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1.
Arch. argent. pediatr ; 121(4): e202202756, ago. 2023. tab, ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1442694

ABSTRACT

Introducción. Los pacientes con síndrome de Down (SD) presentan características que pueden afectar su calidad de vida. El objetivo de este trabajo fue evaluar la calidad de vida relacionada con la salud (CVRS) en pacientes con síndrome de Down. Población y métodos. Se realizó un estudio de corte transversal para evaluar CVRS con el cuestionario PedsQL 4.0 a pacientes de 2 a 4 años con síndrome de Down y a pacientes sanos en 2020-2021 en un hospital universitario. Resultados. Se incluyeron 51 pacientes en cada grupo. El puntaje de CVRS en infantes con SD fue 82,1 vs. 88 (p = 0,003) comparado con población sin SD. La salud psicosocial fue la más afectada (p = 0,007), especialmente, en el funcionamiento social y el escolar (p = 0,0001). Conclusión. Se observó que los niños y niñas con SD de 2 a 4 años tuvieron menor CVRS. La escala de la salud psicosocial fue más afectada, especialmente, el funcionamiento social y el escolar.


Introduction. The characteristics of patients with Down syndrome (DS) may affect their quality of life. The objective of this study was to assess the health-related quality of life (HRQoL) in patients with DS. Population and methods. This was a cross-sectional study to assess the HRQoL with the PedsQL 4.0 questionnaire administered to patients with DS and healthy patients aged 2 to 4 years in 2020­2021 at a teaching hospital. Results. Each study group included 51 patients. The HRQoL score in children with DS was 82.1 compared to 88 (p = 0.003) in the population without DS. Psychosocial health was impacted the most (p = 0.007), especially in terms of social and school functioning (p = 0.0001). Conclusion. Children with DS aged 2 to 4 years were observed to have a lower HRQoL. The psychosocial health scale was affected the most, especially in terms of social and school functioning.


Subject(s)
Humans , Child, Preschool , Quality of Life/psychology , Down Syndrome/complications , Health Status , Cross-Sectional Studies , Surveys and Questionnaires
2.
Distúrb. comun ; 35(2): 55472, 02/08/2023.
Article in English, Portuguese | LILACS | ID: biblio-1444735

ABSTRACT

Objetivo: verificar se a idade das crianças com Trissomia do 21 e o tempo de uso por dia da placa palatina de memória influenciam a adaptação da criança à placa, as mudanças miofuncionais orofaciais percebidas pelos pais e a satisfação da família, após quatro meses de tratamento. Métodos: participaram do estudo14 pais ou responsáveis legais de crianças com Trissomia do 21, com idades de 3 a 20 meses. O tratamento com a placa palatina de memória foi realizado durante quatro meses. A adaptação da criança à placa, as mudanças miofuncionais orofaciais percebidas pelos pais e a satisfação das famílias em relação ao tratamento foram investigadas por meio de questionário elaborado pelos autores da pesquisa e respondido pelas mães após quatro meses de tratamento. Resultados: a média de idade das crianças que participaram do estudo foi 10 meses e o desvio-padrão de 4,9 meses. O resultado do questionário indicou associação entre idade e postura de lábios relatada pelos pais com o uso da placa palatina de memória, sendo que todas as crianças menores de 10 meses mantiveram o selamento labial, de acordo com os pais, durante o uso da placa; bem como entre idade e satisfação com o tratamento, sendo que as mães das crianças menores mostraram-se mais satisfeitas. Conclusão: os resultados do estudo indicam que houve associação entre idade e postura de lábios relatada pelos pais com o uso da placa, bem como entre idade e satisfação com o tratamento e sugerem que o tratamento precoce com a placa palatina de memória beneficia as crianças com Trissomia do 21. (AU)


Purpose: to verify if the age of children with Trisomy 21 and the time of use per day of the stimulating palatal plate influence the child's adaptation to the plate, the orofacial myofunctional changes perceived by the parents, and the family's satisfaction, after four months of treatment. Methods: 14 parents or legal guardians of children with Trisomy 21, aged between 3 and 20 months, participated in the study. Treatment with the stimulating palatal plate was carried out for four months. The child's adaptation to the plate, the orofacial myofunctional changes perceived by the parents, and the families' satisfaction with the treatment were investigated through a questionnaire prepared by the research authors and answered by the mothers after four months of treatment. Results: The mean age of the children who participated in the study was 10 months and the standard deviation was 4.9 months. The results of the questionnaire indicated an association between age and lip posture, reported by parents, during the use of the stimulating palatal plate, and all children under 10 months maintained lip closure, according to the parents, during the use of the plate. Age was also associated with satisfaction with the service, as the mothers of younger children were more satisfied. Conclusion: The study results indicate an association between age and lip posture, reported by the parents, during the use of the plate, and between age and satisfaction with the service. Thus, it suggests that early treatment with the stimulating palatal plate benefits children with Trisomy 21. (AU)


