Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 2.285
Filter
1.
Article in Portuguese | LILACS | ID: biblio-1371446

ABSTRACT

O objetivo deste estudo foi analisar os desafios e possibilidades que emergiram na implementação de um programa de futsal para adultos com deficiência intelectual (DI). Pautado em uma representação de jogo (árvore de decisão) e nas perspectivas táticas de ensino, o programa foi permeado de obstáculos e desafios acerca das estratégias utilizadas para favorecer a compreensão de conceitos, heurísticas e ações de jogo (presentes na árvore de decisão e trabalhados a partir de jogos reduzidos e do jogo formal), exigindo adequações metodológicas no decorrer do programa, que vieram a contribuir com o desenvolvimento dos alunos no contexto do jogo (AU).


The aim of this study was to analyze the challenges and possibilities that emerged in the implementation of a futsal program for adults with intellectual disabilities (ID). Based on a game representation (decision tree) and teaching tactical perspectives, the program was permeated with obstacles and challenges related to the teaching strategies used to contribute to the understanding of the concepts, heuristics and actions of the game (present in the decision tree and worked on from reduced games and formal games) requiring methodological adjustments throughout the program, which came to contribute to the development of students in the context of the game (AU).


El objetivo de este estudio fue analizar los desafíos y posibilidades que surgieron en la implementación de un programa de fútbol sala para adultos con discapacidad intelectual (DI). Basado en una representación del juego (árbol de decisiones) y la enseñanza de perspectivas tácticas, el programa estuvo impregnado de obstáculos y desafíos en cuanto a las estrategias utilizadas para favorecer la comprensión de conceptos, heurísticas y acciones del juego (presentes en el árbol de decisiones y trabajadas desde juegos reducidos y juegos formales) requiriendo ajustes metodológicos a lo largo del programa, que llegaron a contribuir al desarrollo de los estudiantes en el contexto del juego (AU).


Subject(s)
Humans , Play and Playthings , Teaching , Adaptation, Psychological , Health Strategies , Persons with Mental Disabilities , Intellectual Disability
2.
Aval. psicol ; 20(3): 361-368, jul.-set. 2021. tab
Article in Portuguese | LILACS, INDEXPSI | ID: biblio-1345371

ABSTRACT

A Deficiência Intelectual (DI) é caracterizada por limitações de inteligência e comportamento adaptativo, que se originam no período desenvolvimental. O comportamento adaptativo (CA) representa o conjunto de habilidades conceituais, sociais e práticas que são aprendidas e executadas por pessoas em suas atividades diárias. Este estudo teórico objetiva discutir a importância do exame do CA na avaliação psicológica de pessoas com DI. É abordado o papel desse exame no diagnóstico, na classificação de gravidade e no planejamento de intervenções e são fornecidas orientações sobre procedimentos e ferramentas de avaliação do CA. As considerações finais situam o conhecimento sobre o CA como uma ferramenta indispensável ao psicólogo que trabalha com a avaliação psicológica da DI e aponta a necessidade de pesquisas de adaptação ou construção de medidas de CA validadas para o Brasil. (AU)


Intellectual Disability (ID) is characterized by limitations of intelligence and adaptive behavior originating in the developmental period. Adaptive behavior represents the set of conceptual, social and practical skills learned and used by people in their daily activities. This theoretical study aims to discuss the importance of examining adaptive behavior in the psychological assessment of people with ID. The role of this examination in the diagnosis, severity classification, and intervention planning is also addressed. Guidance on procedures and tools for assessing adaptive behavior is provided. Final considerations place knowledge about adaptive behavior as an indispensable tool for the psychologist that works evaluating ID and emphasize the need for adaptation or construction of validated adaptive behavior measures for Brazil. (AU)


La Discapacidad Intelectual (DI) se caracteriza por limitaciones de inteligencia y conducta adaptativa (CA) que se originan en el período de desarrollo. La CA representa el conjunto de habilidades conceptuales, sociales y prácticas que las personas aprenden y realizan en sus actividades diarias. Este estudio teórico tiene como objetivo discutir la importancia de examinar la CA en la evaluación psicológica de las personas con DI. Se discute el papel de este examen en el diagnóstico, la clasificación de la gravedad y la planificación de la intervención; asimismo, se proporciona orientación sobre procedimientos y herramientas para evaluar la conducta adaptativa. Las consideraciones finales sitúan el conocimiento sobre la CA como una herramienta indispensable para el profesional que trabaja con la evaluación psicológica de la DI y señala la necesidad de investigación de la adaptación o construcción de medidas de CA validadas para Brasil. (AU)


