leitura e escrita antes e após o programa. Os resultados mostraram que quanto melhor o repertório de entrada, mais rapidamente os participantes avançaram no módulo e melhoraram seus repertórios de leitura e escrita. A realização dessa intervenção nas séries iniciais pode contribuir na aprendizagem de repertórios básicos de leitura e escrita.

The formation of stimulus equivalence classes has been considered a productive model of symbolic relations ­ or meaning ­ for teaching reading and writing. This study aimed to evaluate the effects of one module of a computerized reading and writing program for children with intellectual disabilities enrolled in a regular school. Three students aged between 8 and 10 participated in the study. The program was applied individually to each participant in the school premises across two to three weekly sessions of approximately 35 minutes each. General assessment was applied as a pre and post-test. The results showed that the better the participants' existing repertoires, the faster they advanced in the procedure and improved their reading and writing skills. Conducting this intervention in early school years can contribute to the process of leaning basic reading and writing

La formación de clases de estímulo equivalentes se ha considerado un modelo para el establecimiento de relaciones simbólicas, contribuyendo a la enseñanza de la lectura y escritura. El estudio tuvo como objetivo evaluar los efectos de un módulo didáctico de un programa computarizado de lectura y escritura en niños con discapacidad intelectual matriculados en una escuela regular. Participaron tres estu diantes de entre 8 y 10 años. El programa de enseñanza se aplicó en la escuela, de dos a tres veces por semana, de manera individual, con sesiones de aproximadamente 35 minutos. Se utilizó una evaluación general de lectura y escritura antes y después del programa. Los resultados mostraron que cuanto mejor era el repertorio de entrada, más rápido avanzaban los participantes en el módulo y mejoraban su repertorio. La realización de esta intervención en los grados iniciales puede contribuir al aprendizaje de los repertorios básicos de lectura y escritura.

Considerations Regarding the Characteristics of Disabilities and the Result of PCR Tests during a COVID-19 Outbreak at a Facility for Persons with Disabilities / The Japanese Journal of Rehabilitation Medicine

Objective：As the number of patients with SARS-CoV-2 infection (COVID-19) increases, the infection control measures at facilities for persons with disabilities are also having a great impact. In January 2021, there was an outbreak at our facility for children with disabilities, which was found to have a total of 42 PCR-positive persons, 16 admitted patients, and 26 staff members. Although the 16 admitted patients had a mild illness, it was challenging to deal with it because we needed to continue nursing in the facility while taking isolation measures. Analysis was performed to determine the association between the characteristics of disabilities and the result of PCR tests.Methods：Multivariate nominal logistic regression analysis was performed to determine the association of age, sex, intellectual level, and degree of motor disabilities of all admitted patients with the results of PCR tests.Results：Age, sex, and intellectual level were not associated to the results of PCR tests. However, regarding degree of motor disabilities, there were significantly more PCR positive persons in the self-movable group than in the bedridden group.Conclusion：In our facility, contacts among patients and between patients and staffs are close because all patients need supports for individual disabilities. In particular, the self-movable group tends to be densely crowded and to have close relationships with each other, which was considered to be one of the factors of the outbreak. In facilities for persons with disabilities, infection control could be more difficult for patients who maintain a certain degree of self-movable functions.

Considerations Regarding the Characteristics of Disabilities and the Result of PCR Tests during a COVID-19 Outbreak at a Facility for Persons with Disabilities / The Japanese Journal of Rehabilitation Medicine

Objective：As the number of patients with SARS-CoV-2 infection (COVID-19) increases, the infection control measures at facilities for persons with disabilities are also having a great impact. In January 2021, there was an outbreak at our facility for children with disabilities, which was found to have a total of 42 PCR-positive persons, 16 admitted patients, and 26 staff members. Although the 16 admitted patients had a mild illness, it was challenging to deal with it because we needed to continue nursing in the facility while taking isolation measures. Analysis was performed to determine the association between the characteristics of disabilities and the result of PCR tests.Methods：Multivariate nominal logistic regression analysis was performed to determine the association of age, sex, intellectual level, and degree of motor disabilities of all admitted patients with the results of PCR tests.Results：Age, sex, and intellectual level were not associated to the results of PCR tests. However, regarding degree of motor disabilities, there were significantly more PCR positive persons in the self-movable group than in the bedridden group.Conclusion：In our facility, contacts among patients and between patients and staffs are close because all patients need supports for individual disabilities. In particular, the self-movable group tends to be densely crowded and to have close relationships with each other, which was considered to be one of the factors of the outbreak. In facilities for persons with disabilities, infection control could be more difficult for patients who maintain a certain degree of self-movable functions.

