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2.
Rev. méd. hondur ; 88(1): 43-46, ene.- jun. 2020. tab, ilus
Artigo em Espanhol | LILACS | ID: biblio-1128556

RESUMO

Antecedentes: El Síndrome de Edwards o trisomía 18, es una anomalía cromosómica o aneuploidía caracterizada por la presencia de una copia adicional del cromosoma 18. Se asocia con una alta tasa de mortalidad, siendo muy escasas las probabilidades de supervivencia más allá de las semanas o del año de edad. Sin embargo, existen casos que llegan a sobrevivir más tiempo, pero con retraso mental severo, problemas de salud y de desarrollo, y por ende una calidad de vida muy baja. En este artículo se informa un caso de trisomía 18 de larga sobrevida con el propósito de aportar información sobre la etiología, el fenotipo, la sobrevida y el consejo genético. Descripción de Caso: Paciente de sexo femenino nacida en 2010 con un cariotipo realizado en 20 células que mostraron 47,XX+18 en todas las metafases. Con talla y peso bajos para su edad, facies dismórficas, retardo severo del desarrollo psicomotor y cognitivo, imposibilidad para alimentarse, ausencia de lenguaje verbal y sordera neurosensorial. Conclusión: El conocimiento de las manifestaciones clínicas y el pronóstico del paciente con trisomía 18 es de gran importancia para el cuidado neonatal y la toma de decisiones para realizar procedimientos invasivos, como cirugía de corazón o resucitación cardiopulmonar. El diagnóstico temprano es importante para la toma de decisiones médicas...(AU)


Assuntos
Humanos , Feminino , Criança , Aberrações Cromossômicas , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Aconselhamento Genético , Deficiência Intelectual
3.
Rev. bras. ortop ; 55(2): 170-180, Mar.-Apr. 2020. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1138003

RESUMO

Abstract Objective To perform the translation and cross-cultural adaptation to Brazilian Portuguese of the Non-Communicating Children's Pain Checklist - Postoperative Version (NCCPC-PV) instrument, which assesses acute pain in individuals with severe intellectual disability (ID) who present great cognitive impairment and inability to communicate (CIIC). Method In the adaptation process, the original NCCPC-PV was translated, back-translated, its versions were discussed by a committee of experts, and the resulting tool was tested in 20 health professionals and 20 caregivers of CCIC patients regarding its semantic clarity. Results Data from the present study and its participants were analyzed and their results were described. Thus, "Lista de Verificação de Dor em Crianças Não Comunicantes - Versão Pós-operatória" (Br-NCCPC-PV) was obtained as the final version in Brazilian Portuguese. Conclusion After the present study, the Br-NCCPC-PV was considered adequate for use in the Brazilian population.


Resumo Objetivo Realizar a tradução e a adaptação transcultural para o português falado no Brasil do instrumento "Non-Communicating Children's Pain Checklist - Postoperative Version" (NCCPC-PV), destinado a avaliar a dor aguda em indivíduos com deficiência intelectual (DI) grave que apresentam grande comprometimento cognitivo e incapacidade de comunicação (CCIC). Método No processo de adaptação utilizado, o NCCPC-PV original foi traduzido, retraduzido, suas versões foram discutidas por um comitê de especialistas, e a ferramenta resultante foi testada em 20 profissionais de saúde e 20 cuidadores de pacientes com CCIC quanto à sua clareza semântica. Resultados Os dados deste estudo e de seus participantes foram analisados, e seus resultados foram descritos. Dessa maneira, obteve-se a Lista de Verificação de Dor em Crianças Não Comunicantes - Versão Pós-operatória (Br-NCCPC-PV) como a versão final para o português falado no Brasil. Conclusão Após este estudo, a Br-NCCPC-PV foi considerada adequada para o uso na população brasileira.


Assuntos
Dor , Tradução , Medição da Dor , Cuidadores , Pessoal de Saúde , Lista de Checagem , Dor Aguda , Deficiência Intelectual
4.
Rev. inf. cient ; 99(1): 30-37, ene.-feb. 2020. tab, graf
Artigo em Espanhol | LILACS | 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
5.
Artigo em Chinês | WPRIM | ID: wpr-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 | ID: wpr-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 | ID: wpr-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.
Artigo em Inglês | WPRIM | ID: wpr-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
11.
Artigo em Chinês | WPRIM | ID: wpr-826540

RESUMO

OBJECTIVE@#To delineate the nature and origin of chromosomal aberration in a boy with mental retardation and multiple congenital deformities.@*METHODS@#Chromosomal karyotypes of the proband and his parents were determined by routine G-banding analysis. Genomic DNA was also analyzed with single nucleotide polymorphism array (SNP array).@*RESULTS@#The karyotype of the proband was 46,X,add(Y)(q11.23). No karyotypic abnormality was detected in either parent. SNP array has identified a de novo 21.6 Mb duplication at 22q12qter in the proband.@*CONCLUSION@#The de novo 22q12qter duplication probably underlies the abnormalities in the proband.


