Interpersonal violence against people with intellectual disabilities in São Paulo, Brazil: characteristics of victims, perpetrators and referrals.

INTRODUCTION: Interpersonal violence is a phenomenon that can occur with different people and conditions. However, people with intellectual disabilities have increased vulnerability to this problem, with potential risks to their health and well-being. The aim of this study was to identify the sociodemographic characteristics of people with disabilities who have been victims of interpersonal violence, the profile of the perpetrators and the measures taken after the victims have been cared for. METHODS: This is an exploratory, descriptive, cross-sectional study using the Interpersonal Violence Notification Forms entered into the Brazilian Ministry of Health's Notifiable Diseases Information System. The city of São Paulo was chosen as the setting because it is the largest city in Latin America and has a faster data processing system than other cities. The period covered notifications made between 2016 and 2022. The information was collected between October and November 2023 and a univariate statistical analysis was carried out. Fisher's exact test was used, with a significance level of 5% (α = 0.05). RESULTS: There were 4,603 notifications against people with intellectual disabilities in the period. The forms of physical violence, neglect/abandonment and psychological/moral violence were more frequent in the 15-19 age group, while sexual violence was more frequent in the 10-14 age group (p < 0.001). The sex most often attacked was female in all the forms investigated (p < 0.001) and the skin colors of the most victimized people were black and/or brown, except in cases of neglect/abandonment (p = 0.058). Most of the victims had little schooling (p = 0.012). The aggressions were committed by one person (p < 0.001), known or related to the victim, such as mother or father, except in cases of sexual violence, where strangers were the main perpetrators (p < 0.001). The sex of the perpetrator was male, except in cases of neglect and/or abandonment (p < 0.001), and the age was between 25 and 29 (p = 0.004). In cases of sexual violence, rape was the most frequent and the procedures carried out were blood collection followed by prophylaxis for Sexually Transmitted Infections (STIs) were the main procedures carried out by health professionals (p = 0.004). The majority of referrals made after receiving care were to the health and social assistance network, with few referrals to bodies such as the human rights reference center, guardianship council and police stations (p < 0.001). CONCLUSION: People with intellectual disabilities are highly vulnerable to the forms of violence studied, especially children and adolescents, black or brown, with low levels of education. The perpetrators are usually close people, male and older than the victims. The referrals made by health professionals did not prioritize the victim's safety and the guarantee of human rights. Lines of care for the health of victims of violence should be implemented, taking into account special aspects, such as people with intellectual disabilities, whose search for help can be difficult.

Transición de jóvenes con trastornos del neurodesarrollo / The transition of youth with neurodevelopmental disorders

La transición de la atención pediátrica a la de adultos, en adolescentes y jóvenes con condiciones crónicas de salud, es un proceso necesario y difícil. El proceso de transición de estos pacientes contará con diferentes matices según la condición de salud, las características del sistema sanitario, los equipos de salud involucrados y los factores contextuales del joven y su familia. El objetivo central es que a través de una autonomía progresiva el joven llegue a ser un adulto competente en cuanto a asumir y manejar sus necesidades de salud, relaciones sociales y laborales que su enfermedad crónica le permita. Pero estos objetivos se ven interferidos cuando hablamos de jóvenes con condiciones crónicas que involucran el neurodesarrollo y es más complejo aún cuando nos referimos a jóvenes que no serán autónomos. Para las familias y cuidadores de estos jóvenes los centros pediátricos son un entorno más protegido que cuesta dejar. Por todo esto es que, si bien hay lineamientos generales a tener en cuenta, cada equipo debe revisar sus resultados para poder avanzar. Aún no se logró consenso acerca de cuál es el momento óptimo, la edad y las mejores estrategias, aunque es reconocida la dificultad para implementar un programa adecuado y más aún evaluar los resultados de los programas que se utilizan en la transición; se llevan adelante programas "genéricos" utilizados para diferentes enfermedades crónicas, o específicos para una enfermedad, otros programas combinan ambas estrategias. Basados en lo anterior hay jóvenes y familias que requieren un armado "artesanal y a medida" (AU)

The transition from pediatric to adult care for adolescents and young people with chronic health conditions is a necessary yet challenging process. This transition will vary depending on the health condition, the characteristics of the health system, the health teams involved, and the contextual factors of the youth and their family. The central objective is for the youth to achieve progressive autonomy, becoming a competent adult capable of managing their health needs, social, and work relationships, as allowed by their chronic disease. However, these objectives become more complicated when dealing with young people with chronic conditions involving neurodevelopment, and even more so for those who will never achieve autonomy. For the families and caregivers of these youths, pediatric centers offer a more protected environment that is difficult to leave. For all these reasons, while general guidelines should be considered, each team must review its results to move forward. Consensus has not yet been reached on the optimal time, age, and best strategies for transition. It is recognized that implementing an adequate program is challenging, and evaluating the results of these programs is even more difficult. There are "generic" programs used for various chronic diseases, as well as disease-specific programs, and some programs combine both strategies. Given these complexities, some young people and their families require a "handcrafted and tailor-made" approach (AU)