Objetivo: verificar si la edad de los niños con Trisomía 21 y el tiempo de uso por día de la placa palatina de memoria influyen en la adaptación del niño a la placa, los cambios miofuncionales orofaciales percibidos por los padres y la satisfacción de la familia, después de cuatro meses de tratamiento. Métodos: Participaron en el estudio 14 padres o tutores legales de niños con trisomía 21, con edades comprendidas entre los 3 y los 20 meses. El tratamiento con la placa de memoria palatina se llevó a cabo durante cuatro meses. La adaptación del niño al plato, los cambios miofuncionales orofaciales percibidos por los padres y la satisfacción de las familias con el tratamiento fueron investigados a través de un cuestionario elaborado por los autores y respondido por las madres, después de cuatro meses de tratamiento. Resultados: La edad media de los niños que participaron en el estudio fue de 10 meses y la desviación estándar fue de 4,9. El resultado del cuestionario indicó una asociación entre la edad y la postura de los labios, reportada por los padres, con el uso de la placa de memoria palatina, y todos los niños menores de 10 meses mantuvieron el sello de los labios, según los padres, durante el uso de la placa de memoria palatina, así como entre la edad y la satisfacción con el servicio. Las madres de niños más pequeños estaban más satisfechas. Conclusión: Los resultados del estudio indican que hubo asociación entre la edad y la postura de los labios, reportada por los padres, con el uso de la placa, así como entre la edad y la satisfacción con el servicio, y sugieren que el tratamiento temprano con la placa de memoria palatina beneficia a los niños con trisomía 21. (AU)


Subject(s)
Humans , Male , Female , Infant , Palatal Expansion Technique , Age Factors , Patient Satisfaction , Cross-Sectional Studies , Surveys and Questionnaires , Down Syndrome , Myofunctional Therapy , Mouth Abnormalities/rehabilitation
3.
Distúrb. comun ; 35(1): e57848, 01/06/2023.
Article in Portuguese | LILACS | ID: biblio-1436177

ABSTRACT

Na criança com Trissomia do 21 a dificuldade alimentar pode estar presente. Alguns sinais são as alterações na habilidade motora-oral, no processamento sensorial, tempo elevado das refeições, recusa alimentar prolongada e falta de autonomia. Ainda pouco se discute sobre as dificuldades alimentares e seu processo terapêutico nesta população. O objetivo deste estudo foi descrever a avaliação e intervenção fonoaudiológica e da terapia ocupacional na dificuldade alimentar de uma criança com Trissomia do 21 com o uso de estratégias de alimentação responsiva e integrativa. Criança 3 anos e 2 meses, sexo masculino. Avaliação fonoaudiológica demonstrou criança com distúrbio alimentar pediátrico, caracterizado por atraso na habilidade motora-oral, baixa percepção intraoral e comportamento alimentar altamente seletivo. Na avaliação da terapia ocupacional verificou-se perfil sensorial alterado. Na fonoterapia foram trabalhados aspectos como a percepção do alimento, ritmo e o tempo de alimentação. Na terapia ocupacional, o objetivo foi adequar nível de alerta, favorecer a independência e o desenvolvimento psicomotor. Após a intervenção, a reavaliação fonoaudiológica demonstrou que houve ampliação do cardápio, melhora da percepção, da habilidade motora intraoral, aceitação de diferentes utensílios e modos de apresentação do alimento, autonomia e prazer nas refeições. A reavaliação da terapia ocupacional mostrou um nível de alerta e atenção mais adequado, uso das mãos e dedos de maneira mais funcional para se alimentar. Foram observadas evoluções positivas em relação à intervenção fonoaudiológica e da terapia ocupacional na dificuldade alimentar de uma criança com Trissomia do 21 com o uso de estratégias de alimentação responsiva e integrativa. (AU)


In children with Trisomy 21 feeding difficulty can be observed, such as changes in oral motor skills, sensory processing, longer mealtimes, food refusal, lack of autonomy and others. However, there is little discussion about feeding difficulties and rehabilitation process in this population. This study aimed to describe speech-language and occupational therapy assessment and intervention in feeding difficulties in a 3-year and 2-month-old male child with a diagnosis of Trisomy 21. Speech-language pathology assessment found that the child had feeding difficulties, delay in oral motor skills, low intraoral perception and acceptance, while the occupational therapy assessment showed an altered sensory profile. The speech-language pathology sessions included aspects such as food perception, rhythm and feeding time. In turn, occupational therapy sessions aimed to adjust the alertness level, promote independence and psychomotor development. After the intervention, the speech-language pathology reassessment showed that there was an expansion of the menu for the ingestion, improvement in perception and intraoral motor skills, acceptance of different utensils and food presentation modes, autonomy and pleasure in meals. The reassessment of occupational therapy showed a better level of alertness and attention, more functional use of hands and fingers to eat. Therefore, a positive progress was observed in the feeding difficulty of a child with Trisomy 21 after a speech-language pathology and occupational therapy intervention with the use of responsive and integrative feeding strategies. (AU)


