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1.
Rev. inf. cient ; 99(1): 30-37, ene.-feb. 2020. tab, graf
Artigo em Espanhol | LILACS (Américas) | ID: biblio-1093927

RESUMO

RESUMEN Introducción: El tránsito de la familia por las etapas de ciclo vital tiene eventos que dinamizan la funcionabilidad familiar, tener un hijo diagnosticado con discapacidad intelectual irrumpe la dinámica. Objetivo: Diagnosticar la salud del familiar donde convive un discapacitado intelectual perteneciente a la Escuela Especial "José Antonio Echavarría" del municipio Guantánamo. Método: Se realizó un estudio descriptivo de corte transversal cuanticualitativo, en 45 familias de la Escuela Especial "José Antonio Echavarría" del municipio Guantánamo. Se utilizó el modelo teórico-metodológico de evaluación de la salud familiar que incluyó como instrumentos de evaluación, la prueba de percepción del funcionamiento familiar, inventario de características familiares de riesgo y la matriz familiar. Resultados: Según la ontogénesis de las familias predominaron las ampliadas para un 65,3 %, por la composición y estructura, las medianas, y por el número de generaciones, trigeneracional, para un 45,36 %. Las crisis paranormativas estaban presentes en 66,6 % de las familias al presentar desmembramiento, el 39,8 % por desmoralización, sólo el 4,4 % de las familias fue funcional. Según características familiares de riesgo las variables que más prevalecieron fueron procesos críticos normativos con un 95,5 %, procesos críticos de salud y procesos críticos paranormativos para un 100 %. El cruzamiento de los resultados dió lugar a la matriz de salud familiar. Conclusiones: Se reveló que es más frecuente la presencia de un niño discapacitado en familias disfuncionales, que de manera más común no satisfacen sus funciones.


ABSTRACT Introduction: The family's transit through the stages of the life cycle has events that boost family functionality, having a child diagnosed with intellectual disability breaks the dynamic. Objective: To diagnose the health of the family member where an intellectual disabled person belonging to the Special School "José Antonio Echavarría" of the Guantánamo municipality lives. Method: A descriptive study of a quantitative cross-sectional study was carried out in 45 families of the "José Antonio Echavarría" Special School of the Guantánamo municipality. The theoretical-methodological model of family health evaluation was used, which included as evaluation instruments, the proof of perception of family functioning, inventory of family risk characteristics and the family matrix. Results: According to the ontogenesis of the families, the ones extended by 65.3% predominated, by the composition and structure, the medium ones, and by the number of three-generational generations, for 45.36%. The paranormative crises were present in 66.6% of the families when presenting dismemberment, 39.8% due to demoralization, only 4.4% of the families were functional. According to family risk characteristics, the variables that prevailed most were critical regulatory processes with 95.5%, critical health processes and paranormal regulatory processes for 100%. The crossing of the results gave rise to the family health matrix. Conclusions: It was revealed that the presence of a disabled child is more frequent in dysfunctional families, which more commonly do not fulfill their functions.


RESUMO Introdução: O trânsito da família pelas etapas do ciclo de vida tem eventos que aumentam a funcionalidade da família, tendo um filho com diagnóstico de deficiência intelectual rompe a dinâmica. Objetivo: Diagnosticar a saúde do familiar onde mora uma pessoa com deficiência intelectual pertencente à Escola Especial "José Antonio Echavarría", do município de Guantánamo. Método: Foi realizado um estudo descritivo de um estudo transversal quantitativo em 45 famílias da Escola Especial "José Antonio Echavarría" do município de Guantánamo. Utilizou-se o modelo teórico-metodológico de avaliação em saúde da família, que incluiu como instrumentos de avaliação, a prova de percepção do funcionamento da família, inventário das características de risco familiar e matriz familiar. Resultados: De acordo com a ontogênese das famílias, as ampliadas em 65,3% predominaram, pela composição e estrutura, as médias e pelo número de três gerações geracionais, para 45,36%. As crises paranormativas estavam presentes em 66,6% das famílias quando apresentavam desmembramento, 39,8% devido à desmoralização, apenas 4,4% das famílias eram funcionais. De acordo com as características de risco familiar, as variáveis que mais prevaleceram foram processos regulatórios críticos com 95,5%, processos críticos de saúde e processos reguladores paranormais para 100%. O cruzamento dos resultados deu origem à matriz de saúde da família. Conclusões: Foi revelado que a presença de uma criança com deficiência é mais frequente em famílias disfuncionais, que mais comumente não cumprem suas funções.


Assuntos
Humanos , Saúde da Família , Crianças com Deficiência , Deficiência Intelectual/diagnóstico , Epidemiologia Descritiva , Estudos Transversais
2.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-811202

RESUMO

Cri-du-chat syndrome (CdCS) is caused by the deletion of the short arm of chromosome 5. Most patients with CdCS develop intellectual disabilities. Therefore, they have poor oral hygiene and a high caries index. However, treating such patients is not an easy task, because of the difficulty in communication. General anesthesia may be a useful option in adult patients with CdCS and intellectual disability. General anesthesia should be administered very carefully, owing to the presence of comorbid diseases, which may need airway management. Infants with CdCS need general anesthesia if they have a concomitant cardiac anomaly. Intubation is reportedly difficult for such patients was, owing to the structural and functional abnormalities in the larynx and vocal cords. The purpose of this study was to report a case of difficult intubation while inducing general anesthesia in a patient with CdCS during dental treatment, due to a narrow larynx and trachea.