Aprendizaje de la lectura mediante la asociación imagen - palabra escrita: una revisión de la evidencia en niños con discapacidad intelectual y autismo / Learning to read through picture-written word association: a review of the evidence in children with intellectual disability and autism / Aprendendo a ler por meio da associação de imagens e palavras: uma revisão das evidências em crianças com deficiência intelectual e autismo

Se tiene como objetivo determinar si la asociación imagen - palabra escrita, como parte del método de instrucción de palabras a la vista limita la adquisición del aprendizaje de la lectura en niños con discapacidad intelectual y autismo. Para lo cual, se realizó una revisión narrativa de los estudios reportados en las bases de datos de Scopus, Willey, ScienceDirect, Taylor & Francis, y Sage. Los hallazgos evidencian que la presentación de imagen y palabra escrita como estímulo compuesto puede obstaculizar el proceso de reconocimiento del texto, lo que sugiere la necesidad de emplear esta estrategia con precaución. En consecuencia, se recomienda fomentar actividades de aprendizaje donde la palabra escrita se presente de manera independiente; entre las prácticas alternativas que pueden implementarse, destacan la presentación de la imagen como retroalimentación posterior a la exposición aislada de la palabra escrita. Otra opción viable consiste en mostrar la palabra escrita, seguida de la instrucción de hacer coincidir palabra con imagen.

The objective was to determine if the image-written word association, as part of the straight forward word instruction method, limits the acquisition of learning to read in children with intellectual disabilities and autism. For which, a narrative review of the studies reported in the Scopus, Willey, ScienceDirect, Taylor & Francis, and Sage databases was carried out. It was considered, the presentation of an image and a written word as a compound stimulus can hinder the text recognition process, suggesting the need to use this strategy with caution. Consequently, it is recommended to encourage learning activities where the written word is presented independently. However, it is possible to use the images as feedback, in order to avoid the negative effect of the images.

O objetivo foi verificar se a associação imagem-palavra escrita, como parte do método de instrução das palavras simples, limita a aquisição da aprendizagem da leitura em crianças com deficiência intelectual e autismo. Para isso, foi realizada uma revisão narrativa dos estudos relatados nas bases de dados Scopus, Willey, ScienceDirect, Taylor & Francis e Sage. Considerou-se que a apresentação de uma imagem e uma palavra escrita, e apresentá-la como um estímulo composto, pode dificultar o reconhecimento do texto, sugerindo a necessidade de emprego dessa estratégia com cautela. Nesse sentido, recomenda-se promover atividades de aprendizagem onde a palavra escrita deve ser apresentado sozinho. No entanto, é possível usar as imagens como feedback, a fim de evitar o efeito negativo das imagens.

Role of projective psychological tests in patients with Prader-Willi syndrome.

INTRODUCTION: The purpose of this study was to evaluate the usefulness and relevance of projective techniques such as house-tree-person (HTP) and family in individuals with Prader-Willi syndrome (PWS), who have a limited ability to identify and verbalize emotions and express them often using behaviors. METHODS: We included individuals with genetic confirmation of PWS immersed in a regular transdisciplinary treatment in an institution dedicated to rare diseases. All individuals were evaluated using the HTP and family projective techniques. These instruments are commonly administered to the general population and, in this case, to people with mild to moderate intellectual disabilities, including difficulties in their communication abilities. RESULTS: A total of 25 individuals with PWS between 10 and 41 years old (15 men and 10 women) were included. We identified the presence of graphic indicators corresponding to the behavioral phenotype of individuals with PWS, such as anxiety, stubbornness, emotional lability, difficulty in achieving adequate externalization and identification of emotions, impulsivity, aggressive traits, poor social skills, need for support and interaction, low self-concept, and compulsive behaviors. CONCLUSIONS: In the present study, we demonstrated the usefulness of graphic techniques to elucidate aspects of behavior, emotions, and thoughts that individuals with PWS cannot formulate due to expression and communication difficulties.

Neurodevelopmental disorder associated with gene ARF3: A case report.