Niños con Trisomía 21, pueden presentar dificultades de alimentación. Algunos signos son cambios en las habilidades motrices orales, procesamiento sensorial, tiempos prolongados de comida, rechazo prolongado de alimentos y falta de autonomía. Hay poca discusión sobre las dificultades de alimentación y su proceso terapéutico en esta población. El objetivo deste estudio fue describir la evaluación e intervención fonoaudiológica y de terapia ocupacional en la dificultad de alimentación de un niño con Trisomía 21 utilizando estrategias de alimentación receptiva e integradora. Niño de 3 años y 2 meses. La evaluación fonoaudiológica mostró un trastorno alimentario pediátrico, caracterizado por un retraso en las habilidades motoras orales, percepción intraoral baja y comportamiento alimentario altamente selectivo. En la evaluación de terapia ocupacional se observó un perfil sensorial alterado. En fonoaudiología se trabajaron aspectos como la percepción de alimentos, ritmo y tiempo de alimentación. En terapia ocupacional, el objetivo fue ajustar el nivel de alerta, favoreciendo la independencia y desarrollo psicomotor. Después de la intervención, la reevaluación fonoaudiológica se evidenció una ampliación del menú, mejoras en percepción, motricidad intraoral, aceptación de diferentes utensilios y formas de presentar alimentos, autonomía y placer en las comidas. La reevaluación de terapia ocupacional mostró un nivel de alerta y atención más adecuado, uso de manos y dedos de forma más funcional para alimentarse. Fueron observadas evoluciones positivas con relación a la intervención fonoaudiológica y de terapia ocupacional en la dificultad de alimentación de un niño con Trisomía 21 con el uso de estrategias de alimentación receptiva e integradora. (AU)


Subject(s)
Humans , Male , Child, Preschool , Down Syndrome/complications , Feeding and Eating Disorders of Childhood/therapy , Evaluation of Results of Therapeutic Interventions , Feeding and Eating Disorders of Childhood/etiology
4.
Estud. pesqui. psicol. (Impr.) ; 23(1): 250-269, maio 2023.
Article in Portuguese | LILACS, INDEXPSI | ID: biblio-1434527

ABSTRACT

O estudo teve como objetivo conhecer as experiências de mães e médicos em relação ao comunicado do diagnóstico da síndrome de Down (SD). Trata-se de uma pesquisa exploratória e transversal, com delineamento qualitativo. Participaram 9 mães e 7 médicos. Foram realizadas 16 entrevistas semiestruturadas individuais. Os dados foram transcritos e submetidos à análise de conteúdo temática. Constatou-se que, para mães e médicos, é uma experiência complexa e difícil, permeada por sentimentos ambivalentes. Nas mães, predominam a tristeza, medo e angústia. A maioria delas sentiram-se insatisfeitas na maneira como receberam o diagnóstico, isso foi atribuído por elas e pelos médicos à falta de preparo durante a formação profissional. Conclui-se que algumas sugestões podem nortear a comunicação do diagnóstico, no intuito de favorecer a elaboração do mesmo, a saber: respeitar o tempo para a mãe observar e conhecer o bebê antes de receber o diagnóstico, comunicar a mãe com sensibilidade e empatia, preferencialmente na presença do outro genitor e de um psicólogo, procurar dar ênfase aos aspectos positivos da saúde do bebê.


The study aimed to know the experiences of mothers and doctors in relation to the statement of the Down syndrome (DS) diagnosis. This is a exploratory and transversal research, with a qualitative design. 9 mothers and 7 doctors participated. 16 individual semi-structured interviews were carried out. The data were transcribed and submitted to thematic content analysis. It was found that for mothers and doctors, it is a complex and difficult experience, permeated by ambivalent feelings. In mothers, sadness, fear and anguish predominate. Most of them felt dissatisfied in the way as they received the diagnosis, this was attributed by them and the doctors to the lack of preparation during vocational training. It is concluded that, some suggestions can guide the communication of the diagnosis, in order to favor its elaboration, namely: respect the time for the mother to observe and get to know the baby before receiving the diagnosis, communicate it to the mother with sensitivity and empathy, preferably in the presence of the other parent and a psychologist, try to emphasize the positive aspects of the baby's health.


El estudio tuvo como objetivo conocer las experiencias de madres y médicos en relación al comunicado del diagnóstico del síndrome de Down (SD). Se trata de una investigación exploratoria y transversal, con delineamiento cualitativo. Participaron 9 madres y 7 médicos. Se realizaron 16 entrevistas semiestructuradas individuales. Los datos fueron transcritos y sometidos al análisis de contenido temático. Se constató que, para madres y médicos, es una experiencia compleja y difícil, impregnada de sentimientos ambivalentes. En las madres predominan la tristeza, el miedo y la angustia. La mayoría de ellas se sintieron insatisfechas en la forma en que recibieron el diagnóstico, eso fue atribuido por ellas y por los médicos a la falta de preparación durante la formación profesional. Se concluye que algunas sugerencias pueden guiar la comunicación del diagnóstico, con el fin de favorecer la elaboración del mismo, a saber: respetar el tiempo para la madre observar y conocer al bebé antes de recibir el diagnóstico, comunicar la madre con sensibilidad y empatía, preferiblemente en presencia del otro progenitor y de un psicólogo, buscar dar énfasis a los aspectos positivos de la salud del bebé.