Subject(s)
Intelligence Tests , Intellectual Disability/psychology , Activities of Daily Living/psychology , Social Skills
3.
Ciênc. Saúde Colet ; 26(7): 2793-2806, jul. 2021. tab, graf
Article in English, Portuguese | LILACS | ID: biblio-1278788

ABSTRACT

Resumo A efetivação de ações educativas, incluindo a prevenção da violência sexual, direcionadas à promoção dos direitos sexuais das jovens com deficiência intelectual, caracteriza-se como um desafio nos serviços que atendem este público. O objetivo deste artigo é validar, com juízes especialistas, a tecnologia educacional direcionada à prevenção do abuso sexual entre as jovens com deficiência intelectual. Trata-se de estudo de validação de conteúdo e aparência, realizado com 25 juízes. As informações foram coletadas através de questionário, considerando os domínios: objetivo, relevância, estrutura e apresentação. Os dados quantitativos foram analisados através do Índice de Validação de Conteúdo (IVC) e adotado o ponto de corte 0,80, enquanto os dados qualitativos foram submetidos à análise temática de conteúdo. A tecnologia educacional "Abuso não vai rolar: aprendendo a se proteger", foi subsidiada pelo referencial teórico de Vygotsky e é composta por um conjunto de materiais, incluindo livro de histórias e recursos de apoio (boneco, livreto e vídeo explicativo). Essa tecnologia foi validada pelos juízes, com um IVC total de 0,99, superior a 0,95 em todos os itens e domínios. Os juízes ressaltaram o caráter relevante e inovador da tecnologia, apresentando sugestões para sua potencialização.


Abstract The implementation of educational actions, including sexual violence prevention, aimed to promoting the sexual rights of young individuals with intellectual disabilities, can be characterized as a huge challenge in the services that assist this population. This article aims to validate, with expert judges, educational technology aimed at sexual abuse prevention among young individuals with ID. This is a content and display validation study, performed with 25 judges. The information was collected through a questionnaire, considering the domains: objective, relevance, structure and presentation. The quantitative data were analyzed using the Content Validation Index (CVI) and a cutoff point of 0,80 was adopted, while qualitative data were submitted to thematic content analysis. An educational technology "Abuse no more: learning to protect yourself", was subsidized by Vigotsky's theoretical framework and consists of a set of materials, including a storybook and support resources (dolls, booklet and explanatory video). This technology was validated by the judges, with a total CVI of 0,99, obtaining a CVI >0,95 in all items and domains. The judges highlighted the relevant and innovative nature of the technology, offering suggestions for its improvement.


Subject(s)
Humans , Adolescent , Intellectual Disability , Pamphlets , Technology , Surveys and Questionnaires , Educational Technology
4.
Rev. bras. orientac. prof ; 22(1): 51-60, jan.-jun. 2021. tab
Article in Portuguese | LILACS, INDEXPSI | ID: biblio-1351866

ABSTRACT

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.


Subject(s)
Humans , Male , Female , Adolescent , Students , Mentors , Career Choice , Surveys and Questionnaires , Social Inclusion , Intellectual Disability
5.
Rev. cuba. med. gen. integr ; 37(2): e1369, 2021. tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1352007

ABSTRACT

Introducción: Las enfermedades genéticas se corresponden con variaciones genéticas del desarrollo que precisan ayuda médica, educativa, social o combinaciones de estas. Objetivo: Caracterizar clínica y epidemiológicamente a los pacientes con enfermedades genéticas. Método: Estudio descriptivo transversal. El universo estuvo constituido por los 521 pacientes evaluados en la consulta de asesoramiento genético del municipio Mayarí y la muestra estuvo representada por los 216 pacientes portadores de enfermedades genéticas pertenecientes al Policlínico Universitario 26 de Julio; del Área de Salud de Mayarí, durante el año 2018. Resultados: Predominó el sexo femenino (53,24 por ciento), el grupo de edades de 41 a 50 años (18,06 por ciento), las enfermedades monogénicas (58,8 por ciento), los pacientes con síndrome de Down (20,37 por ciento), los pacientes que no cuentan con antecedentes familiares (54,63por ciento). Conclusiones: Prevalecieron los pacientes con discapacidad mental, con diagnóstico posnatal y con más de 20 años de diagnóstico. El mayor número no realizaba tratamiento. Los pacientes vinculados integralmente a la sociedad resultaron minoría, así como los que tenían antecedentes familiares de enfermedad genética(AU)