Eficacia de un programa grupal, online sincrónico de salud y bienestar para personas que trabajan con jóvenes y adultos con discapacidad intelectual / Effectiveness of a synchronous online, group health and wellness program for people who work with youths and adults with intellectual disabilities

Resumen Fundamentos. Se diseñó e implementó un programa de promoción de la salud destinado a personas que trabajan con jóvenes y adultos con discapacidad intelectual. Los objetivos perseguidos fueron evaluar la eficacia de un programa de promoción de la salud grupal, online sincrónico y promover el bienestar de los trabajadores. Método. Se trata de una investigación con un enfoque cuantitativo, exploratorio descriptivo e interactivo, con un diseño cuasiexperimental, pre pos test para muestras pareadas. Instrumentos: Cuestionario de Salud General (GHQ 12), Índice de Felicidad de Pemberton, Maslach Burnout Inventory (MBI), Inventario de ansiedad de Beck (BAI) y una ficha sociodemo- gráfica ad hoc. El programa de intervención desarrollado, "Bienestar y salud", constó de 8 sesiones grupales, online, sincrónicas (por Google meet), de frecuencia semanal, con una duración de 120 minutos. La participación fue voluntaria y firmaron un consentimiento informado. Resultados. Participaron un total de 35 trabajadores con una edad promedio de 31.11 años. Tras la intervención, se observó un incremento en el bienestar personal y la realización personal en el trabajo y una reducción en el nivel de malestar psicológico, ansiedad, agotamiento emocional y despersonalización. Se observaron diferencias estadísticamente significativas en las puntuaciones pre pos test del malestar psicológico y de la dimensión agotamiento emocional del MBI. Conclusión. Los hallazgos permiten concluir que participar en un programa de promoción de la salud en formato grupal en línea sincrónico resultó eficaz para incrementar el bienestar y la salud de los trabajadores.

Abstract Background. A health promotion program was designed and implemented for people who work with youths and adults with intellectual disabilities. The objectives were to evaluate the effectiveness of a synchronous online group health promotion program and to promote worker well-being. Method. It is an investigation with a quantitative, descriptive and interactive approach, with a quasi-experimental design, pre- and posttest for paired samples. Instruments: General Health Questionnaire (GHQ 12), Pemberton Happiness Index, Maslach Burnout Inventory (MBI), Beck Anxiety Inventory (BAI) and an ad hoc sociodemographic form. The intervention program carried out, "Well-being and health", consists of 8 group synchronous online sessions (on Google meet), with a weekly frequency, lasting 120 minutes. Results. Participation was voluntary and all signed an informed consent. A total of 35 workers with an average age of 31.11 years participated. After the intervention, there was an increase in personal well-being and personal fulfillment at work, and a reduction in the level of psychological discomfort, anxiety, emotional exhaustion and depersonalization. Statistically significant differences were observed in the scores pre- and posttest of psychological distress and emotional exhaustion. Conclusion. The results allow us to conclude that participating in a synchronous online group health promotion program was effective to increase the well-being and health of workers.

Funcionamento Intelectual e Interesses Profissionais: um Estudo com Adolescentes em Contexto Escolar / Intellectual Disabilities and Professional Interests: A Study with Adolescents in the School Context / Discapacidades intelectuales e intereses profesionales: un estudio con adolescentes en Contexto Escolar

Neste estudo, analisamos a relação entre dificuldades no funcionamento intelectual (DFI) e interesses profissionais. A amostra constitui-se por 120 estudantes, com idades entre 14 e 22 anos (M = 15, DP = 1), e foi dividida entre os que apresentavam DFI (n = 54) e os que não apresentavam DFI (n = 66). Utilizamos o Inventário de Interesses e Exploração Auto-Dirigida e um questionário sociodemográfico e escolar. Os resultados revelam diferenças moderadas nos interesses dos adolescentes com DFI, comparativamente aos que não têm DFI, com resultados médios superiores de tipo Realista e Social, e inferiores de tipo Empreendedor. Os resultados são discutidos tendo em conta a necessidade de considerar a diversidade em contexto escolar e de promover a inclusão destes jovens.

In this study we analyse the relation between intellectual disabilities and professional interests. Sample consisted of 120 Portuguese students, aged between 14 and 22 years old (M = 15, SD = 1), which were divided in two groups, depending on whether intellectual disabilities were present (N = 54) or absent (N = 66). We used the Portuguese version of the Self Directed Search Inventory, and a sociodemographic and school life survey. Results show moderate differences between students with and without intellectual disabilities in professional interests. Students with intellectual disabilities reported higher mean interests of Realistic and of Social type, and lower mean interests of Entrepreneur type. Results are discussed taking into account the need to consider students' diversity and to promote social inclusion.