Assuntos
Adulto , Manuseio das Vias Aéreas , Anestesia , Anestesia Geral , Braço , Cromossomos Humanos Par 5 , Anormalidades Congênitas , Síndrome do Miado do Gato , Humanos , Lactente , Deficiência Intelectual , Intubação , Laringe , Higiene Bucal , Pacientes Ambulatoriais , Traqueia , Prega Vocal
3.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wprim-782243

RESUMO

In this study, we report a case of anti-PP₁P(k) (Tj(a)) alloantibody with p phenotype detected and confirmed in a 20-year-old Korean woman diagnosed with anemia during long-term rehabilitation treatment due to mental retardation. She did not have any transfusion history, except two exchange transfusions received 6 days after she was born. Her blood type was B, RhD+, and findings from antibody screening and identification tests showed strong reactivity (3+ to 4+) in all panel cells except in her autologous cells. Based on these results, we concluded that she had an alloantibody to a high-prevalence antigen. Anti-PP₁P(k) alloantibody with p phenotype was identified by additional serological tests in a foreign reference laboratory. To confirm the patient's p phenotype, polymerase chain reaction and sequencing of the A4GALT gene were performed on her blood sample. She was homozygous for c.301delG in the A4GALT gene, which finally confirmed that she had the anti-PP₁P(k) antibody with p phenotype. Fortunately, her anemia caused due to iron deficiency could be treated with iron supplementation without the need for any transfusion. However, it remains extremely difficult to find compatible red blood cells in such settings in Korea. Moreover, there has been very little research on the prevalence of the p phenotype in the Korean population. Therefore, additional research is needed on rare blood group antibodies and high-prevalence antigens, including anti-PP₁P(k) cases.


Assuntos
Anemia , Anticorpos , Transfusão de Sangue , Eritrócitos , Feminino , Humanos , Deficiência Intelectual , Ferro , Isoanticorpos , Coreia (Geográfico) , Programas de Rastreamento , Sistema do Grupo Sanguíneo P , Fenótipo , Reação em Cadeia da Polimerase , Prevalência , Reabilitação , Testes Sorológicos , Adulto Jovem
4.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-782077

RESUMO

BACKGROUND AND PURPOSE: The US Food and Drug Administration approval for perampanel has only recently been expanded to patients as young as 4 years, and so there have been few real-life studies of the effects of perampanel in pediatric patients. The aim of this study was to determine the long-term efficacy, factors affecting treatment response, and tolerability of perampanel as an add-on therapy in pediatric patients aged 4 years or older with epilepsy.METHODS: This multicenter retrospective observational study collected data from pediatric epilepsy centers of four Korean national universities. Changes in the seizure frequency from baseline, adverse events, and retention rates were obtained at 3, 6, and 12 months. Adverse events and discontinuation profiles were obtained to assess tolerability.RESULTS: This study included 220 children and adolescents (117 males and 103 females) aged 4 to 20 years. The overall response rate was 43.6%, and the seizure-freedom rate was 17.7%. Factors affecting a good treatment response were the absence of intellectual disability, small number of concomitant antiepileptic drugs, and low baseline seizure frequency. Eighty-eight patients (40%) experienced adverse events, but they mostly were of mild severity and resolved after the dose reduction or discontinuation of perampanel. The retention rates at 3, 6, and 12 months were 85.0%, 71.8%, and 50.5%, respectively.CONCLUSIONS: Adjunctive treatment with perampanel was efficacious and tolerated in pediatric patients aged 4 years or older with epilepsy. Early perampanel treatment may help to reduce the burden of their seizures and improve their quality of life.


Assuntos
Adolescente , Anticonvulsivantes , Criança , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Epilepsia , Humanos , Deficiência Intelectual , Masculino , Estudo Observacional , Qualidade de Vida , Estudos Retrospectivos , Convulsões , Resultado do Tratamento , United States Food and Drug Administration
5.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781298

RESUMO

OBJECTIVE@#To explore the genetic basis of a patient featuring global developmental delay, intellectual disability, cleft palate, seizures and hypotonia.@*METHODS@#Clinical examination and laboratory tests were carried out. Peripheral blood samples were obtained from the patient and his parents. Whole genomic DNA was extracted and subjected to next generation sequencing. Candidate variation was analyzed by using bioinformatic software and validated by Sanger sequencing.@*RESULTS@#The proband was found to carry a heterozygous c.2117T>C (p.Leu706Pro) variant of the NEDD4L gene, which was a de novo variant validated by Sanger sequencing and predicted to be likely pathogenic according to the American College of Medical Genetics Guidelines.@*CONCLUSION@#The heterozygous variant of c.2117T>C (p.Leu706Pro) of the NEDD4L gene probably underlies the disorders in the patient.


Assuntos
Testes Genéticos , Heterozigoto , Humanos , Deficiência Intelectual , Genética , Masculino , Mutação , Ubiquitina-Proteína Ligases Nedd4 , Genética , Heterotopia Nodular Periventricular , Genética
6.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781294

RESUMO

OBJECTIVE@#To explore the genetic basis of a child with idiopathic mental retardation.@*METHODS@#Clinical data and peripheral blood sample of the child were collected. Genomic DNA was extracted and subjected to copy number analysis using single nucleotide polymrophism array comparative genome hybridization (SNP-aCGH) and targeted capture and next generation sequencing (NGS).@*RESULTS@#No microdeletion/microduplication were detected by SNP-aCGH. NGS has detected homozygous c.722delA (p.Asp241fs) variant of the LISN1 gene, which is known to underlie autosomal recessive mental retardation-27 (MRT 27). Both parents are carriers of the variant, conforming to the autosomal recessive inheritance.@*CONCLUSION@#A novel pathogenic variant of the LINS1 gene has been identified, which probably underlies the MRT 27 in the patient.