Introduction: Genetic diseases are due to developmental genetic variations that require medical, educational and social help, or combinations of these. Objective: To characterize, clinically and epidemiologically, patients with genetic diseases. Method: Descriptive and cross-sectional study. The universe was made up of the 521 patients assessed in the genetic counseling consultation of Mayarí Municipality and the sample was represented by the 216 patients with genetic diseases belonging to 26 de Julio University Polyclinic of the health area of Mayarí, during the year 2018. Results: The female sex predominated (53.24 percent), together with the age group 41-50 years (18.06 percent), monogenic diseases (58.8 percent), patients with Down syndrome (20.37 percent), and patients with no family history of diseases (54.63 percent). Conclusions: Patients with mental disabilities, with postnatal diagnosis and with more than twenty years of diagnosis prevailed. The largest number did not undergo treatment. Patients fully linked to society were a minority, as well as those with a family history of genetic disease(AU)


Subject(s)
Humans , Male , Female , Down Syndrome/genetics , Genetic Diseases, Inborn , Intellectual Disability/epidemiology , Epidemiology, Descriptive , Cross-Sectional Studies
6.
Rev. cienc. salud (Bogotá) ; 19(1): 1-21, ene.-abr. 2021. tab, graf
Article in Spanish | LILACS, COLNAL | ID: biblio-1289165

ABSTRACT

Resumen Introducción: en Ecuador existen parámetros de calificación de discapacidad basados en la Clasificación Internacional del Funcionamiento de la Discapacidad y la Salud; sin embargo, los avances en investigación en el ámbito de la psiquiatría y la salud mental aún son escasos. Se empleó la Escala de Evaluación de Discapacidad de la Organización Mundial de la Salud para determinar el grado de discapacidad en población consultante. Materiales y métodos : estudio observacional, de corte transversal y correlacional. Usando un muestreo por conveniencia, se recogió información sobre discapacidad en una muestra de 297 adultos con trastornos mentales graves en contacto con servicios ambulatorios de psiquiatría. Se estimó un modelo de regresión lineal que determinó el aporte de variables sociodemográficas, clínicas y sociales. Resultados: el 89.2 % de la muestra presentó algún grado de discapacidad. El modelo multivariado final para el total de la muestra incluyó las variables explicativas edad (p = -0.234), escolaridad (p = -0.552), ser pensionado (p = 39.44), presencia de episodio depresivo actual (p = 21.654) y tener cuidador (p = 9.574), que explican el 37.46 % de la discapacidad de las personas con trastornos mentales graves atendidas en servicios de psiquiatría y salud mental en Quito. Conclusión: la discapacidad en personas con trastornos mentales graves que están en contacto con servicios de salud de Quito (Ecuador) involucra cambios en el desempeño de actividades en escenarios familiares y comunitarios. Se identificó una proporción de discapacidad moderada y severa que demanda respuestas institucionales que incluyan el acompañamiento de cuidadores y aborden barreras actitudinales.


Abstract Introduction: In Ecuador, there are disability qualification parameters based on the International Classification of the Functioning of Disability and Health; however, advances in the research fields of psychiatry and mental health are still scarce. For this particular study, The World Health Organization Disability Assessment Scale was used to determine the degree of disability in the consulting population. Materials and methods: The study design was an observational, cross-sectional and correlational study. Using convenience sampling, disability information was collected from a study population of 297 adults with severe mental disorders who were in contact with outpatient psychiatric services. A linear regression model was used to determine the contribution of sociodemographic, clinical, and social variables. Results: It was observed that 89.2% of the sample presented some degree of disability. The final multivariate model for the total sample included the explanatory variables of age (p = -0.234), schooling (P = -0.552), being retired (p = 39.44), presence of current depressive episode (p = 21.654), and having a caregiver (p = 9.574), which explained 37.46% of disability in people with serious mental disorders who were treated in psychiatric and mental health services in Quito. Conclusion: Disabilities in people with severe mental disorders who are in contact with health services in Quito (Ecuador) may involve changes in the performance of activities among family and community settings. We identified a proportion of moderate and severe disabilities that demand institutional responses, which includes the accompaniment of caregivers and also addresses attitudinal barriers.