We present a case study of a patient exhibiting acquired microcephaly along with global developmental delay and drug-resistant epilepsy. Brain magnetic resonance imaging revealed distinctive features, including a Z-shaped morphology of the brainstem, volumetric reduction of white matter, diffuse thinning of the corpus callosum, and partial fusion of the cerebellar hemispheres at their most cranial portion. Whole-exome sequencing uncovered a pathogenic variant in the ARF3 gene c.200A>T, p.(Asp67Val). The neurodevelopmental disorder associated with the ARF3 gene is exceptionally rare, with only two previously documented cases in the literature. This disorder is characterized by global developmental delay and brain malformations, particularly affecting the white matter, cerebellum, and brainstem. It can also manifest as acquired microcephaly and epilepsy. These phenotypic characteristics align with Golgipathies, underscoring the significance of considering this group of conditions in relevant clinical contexts. In cases where a Z-shaped morphology of the brainstem is observed, ARF3-associated disorder should be included in the list of differential diagnoses.

Frameshift Variant in ARID2 in a Chilean Individual with Coffin-Siris Syndrome Phenotype.

Coffin-Siris syndrome (CSS) is one of the several causes of intellectual disability (ID) and, since its first description, has posed diagnostic challenges given its variability and phenotypic overlap with other alterations of chromatin-remodeling-associated syndromes. It is genetically heterogeneous, and causative mutations are detected in less than 70% of cases. The different subtypes of the syndrome described to date are caused by mutations in genes that encode subunits of the SWI/SNF chromatin-remodeling complex, which plays an essential role in the regulation of gene expression during embryogenesis. Whole exome sequencing (WES) has allowed the identification of pathogenic mutations in these genes, including ARID2 . ARID2 is one of the primary components of the SWI/SNF complex and has been associated with ID and phenotypes similar to CSS for the first time in 2015. Fifteen published case reports have identified loss-of-function mutations, suggesting that the underlying pathogenic disease mechanism is haploinsufficiency of ARID2 . We herein presented the case of an 8-year-old Chilean girl with clinical suspicion of CSS, in whom a novel frameshift variant in ARID2 was identified by WES. She was the first reported case in Latin America to our knowledge and her phenotype displays the main clinical features suggestive of CSS described in other patients with ARID2 variants. However, she did not present behavioral abnormalities, a characteristic frequently reported in the majority of patients with ARID2 variants, and also had some features, such as sparse scalp hair, which is frequently reported as a manifestation of CSS, but is uncommon in this new group of patients.

Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil.

Intellectual disability (ID) is considered a common neuropsychiatric disorder that affects up to 3% of the population. The etiologic origin of ID may be genetic, environmental, and multifactorial. Chromosomopathies are relatively common among the genetic causes of ID, especially in the most severe cases and those associated with dysmorphic features. Currently, the application of new molecular cytogenetics technologies has increasingly allowed the identification of microdeletions, microduplications, and unbalanced translocations as causes of ID. The objective of this study was to investigate the etiology of ID in patients admitted to a public hospital in Northeastern Brazil. In total, 119 patients with ID who had normal karyotypes and fragile X exams participated in this study. The patients were initially physically examined for microdeletion syndromes and then tested using fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA), methylation-sensitive polymerase chain reaction (MS-PCR), and chromosome microarray analysis (CMA), according to clinical suspicion. Patients with no diagnoses after FISH, MLPA, and/or MS-PCR evaluations were subsequently tested by CMA. The rate of etiologic diagnoses of ID in the current study was 28%. FISH diagnosed 25 out of 79 tested (31%), MLPA diagnosed 26 out of 79 tested (32%), MS-PCR diagnosed 7 out of 20 tested (35%), and the single nucleotide polymorphism array diagnosed 6 out of 27 tested (22%). Although the CMA is the most complete and recommended tool for the diagnosis of microdeletions, microduplications, and unbalance translocations in patients with ID, FISH, MLPA, and MS-PCR testing can be used as the first tests for specific syndromes, as long as the patients are first physically screened clinically, especially in the public health networks system in Brazil, where resources are scarce.

Assessment of adaptive behavior in people with intellectual disabilities: Design and development of a new test battery.

Background: Adaptive behavior is an important characteristic of people with intellectual disabilities, and it has been associated with a person's performance in social and work contexts. Indeed, adaptive behavior denotes what a person does independently, without help, support, reminders, or prompts. In Peru, available measures of adaptive behavior are commercial; thus, there is a need for an open-access tool to assess the adaptive behavior of people with intellectual disabilities. For this reason, the aim of the study was to design and develop a new Adaptive Behavior Test Battery for people from 13 to 60 years old with intellectual disabilities who have an interest in being part of the economically active population. Methods: A cross-sectional design was defined, starting with a qualitative approach to designing and constructing the item pool for the test battery. Then, quantitative indexes Aiken's V for content validity and Krippendorff's alpha for inter-observer reliability were estimated, resulting in a first version of the three subscales that comprised the test battery. The initial versions were tested on a sample of 566 persons with intellectual disabilities from two regions of Peru: Lima (Coast) and San Martín (Jungle). The internal structure was analyzed under a factor analysis approach, along with internal consistency measures of reliability. Further analyses of invariance regarding gender, region, and age were carried out. Results: Three observer subscales were proposed: Daily living activities (11 items), Instrumental skills (4 items), and Communication (9 items). All subscales showed excellent psychometric properties denoted by the Aiken's V coefficient, Krippendorff's alpha, factor analysis, internal consistency analysis, and invariance analyses. Conclusion: The developed a new Adaptive Behavior Test Battery is a useful tool for the measurement of adaptive behavior and the monitoring of social and labor inclusion programs for people with intellectual disabilities.