Assuntos
Criança , Hibridização Genômica Comparativa , Sequenciamento de Nucleotídeos em Larga Escala , Homozigoto , Humanos , Deficiência Intelectual , Genética , Proteínas , Genética
7.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781292

RESUMO

OBJECTIVE@#To explore the genetic basis of a child with developmental delay and intellectual disability.@*METHODS@#Peripheral blood samples of the child and his parents were collected for routine G-band karyotyping analysis and single nucleotide polymorphism array (SNP array) assay. Amniotic fluid sample was collected during the next pregnancy for prenatal diagnosis.@*RESULTS@#No karyotypic abnormality was found in the child and his parents. SNP array showed that the child has carried a 855.3 kb microduplication in 15q11.2. His mother carried the same duplication but had no phenotypic anomaly. No microdeletion/microduplication was found in his father. Upon prenatal diagnosis, no abnormalities was found with the chromosomal karyotype and SNP array result of the fetus.@*CONCLUSION@#15q11.2 microduplication may result in developmental delay and intellectual disability, for which CYFIP1 may be a candidate gene. However, the duplication may increase the risk but with a low penetrance. This should attract attention during clinical consultation.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal , Criança , Bandeamento Cromossômico , Duplicação Cromossômica , Cromossomos Humanos Par 15 , Genética , Deficiências do Desenvolvimento , Genética , Feminino , Humanos , Deficiência Intelectual , Genética , Cariotipagem , Masculino , Gravidez , Diagnóstico Pré-Natal
8.
Rev. chil. neuropsicol. (En línea) ; 14(2): 40-44, dic. 2019. ilus, tab
Artigo em Espanhol | LILACS (Américas) | ID: biblio-1102372

RESUMO

Introducción. La neuropsicología es el estudio de los procesos cognoscitivos comportamentales y sus alteraciones cuando se encuentra presente un daño o disfunción cerebral. En el caso de la neuropsicología infantil, esta busca evaluar e intervenir los procesos cognitivos relacionados con el aprendizaje que influyen en el desempeño académico, social, familiar y adaptativo. Objetivo. Caracterización clínica de niños y adolescentes que consultaron en la unidad de neuropsicología del Instituto Neurológico de Colombia entre los años 2013 - 2018. Métodos. Investigación observacional, descriptiva y transversal para una sola muestra de pacientes. Se extrajeron 17.623 registros de pacientes menores de 18 años que consultaron al servicio de neuropsicología del Instituto Neurológico de Colombia. Se analizaron las variables de edad, sexo y diagnóstico, mediante análisis univariados y bivariados. Se empleó la Clasificación internacional de Enfermedades (CIE-10). Resultados. Los principales diagnósticos de la población infantil fueron perturbación de la actividad y de la atención (31.9%), trastorno mixto de las habilidades escolares (2.6%) y retraso mental leve: deterioro del comportamiento significativo que requiere atención o tratamiento (2.6%). Conclusiones. Estos resultados muestran los principales tipos de trastornos neuropsicológicos de la población perteneciente al departamento de Antioquia que consulta para valoración e intervención cognitiva, lo que favorece la implementación mecanismos de prevención, diagnóstico y tratamiento para la población infantil con alteraciones en el neurodesarrollo y sus familias, mejorando su funcionamiento social y escolar.


Introduction. Neuropsychology is the study of behavioral cognitive processes and their alterations when brain damage or dysfunction is present. In the case of childhood neuropsychology, it seeks to evaluate cognitive processes related to learning that influence academic, social, family and adaptive performance. Objective. Clinical characterization of children and adolescents who consulted in the neuropsychology unit of a Colombian Neurological Institute, between 2013 - 2018. Methods. Observational, descriptive and cross-sectional research for a single sample of patients. 17,623 records were extracted from patients under 18 who consulted the neuropsychology service of a neurological institute in the city. The variables of age, sex and diagnosis were analyzed, using univariate and bivariate analyses. The International Classification of Diseases (ICD-10) was used. Results. The main diagnoses of the child population were activity and attention disturbance (31.9%), a mixed disorder of school skills (2.6%), mild mental retardation: the significant decline of the behavior that requires attention or treatment. Conclusions. These results show the most frequent neuropsychologic diagnosis of the Antioquia department residents that consult for cognitive attention and treatment, this benefits the implementation of prevention, diagnosis and treatment mechanism for the infant population with neurodevelopment disturbance and their families, improving their social and school functioning.