Resumo Introdução: no Equador, existem parâmetros de qualificação de deficiência com base na Classificação Internacional do Funcionamento da Deficiência e da Saúde; no entanto, avanços em pesquisas no âmbito da psiquiatria e saúde mental ainda são escassos. Empregou-se a Escala de Avaliação da Deficiência da Organização Mundial da Saúde, para se determinar o grau de deficiência na população avaliada. Materiais e métodos: estudo observacional, de corte transversal e correlacional. Usando uma amostragem por conveniência coletou-se informação sobre deficiência em uma amostra de 297 adultos com transtornos mentais graves em contato com serviços ambulatórios em psiquiatria. Estimou-se um modelo de regressão linear que determinou a contribuição de variáveis sociodemográficas, clínicas e sociais. Resultados: 89.2% da amostra apresentou algum grau de deficiência. O modelo multivariado final para o total da amostra incluiu as variáveis explicativas idade (p=-0,234), escolaridade (p=-0,552), ser aposentado (p=39,44), presença de episódio depressivo atual (p=21,654) e, ter cuidador (p=9,574), explicando 37,46% da deficiência em pessoas com transtornos mentais graves atendidas em serviços de psiquiatria e saúde mental em Quito. Conclusão: A deficiência em pessoas com transtornos mentais graves que estão em contato com serviços de saúde em Quito (Equador) envolve mudanças no desempenho de atividades em cenários familiares e comunitários. Identificou-se uma proporção de deficiência moderada e severa que demandam respostas institucionais que inclua o acompanhamento de cuidadores e abordem barreiras de atitude.


Subject(s)
Humans , Mental Disorders , Disability Evaluation , Ecuador , Intellectual Disability
7.
Licere (Online) ; 24(1): 447-476, 20210317. ilus
Article in Portuguese | LILACS | ID: biblio-1252744

ABSTRACT

Este artigo visa identificar as barreiras e os facilitadores para que as pessoas com deficiência intelectual possam andar sozinhas no tempo/espaço de lazer nas cidades, especificamente, em Curitiba. Participaram do estudo 37 pessoas, sendo 14 integrantes do Grupo Amigos do Handebol; 13 sujeitos responsáveis por esses jovens; 6 gestores da prefeitura de Curitiba e 4 representantes da equipe pedagógicas de escolas especializadas frequentadas pelos integrantes do grupo. Foi observado que os integrantes do grupo Amigos do Handebol que participaram efetivamente dos encontros propostos aprenderam a se locomover ampliando o aprendizado com ênfase ao estímulo para o desenvolvimento da autonomia. Essa autonomia deve ser incentivada e pode gerar oportunidades, principalmente no âmbito do lazer.


The purpose of this article was to identify barriers and facilitators for people with intellectual disabilities to walk alone in leisure time/space in cities, specifically in Curitiba. 37 people participated in the study, being 14 members of the The purpose of this article was to identify barriers and facilitators for people with intellectual disabilities to walk alone in leisure time/space in cities, specifically in Curitiba. 37 people participated in the study, being 14 members of the Amigos do Handebol Group; 13 subjects responsible for these young people; 6 managers of the Curitiba city hall and 4 representatives of the pedagogical team of specialized schools attended by the group members. It was observed that the members of the Amigos do Handebol group who effectively participated in the proposed meetings learned to move around expanding learning with emphasis on stimulating the development of autonomy. This autonomy should be encouraged and can generate opportunities, especially in the field of leisure.


Subject(s)
Intellectual Disability , Leisure Activities
8.
Med. infant ; 28(1): 3-9, Marzo 2021. ilus, Tab
Article in Spanish | LILACS, BINACIS, UNISALUD | ID: biblio-1282207