En este estudio, analizamos la relación entre la discapacidad intelectual (DI) y los intereses profesionales de 120 estudiantes portugueses, de edades entre 14 y 22 años (M = 15; DP = 1). Hemos utilizado la versión en portugués del Self Directed Search, y un cuestionario sociodemográfico y escolar. Los resultados muestran diferencias moderadas en los intereses profesionales de los estudiantes con DI, en comparación con aquellos sin DI, con resultados medios más altos de tipo Realista y Social, y más bajos de tipo Emprendedor. Los resultados se discuten teniendo en cuenta la necesidad de considerar la diversidad en el contexto escolar y promover la inclusión.

Unmet Needs and Services of Nursing Care for Adults with Extremely Severe and Severe Intellectual Disabilities Using Structural Equation Analysis / 中国康复理论与实践

Objective:To explore the characteristics and related factors of unmet needs of nursing care and service for adults with extremely severe and severe intellectual disabilities. Methods:A total of 127 547 adults with extremely severe and severe intellectual disabilities were sampled. Descriptive statistics and multiple response analysis were conducted, and a structural equation model of unmet needs of nursing care and received the services was developed. Results:A total of 26 038 adults with extremely severe and severe intellectual disabilities reported unmet needs of rehabilitation, including nursing care (52.50%), medicine (36.90%), assistive device (20.90%), functional training (19.70%) and surgery (0.80%) respectively. A total of 11 640 adults with extremely severe and severe intellectual disabilities reported received rehabilitation services, including nursing care (49.90%), medicine (36.80%), functional training (19.10%), assistive device (14.10%) and surgery (1.00%) respectively. The structural equation model showed that received nursing care service (main effect = 0.646) and received rehabilitation services (included nursing care) (main effect = 0.014), age (main effect = 0.031), household registration (main effect = 0.015) and educational level (main effect = -0.158) had effects on unmet needs of nursing care (P < 0.001). Conclusion:Adults with extremely severe and severe intellectual disabilities reported unmet needs mainly involved in field of nursing care, and their rehabilitation services mapped to their main needs. It proposed to develop rehabilitation services tailored to their rehabilitation experience, age, socioeconomic status, functional conditions and characteristic of unmet needs, to develop accessible services items and individualized nursing care programs, and to expand the nursing care service supply and coverage of nursing care.

Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene

Microduplications of the X chromosome are a rare cause of X-linked intellectual disability (XLID), a clinically and genetically heterogeneous spectrum of disorders. In the present study, a 950-kb Xp22.12 microduplication including the RPS6KA3 gene was detected in affected members of a family, including the proband (male), his mother and one maternal uncle. Four female carriers had major depression and one of them also had mild intellectual disability. The present and previous cases with overlapping microduplications suggest that Xp22.12 microduplications can be included in the neuropsychiatric copy number variations.

Pre and postnatal characteristics of children and adolescents with intellectual disability / Características pré e pós-natais de crianças e adolescentes com deficiência intelectual

ABSTRACT Purpose: to describe pre and postnatal characteristics of children and adolescents with intellectual disability. Methods: study performed with all individuals who received healthcare between August 2016 and February 2018 at a reference Rehabilitation Center which serves 27 towns and cities in the South of Santa Catarina State, Brazil. A questionnaire focusing on demographic, socioeconomic, pre and postnatal variables was administered to parents or guardians of children and adolescents by trained interviewers. Descriptive analyses were performed using absolute and relative frequencies of categorical variables and central tendency and dispersion measures of numerical variables. Results: 42 individuals in the mean age of 11 years (± 3.0) were studied. Most mothers reported having unintended pregnancy and more than a half reported having had a cesarean section. In addition, about one-fifth of the subjects had low birth weight and most of them received exclusive breastfeeding up to six months of age. Conclusion: these findings are crucial for the organization and improvement of health care services, since they provide evidence for health professionals to improve and/or focus their health care initiatives on these individuals.