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno Autístico/diagnóstico , Transtorno Autístico/epidemiologia , Estudos Transversais , Colômbia , Distribuição por Idade e Sexo , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/epidemiologia , Neuropsicologia
9.
Rev. cuba. estomatol ; 56(4): e1814, oct.-dez. 2019. tab
Artigo em Espanhol | LILACS (Américas) | ID: biblio-1093249

RESUMO

RESUMEN Introducción: La salud bucal del paciente discapacitado intelectual ha sido una gran preocupación a nivel mundial. Cuba no se escapa de ello, por lo que ha implementado programas que priorizan a este tipo de individuos. Objetivo: Determinar la necesidad de tratamiento estomatológico de los pacientes con discapacidad intelectual según la categoría diagnóstica de la Escuela Especial Jardín de la Alegría. Métodos: Estudio descriptivo transversal realizado en el período comprendido entre 2016-2017. El universo de estudio estuvo constituido por 105 niños que representa la matrícula total de la escuela. El examen clínico de los escolares se realizó en el sillón dental. Para la recolección de la información se confeccionó una planilla encuesta teniendo en cuenta las características del grupo objeto de estudio: edad, sexo, categoría diagnóstica, índice COP-D y ceo-d, índice de necesidad de tratamiento periodontal comunitario, y la higiene bucal mediante el índice de higiene bucal simplificado de Greene y Vermillon. Resultados: La categoría diagnóstica que prevaleció fue el discapacitado intelectual leve con 82,8 por ciento. El 68,6 por ciento de la población estudiada presentó higiene bucal regular. El 67,6 por ciento de los niños presentó enfermedad periodontal, el 59,0 por ciento maloclusión y el 54,2 por ciento caries dental. Según necesidad de tratamiento, el 67,0 por ciento requiere tratamiento periodontal, el 59,0 por ciento tratamiento ortodóncico y el 45,7 por ciento tratamiento conservador. Conclusiones: Existió una alta necesidad de tratamiento periodontal en los individuos con discapacidad intelectual leve(AU)


ABSTRACT Introduction: The oral health of the intellectually disabled patient has been a great concern worldwide. Cuba does not escape this concern by implementing programs that prioritize this type of individuals. Objective: To determine the need for stomatological treatment of patients with intellectual disability according to the diagnostic category of the Jardín de la Alegría Special School. Methods: a cross-sectional descriptive study conducted in the period 2016-2017. The clinical examination of the students was carried out in the dental chair. For the collection of the information a survey form was made taking into account the characteristics of the group under study: age, sex, diagnostic category, COP-D index and ceo-d, index of need for community periodontal treatment, and oral hygiene using the simplified oral hygiene index of Greene and Vermillon. The universe of study was constituted by 105 children that represents the total enrollment of the school. Results: the diagnostic category that prevailed was the mild intellectual disability with 82.8. 68.6 percent of the studied population presented regular oral hygiene. 67.6 percent of the children presented periodontal disease, 59.0 percent malocclusion and 54.2 percent dental caries. According to need of treatment, 67 percent need periodontal treatment, 59.0 percent orthodontic treatment and 45.7 percent need conservative treatment. Conclusions: there was a high need for periodontal treatment in individuals with mild intellectual disability(AU)


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Higiene Bucal/normas , Saúde Bucal , Deficiência Intelectual/epidemiologia , Doenças da Boca/terapia , Índice Periodontal , Epidemiologia Descritiva , Estudos Transversais , Tratamento Conservador/efeitos adversos
10.
Rev. chil. nutr ; 46(4): 443-450, ago. 2019.
Artigo em Espanhol | LILACS (Américas) | ID: biblio-1013809

RESUMO

RESUMEN Las enfermedades mentales abarcan un grupo de patologías relacionadas con factores fisiológicos, genéticos, psicológicos, sociales y medioambientales. Dentro de estas enfermedades se encuentran la parálisis cerebral, la discapacidad mental, la enfermedad del espectro autista y el síndrome de Down, las cuales son abordadas en la presente revisión. El abordaje integral del paciente por parte del equipo de salud es imprescindible. Se destaca el rol del nutricionista dietista, ya que su atención oportuna y regular permite evitar el deterioro del estado nutricional, el compromiso de la talla en caso de niños, o adquirir comorbilidades prevenibles en adultos, como sucede cuando está presente una de las complicaciones comunes como el reflujo gastroesofágico y la disfagia, permitiendo mejorar la calidad de vida de pacientes, cuidadores y familia. A pesar de esto, los sistemas de salud sólo autorizan la atención nutricional cada dos o tres meses; adicional a esto, se suman el tiempo prolongado que tardan los trámites para la consulta y las autorizaciones, pudiendo desencadenarse complicaciones que ponen en riesgo la vida del paciente. Se realizó una revisión bibliográfica en bases de datos Scielo, Dialnet, PubMed, para soportar la importancia del papel del nutricionista dietista en todos los estados de las patologías relacionadas con las enfermedades mentales.


ABSTRACT Mental illnesses encompass a group of pathologies concerning physical, genetic, psychological, social and environmental factors. These diseases include cerebral palsy, mental handicap, autism spectrum disorder and Down syndrome, which will be addressed in the present review. A comprehensive approach is essential, which includes the role of the nutritionist-dietitian, since prompt and regular attention allows avoiding the deterioration of nutritional status, compromised length, in the case of children, or acquiring preventable comorbidities in adults, such as gastroesophageal reflux and dysphagia. This approach improves the quality of life of patients, caregivers and families. In spite of this, health systems only authorize nutritional care every two or three months. In addition, there is often prolonged wait times to access treatment and obtain authorization, which may put the patient's life at risk. A systematic review was carried out using Scielo, Dialnet, and Pubmed to support the importance of the role of the nutritionist-dietitian in mental illness conditions.