ABSTRACT

Introducción: Existen pocos estudios sobre la evolución del retraso global del desarrollo (RGD), por lo que se cuestiona su valor pronóstico. Objetivo: Describir la evolución cognitiva en la edad escolar de niños con diagnóstico inicial de RGD. Pacientes y Métodos: Estudio observacional, transversal, con análisis prospectivo y retrospectivo. Fueron incluidos niños de seis a once años de edad, con diagnóstico previo de RGD. La variable punto final fue la presencia o no del déficit cognitivo (menor a dos desvíos estándares en las pruebas cognitivas), se realizó análisis con el paquete estadístico R. Resultados: Se estudiaron 150 pacientes con diagnóstico inicial de RGD, 86 con compromiso leve y 64 moderado-severo. El déficit cognitivo persistió en 75 pacientes (50%), 34.8% en el grupo leve y 70.3% en el moderado-severo Del resto, un 13% tuvo rendimiento promedio, un 20%, limítrofe y el 17% perfil discrepante. El análisis univariado identificó cuatro factores de riesgo asociados a persistencia del compromiso cognitivo: el grado de compromiso inicial moderado/severo (OR 4,59, 2,24-9,78), el tiempo de tratamiento menor a tres años (OR 2,30 1,02-5,34), las necesidades básicas insatisfechas (OR 1,62 0,76-3,47) y la presencia de síndrome genético (OR 2,99 1,09-8,99). El modelo de regresión logística con mayor poder explicativo incluyó estas cuatro variables (p 0.9998). Conclusiones: La trayectoria cognitiva mostró un 50 % de persistencia del déficit cognitivo. El grado de compromiso inicial, la duración del tratamiento, las necesidades básicas insatisfechas y la presencia de un síndrome genético asociado mostraron asociación con la persistencia del mismo (AU)


Introduction: Studies on the outcome of global developmental delay (GDD) are scarce, and therefore, their prognostic value is questionable. Objective: To describe the cognitive outcome at school age of children initially diagnosed with GDD. Patients and Methods: Cross-sectional, observational study with a prospective and retrospective analysis. Children between six and 11 years of age with a previous diagnosis of GDD were included. The endpoint variable was the presence or not of a cognitive deficit (two standard deviations below the mean on cognitive tests). Analyses were performed using the R Statistical Software. Results: 150 patients with an initial diagnosis of GDD were studied, 86 with mild and 64 with moderate-to-severe involvement. The cognitive deficit persisted in 75 patients (50%); 34.8% of whom were in the mild and 70.3% in the moderate-to-severe group. Of the remaining patients, performance was average in 13%, borderline in 20%, and the profile was discrepant in 17%. Univariate analysis identified four risk factors associated with persistence of the cognitive deficit: initial moderate-to-severe degree of the deficit (OR 4.59, 2.24-9.78), treatment duration less than three years (OR 2.30, 1.02-5.34), unsatisfied basic needs (OR 1.62, 0.76- 3.47), and presence of a genetic syndrome (OR 2.99, 1.09-8.99). The logistic regression model with the strongest explanatory power included these four variables (p 0.9998). Conclusions: In 50% the cognitive course showed a persistent cognitive deficit. The degree of initial compromise, treatment duration, unsatisfied basic needs, and presence of a genetic syndrome were associated with persistence of the deficit. (AU)


Subject(s)
Humans , Child , Child Development , Child Development Disorders, Pervasive/complications , Child Development Disorders, Pervasive/diagnosis , Risk Factors , Intellectual Disability/diagnosis , Prospective Studies , Retrospective Studies
9.
Article in Chinese | WPRIM | ID: wpr-922022

ABSTRACT

OBJECTIVE@#To analyze the clinical features and genetic basis of three children with mental retardation, language impairment and autistic features due to de novo variants of FOXP1 gene.@*METHODS@#Clinical data of the children were collected.Trio-whole exome sequencing was carried out for the children and their parents. Pathogenicity of the variants was analyzed through bioinformatics prediction.@*RESULTS@#All of the children had various degrees of mental retardation in conjunct with language deficit, global developmental delay, abnormal behavior and peculiar facial features, among whom two also developed autism spectrum disorders. The results of genetic testing showed that all three children harbored de novo variants of the FOXP1 gene, namely c.613_c.614delCTinsTA, c.1248delC and c.1393A>G. Two of these were frameshift variants and one was missense variant, which were all rated as pathogenic based on the guidelines of the American College of Medical Genetics (ACMG). Database search suggested that c.613_c.614delCTinsTA and c.1248delC were unreported previously.@*CONCLUSION@#For the three children from unrelated families with mental retardation in conjunct with language deficit, global growth delay, abnormal behavior and peculiar facial features, the c.613_ c. 614delCTinsTA, c.1248delC and c.1393A>G variants of the FOXP1 gene may be the pathogenic factors. Above cases have further expanded the genotype-phenotype profile of FOXP1 deficiency syndrome.