RESUMO Objetivo: descrever características pré e pós-natais de crianças e adolescentes com deficiência intelectual. Métodos: estudo realizado com todos os indivíduos atendidos no período de agosto de 2016 a fevereiro de 2018 em um Centro Especializado em Reabilitação referência para o extremo sul catarinense do Brasil. Foi aplicado, por entrevistadores treinados, um questionário aos pais e/ou responsáveis pelas crianças e adolescentes, contendo variáveis demográficas, socioeconômicas, pré e pós-natais. Análises descritivas foram realizadas, apresentando frequências absoluta e relativa das variáveis categóricas e medida de tendência central e de dispersão das variáveis numéricas. Resultados: foram estudados 42 indivíduos com média de idade de 11 anos (±3,0). Grande maioria das mães referiu não ter planejado a gestação e mais da metade delas relatou ter realizado parto cesárea. Além disso, cerca de um quinto dos indivíduos nasceram com baixo peso e a grande maioria deles recebeu aleitamento materno exclusivo até os seis meses de idade. Conclusão: os achados são de grande relevância para a organização e o aprimoramento dos serviços de atenção à saúde, uma vez que fornecem evidências para os profissionais de saúde aprimorarem e/ou direcionarem suas ações no atendimento a esse público-alvo.

Physical Activities and Its Influential Factors for Children with Intellectual Disabilities / 中国康复理论与实践

Objective To analyze the current status of physical activities for children with intellectual disabilities based on ICF, to discuss the effects of physical activities on the health, and the approaches and its precautions.Methods The theory and method of ICF had been adopted. Literature review and theoretical research methods were implemented.Results In the way of participating physical activity, children with intellectual disabilities would improve not only their physical fitness, but also their mood and quality of life, and reduce their health risks.Conclusion Children with intellectual disabilities faced barriers in physical activities. It recommended to develop policies and provide support and guidance services to promote their participation of physical activities. It is necessary to develop policies to encourage children with intellectual disabilities to participate in community-based physical activities and provide adaptive facility and equipment, guidance and supportive services.

Are we making a difference in primary care for adults with intellectual and developmental disabilities? / ¿Estamos logrando un cambio en la atención primaria a adultos con discapacidades intelectuales y del desarrollo? / Estamos conseguindo uma mudança na atenção primária para adultos com deficiências intelectuais e de desenvolvimento?

ABSTRACT Objectives To examine the impact of the dissemination of guidelines to physicians and of a population-level health communication intervention on the percentage of adults with intellectual and developmental disabilities (IDD) receiving preventive care through primary care. Methods Noninstitutionalized adults with IDD in the province of Ontario, Canada, aged 40 to 64 years were matched to Ontarians without such disabilities each fiscal year (FY) from 2003 to 2016. Health administrative data were used to create a composite measure of receipt of recommended preventive primary care. Age-adjusted rates were used to assess trends, and average two-year rate ratios (RRs) and confidence intervals (CIs) were used to evaluate the effectiveness of the interventions. Results The number of adults with IDD identified ranged from 20 030 in FY 2003 to 28 080 in FY 2016. The percentage of adults with IDD receiving recommended preventive primary care ranged from 43.4% in 2003 to 55.7% in 2015. Men with IDD had a 53.7% increase across the 13 years, while women with IDD only had a 30.9% increase. When evaluating the impact of the interventions, men with IDD were 4% more likely (RR: 1.04; 95% CI: 1.02-1.05) to receive recommended primary care in FY 2015 and FY 2016 as compared to FY 2009 and FY 2010; in contrast, women with IDD were 5% less likely (RR: 0.95; 95% CI: 0.93-0.98). A comparable drop was observed among women without IDD. Conclusions Nearly 45% of adults with IDD in Ontario still do not receive recommended preventive care through primary care. Long-term impacts of the interventions introduced in the province may still occur over time, so ongoing monitoring is warranted. Special attention should be given to the preventive care needs of women with IDD.

RESUMEN Objetivos Examinar el impacto de la diseminación de guías para médicos y de una intervención de comunicación de salud para la población sobre el porcentaje de adultos con discapacidades intelectuales y del desarrollo (DID) que reciben asistencia preventiva a través de la atención primaria. Métodos Se compararon adultos de 40 a 64 años con DID no institucionalizados de la provincia de Ontario, Canadá, con habitantes de Ontario sin discapacidad en cada año fiscal (AF) desde 2003 hasta 2016. Se utilizaron datos administrativos de salud para crear una medida compuesta indicadora de haber recibido la atención primaria preventiva recomendada. Se usaron tasas ajustadas por edad para evaluar las tendencias y los índices de frecuencia (RR) e intervalos de confianza (IC) promedio de dos años para evaluar la efectividad de las intervenciones. Resultados El número de adultos con DID identificados varió de 20 030 en el AF 2003 a 28 080 en el AF 2016. El porcentaje de adultos con DID que recibieron la atención primaria preventiva recomendada varió del 43,4% en 2003 al 55,7% en 2015. Los varones con DID presentaron un aumento del 53,7% a lo largo de los 13 años, mientras que las mujeres con DID solo tuvieron un aumento del 30,9%. Al evaluar el impacto de las intervenciones, los varones con DID mostraron un 4% más de probabilidades (RR: 1,04; IC 95%: 1,02-1,05) de recibir la atención primaria recomendada en los AF 2015 y 2016 en comparación con los AF 2009 y 2010; en comparación, las mujeres con DID presentaron un 5% menos de probabilidad (RR: 0,95; IC 95%: 0,93-0,98). Se observó una disminución comparable entre las mujeres sin DID. Conclusiones Aproximadamente el 45% de los adultos con DID en Ontario aún no reciben la atención preventiva recomendada a través de la atención primaria. Los impactos a largo plazo de las intervenciones introducidas en la provincia aún pueden ocurrir a lo largo del tiempo, por lo que se requiere un monitoreo continuo. Se debe prestar especial atención a las necesidades de atención preventiva de las mujeres con DID.