Assuntos
Humanos , Transtorno Autístico , Avaliação Nutricional , Paralisia Cerebral , Síndrome de Down , Terapia Nutricional , Deficiência Intelectual , Pacientes
11.
Revista Digital de Postgrado ; 8(2): e166, ago. 2019. tab, ilus
Artigo em Espanhol | LILACS (Américas), LIVECS | ID: biblio-1008556

RESUMO

El derecho universal a un empleo y las demandas de inserción socio laboral de las personas con discapacidad son una característica dinamizadora de las políticas sociales y de empleo. Objetivos: 1- conocer los niveles de incidencia que las dimensiones (factores personales, familia, entorno laboral, riesgos laborales) ejercen sobre la inserción laboral. 2.- Diseñar ergonómicamente una estación de trabajo para personas con discapacidad mediante la identificación de las dimensiones del entorno que facilitan su integración. Métodos: La muestra fue de por 73 personas con discapacidad física insertadas laboralmente en el sector público de la ciudad de Riobamba conformado por hombres y mujeres, siendo la técnica utilizada una encuesta aplicada a las personas condiscapacidad realizada entre los años 2013 y 2015, la encuesta constó de 22 ítems que corresponden a la variable independiente y 19 ítems de la variable dependiente tipo Likert. Resultados: La discapacidad severa es la que menos inserción laboral presenta 25,7%, la mayoría presenta un nivel medio de escolaridad 51,7% y, preparación y condiciones para el trabajo 71,4%. En cuanto a la valoración del puesto de trabajo diseñado el 57% presentó un alto nivel de satisfacción. Conclusión: factores personales, familia, entorno laboral y riesgos laborales inciden en la realidad de las personas con discapacidad física insertados laboralmente en el sector público de la Ciudad de Riobamba. Su entorno, la prevención de Riesgos Laborales y las dificultades para conseguir el pleno empleo coadyuvan a los problemas de la inserción laboral de personas con discapacidad en el área geográfica de estudio(AU)


The universal right to a job and the demands of the socio-labor insertion of people with disabilities are a stimulating characteristic of social and employment policies. Aims: The research was two aims: 1- to know the levels of incidence that the dimensions (personal factors, family, work environment, occupational risks) exert on the labor insertion. 2.- The ergonomic design of a workstation for people with disabilities by identifying the dimensions of the environment that facilitate their integration to people with physical disabilities. Methods: The sample was 73 people with physical disabilities inserted labor in the public sector of the city of Riobamba conformed by men and women, being the technique used a survey applied to the people with disability realized between the years 2013 and 2016, The survey consisted of 22 items corresponding to the independent variable and 19 items of the Likert-type dependent variable. Results: The severe disability is the one with the least labor insertion 25,7%, the majority has an average level of schooling 51.7% and, preparation and conditions for work 71.4%. Regarding the assessment of the designed job position, 57% presented a high level of satisfaction. Conclusion: personal factors, family, work environment and occupational risks affect the reality of people with physical disabilities inserted into the public sector of the City of Riobamba. Its environment, the prevention of occupational risks and the difficulties to achieve full employment contribute to the problems of the labor insertion of people with disabilities in the geographical area of study(AU)


Assuntos
Humanos , Masculino , Feminino , Saúde do Trabalhador , Pessoas com Deficiência/educação , Educação de Pessoa com Deficiência Intelectual , Deficiência Intelectual , Riscos Ocupacionais , Ergonomia
12.
Arch. argent. pediatr ; 117(3): 257-262, jun. 2019. tab
Artigo em Espanhol | LILACS (Américas), BINACIS | ID: biblio-1001198

RESUMO

El síndrome de fragilidad del cromosoma X es la causa de discapacidad intelectual heredable más frecuente. Asociado a trastornos del espectro autista en un tercio de los pacientes, afecta, con mayor prevalencia, a los varones. Se debe a una expansión de trinucleótidos CGG (citosina, guanina, guanina), llamada mutación completa en el locus Xq27.3 del gen FMR1, que conduce a la hipermetilación en el promotor del gen y reduce los niveles de expresión de FMRP, una proteína implicada en la maduración y plasticidad sináptica. Una expansión menor de CGG es la causa de insuficiencia ovárica primaria y del síndrome de temblor/ataxia asociado a X frágil, caracterizado por ataxia cerebelosa progresiva, de inicio tardío, y temblor de intención. En el presente estudio de serie de casos, se analiza la segregación de mutaciones del gen FMR1 en diferentes familias y la variabilidad de expresión clínica que llevó a la consulta genética.


The fragile X syndrome occurs due to an expansion of CGG trinucleotides, called full mutation, which is found at the Xq27.3 locus of the FMR1 gene. It is the most common cause of inherited intellectual disability. Associated with autistic spectrum disorders in one third of the patients, it affects males with higher prevalence. It also leads to hypermethylation of the gene promoter, silencing it and reducing the expression levels of FMRP, a protein involved in synaptic maturation and plasticity. A lower expansion causes primary ovarian failure syndrome as well as tremor and ataxia syndrome characterized by progressive cerebellar ataxia of late onset and intention tremor. In the present case-control study we analyze the segregation of mutations of the FMR1 gene in different families and the variability of expression that led to the genetic consultation.