Knowledge, attitudes and practices related to oral health in participants of the institutional program for the inclusion of people with cognitive disabilities in higher education at the University of Costa Rica / Conocimientos, actitudes y prácticas relacionadas con la salud oral en participantes del Programa Institucional de Inclusión de Personas con Discapacidad Cognitiva a la Educación Superior de la Universidad de Costa Rica

Abstract People with cognitive disabilities face multiple challenges concerning oral health and frequently show oral tissue decay because of the barriers society imposes upon them, and due to financial issues, professional and family lack of knowledge, limitations regarding access to services, lack of empowering-driven actions, among others. Positive knowledge, attitudes and practices regarding oral health, developed during the course of a lifetime, help in preserving good health. The aim of the current study is to describe oral health knowledge, attitudes and practices in people with cognitive disabilities participating in the Institutional Program for the Inclusion of People with Cognitive Disabilities in Higher Education at the University of Costa Rica (PROIN, in Spanish), during 2021. A descriptive study with mixed focus was performed; a representative sample comprised of 86 students enrolled in PROIN was used for the quantitative approach, while the qualitative approach used a criteria sample along with an opinion sample, limiting size due to information overload. The survey, along with its corresponding questionnaire and the semi-structured interview, were used as data gathering techniques. It was evidenced that certain issues need to be readdressed, such as bleeding gums, the importance of preserving dental pieces, as well, the practice of flossing, which many students expressed difficulties doing. Good attitudes were found, such as dentist visits; however, access barriers for this population must be overthrown. This article showed the importance of training professionals in disabilities as well as developing oral health promotion programs aimed at people with cognitive disabilities.

Resumen La población con discapacidad cognitiva enfrenta múltiples retos en cuanto a la salud oral, presentado comúnmente un deterioro de los tejidos orales; esto como consecuencia a las barreras impuestas por la sociedad, factores económicos, desconocimiento de los profesionales y familiares, limitaciones en el acceso a la atención, falta de acciones para fomentar su autonomía, entre otras. Los conocimientos, actitudes y prácticas favorables en salud oral ayudan a conservar una buena salud, los cuales se desarrollan a lo largo de la vida. El objetivo del presente estudio es describir los conocimientos, actitudes y prácticas de salud oral en las personas con discapacidad cognitiva que participaron en el Programa Institucional de Inclusión de Personas con Discapacidad Cognitiva a la Educación Superior de la Universidad de Costa Rica (PROIN) durante el año 2021. Se realizó un estudio descriptivo con un enfoque mixto, para el enfoque cuantitativo se utilizó una muestra representativa de 86 estudiantes matriculados en PROIN y para la parte cualitativa se utilizó una muestra por criterio con un muestreo opinático, estableciendo el tamaño por saturación de la información. Se utilizaron como técnicas de recolección de datos la encuesta con su respectivo cuestionario y la entrevista semiestructurada. Se evidenció que existen temas que se deben reforzar, como lo es el sangrado de encías, la importancia de conservar las piezas dentales, así como la práctica de uso de hilo dental, donde la mayoría de los estudiantes expresaron tener dificultades para su utilización. Además, se encontró buenas actitudes con respecto a la visita al odontólogo, sin embargo, se debe derribar barreras de acceso que se presentan para esta población. Este estudio demostró la necesidad de capacitar a los profesionales en el tema de discapacidad y desarrollar programas de promoción de la salud oral específicos para personas con discapacidad cognitiva.

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.

[Non-therapeutic hysterectomy in Mexican young females with intellectual disability: a problematized reality]. / Histerectomía no terapéutica en jóvenes mexicanas con discapacidad intelectual: una realidad problematizada.

Background: Non-therapeutic hysterectomy in girls and adolescents with intellectual disability (ID) is an acceptable practice, even when there is a lack of prescriptive ethical reason. Objectives: To determine the magnitude of the practice of hysterectomy in girls and adolescents with ID, and explore the emic factors associated with this procedure. Material and methods: Multicenter, intersectoral study with a mixed methods design. Results: The quantitative results showed that 50 of 234 reported hysterectomies corresponded to females with ID. Average age at the time of surgery was 15 ± 2.9 years. Prophylactic abdominal hysterectomy was the most common procedure, and the justifications for it were "fertility control", "menstrual hygiene management", and "risk of sexual abuse". A qualitative analysis of 15 focus groups revealed that parents' main concern was how to manage their daughters' index disease and reproductive health; they perceived menstruation positively; they expressed their fear of dying and leaving them without support, and emphasized fertility control; none of them approved hysterectomy. Conclusions: The bodies that define health policies need to create a new philosophy that avoids the reductionist approach of current biomedical model, which separates (in the health-disease process) our interdependence with other humans.