RESUMO Objetivos Examinar o impacto da disseminação de diretrizes para médicos é da intervenção de comunicação em saúde em nível populacional sobre a porcentagem de adultos com deficiência intelectual e de desenvolvimento (DID) que recebem cuidados preventivos por meio de atenção primária. Métodos Adultos não institucionalizados com DID na província de Ontário, Canadá, com idades entre 40 e 64 anos foram comparados com os habitantes de Ontário sem deficiência, em cada exercício fiscal (AF) desde 2003 a 2016. Dados de saúde administrativos foram usados para criar uma medida de ter recebeu cuidados preventivos recomendados. As taxas ajustadas por idade foram usadas para avaliar as tendências, e as razões de frequência (RR) e os intervalos de confiança média (IC) de dois anos foram utilizados para avaliar a eficácia das intervenções. Resultados O número de adultos com DID identificados variou de 20 030 no AF 2003 para 28 080 no AF 2016. A percentagem de adultos com DID que recebeu cuidados preventivos recomendados variou de 43,4% em 2003 para 55,7% em 2015. Homens com DID mostraram um aumento de 53,7% ao longo dos 13 anos, enquanto as mulheres com DID só apresentaram aumento de 30,9%. Ao avaliar o impacto das intervenções, os homens com DID mostraram uma probabilidade 4% maior (RR: 1,04, IC 95%: 1,02-1,05) de receber cuidados primarios recomendados em os AF 2015 e 2016 em comparação com os AF 2009 e 2010; em contraste, as mulheres com DID tiveram uma probabilidade 5% menor (RR: 0,95, IC 95%: 0,93-0,98). Uma diminuição comparável foi observada entre as mulheres sem DID. Conclusões Aproximadamente 45% dos adultos com DID em Ontário ainda não recebem cuidados preventivos recomendados através da atenção primária. Os impactos a longo prazo das intervenções introduzidas na província podem ainda ocorrer ao longo do tempo, pelo que é necessária uma monitorização contínua. Atenção especial deve ser dada às necessidades de cuidados preventivos das mulheres com DID.

Intervenção com famílias de pessoas com deficiência intelectual: análise da produção científica / Intervention with families of people with intellectual disabilities: analysis of the scientific production

As famílias de pessoas com deficiência intelectual (DI) podem vivenciar, em razão das especificidades da deficiência e suas consequências, momentos difíceis, permeados por dúvidas, incertezas, inseguranças e angústias. Nesse sentido, programas de intervenção direcionados ao convívio familiar quando há uma pessoa com DI possibilitam formas de promoção do desenvolvimento e prevenção a problemas ao funcionamento da família e dos membros individualmente. Assim, objetivou-se realizar um levantamento bibliográfico das publicações referentes a intervenções com famílias de pessoas com DI no âmbito da América Latina, Espanha e Portugal. Para isso, realizou-se uma busca sistemática nas bases de dados Scielo e Redalyc e na ferramenta de busca Google Acadêmico. Foram encontradas 37 publicações, com predominância de artigos teóricos/revisão de literatura e de origem espanhola. A maioria das intervenções foi do tipo 'orientação' e 'grupo de apoio', direcionada a genitores/cuidadores. Espera-se que haja uma maior produção sobre intervenção, família e deficiência, especialmente na América Latina.

Families of people with intellectual disabilities (ID) can experience, due to the specific characteristics of the disability and its consequences, challenging moments, imbued by doubts, uncertainties, insecurities and anxieties. Intervention programs related to family life when a person with ID possible ways of promoting development and preventing the problems for the functioning of family and individual members. Therefore, this study aims to conduct a literature review of publications related to interventions with families of people with ID in the context of Latin America, Spain and Portugal. We conducted a systematic search in the Scielo and Redalyc databases and Google Scholar search engine. Were found 37 publications, with a predominance of theoretical papers/literature review and Spanish origin. Most of the interventions was like 'orientation' and 'support group', related to parents/caregivers. It is expected greater production of intervention, family and disability, especially in Latin America.