Subject(s)
Humans , Physicians , Truth Disclosure , Parenting , Down Syndrome/diagnosis , Communication , Life Change Events , Physician-Patient Relations , Brazil , Qualitative Research
5.
J. Health Sci. Inst ; 41(3)jul-sep 2023. Tabelas
Article in Portuguese | LILACS | ID: biblio-1531620

ABSTRACT

Objetivo ­ Avaliar as práticas de aleitamento materno em crianças com Síndrome de Down. O aleitamento materno é uma prática es-sencial para o desenvolvimento do hábito alimentar dos lactentes. O público que possui Síndrome de Down precisa de um auxílio nesse momento devido às características decorrentes da alteração genética que podem influenciar negativamente a prática. Métodos ­ Estudo transversal, com questionário direcionado a mães de crianças com Síndrome de Down participantes de grupos fe-chados de Síndrome de Down na rede social Facebook®, onde foram coletadas características socioeconômicas destas mulheres, além de características de sua gestação e informações pertinentes a crianças. Resultados ­ Observou-se que 44,0% tiveram dificuldade no aleitamento materno, e quase a metade das mães não conseguiram realizar o aleitamento materno exclusivo e a introdução alimentar de forma oportuna. Destaca-se, ainda, que 33,3% crianças receberam fórmula infantil e 30,5crianças leite de vaca. Conclusão ­ Diante deste cenário, é necessário que exista um acompanhamento dos profissionais da saúde durante a infância de indivíduos com Síndrome de Down, para que o desmame não ocorra precocemente.


Objective ­ To evaluate breastfeeding practices in children with Down syndrome. Breastfeeding is an essential practice for the development of infants eating habits. The public that has Down Syndrome needs help at this time due to the characteristics resulting from the genetic alteration that can negatively influence the practice. Methods ­ Cross-sectional study, questionnaire directed to mothers of children with Down Syndrome participating in closed groups of Down Syndrome on the social network Facebook®, where socioeconomic characteristics of these women were collected, as well as characteristics of their pregnancy and information relevant to the children. Results ­ It was observed that 44,0% had difficulties in breastfeeding, and almost half of the mothers were unable to perform exclusive breastfeeding and the introduction of food in a timely manner. It is also noteworthy that 33,3% children received an infant family and 30,5 children received cow's milk. Conclusion ­ Given this scenario, it is necessary that there is a monitoring of health professionals during childhood of obligation with Down Syndrome, so that weaning does not occur early.


Subject(s)
Humans , Infant, Newborn , Infant , Breast Feeding , Child , Down Syndrome , Mentors , Maternal Age , Milk , Muscle Hypotonia
6.
Rev. cuba. cir ; 62(1)mar. 2023.
Article in Spanish | CUMED, LILACS | ID: biblio-1515258

ABSTRACT

Introducción: El síndrome de Down comprende diversos grados de retraso mental y un número de rasgos característicos en su facies. Debido a que estos pacientes presentan problemas en la vida social, laboral y educacional se han buscado soluciones que hagan de estos niños, individuos socialmente útiles. Este artículo muestra los resultados obtenidos en 22 pacientes con este síndrome que fueron tratados quirúrgicamente para corregir sus estigmas faciales. Objetivo: Demostrar los cambios funcionales y ventajas estéticas que se obtienen con la cirugía plástica facial en el paciente con síndrome de Down. Métodos: Se escogieron 22 pacientes con síndrome de Down de 3 a 14 años de edad en el período comprendido de 1986 a enero 2019. Se incluyeron los 15 primeros casos atendidos en el Hospital Pediátrico Docente William Soler en el Servicio de Cirugía Plástica y posteriormente en otros centros nacionales de salud. Los procederes quirúrgicos realizados para la corrección de los estigmas faciales fueron: glosectomía parcial, cantoplastia lateral, cantoplastia media y otoplastia. Resultados: Los cambios estéticos y funcionales fueron favorables, lo que mejoró la apariencia y eliminó los rasgos no atractivos. Se obtuvieron cambios positivos en el lenguaje y la respiración. La glosectomía y cantoplastia se realizó en el 100 por ciento de los casos. Conclusiones: Todos los pacientes operados atenuaron sus estigmas faciales, mientras que se reportaron beneficios respiratorios y mejoría en la esfera del lenguaje. El grado de satisfacción de los padres fue bueno(AU)


Introduction: Down syndrome comprises varying degrees of mental retardation and a number of characteristic facial features. Because these patients present problems in their social, occupational and educational life, solutions have been sought to make these children socially useful individuals. This work shows the results obtained in 22 patients with this syndrome who were surgically treated to correct their facial stigmata. Objective: To show the functional changes and aesthetic advantages obtained with facial plastic surgery in patients with Down syndrome. Methods: A number of 22 patients with Down syndrome aged 3 to 14 years were chosen, in the period from 1986 to January 2019. The first 15 cases attended in the plastic surgery service of Hospital Pediátrico Docente William Soler were included; later, others attended in other national health centers. The surgical procedures performed for the correction of facial stigmata were partial glossectomy, lateral canthoplasty, medial canthoplasty, and otoplasty. Results: Aesthetic and functional changes were favorable, improving appearance and eliminating unattractive features. Positive changes in speech and breathing were obtained. Glossectomy and otoplasty were performed in 100 percent of cases. Conclusions: All operated-on patients attenuated their facial stigmata, while respiratory benefits and speech improvement were reported. The degree of satisfaction of their parents was good(AU)