Antecedentes: La histerectomía no terapéutica en niñas y adolescentes con discapacidad intelectual (DI) es una práctica aceptable, aun cuando se carece de razón ética prescriptiva. Objetivos: Determinar la magnitud de la práctica de la histerectomía en niñas y adolescentes con DI, y explorar los factores emic asociados a esta práctica. Material y métodos: Estudio multicéntrico e intersectorial con método mixto. Resultados: Los resultados cuantitativos mostraron que 50 de 234 histerectomías reportadas correspondieron a mujeres con DI. El promedio de edad a la cirugía fue de 15 ± 2.9 años. La histerectomía abdominal profiláctica fue el procedimiento predominante y las justificaciones fueron control de fertilidad, manejo de la higiene menstrual y riesgo de abuso sexual. El análisis cualitativo de 15 grupos focales reveló que la principal preocupación de los padres fue cómo manejar la enfermedad índice y la salud reproductiva de sus hijas; percibieron positivamente la menstruación, expresaron su miedo a morir y dejarlas sin ayuda, resaltaron el control de la fertilidad y ninguno aprobó la histerectomía. Conclusiones: Los organismos que definen políticas de salud necesitan crear una nueva filosofía que evite el enfoque reduccionista del actual modelo biomédico, el cual separa (en el proceso salud-enfermedad) la interdependencia entre los seres humanos.

Overexpression of miR-25 Downregulates the Expression of ROBO2 in Idiopathic Intellectual Disability.

Idiopathic intellectual disability (IID) encompasses the cases of intellectual disability (ID) without a known cause and represents approximately 50% of all cases. Neural progenitor cells (NPCs) from the olfactory neuroepithelium (NEO) contain the same information as the cells found in the brain, but they are more accessible. Some miRNAs have been identified and associated with ID of known etiology. However, in idiopathic ID, the effect of miRNAs is poorly understood. The aim of this study was to determine the miRNAs regulating the expression of mRNAs that may be involved in development of IID. Expression profiles were obtained using NPC-NEO cells from IID patients and healthy controls by microarray. A total of 796 miRNAs and 28,869 mRNAs were analyzed. Several miRNAs were overexpressed in the IID patients compared to controls. miR-25 had the greatest expression. In silico analysis showed that ROBO2 was the target for miR-25, with the highest specificity and being the most down-regulated. In vitro assay showed an increase of miR-25 expression induced a decrease in ROBO2 expression. In neurodevelopment, ROBO2 plays a crucial role in episodic learning and memory, so its down-regulation, caused by miR-25, could have a fundamental role in the intellectual disability that, until now, has been considered idiopathic.

Case Report: Expanding the phenotypic spectrum of PURA syndrome in South America with the first presentation of concurrent vitiligo.

Purine-rich element-binding protein A (PURα) regulates multiple cellular processes. Rare de novo mutations can lead to PURA syndrome, which manifests as a range of multisystem disturbances, including hypotonia, global developmental delay, swallowing disorders, apnea, seizures, visual impairments, and congenital heart defects. We report the case of a Colombian girl with no relevant medical history who was diagnosed with PURA syndrome at the age of 7, due to a heterozygous mutation located at 5q31.2, specifically the variant c.697_699del (p.Phe233del), in exon 1 of the PURA gene. This represents the first documented case of PURA syndrome in South America and the first association of the syndrome with vitiligo, thereby expanding the known phenotypic spectrum. In addition to enriching the literature concerning the phenotypic diversity of PURA syndrome, this report highlights, for the first time, the diagnostic challenges faced by developing countries like Colombia in diagnosing high-burden rare diseases such as PURA syndrome.

Vulnerabilities, care, and exposure to illness risks among people with intellectual disabilities in Brazil during the COVID-19 pandemic (2020-2021).

People with intellectual disabilities, especially those who require care, are among the most affected by severe forms of COVID-19 and COVID-19- related deaths. In this study we investigated how care needs and other vulnerabilities influence the possibility COVID-19 infection among people with intellectual disabilities in Brazil. Method: Descriptive quantitative study using an online questionnaire answered by 2,800 respondents with intellectual disabilities over the age of sixteen. Results: Individuals with a greater need for care had higher frequencies of positive COVID-19 diagnoses (6.5%-8%) and were approximately six times more likely to be infected by family members than those who did not have COVID-19 in the family. Conclusions: There is a need for specific government measures to protect people with intellectual disabilities and their caregivers, because those with greater care needs are the most exposed to risks of contagion and sickness and have potential vectors of infection among family members and caregivers.