Assuntos
Humanos , Pré-Escolar , Criança , Adolescente , Adulto , Ataxia , Insuficiência Ovariana Primária , Síndrome do Cromossomo X Frágil , Deficiência Intelectual
13.
Arch. argent. pediatr ; 117(3): 183-187, jun. 2019. graf, tab
Artigo em Inglês, Espanhol | LILACS (Américas), BINACIS | ID: biblio-1001194

RESUMO

La discapacidad es un problema de salud pública que afecta las oportunidades de desarrollo integral del individuo. El objetivo del trabajo fue estimar la prevalencia e incidencia anual y de las categorías diagnósticas asociadas a discapacidad total y por grupos etarios a partir de la tramitación del Certificado Único de Discapacidad. Estudio analítico de una cohorte de niños/as de 0 a 18 años perteneciente a un hospital universitario del Área Metropolitana de Buenos Aires, entre enero de 2010 y diciembre de 2017. Sobre un total de 22 750 afiliados activos, 726 pacientes tramitaron el Certificado Único de Discapacidad; la prevalencia fue del 3,2 % (IC 95 %: 2,9-3,4). La incidencia acumulada anual aumentó desde 2012 (0,22 %; IC 95 %: 0,1-0,19) hasta 2017 (0,59 %; IC 95 %: 0,5-0,7). Las discapacidades mentales constituyeron el 80 % (n = 576). En este estudio se observó un aumento de la incidencia de discapacidad y de la categoría de discapacidad mental.


Disability is a public health problem that affects an individual's comprehensive development opportunities. The objective of this study was to estimate the annual incidence and prevalence and the diagnostic categories associated with total disability and age groups based on the application for a Unique Certificate of Disability. This was an analytical cohort study in children aged 0-18 years conducted at a teaching hospital of the Metropolitan Area of Buenos Aires between January 2010 and December 2017. Among 22 750 active members, 726 patients applied for a Unique Certificate of Disability; the prevalence was 3.2 % (95 % confidence interval [CI]: 2.9-3.4). The annual cumulative incidence increased from 2012 (0.22 %, 95 % CI: 0.1-0.19) to 2017 (0.59 %, 95 % CI: 0.5-0.7). Mental disabilities accounted for 80 % (n = 576). This study showed an increase in the incidence of disability and also the mental disability category.


Assuntos
Humanos , Lactente , Pré-Escolar , Criança , Adolescente , Pediatria , Epidemiologia , Pessoas com Deficiência , Transtorno do Espectro Autista , Deficiência Intelectual
14.
Prensa méd. argent ; 105(4): 165-173, jun 2019. fig
Artigo em Inglês | LILACS (Américas), BINACIS | ID: biblio-1026686

RESUMO

Problem and aim. Deviant behavior is not only an alarming phenomenon but also a multitude of social, pedagogic and psychological problems that threaten the society and that became particularly relevant for the young adolescents with intellectual disability. Therefore, the aim of the present article is to reveal the specifics of correctional and developmental work with such children that would provide appropriate interpersonal interaction in the adolescence and the further positive socialization. Methods. The presented study was conducted in three stages (exploratory-preparatory, experimental and control-generalizing stages) with the use of the Buss-Durkee Hostility Inventory. Results and discussion. The results showed that the predominant from of the deviant behavior was hostility and violence, as well as a tendency for addictive behavior. Diagnostics of the dominant indices of hostility and aggressiveness demonstrated that the aggressiveness index dominated in the majority of adolescents. The majority of adolescents had a very high or high level of indirect hostility and assault, along with suspicion. The correctional program provides correctional effect for the adolescents with low and medium level of proneness to the deviant behavior


Assuntos
Humanos , Adolescente , Ensino de Recuperação/tendências , Adaptação Psicológica , Agressão/psicologia , Hostilidade , Relações Interpessoais , Deficiência Intelectual/psicologia , Deficiência Intelectual/terapia , Avaliação de Resultado de Intervenções Terapêuticas/métodos
15.
Cad. Ibero Am. Direito Sanit. (Impr.) ; 8(1): 65-79, jan.-mar. 2019.
Artigo em Português | LILACS (Américas) | ID: biblio-996361

RESUMO

Objetivo: analisar o papel do Estado na proteção de vulneráveis, especialmente de adultos com deficiência intelectual. Metodologia: estudo teórico alicerçado nos referenciais de vulnerabilidade desenvolvidos por Fineman, Pelluchon e Herring, contrastada com a concepção de bioética normativa. Resultados: constata-se que adultos com deficiência intelectual se encontram em situação de vulnerabilidade acrescida, o que, por si só, não justifica a intervenção impositiva em sua manifestação de vontade, sob o argumento de proteção. Conclusão: a atuação do Estado deve ser cautelosa quanto às aplicações práticas das concepções de vulnerabilidade e proteção, na medida em que esta última pode limitar o exercício da autonomia de pessoas com deficiência intelectual, ensejando dano travestido de proteção. (AU)


Objetivo: analizar el papel del Estado en la protección de vulnerables, especialmente de adultos con discapacidad intelectual. Metodología: estudio teórico basado en los referentes de vulnerabilidad desarrollados por Fineman, Pelluchon y Herring, contrastada con la concepción de bioética normativa. Resultados: se constata que los adultos con discapacidad intelectual se encuentran en una situación de vulnerabilidad creciente, lo que, por sí solo, no justifica la intervención impositiva en su manifestación de voluntad, bajo el argumento de protección. Conclusión: la actuación del Estado debe ser cautelosa en cuanto a las aplicaciones prácticas de las concepciones de vulnerabilidad y protección, en la medida en que esta última puede limitar el ejercicio de la autonomía de personas con discapacidad intelectual, dando daño fértil de protección. (AU)