Nuevas consideraciones sobre la salud de las personas con trastornos del desarrollo intelectual / New considerations on the health of the persons with intellectual developmental disorders

Resumen: La literatura reciente indica que las personas con trastornos del desarrollo intelectual (TDI) presentan diferencias respecto de la población general en cuanto a la prevalencia de determinadas enfermedades y a la atención sanitaria que reciben. El conocimiento actual con base en la evidencia es aún muy escaso en países no anglosajones. Los proyectos europeos POMONA-I y POMONA-II tenían el objetivo de recoger información sobre el estado de salud de las personas con TDI en Europa. Actualmente, el proyecto POMONA-ESP en España pretende recoger dicha información en una muestra amplia y representativa de personas con TDI. También se están llevando a cabo otros estudios sobre la necesidad de contar con servicios especializados y sobre la formación que reciben los profesionales sanitarios sobre TDI. En este artículo se revisan las últimas evidencias sobre la salud de las personas con TDI y se exponen las principales actividades de investigación y asistencia sanitaria sobre este tema.

Abstract: Recent literature indicates that people with Disorders of Intellectual Development (DID) experience health disparities in the pathologies that they present, and a worst access to health care. However, current evidence-based knowledge is still sparse outside the Anglo-Saxon countries. The POMONA-I and POMONA-II European projects aimed to collect information on the health status of people with DID in Europe. The POMONA-ESP project in Spain is meant to collect health information in a wide and representative sample of persons with DID. Also, there are studies that claim for the need of specialized services for people with DID at the public health system. There are also studies about the current state of the education and training about DID for students within the health sector. In this paper we review the latest evidences about the health of the persons with DID and we present the main research activities and care initiatives about this issue.

Fenilcetonuria de diagnóstico tardío / Late-diagnosed phenylketonuria

Introducción: La fenilcetonuria es el error congénito del metabolismo más frecuente y es la primera enfermedad del metabolismo con un tratamiento exitoso que evita la discapacidad intelectual. Tanto en el mundo como en la Argentina la fenilcetonuria inauguró la lista de enfermedades del tamizaje neonatal. La prueba de pesquisa neonatal tiene una relación entre el costo y la eficacia altamente favorable cuando la prueba de pesquisa da un resultado correcto; en caso contrario, esta prueba dejaría de ser eficaz. La fenilcetonuria clásica está causada por la deficiencia de la enzima fenilalanina hidroxilasa, responsable de la conversión de fenilalanina a tirosina. Objetivo: El objetivo del presente trabajo fue identificar pacientes con fenilcetonuria que no han sido diagnosticados por medio de la pesquisa neonatal; también, describir la presentación clínica de la enfermedad y analizar las causas de la falta de diagnóstico y de las potenciales repercusiones para los programas de pesquisa en la Argentina. Antecedentes históricos y de normativas: Se describen brevemente los antecedentes históricos de la fenilcetonuria y de la prueba de tamizaje neonatal. A partir de 1986, por medio de la Ley 23413, se establece la obligatoriedad de realizar la pesquisa neonatal de fenilcetonuria en la República Argentina. Materiales y métodos: Analizamos los pacientes con diagnóstico de fenilcetonuria que se encuentran en seguimiento en el Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan desde 2000 hasta 2015. Hallamos una serie de casos con diagnóstico de fenilcetonuria que no han sido diagnosticados por la prueba de pesquisa neonatal, y los comparamos. Estudiamos las políticas de Salud Pública que reglamentan las pruebas de pesquisa en la Argentina. Resultado y conclusiones: Se identificaron tres pacientes con fenilcetonuria clásica de diagnóstico tardío con discapacidad intelectual. Los tres casos son sujetos oriundos de Neuquén, Argentina, con la prueba de pesquisa informada como "negativa"; en los tres, la muestra fue tomada tempranamente. Para que los programas de pesquisa sean efectivos, en primer lugar deben existir políticas sanitarias unificadas para todas las provincias argentinas, con un sistema de coordinación, formación, educación, evaluación y estadística eficiente. Es fundamental conocer el impacto que causa no detectar a estos pacientes ya que esta revisión demuestra que, ante el fracaso de la prueba de pesquisa neonatal, es posible evitar el resultado de tres personas con discapacidad intelectual, dos de ellas totalmente dependientes de sus familias y del sistema sanitario.