Effects of a physical education intervention on attention and inhibitory control in Ecuadorian children with intellectual disabilities.

Background: Studies on physical activity interventions indicated a facilitative effect on cognitive performance in persons with intellectual disabilities; however, research is scarce, especially in low/middle-income countries. Aim: We explored the effects of a 6-week enriched physical education program on inhibitory control and attention functions in Ecuadorian children with intellectual disabilities. Methods: Thirty children with mild intellectual disabilities (10-14 years old) were randomly assigned to an intervention or control group. Before and after the intervention, attention and inhibitory control were measured using computer-based nonverbal tasks. Results: The findings showed significantly more accurate and faster responses in the vigilance task in the intervention group than in the controls. There were no significant intervention-related changes in inhibitory control; however, there were more prominent accuracy tendencies toward improvement in the intervention group. Conclusions: Results provide evidence of the potential of physical activity programs to enhance attention in this population, which could serve as a mediator for inhibitory control.

Brazilian special olympics athletes: Oral health problems.

AIMS: The people with intellectual disabilities have been reported to be a vulnerable population in terms of oral health. This study was carried out to determine the oral health condition and treatment needs of Special Olympics athletes in Brazil. METHODS: This study is a retrospective review of oral health data collected from athletes participating in Healthy Athletes Program Special Olympics in Brazil, between the years 2015 and 2019. About 1241 athletes from the Brazil Special Olympics program were screened in the cities of São Paulo, Jundiai and Belo Horizonte (located in southeastern Brazil) and Recife (in northeastern Brazil). At each of these events, volunteer dental professionals performed an oral health screening for each athlete, All oral health assessments were done visually; and extra lighting were available if needed. The examinations were performed with the aid of a wooden spatula of the tongue depressor type and under natural light. The following parameters were recorded: mouth pain, untreated tooth decay, missing teeth, gingival signs, urgency and mouth hygiene habits. Data was analyzed using the STATA 14.0 program. Frequency tables were used for descriptive analyses. Categorical variables were compared between the different years of the event using the Chi-Square or Fisher's Exact test. Continuous variables were compared between different event years using the Kruskal-Wallis test followed by Dunn's post-hoc analyses. Simple logistic regression was used to assess the effect of age on dental assessment results. For all tests, a p-value was considered significant when less than or equal to .05. RESULTS: No statistically significant differences were observed in the frequencies of Mouth Pain and Missing Teeth over the years (p > .05). In relation to Untreated Tooth Decay, there is a higher frequency in the years 2016 and 2018 and a lower frequency in the year 2015 (p = .048). Regarding Gingival Signs of inflammation, there is a higher frequency in the years 2016 and 2018 and a lower frequency in the year 2017 (p < .001). In relation to cases of urgency (in need of treatment (Urgent treatment need, Non-Urgent or Maintenance)), there was a higher frequency (no urgency) in 2016 (p = .007). Finally, in relation to mouth hygiene habits, there is a higher frequency of participants with irregular habits in the years 2017 and 2019 (p < .001). CONCLUSION: The dental condition of Brazilian athletes Special Olympycs Brazil reported in this study from 2015 to 2019 showed us that athletes have a high prevalence of dental diseases and these needs could contribute to health damage. The athletes have many unmet dental treatment needs and these needs are similar in different regions of the country and in the years reported.

Impairments and related social inequalities among adults: a population-based study in São Paulo city, Brazil / Deficiências e desigualdades sociais entre adultos: um estudo de base populacional na cidade de São Paulo, Brasil

Abstract The study of the association of social variables with the prevalence of impairments can provide subsidies for more adequate care and health policies for the most needy people by incorporating social aspects. This article aims to estimate the prevalence of diverse types of impairments, the degree of difficulty, limitations, and the need for help they cause and attest whether this prevalence differ by educational attainment in individuals aged 20 years or older. This is a populational cross-sectional study (2015 Health Survey of São Paulo-ISA Capital). Data from 3184 individuals were analyzed via educational attainment as exposure variable and outcome variables related to visual, hearing, intellectual, and mobility impairments. 19.9% of participants had visual, 7.8%, hearing, 2.7%, intellectual, and 7.4%, mobility impairments. Mobility and intellectual impairments limited participants' daily activities the most, 70.3% and 63.3%, respectively; who, thus, needed the most help: 48.9% and 48.5%, respectively. Lower schooling was associated with a higher prevalence of impairments, greater need for help due to visual and intellectual impairments, and greater limitations due to hearing and visual impairments.