Objective: to analyze the role of the State in protecting the vulnerable, especially adults with intellectual disabilities. Methodology: a theoretical study based on the vulnerability references developed by Fineman, Pelluchon and Herring, contrasted with the conception of normative bioethics. Results: we find that adults with intellectual disabilities are in a situation of increased vulnerability, which, in itself, does not justify tax intervention in their manifestation of will, under the protection argument. Conclusion: the State must be cautious about the practical applications of conceptions of vulnerability and protection, insofar as the latter can limit the exercise of the autonomy of people with intellectual disabilities, thus providing protection transvestite damage. (AU)


Assuntos
Humanos , Adulto , Deficiência Intelectual , Populações Vulneráveis
16.
Braz. J. Psychiatry (São Paulo, 1999, Impr.) ; 41(3): 225-233, May-June 2019. tab, graf
Artigo em Inglês | LILACS (Américas) | ID: biblio-1011501

RESUMO

Objective: Alzheimer's disease occurs at a higher prevalence and an earlier age in individuals with Down syndrome (DS) than typically developing individuals. However, diagnosing dementia in individuals with intellectual disability remains a challenge due to pre-existing cognitive deficits. The aim of this study was to investigate the validity and reliability of the Brazilian version of the Cambridge Examination for Mental Disorders of Older People with Down's syndrome and Others with Intellectual Disabilities (CAMDEX-DS) for individuals with DS. Methods: Two psychiatrists, working independently, evaluated 92 adults with DS ≥ 30 years of age. The concurrent validity of the CAMDEX-DS was analyzed in relation to the gold standard of established international criteria. In a subgroup of 20 subjects, the concurrent validity of the CAMDEX-DS was analyzed in relation to an independent objective assessment of cognitive decline over three years. We analyzed the inter-rater reliability of cognitive assessment. Results: The diagnostic accuracy of the CAMDEX-DS compared to the gold standard was 96.7%. CAMDEX-DS-based diagnosis was considered consistent with cognitive decline. The probability of a participant with dementia having cognitive decline was 83%. Inter-rater reliability for the participant assessment was good, with a kappa of > 0.8 for 93% of the CAMDEX-DS items. Conclusion: The CAMDEX-DS can be considered the first valid and reliable instrument for evaluating dementia in adults with DS in Brazil. Its use in such individuals could improve clinical practice and research.


Assuntos
Humanos , Adulto , Síndrome de Down/diagnóstico , Demência/diagnóstico , Disfunção Cognitiva/diagnóstico , Testes Neuropsicológicos , Tradução , Brasil/epidemiologia , Métodos Epidemiológicos , Síndrome de Down/complicações , Síndrome de Down/epidemiologia , Demência/complicações , Demência/epidemiologia , Deficiência Intelectual , Pessoa de Meia-Idade
17.
Pensar prát. (Impr.) ; 22: 1-13, jan.-dez.2019. Tab
Artigo em Português | LILACS (Américas) | ID: biblio-996815

RESUMO

Esse estudo objetivou verificar contribuições das atividades de dança e expressão corporal ao processo de ensino-aprendizagem de alunos com deficiência intelectual e transtornos de a-prendizagem. Para isso, foram realizadas entrevistas semiestruturadas com as mães e a profes-sora de dança de duas crianças de sexo masculino, com onze anos, uma com deficiência inte-lectual e outra com transtornos de aprendizagem, que participaram regularmente de atividades de dança e expressão corporal, antes e após seis meses de prática. Como resultado, foi identi-ficado que as atividades possibilitaram desenvolvimento do processo de ensino-aprendizado das crianças e a exploração de potenciais comumente não identificados em outros contextos de ensino.


This study analyzes contributions of dance and body expression activities to the learning pro-cess of students with intellectual disabilities and learning disorders. For that, semi-structured interviews were conducted with the mothers and the dance teacher of two male children, aged eleven years, one with intellectual disability and another with learning disorders, who regular-ly participated in dance and body expression activities, before and after six months of prac-tice. It was identified development of the children's learning and the exploration of potentials not commonly identified in other contexts of teaching.


Este estudio objetivó verificar contribuciones de las actividades de danza y expresión corporal al proceso de enseñanza aprendizaje de alumnos con discapacidad intelectual y trastornos del aprendizaje. Para ello, se realizaron entrevistas semiestructuradas con las madres y la profeso-ra de danza de dos niños de sexo masculino, con once años, una con discapacidad intelectual y otra con trastornos del aprendizaje, que participaron regularmente de actividades de danza yexpresión corporal, antes y antes, Después de seis meses de práctica. Como resultados, se identificó que las actividades posibilitar el desarrollo del proceso de enseñanza aprendizaje de los niños y la explotación de potenciales comúnmente no identificados en otros contextos de enseñanza.