Subject(s)
Humans , Child , Down Syndrome/etiology
7.
REME rev. min. enferm ; 27: 1508, jan.-2023.
Article in English, Portuguese | LILACS, BDENF | ID: biblio-1526585

ABSTRACT

Objetivo: compreender as percepções maternas acerca do diagnóstico de Síndrome de Down (SD) de seus filhos quando crianças. Método: estudo exploratório-descritivo com abordagem qualitativa realizado com 9 mães de crianças com SD em um hospital público de nível terciário no município de São Paulo. A coleta dos dados ocorreu por meio de entrevistas individuais e semiestruturadas, guiadas por roteiro de tópicos. Os dados foram analisados por meio da análise temática de conteúdo e à luz dos princípios de ancoragem e objetivação da Teoria das Representações Sociais. Resultados: Os dados foram analisados e emergiram duas categorias principais: 1) as percepções maternas em relação à comunicação do diagnóstico de SD do filho; e 2) as percepções maternas acerca do impacto do diagnóstico de SD do filho, com subcategorias interligadas. Conclusão: constatou-se manejo predominantemente inadequado dos profissionais ao comunicarem o diagnóstico de SD, o que potencializou as reações emocionais de sofrimento, que não se restringiram ao momento da notícia. As reações podem ser amenizadas ou potencializadas com a vivência da maternagem e com interações familiares, sociais e com profissionais de saúde.(AU)


Objective: to understand maternal perceptions about the diagnosis of Down Syndrome (DS) of their children as children. Method: Exploratory-descriptive study with a qualitative approach carried out with 9 mothers of children with DS in a tertiary public hospital in the city of São Paulo. Data collection took place through individual and semi-structured interviews, guided by a script of topics. Data were analyzed using thematic content analysis and considering the principles of anchoring and objectification of the Theory of Social Representations. Results: data were analyzed, and two main categories emerged: 1) maternal perceptions regarding communication of the child's DS diagnosis; and 2) maternal perceptions about the impact of the child's DS diagnosis, with interconnected subcategories. Conclusion: There was predominantly inadequate management by professionals when communicating the diagnosis of DS, which potentiated the emotional reactions of suffering, which were not restricted to the moment of the news. Reactions can be mitigated or enhanced with the experience of motherhood and with family and social interactions and with health professionals.(AU)


Objetivo: comprender las percepciones maternas sobre el diagnóstico del niño con Síndrome de Down (SD). Método: estudio exploratorio-descriptivo con enfoque cualitativo, realizado con madres de niños con SD, en un hospital público de tercer nivel, en el municipio de São Paulo. La recolección se realizó a través de entrevistas individuales y semiestructuradas, regidas por un guión de temas. Los datos fueron analizados mediante análisis temático de contenido y a la luz de los principios de anclaje y objetivación de la Teoría de las Representaciones Sociales. Resultados: participaron 9 madres de niños con SD. Los datos se analizaron y surgieron dos categorías principales: 1) Percepciones maternas sobre la comunicación del diagnóstico de SD del hijo, y 2) Percepciones maternas sobre el impacto del diagnóstico de SD del hijo, con subcategorías interconectadas. Conclusión: se constató manejo predominantemente inadecuado de los profesionales en la comunicación del diagnóstico de SD, lo que potenció las reacciones emocionales de sufrimiento, que no se restringieron al momento de la noticia. Las reacciones se pueden mitigar o mejorar con la experiencia de la maternidad, las interacciones con los miembros de la familia, los profesionales de la salud y sociales.(AU)


Subject(s)
Humans , Female , Adolescent , Adult , Down Syndrome/diagnosis , Mother-Child Relations , Down Syndrome/nursing , Interview , Qualitative Research , Maternal Behavior/psychology
8.
Article in Portuguese | LILACS, CONASS, ColecionaSUS, SES-GO | ID: biblio-1526560

ABSTRACT

A Deficiência Intelectual (DI) se caracteriza por déficits funcionais, intelectuais, funções adaptativas, ou seja, os padrões de desenvolvimento e socioculturais relacionados à independência pessoal e responsabilidade social não são atingidos adequadamente. Objetivo: Avaliar o impacto familiar e a sobrecarga em cuidadores familiares de crianças e adolescentes com DI. Métodos: Estudo transversal de caráter analítico. Os dados foram coletados na Clínica Intelectual, de um Centro de Reabilitação e Readaptação. Foram aplicadas a Escala de Impacto Familiar, Escala de Burden Interview e dois questionários, um sobre o perfil sociodemográfico de cuidadores familiares e outro de perfil demográfico e clínico de crianças e adolescentes com DI. Resultados: Foram entrevistados 50 participantes, a maioria do gênero feminino, com baixa renda mensal e que dedicam maior parte do tempo aos seus filhos. O estudo evidenciou que o diagnóstico da DI pode gerar impactos moderados e em partes, baixa sobrecarga, na vida destes cuidadores. A baixa escolaridade, baixa renda mensal e as rupturas de papéis ocupacionais influenciaram os resultados encontrados. Conclusões: O acesso aos estudos, mercado de trabalho e suporte financeiro, podem repercutir de forma positiva na vida dos cuidadores familiares, diminuindo o impacto e a sobrecarga que o diagnóstico da DI pode causar