Introduction: Phenylketonuria (PKU) is the most prevalent disorder caused by an inborn error in aminoacid metabolism and it is the first disease that has a successful treatment that prevents intellectual disabilities. It is the first disorder included in neonatal screening programmes in the world, as it also happens in our country. Furthermore, newborn screening is a highly favorable cost-effective test when the screening test is well done, otherwise the cost effectiveness would be unfavorable. Classical PKU is caused by phenylalanine hydroxylase that catalyses the conversion of the essential amino acid L-phenylalanine to L-tyrosine. Objective: To identify patients with PKU who have not been diagnosed by means of newborn screening tests. Description of the clinical presentation of the disease. Analysis of the causes and potential implications for newborn screening programs. Historical antecedents and regulations: The historical background of PKU and of the disease neonatal screening tests are briefly described Since 1986 the National Law #23413 establishes the obligation of performing the Neonatal Screening of phenylketonuria in Argentina. Materials and methods: We analized patients with PKU admitted and followed up in the Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan from 2000 to 2015 We found a case series of patients with phenylketonuria that have not been diagnosed by means of the newborn screening test and we compared them. Analysis of Public Health Care policies and the laws that regulate the screening tests in Argentina. Results and conclusion: Three patients were identified and diagnosed with classic PKU of late diagnosis and presented mental disability. The three cases were from Neuquén province, Argentina. The neonatal screening tests had reported as "negative" and the three samples had been taken early. If the screening programs are to be effective what is needed, in the first place, it is to have uniform health care policies with national coverage with an efficient system of coordination, training, education, evaluation and statistics. It is essential to know the impact that implies not to identify these patients. In this review, we have noticed that the failure of the newborn screening tests resulted in three patients with intellectual disabilities, two of them totally dependent on their families and the health care system.

Inclusión laboral de personas en situación de discapacidad intelectual egresadas del programa diploma en habilidades laborales de la Universidad Andrés Bello: perspectiva de empleadores / Labour inclusion of people with intellectual disabilities graduated from the diploma in labour skills programme at University Andrés Bello: employers' perspective

Este artículo pretende rescatar — a través de una metodología mixta de investigación — la experiencia de empleadores que brindan oportunidades de trabajo en sus empresas a personas en situación de discapacidad intelectual egresadas, desde el año 2007, del Programa Diploma en Habilidades Laborales de la Universidad Andrés Bello. El objetivo es identificar las habilidades y competencias que les han permitido insertarse en el medio laboral y la incidencia que ha tenido, desde su perspectiva, la formación socio laboral recibida. Junto con esto, el artículo recoge sus valoraciones respectoa la inclusión laboral de jóvenes con discapacidad en sus empresas, identificando los aportes y dificultades que este proceso ha representado para ellos. En general, se pudo observar una valoración positiva de los empleadores hacia la inclusión laboral de personas en situación de discapacidad intelectual en sus empresas. Así, concordaron en que éstas cuentan con las habilidades para desempeñarse adecuadamente en el cargo, ala vez que establecen relaciones interpersonales favorables con el resto de empleados.

This article aims to collect — through a mixed research methodology — the experience of employers who provide job opportunities at their companies to people with intellectual disabilities graduated from the Diploma in Labour Skills Programme at Andrés Bello University since 2007. The objective is to identify both the abilities and competences that allowed them to enter the labour market and the effect this social and labour training has had on them. Additionally, the article retrieves their evaluations about including young people with disabilities into their companies, identifying the benefits and difficulties this process has offered to them. Generally speaking, a positive evaluation of the inclusion of workers with intellectual disabilities in their companies was observed among employers. They all believe these workers have the skills toper form in their jobs adequately, while also maintaining positive social relations with the rest of the people in their companies.

Mapeamento das estratégias inclusivas para estudantes com deficiência intelectual e autismo / Mapeamento das estratégias inclusivas para estudantes com deficiência intelectual e autismo / Levantamiento de herramientas inclusivas para estudiantes condiscapacidad intelectual y autismo

Compreender a forma como tem ocorrido a implementação das normas sobre a inclusão escolar de estudantes com deficiência intelectual (DI) e transtorno do espectro autista (TEA) pode auxiliar na caracterização de estratégias bem sucedidas, que possam servir como modelos para outras escolas, educadores ou famílias. O objetivo do estudo foi mapear as estratégias de inclusão escolar, utilizadas com dez estudantes (05 com DI e 05 com TEA), a partir da caracterização desses participantes, dos relatos de seus pais e das descrições sistemáticas das atividades realizadas por cada estudante durante a sua presença no espaço escolar. Foram aplicados testes, entrevistas semiestruturadas e observações sistemáticas. Os resultados indicam a participação do professor de educação especial, a partir do ensino fundamental, e o uso limitado do atendimento educacional especializado (AEE). Discutem-se a intensificação desse atendimento e a necessidade de inserção do educador especial na educação infantil, preparando o estudante para as demandas do ensino fundamental.