Subject(s)
Autistic Disorder/genetics , Child , Forkhead Transcription Factors/genetics , Genetic Testing , Humans , Intellectual Disability/genetics , Language Development Disorders/genetics , Repressor Proteins/genetics , Whole Exome Sequencing
10.
Article in Chinese | WPRIM | ID: wpr-921979

ABSTRACT

OBJECTIVE@#Two brothes with Seckel's syndrome 1(SCKL1) were reported and a literature review was carried to provide clinical and genetic information of this rare disease.@*METHODS@#Clinical data of the two children were collected, and the peripheral blood was extracted for whole exome sequencing. Literature of the disease were reviewed.@*RESULTS@#The two patients were 11 years and 9.5 years old when examined for short stature. They presented with intrauterine growth retardation, intellectual disability, microcephaly, birdhead-like face and coffee au lait spots. The bone age was more than 2 years behind the chronical age and the growth hormone levels were normal. Whole exome sequencing revealed novel compound heterozygous variants c.1A>G (p.M1?) and c.4853-18A>G of ART gene in both children.@*CONCLUSION@#Children with prenatal onset short stature, developmental delay, microcephaly and special facial featuresshould be considered for the possibility of Seckel's syndrome, whole exome sequencing could help to confirm the clinical diagnosis.


Subject(s)
Ataxia Telangiectasia Mutated Proteins/genetics , Child , Dwarfism/genetics , Humans , Intellectual Disability/genetics , Male , Microcephaly/genetics , Siblings , Whole Exome Sequencing
11.
Article in Chinese | WPRIM | ID: wpr-921970

ABSTRACT

OBJECTIVE@#To describe a family with intellectual developmental disorder with autism and speech delay (IDDAS) caused by a splice variant of TBR1 gene.@*METHODS@#A pregnant women with mental retardation, who also had a family history of mental retardation, was admitted to Prenatal Diagnosis Center of WanBei Coal and Electricity Group General Hospital Corporation in April 2019. Molecular genetic tests were performed on the pregnant women and ten other family members to analyze the pathogenic genotype. Functional assays of the pathogenic variant was carried out by minigene technology. With the determination of the genotype, prenatal diagnosis was carried out by amniotic fluid sampling.@*RESULTS@#Through whole exome sequencing, a novel splicing variant (c.1129-1G>C) was identified in the TBR1 gene of the proband, which has co-segregated with the disease phenotype in the family. The results of minigene assay showed abnormal splicing of exon 5. The variant was not detected in the fetal amniotic fluid. Fetal growth and development were normal one year after the birth.@*CONCLUSION@#The c.1129-1G>C variant of the TBR1 probably underlay the disease in of the pedigree. Timely prenatal genetic diagnosis and consultation can help to stop the transmission of the pathogenic variant.


Subject(s)
Autistic Disorder/genetics , China , Developmental Disabilities , Female , Humans , Infant , Intellectual Disability/genetics , Language Development Disorders , Pedigree , Pregnancy , T-Box Domain Proteins/genetics
12.
Article in Chinese | WPRIM | ID: wpr-887477

ABSTRACT

OBJECTIVE@#To observe the effect of @*METHODS@#A total of 60 children with intellectual disability were randomly divided into an observation group (30 cases, 2 cases dropped off) and a control group (30 cases, 2 cases dropped off). In the control group, rehabilitation training and routine acupuncture were adopted, 30 min each time, once a day, 6 times a week for 3 months. On the base of the treatment as the control group, @*RESULTS@#Compared before treatment, the scores of DQ and ADL and the serum levels of DA, NE, 5-HT after treatment were increased (@*CONCLUSION@#On the base of rehabilitation training and routine acupuncture,


Subject(s)
Activities of Daily Living , Acupuncture Points , Acupuncture Therapy , Child , Humans , Intellectual Disability , Needles , Neurotransmitter Agents , Treatment Outcome
13.
Article in Chinese | WPRIM | ID: wpr-888394

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child with febrile seizures.@*METHODS@#Peripheral venous blood samples were taken from the child and his parents for the analysis of chromosomal karyotype and dynamic variant of the FMR1 gene. The family trio was also subjected to target capture and next generation sequencing (NGS) with a gene panel related to developmental retardation, mental retardation, language retardation, epilepsy and special facial features.@*RESULTS@#The child was found to have a normal karyotype by conventional cytogenetic analysis (400 bands). No abnormal expansion was found with the CGG repeats of the FMR1 gene. NGS revealed that the child has carried a heterozygous c.864+1 delG variant of the MEF2C gene, which may lead to abnormal splicing and affect its protein function. The same variant was found in neither parent, suggesting that it has a de novo origin. Based on the American College of Medical Genetics and Genomics standards and guidelines, c.864+1delG variant of MEF2C gene was predicted to be pathogenic (PVS1+PS2+PM2).@*CONCLUSION@#MEF2C, as the key gene for chromosome 5q14.3 deletion syndrome which was speculated as a cause for febrile seizures, has an autosomal dominant effect. The c.864+1delG variant of the MEF2C gene may account for the febrile seizures in this patient.