Intellectual Disability (ID) is characterized by functional, intellectual and adaptive function deficits, that is, developmental and socioculturais standards related to personal independence and social responsibility are not adequately achieved. Objective: To assess the family impact and burden on family caregivers of children and adolescents with ID. Methods: Analytical cross-sectional study. Data were collected at Clínica Intelectual, from a Rehabilitation and Readaptation Center. The Family Impact Scale, the Burden Interview Scale and two questionnaires were applied, one on the sociodemographic profile of family caregivers and the other on the demographic and clinical profile of children and adolescents with ID. Results: 50 participants were interviewed, mostly female, with low monthly income and who dedicate most of their time to their children. The study showed that the diagnosis of ID can generate moderate impacts and in parts, low burden, in the lives of these caregivers. Low schooling, low monthly income and ruptures in occupational roles influenced the results found. Conclusions: Access to studies, the job market and financial support can have a positive impact on the lives of family caregivers, reducing the impact and burden that the diagnosis of ID can cause


Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , Middle Aged , Caregivers/psychology , Cerebral Palsy , Cross-Sectional Studies , Down Syndrome , Autism Spectrum Disorder , Family Support
9.
Acta Medica Philippina ; : 52-58, 2023.
Article in English | WPRIM | ID: wpr-980437

ABSTRACT

Objective@#To describe various local and systemic factors as the cause of gingivitis and to find out the main etiological factors of gingivitis in children with DS.@*Methods@#We searched PubMed and Google Scholar for Indonesian and English references either in the form of textbook, research results, reviews, and internet articles on the topic. We screened and selected the relevant articles for inclusion into the review. @*Results@#In children with DS, apart from poor oral hygiene, the increasing incidence of gingivitis is caused by changes in other local factors related to systemic factors, such as oral dysfunction, dental and gingival abnormalities, changes in the oral microbial profile, and salivary characteristics. Furthermore, systemic immunodeficiency, changes in inflammatory mediators and proteolytic enzymes, and intellectual subnormality are considered as systemic factors.@*Conclusion@#There is no main etiological factor of gingivitis in children with DS since various local and systemic factors are interrelated with each other causing gingivitis. The severity of gingivitis in children with DS presumably were caused by the systemic factors. Furthermore, good oral hygiene habits and the dentist's intervention in periodontal health can significantly reduce gingivitis in DS patients.


Subject(s)
Child , Down Syndrome , Gingivitis , Oral Health
10.
Chinese Journal of Medical Genetics ; (6): 135-142, 2023.
Article in Chinese | WPRIM | ID: wpr-970893

ABSTRACT

OBJECTIVE@#To assess the clinical efficacy and health economic value of non-invasive prenatal testing (NIPT) for the prenatal screening of common fetal chromosomal aneuploidies.@*METHODS@#10 612 pregnant women from October 2017 to December 2019 presented at the antenatal screening clinic of the General Hospital of Tianjin Medical University were selected as the study subjects. Results of NIPT and invasive prenatal diagnosis and follow-up outcome for the 10 612 pregnant women were retrospectively analyzed and compared. Meanwhile, NIPT data for two periods were analyzed for assessing the health economic value of NIPT as the second- or first-tier screening strategy for the prenatal diagnosis of fetal trisomies 21, 18 and 13.@*RESULTS@#The NIPT was successful in 10 528 (99.72%) subjects, with the sensitivity for fetal trisomies 21, 18 and 13 being 100%, 92.86% and 100%, and the positive predictive value (PPV) being 89.74%, 61.90% and 44.44%, respectively. The PPV of NIPT for sex chromosome aneuploidies was 34.21%. Except for one false negative case of trisomy 18, the negative predictive value for trisomy 21, trisomy 13 and other chromosomal abnormalities were 100%. For pregnant women with high risk by serological screening, advanced maternal age or abnormal ultrasound soft markers, NIPT has yielded a significantly increased high risk ratio. There was no statistical difference in the PPV of NIPT among pregnant women from each subgroup. NIPT would have higher health economic value as a second-tier screening until 2019, while compared to 2015 ~ 2017, its incremental cost-effectiveness ratio as a first-tier screening had declined clearly.@*CONCLUSION@#The screening efficacy of NIPT for trisomies 21, 18 and 13 for a mixed population is significantly better than conventional serological screening, but it is relatively low for sex chromosomal abnormalities. NIPT can also be recommended for populations with relatively high risks along with detailed pre- and post-test genetic counselling. From the perspective of health economics, except for open neural tube defects, it is possible for NIPT to replace the conventional serological screening in the future as its cost continues to decrease.