Assuntos
Anormalidades Múltiplas , Genética , Adulto , Criança , Bandeamento Cromossômico , Cromossomos Humanos Par 22 , Genética , Feminino , Testes Genéticos , Humanos , Deficiência Intelectual , Genética , Cariotipagem , Masculino , Trissomia
12.
Artigo em Chinês | WPRIM | ID: wpr-826538

RESUMO

OBJECTIVE@#To explore the genetic basis of a proband with distinctive facial features, global developmental delay, seizures and hypoplasia of corpus callosum through next generation sequencing (NGS).@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Whole exome and flanking sequences were screened by NGS. Suspected variants were verified by Sanger sequencing.@*RESULTS@#The proband was found to carry a heterozygous c.2824G>T (p.G942X) variant of the ZEB2 gene, which was verified by Sanger sequencing to be a de novo variant.@*CONCLUSION@#The heterozygous c.2824G>T (p.G942X) variant of the ZEB2 gene probably underlies the Mowat-Wilson syndrome in the proband.


Assuntos
Facies , Variação Genética , Heterozigoto , Doença de Hirschsprung , Genética , Humanos , Deficiência Intelectual , Genética , Microcefalia , Genética , Sequenciamento Completo do Exoma , Homeobox 2 de Ligação a E-box com Dedos de Zinco , Genética
13.
Psicol. esc. educ ; 24: e193928, 2020. graf
Artigo em Português | LILACS, INDEXPSI | ID: biblio-1135873

RESUMO

A presente pesquisa teve por objetivo analisar as representações sociais sobre inclusão de jovens com deficiência intelectual (DI) no segmento de ensino médio (EM), na perspectiva de Jovens Nativos na Pedagogia de Orientação Inclusiva (JNPOI), matriculados numa escola pública de ensino médio de Planaltina, Brasília-DF. Trata-se de uma pesquisa qualitativa, descritivo-interpretativa. Os dados foram obtidos a partir da aplicação do questionário de Livre Associação de Palavras a 186 jovens, dentre os quais, sete tinham DI. Realizamos a análise prototípica desses dados com ajuda do software Iramuteq. Os resultados sugerem que subjacente a uma representação social plenamente favorável à inclusão de pessoas com DI, no segmento de EM, está a busca por afirmar uma identidade compatível com normas, princípios constitucionais e procedimentos jurídicos que condenam firmemente a expressão do preconceito e das atitudes discriminatórias.


En la presente investigación se tuvo por objetivo analizar las representaciones sociales sobre inclusión de jóvenes con deficiencia intelectual (DI) en el segmento de enseñanza secundaria (EM), en la perspectiva de Jóvenes Nativos en la Pedagogía de Orientación Inclusiva (JNPOI), ingresados en una escuela pública de enseñanza secundaria de Planaltina, Brasília-DF. Se trata de una investigación cualitativa, descriptivo-interpretativa. Se obtuvo los datos a partir de la aplicación del cuestionario de Libre Asociación de Palabras a 186 jóvenes, entre los cuales, siete tenían DI. Realizamos el análisis prototípico de esos datos con ayuda del software Iramuteq. Los resultados sugieren que subyacente a una representación social plenamente favorable a la inclusión de personas con DI, en el segmento de EM, está la búsqueda por afirmar una identidad compatible con normas, principios constitucionales y procedimientos jurídicos que condenan firmemente la expresión del preconcepto y de las actitudes discriminatorias.


This research aimed to analyze social representations on the inclusion of young people with intellectual disabilities (ID) in the high school (HS) segment, from the perspective of Young Natives in Inclusion-Oriented Pedagogy (YNIOP) attending a public high school in Planaltina, Brasília-DF. It is a qualitative, descriptive-interpretative research. Data were obtained from the application of the Free Word Association Questionnaire to 186 young students, among which seven had ID. We prototyped this data with the help of the Iramuteq software. The results suggest that, underlying a social representation that is fully favorable to the inclusion of people with ID in the HS segment, there is the search for the affirmation of an identity compatible with norms, constitutional principles and legal procedures that strongly condemn expressions of prejudice and discriminatory attitudes.


Assuntos
Inclusão Escolar , Ensino Fundamental e Médio , Deficiência Intelectual
14.
Artigo em Chinês | WPRIM | ID: wpr-826557

RESUMO

OBJECTIVE@#To explore the clinical and genetic features of a patient with mental retardation.@*METHODS@#G-Banding chromosomal karyotyping and high-throughput sequencing was carried out for the child. Suspected variant was validated in his family by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The patient was found to carry a de novo heterozygous c.4090G>T (p.Gly1364X) variant of the ASXL3 gene, which was known to predispose to Bainbridge-Ropers syndrome.@*CONCLUSION@#The nonsense c.4090G>T (p.Gly1364X) variant probably accounts for the disease in this patient.