Subject(s)
Child , Chromosome Deletion , Chromosome Disorders , Epilepsy , Fragile X Mental Retardation Protein , Humans , Intellectual Disability/genetics , Karyotyping , MEF2 Transcription Factors/genetics
14.
Article in Chinese | WPRIM | ID: wpr-888370

ABSTRACT

OBJECTIVE@#To explore gender difference in the clinical manifestations of two children with Keishi-Bukuryo-Gan syndrome (KBGS).@*METHODS@#Clinical manifestations of the two children were reviewed. Genetic testing was carried out through next generation sequencing (NGS). Treatment was summarized, and the prognosis was followed up.@*RESULTS@#Both children showed particular appearance including megatooth, abnormal hair distribution, hands' abnormality and language development delay. NGS revealed that both children have carried pathogenic variants of the ANKRD11 gene (c.1903_1907del and c.4911delT), which resulted in shifting of amino acid sequences starting from the Lysine and Proline at positions 635 and 1638, respectively. The female patient exhibited central precocious puberty. Her height has increased by 13 cm, and sex characteristics has retracted after treatment with leuprorelin for 23 months and recombinant human growth hormone for 1 month.@*CONCLUSION@#Comparison of the two cases with different genders and summary of previously reported cases found that male KBGS patients have more obvious dysmorphisms such as triangular face, synophrys, ocular hypertelorism and vertebral body abnormality, with higher morbidity of epilepsy, mental retardation, autism, congenital heart disease, immune thrombocytopenia and other complications. KBGS is an autosomal dominant disease featuring more evident peculiar appearance and global development delay. Male patients often have multi-system involvement, and multidisciplinary cooperation is required for early recognition of particular features in order to improve the prognosis.


Subject(s)
Abnormalities, Multiple , Bone Diseases, Developmental , Child , Facies , Female , Humans , Intellectual Disability , Male , Phenotype , Repressor Proteins/genetics , Sex Characteristics , Tooth Abnormalities
15.
Article in Chinese | WPRIM | ID: wpr-879851

ABSTRACT

This is a case report on a 1-day-old male neonate admitted due to a weak cry for 1 day and recurrent circumoral cyanosis for 2 hours. He had unusual facial features at birth, with a single transverse palmar crease on both hands, flat feet, weak cry, feeding difficulties, congenital heart disease, and abnormality on cerebral MRI. Whole exome sequencing showed a


Subject(s)
Exons , Genetic Testing , Humans , Infant, Newborn , Intellectual Disability/genetics , Male , Mutation , Whole Exome Sequencing
16.
Article in Chinese | WPRIM | ID: wpr-879627

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child featuring global developmental delay.@*METHODS@#DNA was extracted from peripheral blood sample taken from the patient and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members.@*RESULTS@#A heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene was detected in the proband, which was a verified to be de novo in origin.@*CONCLUSION@#The heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene probably underlay the disease in this child.


Subject(s)
Arthrogryposis , Child , Family , GTP-Binding Protein beta Subunits , Heterozygote , Humans , Intellectual Disability/genetics , Whole Exome Sequencing
17.
Article in Chinese | WPRIM | ID: wpr-879626

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child suspected for Say-Barber-Biesecker-Young-Simpson syndrome.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the child and her parents. Whole exome sequencing was carried out for the proband. Suspected variants were validated by Sanger sequencing. The impact of the variants was predicted by bioinformatic analysis.@*RESULTS@#The child was found to harbor a de novo missense variant c.2623C>T (p.Asp875Tyr) in exon 13 of the KAT6B gene. The variant was previously unreported, and was not recorded in the major allele frequency database and predicted to be pathogenic based on PolyPhen-2, MutationTaster and PROVEAN analysis. As predicted by UCSF chimera and CASTp software, the variant can severely impact the substrate-binding pocket of histone acetyltransferase, resulting in loss of its enzymatic activity. Based on standards and guidelines by the American College of Medical Genetics and Genomics, the variant was classified to be likely pathogenic (PS2+PM2+PP3).@*CONCLUSION@#The child's condition may be attributed to the de novo missense c.2623C>T (p.Asp875Tyr) variant of the KAT6B gene.