Subject(s)
Pregnancy , Female , Humans , Trisomy/genetics , Retrospective Studies , Prenatal Diagnosis/methods , Down Syndrome/genetics , Aneuploidy , Chromosome Aberrations , Trisomy 18 Syndrome/genetics , Sex Chromosome Aberrations , Fetus
11.
Journal of Central South University(Medical Sciences) ; (12): 877-886, 2023.
Article in English | WPRIM | ID: wpr-982359

ABSTRACT

OBJECTIVES@#Congenital birth defects are the main source of disease burden among children under 5 years old in China. This study aims to compare the trends in disease burden of different congenital birth defects among Chinese children under 5 years old from 1990 to 2019, and to provide a scientific basis for strengthening the comprehensive prevention and control of birth defects.@*METHODS@#Based on data from the Global Burden Disease (GBD) in 2019, the incidence mortality rate, and disability-adjusted life years (DALYs) rate of congenital birth defects among Chinese children under 5 years old from 1990 to 2019 were selected as evaluation indicators. The Joinpoint regression model was used to analyze the trends in disease burden of different types with congenital birth defects over three decades. The study also compared the differences in disease burden of congenital birth defects among children under 5 years old by gender.@*RESULTS@#Compared to 1990, the DALYs rates of congenital heart anomalies (1 931.91/100 000), digestive congenital anomalies (364.63/100 000), neural tube defects (277.20/100 000), congenital musculoskeletal and limb anomalies (133.33/100 000), and Down syndrome (128.22/100 000) in children under 5 years old in China in 2019 were decreased 70.78%, 71.61%, 86.21%, 36.84% and 73.65%, respectively. From 1990 to 2019, the mortality rates and DALYs rates of different congenital birth defects showed an overall downward trend, but the incidence of digestive congenital anomalies and Down syndrome showed an upward trend after 2005 and 2001, respectively. Except for congenital musculoskeletal and limb anomalies, incidence of the remaining categories of birth defects were higher in boys than that in girls.@*CONCLUSIONS@#The disease burden of congenital birth defects in children under 5 years old in China is decreased substantially from 1990 to 2019, but the burden of congenital heart anomalies is still serious and the incidence of some birth defect diseases is on the rise, and it is still crucial to strengthen the prevention and treatment for birth defects in children and propose targeted measures according to their gender characteristics.


Subject(s)
Child, Preschool , Female , Humans , Male , China/epidemiology , Cost of Illness , Down Syndrome/epidemiology , East Asian People , Congenital Abnormalities/epidemiology
12.
Psicol. ciênc. prof ; 43: e249352, 2023.
Article in Portuguese | LILACS, INDEXPSI | ID: biblio-1422397

ABSTRACT

Com este estudo buscou-se conhecer as dificuldades e barreiras de pais na educação sexual de jovens com Síndrome de Down, a partir de uma pesquisa descritiva e de natureza qualitativa, utilizando-se o conceito das representações sociais como referencial teórico-metodológico. O estudo foi conduzido em uma Organização Não Governamental (ONG), localizada em Recife (PE), após aprovação do Comitê de Ética e Pesquisa, sob parecer consubstanciado 3.558.587. A amostra do estudo envolveu 11 pais de jovens com Síndrome de Down com idades entre 15 e 24 anos. A coleta de dados foi realizada por meio de entrevistas semiestruturadas. A abordagem escolhida para a interpretação desses dados foi a análise de conteúdo proposta por Bardin. Pode-se elencar como principais dificuldades enfrentadas pelos pais ao conversarem com seus filhos sobre sexualidade: a infantilização do jovem com Síndrome de Down, julgando-o incapaz de experienciar tais fenômenos e compreender a orientação que pudesse ser repassada; o medo em ultrapassar etapas e, de repente, "estimular" o filho a viver sua sexualidade de maneira "precoce"; e o fato de os pais também terem recebido pouca ou nenhuma orientação sexual por parte de suas famílias. Diante das narrativas dos pais, é possível perceber que ainda são muitos os mitos, tabus e preconceitos que permeiam a sexualidade dos jovens com Síndrome de Down, demonstrando que os responsáveis estão despreparados para dar as devidas orientações.(AU)


This study sought to know the difficulties and barriers of parents in the sexual education of young people with Down Syndrome, from a descriptive, qualitative study, using the concept of social representations as a theoretical-methodological framework. The study was conducted in a Non-Governmental Organization (NGO), located in Recife (PE) after approval by the Ethics and Research Committee, under substantiated opinion 3,558,587. The study sample involved 11 parents of young people with Down Syndrome aged between 15 and 24 years. The data collection was carried out by using semi-structured interviews. The approach chosen for interpretation of these data was the content analysis proposed by Bardin. The main difficulties faced by parents in talking with their children about sexuality can be listed as: the infantilization of young persons with Down Syndrome, deeming them incapable of experiencing such phenomena and understanding the guidance that could be given; the fear of overshooting the stages and, suddenly, "stimulating" the child to live their sexuality in an "early" way; and the facts of the parents also having received little or no sexual guidance from their families. Given the parents' narratives, it is possible to realize that there are still many myths, taboos, and prejudices that permeate the sexuality of young people with Down Syndrome, demonstrating that parents were unprepared to provide the right guidance.(AU)