Assuntos
Criança , Códon sem Sentido , Deficiências do Desenvolvimento , Genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Deficiência Intelectual , Genética , Fenótipo , Síndrome , Fatores de Transcrição , Genética
15.
Artigo em Chinês | WPRIM | ID: wpr-826555

RESUMO

OBJECTIVE@#To explore the genetic basis for a child featuring delayed intellectual development.@*METHODS@#The child and his parents were subjected to conventional G-banding karyotyping and single nucleotide polymorphism array (SNP-array) analysis. Suspected copy number variations (CNVs) were verified in both parents.@*RESULTS@#No karyotypic abnormality was found with the child and his parents. SNP-array results for both parents were normal. The child was found to harbor a de novo 172 kb deletion at 18q21.2 with a physical position of 52 957 042-53 129 237. The deletion only involved one OMIM gene, namely TCF4, resulting in removal of its exons 6 to 8.@*CONCLUSION@#The SNP-array assay has facilitated with the diagnosis of this child. Deletion of 18q21.2 region probably accounts for the Pitt-Hopkins syndrome (PTHS) in this patient.


Assuntos
Criança , Deleção Cromossômica , Cromossomos Humanos Par 18 , Genética , Variações do Número de Cópias de DNA , Deficiências do Desenvolvimento , Genética , Facies , Humanos , Hiperventilação , Genética , Deficiência Intelectual , Genética , Fenótipo , Fator de Transcrição 4 , Genética
16.
Rev. cuba. estomatol ; 56(4): e1814, oct.-dez. 2019. tab
Artigo em Espanhol | LILACS | 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
17.
Rev. chil. neuropsicol. (En línea) ; 14(2): 40-44, dic. 2019. ilus, tab
Artigo em Espanhol | LILACS | 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
18.
Rev. medica electron ; 41(5): 1178-1191, sept.-oct. 2019. tab
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1094121

RESUMO

RESUMEN Introducción: la discapacidad mental, íntimamente relacionada con el incremento de la expectativa de vida, se considera uno de los problemas más graves que hay que enfrentar en la centuria recién iniciada. Esto trae consigo el aumento de la prescripción de agentes anti psicóticos, como la tioridazina, lo que tiende a convertirse en un problema de salud al causar arritmias y en ocasiones fatales. Aún no se conoce en qué grado estas alteraciones son responsables de algunas muertes súbitas ocurridas en personas que tomaban estos medicamentos. Objetivo: identificar cuáles son las alteraciones clínicas y electrocardiográficas en los pacientes que usan la tioridazina, como droga de elección en los trastornos psiquiátricos. Materiales y métodos: se realizó un estudio descriptivo, a los ancianos atendidos en el Servicio de Geriatría que ingieran tioridazina, en cualquier dosis. Durante al período de marzo del año 2017 hasta marzo del 2018. Resultados: predominaron los ancianos del sexo femenino y comprendido en las edades 60 y 74 años, con nivel de escolaridad secundario, lo que se correlacionó con la doble función de la mujer en la sociedad actual, y el elevado nivel de escolaridad de la ciudadanía cubana. Predominaron antecedentes de hipertensión arterial y diabetes, al igual las palpitaciones en relación a un aumento de los bloqueos del has de his, observados en los electrocardiogramas. No se presentaron fallecidos. Conclusiones: deben utilizarse dosis bajas del medicamento, por corto tiempo y bajo supervisión electrocardiográfica (AU).


ABSTRACT Introduction: mental incapacity, tightly related to the life expectancy increase, is considered one of the most serious problems to afford in the current century. It brings about the increase of the prescription of anti-psychotic agents, like thioridazine, tending to become a health problem because of causing arrhythmias that are occasionally life-threatening. It is still unknown in what level these alterations are responsible for several sudden deaths in persons who took these drugs. Objective: to identify which are the clinical and electrocardiographic alterations in patients using thioridazine as drug of choice in psychiatric disorders. Materials and methods: a descriptive study was carried out in all patients who attended the Geriatric Service taking thioridazine in any doses during the period from March 2017 to March 2018. Results: female elder people aged 60-74 years predominated, with secondary school scholarship, finding a relationship with the double function of women in the current society, and the high level of scholarship among Cuban citizen. Arterial hypertension and diabetes antecedents predominated, and also palpitations related to the increase of His bundle blockade observed in electrocardiograms. There were no deaths. Conclusions: low doses of the drug should be used for a short time and under electrocardiographic supervision (AU).


Assuntos
Humanos , Idoso , Arritmias Cardíacas/diagnóstico , Tioridazina/uso terapêutico , Doenças Cardiovasculares/diagnóstico , Arritmias Cardíacas/induzido quimicamente , Doenças Cardiovasculares/induzido quimicamente , Epidemiologia Descritiva , Estudos Longitudinais , Pessoas Mentalmente Doentes , Demência/diagnóstico , Demência/terapia , Eletrocardiografia/métodos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/terapia
19.
Rev. chil. nutr ; 46(4): 443-450, ago. 2019.
Artigo em Espanhol | LILACS | 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
20.
Revista Digital de Postgrado ; 8(2): e166, ago. 2019. tab, ilus
Artigo em Espanhol | LILACS, 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
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