Subject(s)
Blepharophimosis , Child , Congenital Hypothyroidism , Facies , Female , Heart Defects, Congenital , Histone Acetyltransferases/genetics , Humans , Intellectual Disability , Joint Instability , Mutation , Phenotype
18.
Article in Chinese | WPRIM | ID: wpr-879604

ABSTRACT

OBJECTIVE@#To summarize the clinical phenotype and genotype of a Chinese child affected with Mowat-Wilson syndrome (MWS).@*METHODS@#Clinical data of the patient were collected. The patient was analyzed by whole-exome sequencing (WES) as well as Sanger sequencing.@*RESULTS@#The patient was a male infant with recurrent fever and slow growth. He also had characteristic facies, recurrent spasm, and growth retardation. WES revealed that he has carried a heterozygous nonsense c.2609C>G (p.Ser870X) variant of the ZEB2 gene (30% mosaicism). Based on the American College of Medical Genetics and Genomics standards and guidelines, the variant was predicted to be pathogenic (PVS1+PS1+PS2+PM2).@*CONCLUSION@#The c.2609C>G variant of the ZEB2 gene probably underlay the MWS in this child. The mosaicism of the variant may explain his mild symptoms.


Subject(s)
Child , Facies , Hirschsprung Disease/genetics , Humans , Infant , Intellectual Disability/genetics , Male , Microcephaly/genetics , Mutation
19.
Article in Chinese | WPRIM | ID: wpr-879598

ABSTRACT

OBJECTIVE@#To analyze the (CGG)n repeats of FMR1 gene among patients with unexplained mental retardation.@*METHODS@#For 201 patients with unexplained mental retardation, the (CGG)n repeats of the FMR1 gene were analyzed by PCR and FragilEase@*RESULTS@#For the 201 patients with unexplained mental retardation, 15 were identified with full mutations of the FMR1 gene. The prevalence of fragile X syndrome (FXS) in patients with unexplained mental retardation was determined as 7.5% (15/201). Prenatal diagnosis was provided for 6 pregnant women with pre- or full mutations. Analysis revealed that women with mental retardation and full FMR1 mutations exhibited a skewed XCI pattern with primary expression of the X chromosome carrying the mutant allele.@*CONCLUSION@#FXS has a high incidence among patients with unexplained mental retardation. Analysis of FMR1 gene (CGG)n repeats in patients with unexplained mental retardation can facilitate genetic counseling and prenatal diagnosis for their families. FMR1 gene (CGG)n repeats screening should be recommended for patients with unexplained mental retardation.


Subject(s)
Female , Fragile X Mental Retardation Protein/genetics , Fragile X Syndrome/genetics , Humans , Intellectual Disability/genetics , Mutation , Pregnancy , Prenatal Diagnosis
20.
Article in Chinese | WPRIM | ID: wpr-879594

ABSTRACT

Chromosome microarray analysis (CMA) has become the first-tier testing for chromosomal abnormalities and copy number variations (CNV). This review described the clinical validation of CMA, the development and updating of technical standards and guidelines and their diagnostic impacts. The main focuses were on the development and updating of expert consensus, practice resources, and a series of technical standards and guidelines through systematic review of case series with CMA application in the literature. Expert consensus and practice resource supported the use of CMA as the first-tier testing for detecting chromosomal abnormalities and CNV in developmental and intellectual disabilities, multiple congenital anomalies and autism. The standards and guidelines have been applied to pre- and postnatal testing for constitutional CNV and tumor testing for acquired CNV. CMA has significantly improved the diagnostic yields but still needs to overcome its technical limitations and face challenges of new technologies. Guiding and governing CMA through expert consensus, practice resource, standards and guidelines in the United States has provided effective and safe diagnostic services to patients and their families, reliable diagnosis on related genetic diseases for clinical database and basic research, and references for clinical translation of new technologies.


Subject(s)
Child , Chromosome Aberrations , Chromosomes , DNA Copy Number Variations , Developmental Disabilities/genetics , Humans , Intellectual Disability/genetics , Microarray Analysis , United States
SELECTION OF CITATIONS
SEARCH DETAIL