Resumo O estudo da associação de variáveis ​​sociais com a prevalência de deficiências pode fornecer subsídios para uma atenção e políticas de saúde mais adequadas às pessoas mais carentes ao incorporar aspectos sociais. O objetivo deste artigo é estimar a prevalência de diversos tipos de deficiências, o grau de dificuldade, as limitações e a necessidade de ajuda e verificar se essa prevalência difere por escolaridade em indivíduos com 20 anos ou mais. Trata-se de um estudo transversal populacional (Inquérito de Saúde de São Paulo 2015 - ISA-Capital). Os dados de 3.184 indivíduos foram analisados ​​com a escolaridade como variável de exposição relacionada às deficiências visuais, auditivas, intelectuais e de mobilidade. Dezenove vírgula nove por cento dos participantes apresentavam deficiência visual, 7,8% auditiva, 2,7% intelectual e 7,4% de mobilidade. Mobilidade e deficiência intelectual foram as que mais limitaram as atividades diárias, 70,3% e 63,3%, respectivamente, sendo, portanto, as que mais necessitaram de ajuda: 48,9% e 48,5%, respectivamente. Menor nível de escolaridade mostrou associação com maior prevalência de deficiências, maior necessidade de ajuda por deficiência visual e intelectual e maiores limitações por deficiência auditiva e visual.

Orthodontic treatment of a patient with special needs: a case report / Tratamento ortodôntico de um paciente com necessidades especiais: um relato de caso

ABSTRACT This report presents the case of an adult patient with mental and intellectual limitations, whose main complaint was dental aesthetics. Dental treatment was performed at the Piracicaba Dental School and approved by the Ethics Committee (CAAE: 65752322.2.0000.5418). Clinically, the patient had inadequacies in the dental arrangement, with periodontal involvement that put the dental elements at risk. In intraoral clinical aspects, the deficiency was identified as maxillary atresia. The buccolingual inclination of the mandibular anterior teeth highlighted the severe crowding and anterior crossing of these teeth. Dental treatment was carried out aiming at the remission of periodontal and orthodontic problems in an integrated manner and with approaches that allowed greater interaction, participation, and patient compliance during treatment. Supra and subgingival scrapings and extraction of the upper left lateral incisor were performed. After three months of periodontal treatment, orthodontic treatment was started with fixed orthodontic appliances. The main objective was to level and align the teeth in both arches to achieve better aesthetic and functional conditions. Due to the COVID-19 pandemic, treatment has been discontinued. This resulted in the regression of the results obtained, including regarding self-care. People with disabilities require dental care with specific strategies for their needs, which must be carried out by a multidisciplinary team. Despite the access limitation imposed by the pandemic, the patient reestablished his motivation to restart treatment, which was facilitated by the bond of trust established between him and the team.

RESUMO Este relato apresenta o caso de um paciente adulto com limitações mentais e intelectuais, cuja queixa principal era a estética dental. O tratamento odontológico foi realizado na Faculdade de Odontologia de Piracicaba e aprovado pelo Comitê de Ética (CAAE: 65752322.2.0000.5418). Clinicamente, o paciente apresentava inadequações no arranjo dentário, com comprometimento periodontal, que colocava em risco os elementos dentais. Nos aspectos clínicos intrabucais, a deficiência foi identificada como atresia maxilar. A inclinação vestíbulo-lingual dos dentes anteriores inferiores destacou o apinhamento severo e o cruzamento anterior desses dentes. O tratamento odontológico foi realizado visando à remissão dos problemas periodontais e ortodônticos de forma integrada e com abordagens que permitissem maior interação, participação e adesão do paciente durante o tratamento. Foram realizadas raspagens supra e subgengivais e extração do incisivo lateral superior esquerdo. Após três meses de tratamento periodontal, iniciou-se o tratamento ortodôntico com aparelhos ortodônticos fixos. O objetivo principal foi nivelar e alinhar os dentes em ambas as arcadas para alcançar melhores condições estéticas e funcionais. Devido à pandemia de COVID-19, o tratamento foi interrompido. Isso resultou na regressão dos resultados obtidos, inclusive quanto ao autocuidado. As pessoas com deficiência requerem atendimento odontológico com estratégias específicas para suas necessidades, que devem ser realizadas por uma equipe multidisciplinar. Apesar da limitação de acesso imposta pela pandemia, o paciente restabeleceu sua motivação para reiniciar o tratamento, o que foi facilitado pelo vínculo de confiança estabelecido entre ele e a equipe.