Assuntos
Humanos , Masculino , Dança , Transtorno de Aprendizagem Específico , Deficiência Intelectual , Movimento
18.
Int. arch. otorhinolaryngol. (Impr.) ; 23(1): 25-30, Jan.-Mar. 2019. tab, graf
Artigo em Inglês | LILACS (Américas) | ID: biblio-1002179

RESUMO

Abstract Introduction Feeding, swallowing and breathing are fundamental activities for the survival and well-being of humans; these functions are performed by themost complex neuromuscular unit of the human body, which, when altered, may raise morbidity and mortality rates. Objective To evaluate deglutition in patients with mental disability in order to determine the incidence and the severity of dysphagia. Methods A total of 189 institutionalized adult patients with mental disability were analyzed using a 3.2 mm flexible fiberscope (Machida, Japan 1995). The following food consistencies were tested: pasty, thickened liquid and liquid. Results Among the total of 189 patients, 101 (53.4%) were female aged between 14 and 55 years old. Most of them 120 (63.5%) had profound mental deficiency, 58 (30.7%) had severe mental deficiency, 9 (4.8%) had moderate mental deficiency, and 2 (1.1%) had mild mental deficiency. Gender and the degree of mental deficiency did not influence significantly the degree of dysphagia. Age, degree of disability and interaction between age groups and degrees of disability influenced significantly the degree of dysphagia. Younger patients are more likely to present more severe dysphagia. Stabilization occurs between 31 and 40 years of age, and above this age, a greater chance of less severe dysphagia, because the increase in the degree of mental deficiency decreases the probability of more severe dysphagia. Conclusion The population that mostly presented severe dysphagia was characterized by being mostly female, with profound mental deficiency, with an average age of 36.7 years. There was no relationship between gender and the degree of mental disability concerning the degree of dysphagia. (AU)


Assuntos
Adolescente , Adulto , Pessoa de Meia-Idade , Transtornos de Deglutição/complicações , Transtornos de Deglutição/diagnóstico por imagem , Endoscopia/métodos , Deficiência Intelectual/complicações , Transtornos de Deglutição/epidemiologia , Modelos Logísticos , Incidência , Estudos Transversais , Endoscópios , Gravidade do Paciente
19.
Experimental Neurobiology ; : 485-494, 2019.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-763779

RESUMO

Vacuolar protein sorting-associated protein 13B (VPS13B), also known as COH1, is one of the VPS13 family members which is involved in transmembrane transport, Golgi integrity, and neuritogenesis. Mutations in the VPS13B gene are associated with Cohen syndrome and other cognitive disorders such as intellectual disabilities and autism spectrum disorder (ASD). However, the patho-physiology of VPS13B-associated cognitive deficits is unclear, in part, due to the lack of animal models. Here, we generated a Vps13b exon 2 deletion mutant mouse and analyzed the behavioral phenotypes. We found that Vps13b mutant mice showed reduced activity in open field test and significantly shorter latency to fall in the rotarod test, suggesting that the mutants have motor deficits. In addition, we found that Vps13b mutant mice showed deficits in spatial learning in the hidden platform version of the Morris water maze. The Vps13b mutant mice were normal in other behaviors such as anxiety-like behaviors, working memory and social behaviors. Our results suggest that Vps13b mutant mice may recapitulate key clinical symptoms in Cohen syndrome such as intellectual disability and hypotonia. Vps13b mutant mice may serve as a useful model to investigate the pathophysiology of VPS13B-associated disorders.


Assuntos
Animais , Transtorno do Espectro Autista , Transtornos Cognitivos , Éxons , Humanos , Deficiência Intelectual , Memória de Curto Prazo , Camundongos , Modelos Animais , Hipotonia Muscular , Fenótipo , Teste de Desempenho do Rota-Rod , Comportamento Social , Aprendizagem Espacial , Água
20.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-763601

RESUMO

BACKGROUND: Kabuki syndrome is a rare genetic disorder characterized by distinct dysmorphic facial features, growth deficiency, intellectual disabilities, unusual dermatoglyphic patterns, and skeletal abnormalities. The incidence of hip dislocation in Kabuki syndrome ranges from 18% to 62%. We reviewed the outcomes of management of hip dislocations in patients with Kabuki syndrome with special attention to the diagnostic processes for hip dislocation and Kabuki syndrome. METHODS: Among 30 patients with mutation-confirmed Kabuki syndrome, we selected six patients who had hip dislocations and reviewed their medical records and plain radiographs. The modes of presentation and diagnostic processes for both hip dislocations and Kabuki syndrome were investigated. The management and treatment outcomes of hip dislocations in patients with Kabuki syndrome were evaluated. RESULTS: The average age of patients at the time of diagnosis of hip dislocation was 7.7 months (range, 1 week to 22 months). None of the patients were diagnosed as having Kabuki syndrome at that time. Two patients were treated with a Pavlik harness; one, with closed reduction; two, with open reduction and later pelvic and/or femoral osteotomies; and one, with open reduction combined with pelvic osteotomy. The patients were followed up for 5.8 years on average (range, 2.0 to 10.5 years). The radiologic outcome was graded as Severin IA or IB for three patients who were older than 6 years at the latest follow-up (mean age, 9.9 years; range, 7.8 to 12.4 years). In the remaining three patients younger than 6 years (mean age, 3.8 years; range, 2.7 to 5.3 years), the lateral center edge angle was more than 15°. The clinical diagnosis of Kabuki syndrome was made during follow-up after hip dislocation treatment and confirmed by mutational analysis at a mean age of 4.7 years. The mean interval between the diagnosis of hip dislocation and Kabuki syndrome was 4.0 years. CONCLUSIONS: The management of hip dislocation by conservative or surgical method showed successful results. Awareness of Kabuki syndrome could lead to an early diagnosis of this rare disease in patients with hip dislocation and allow for early detection of other underlying conditions and multidisciplinary management.


Assuntos
Dermatoglifia , Diagnóstico , Diagnóstico Precoce , Seguimentos , Luxação do Quadril , Quadril , Humanos , Incidência , Deficiência Intelectual , Registros Médicos , Métodos , Osteotomia , Doenças Raras
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