The understanding the way it has been the implementation of the rules on school inclusion of students with intellectual disabilities (ID) and autism spectrum disorder (ASD) can help to characterize successful strategies that can serve as models for other schools, educators and families. The goal of study was to map the school inclusion strategies used with 10 students (five with ID and five ASD), from the characterization of these participants, the reports of parents and systematic descriptions of the activities performed by each student during his presence at school. Tests were applied, semi-structured interviews and systematic observations. The results indicate the participation of special education teacher from the elementary school and the limited use of specialized educational services (SES). The discussion of the data was on intensification of this service and the need to enter the special educator in kindergarten, preparing the student for the demands of elementary school.

La comprensión de cómo ha sido la aplicación de las normas sobre la inclusión escolar de los alumnos com discapacidad intelectual (DI) y trastorno del espectro autista (TEA) puede ayudar a caracterizar las estrategias eficaces 2017 que pueden servir de modelo para otras escuelas, educadores y familias. El objetivo del estudio fue mapear las estrategias de inclusión utilizadas con 10 estudiantes (cinco con DI y de cinco TEA), a partir de la caracterización de estos participantes, los informes de los padres y las descripciones sistemáticas de las actividades realizadas por cada estudiante durante su presencia en la escuela. Se aplicaron pruebas, entrevistas semiestructuradas y observaciones sistemáticas. Los resultados indican la participación del maestro de educación especial desde la escuela primaria, y el uso limitado de los servicios educativos especializados. Los resultados discuten la intensificación de este servicio y la necesidad de inserción educador especial en la educación infantil, para preparar a los estudiantes para las exigencias de la escuela primaria.

Relatos de pais sobre a inclusão e a trajetória escolar de filhos com deficiência intelectual / Parents reports about school inclusion and trajectory of children with intellectual disabilities / Relatos de los padres sobre la inclusión y la trayectoria de hijos con discapacidad intelectual

O envolvimento dos pais na trajetória acadêmica dos filhos pode favorecer maior desempenho social e acadêmico deles, especialmente, filhos com deficiência intelectual (DI). Uma forma de propiciar esse envolvimento pode ser com base em informações levantadas pelos pais em relação às trajetórias dos seus filhos. O objetivo foi caracterizar o processo de inclusão no percurso escolar de crianças com deficiência intelectual, a partir da percepção dos pais sobre a trajetória escolar dos seus filhos. Foi realizada uma entrevista semiestruturada com três pais de crianças com DI matriculados na escola regular, de modo a contemplar a trajetória escolar dos alunos com DI. A análise do discurso dos pais identificou a necessidade de um profissional para acompanhar a criança com DI, durante a realização das atividades acadêmicas na sala de aula, e o estabelecimento de uma parceria colaborativa entre a díade escola especial e regular. São propostas discussões sobre as práticas inclusivas identificadas, com base nos relatos dos pais

The involvement of parents in the academic life of their children can foster greater social and academic performance of their children, especially those with intellectual disabilities (ID). One way to facilitate this involvement may be from information gathered by the parents regarding the trajectories of their children. The objective was to characterize the inclusion process in the schooling of children with intellectual disabilities, from the perception of parents about the school life of their children. A semi-structured interview with three parents of children enrolled ID was held at regular school, in order to include the school trajectory of students with ID. The parents of discourse analysis identified the need for a professional to accompany the child with DI while conducting academic activities in the classroom, which allows us to reaffirm the importance of a specialist and the establishment of a collaborative interaction between special needs and regular school. They are proposed discussions on identified inclusive practices, based on parental reports

La participación de los padres en la vida escolar de sus hijos puede fomentar un mayor rendimiento social y académico de ellos, especialmente los niños con discapacidad intelectual (DI). Una forma de facilitar esta participación puede ser a partir de informaciones recogida por los padres con respecto a las trayectorias de sus hijos. El objetivo fue caracterizar el proceso de inclusión en la escolarización de los niños con discapacidad intelectual, a partir de la percepción de los padres sobre la vida escolar de sus hijos. Una entrevista semiestructurada con tres padres de niños con DI matriculados en la escuela regular, a fin de discutir la trayectoria escolar de los alumnos con DI. El análisis del discurso de los padres identificó la necesidad de un profesional para acompañar al niño con DI durante la realización de actividades académicas en el aula y el establecimiento de una colaboración entre la escuela especial y regular. Son propuestas discusiones sobre prácticas inclusivas identificadas, basadas en relatos de los padres