Pessoa com Deficiência Intelectual e o Ambiente de Trabalho / Person with Intellectual Disability and Work Environment

RESUMO: O objetivo deste estudo foi identificar a compreensão das pessoas com deficiência intelectual sobre o ambiente de trabalho. A pesquisa foi realizada na perspectiva da psicologia histórico-cultural, em uma metodologia qualitativa, com participação de quatro pessoas com deficiência intelectual, maiores de 18 anos, por meio de entrevistas semiestruturadas de perspectiva narrativa. Os resultados indicaram que o conceito complexo Inclusão no Mercado de Trabalho foi formado por sete temas iniciais (sentido do trabalho; relações interpessoais; facilidades no trabalho; dificuldades no trabalho; autopercepção - significado da deficiência intelectual; percepção do outro em relação à pessoa com deficiência intelectual; e perspectivas laborais), que, por sua vez, foram organizados em cinco temas complexos (sentido do trabalho, relações interpessoais, políticas públicas, barreiras atitudinais e perspectivas laborais). A análise da formação conceitual indica que as narrativas apresentaram diversas conotações sobre a inclusão no ambiente de trabalho, sendo um importante espaço de desenvolvimento humano. Concluiu-se que a implementação de estudos com vistas à compreensão da inclusão no mercado de trabalho torna-se relevante para a compreensão do desenvolvimento humano e para a implementação e o planejamento de políticas públicas de inclusão.

ABSTRACT: The objective of this study was to identify the understanding of people with intellectual disability about the work environment. The research was carried out from the perspective of the historical-cultural psychology, in a qualitative methodology, with the participation of four adults with intellectual disabilities, over 18 years old, through semi-structured interviews with a narrative perspective. The results indicated that the complex concept Inclusion in the Labor Market was formed by seven initial themes (meaning of work; interpersonal relationships; facilities at work; difficulties at work; self-perception - meaning of intellectual disability; perception of the other in relation to the person with intellectual disabilities; and labor perspectives), which in turn were organized into five complex themes (meaning of work, interpersonal relationships, public policies, attitudinal barriers and labor perspectives). The analysis of the conceptual formation indicates that the narratives had several connotations about inclusion in the work environment, which is an important space for human development. It was concluded that the implementation of studies with a view to understanding inclusion in the labor market becomes relevant for the understanding of human development and for the implementation and planning of inclusion public policies.

Cenas Musicais na Associação de Pais e Amigos dos Excepcionais de São João Del-Rei (MG): uma Leitura Fenomenológica das Aulas de Musicalização para Crianças com Diversidade Funcional Intelectual / Music Scenes at the Association of Parents and Friends of Exceptional Children From São João Del-Rei (MG): a Phenomenological Approach of the Music Lessons for Children with Intelectual Functional Diversity

RESUMO: Este ensaio é fruto da experiência da primeira autora como educadora musical e coordenadora do Programa de Extensão "Música na Apae" da Universidade Federal de São João del-Rei, Minas Gerais. Apresentamos, aqui, algumas reflexões que deram origem à sua pesquisa de Doutorado, pautadas na abordagem fenomenológica, principalmente do filósofo Maurice Merleau-Ponty. A concepção fenomenológica de educação e a atitude mais aberta para enxergar a criança com Diversidade Funcional Intelectual [DFI] na sua expressividade musical genuína guiaram nosso olhar e orientaram as descrições das cenas aqui apresentadas, representando um momento de reflexão e, também, de autocrítica do educador, que está sempre em busca de meios, os quais possam ampliar a aprendizagem das crianças com DFI e torná-la mais significativa. Utilizamos o material de registro das aulas, como os diários de campo e gravações, que foram feitos para a documentação do desenvolvimento do Programa. Os resultados desse primeiro momento exploratório, como a potencialização da musicalidade e o desenvolvimento rítmico e da expressividade musical, indicam que um olhar mais atento ao fenômeno e ao sujeito em situação pode proporcionar uma aprendizagem musical mais significativa e mais adequada à maneira diversa de ser dessas crianças.

ABSTRACT: This essay is the result of the first author's experience as a music educator and coordinator of the Extension Program "Música na APAE" from the Universidade Federal de São João del-Rei, Minas Gerais, Brazil. Here, we present some reflections that have originated from her Doctoral research, based on the phenomenological approach, primarily influenced by the philosopher Maurice Merleau-Ponty. The phenomenological conception of education and a more open attitude toward perceiving children with Intellectual Functional Diversity [IFD] in their genuine musical expressiveness have guided our perspective and the scene descriptions presented, representing a moment of reflection and self-criticism for the educator who is always seeking means to enhance the learning of children with IFD and make it more meaningful. We used class registration material, such as field diaries and recordings, which were produced to document the development of the Program. The results of this initial exploratory phase, such as the enhancement of musicality, rhythmic development and musical expressiveness, indicate that a more attentive approach to the phenomenon and the individual in the situation can foster a more meaningful and appropriate musical learning experience to the diverse way of being of these children.