Este estudio buscó conocer las dificultades y barreras de los padres en la educación sexual de los jóvenes con síndrome de Down a partir de un estudio descriptivo, cualitativo, que utilizó el concepto de representaciones sociales como marco teórico-metodológico. La investigación se llevó a cabo en una Organización No Gubernamental (ONG), ubicada en la ciudad de Recife (Pernambuco, Brasil), después de la aprobación del Comité de Ética e Investigación, bajo la opinión fundamentada 3.558.587. La muestra del estudio incluyó a 11 padres de jóvenes con síndrome de Down con edades comprendidas entre 15 y 24 años. La recolección de datos se realizó mediante entrevista semiestructurada. El enfoque elegido para la interpretación de los datos fue el análisis de contenido propuesto por Bardin. Pueden enumerarse como las principales dificultades que enfrentan los padres para hablar sobre la sexualidad con sus hijos: la infantilización del joven con síndrome de Down, considerándolo incapaz de experimentar tales fenómenos y comprender la orientación que se le puede dar; el miedo de ir más allá de las etapas y, de repente, "estimular" al niño a vivir su sexualidad de una manera "temprana"; y el hecho de que los padres también habían recibido poca o ninguna orientación sexual de sus familias. Dadas las narraciones de los padres, es posible darse cuenta de que todavía hay muchos mitos, tabúes y prejuicios sobre la sexualidad de los jóvenes con síndrome de Down, lo que muestra que los padres no estaban preparados para brindarles este tipo de orientación.(AU)


Subject(s)
Humans , Male , Female , Adolescent , Young Adult , Parents , Sex Education , Down Syndrome , Sexuality , Psychology , Repression, Psychology , Sex , Shame , Biology , Puberty , Privacy , Social Integration , Hormones , Acculturation , Libido , Masturbation
13.
Rev. Bras. Saúde Mater. Infant. (Online) ; 23: e20220231, 2023. tab, graf
Article in English | LILACS | ID: biblio-1440915

ABSTRACT

Abstract Objectives: to construct and validate educational videos as part of the LISA Down Program - Literacy and Innovation in Health for Adolescents with Down Syndrome. Methods: this is a methodological study of construction and validation of educational videos based on health literacy designed for adolescents with Down syndrome, assisted by an Associação de Pais e Amigos dos Excepcionais (APAE) (Association of Parents and Friends of the Exceptional) located in the Northeast of Brazil. The stages of construction and validation of the vídeos were: pre-production, production and post-production. The storyboards were prepared according to the fundamentals of health literacy and validated by seven expert judges. Subsequently, the storyboards were transformed into videos (production) and these were evaluated by 13 adolescents with Down Syndrome (postproduction). Results: the storyboards totaled 248 scenes, ranging from 39 to 67 scenes each, were approved by the judges with percentages of agreement ranging from 94% to 100%. The vídeos recorded were approved by adolescentes with Down syndrome, in agreement of percentages ranging from 79.17% to 83.33%. Conclusion: the educational vídeos were validated and well evaluated and, therefore, can be used among adolescents in social spaces in which the focus of attention is adolescentes with Down syndrome.


Resumo Objetivos: construir e validar vídeos educativos como parte do Programa LISA Down- Letramento e Inovação em Saúde para Adolescentes com Síndrome de Down. Métodos: trata-se de estudo metodológico de construção e validação de vídeos educativos fundamentados no letramento em saúde arquitetados para adolescentes com síndrome de Down, atendidos por uma Associação de Pais e Amigos dos Excepcionais (APAE), localizada no Nordeste brasileiro. As etapas da construção e validação dos vídeos foram: pré-produção, produção e pósprodução. Os storyboards foram elaborados de acordo com os fundamentos do letramento em saúde e validados por sete juízes especialistas. Na sequência os storyboards foram transformados em vídeos (produção) e estes foram avaliados por 13 adolescentes com Síndrome de Down (pós-produção). Resultados: os storyboards totalizaram 248 cenas, variando de 39 a 67 cenas cada um, foram aprovados pelos juízes com percentuais de concordância que variaram de 94% a 100%. Os vídeos gravados foram aprovados pelos adolescentes com síndrome de Down, com percentuais de concordância que variaram de 79,17% a 83,33%. Conclusão: os vídeos educativos foram validados e bem avaliados e, portanto, podem ser utilizados entre adolescentes em espaços sociais nos quais o foco da atenção sejam os adolescentes com síndrome de Down.


Subject(s)
Humans , Male , Female , Adolescent , Health Education , Down Syndrome , Instructional Film and Video , Health Literacy
14.
Psicol. ciênc. prof ; 43: e244244, 2023.
Article in Portuguese | LILACS, INDEXPSI | ID: biblio-1448957

ABSTRACT

Com os avanços tecnológicos e o aprimoramento da prática médica via ultrassonografia, já é possível detectar possíveis problemas no feto desde a gestação. O objetivo deste estudo foi analisar a prática do psicólogo no contexto de gestações que envolvem riscos fetais. Trata-se de um estudo qualitativo sob formato de relato de experiência como psicólogo residente no Serviço de Medicina Fetal da Maternidade Escola da Universidade Federal do Rio de Janeiro (UFRJ). Os registros, feitos por observação participante e diário de campo, foram analisados em dois eixos temáticos: 1) intervenções psicológicas no trabalho em equipe em consulta de pré-natal, exame de ultrassonografia e procedimento de amniocentese; e 2) intervenções psicológicas em casos de bebês incompatíveis com a vida. Os resultados indicaram que o psicólogo nesse serviço é essencial para atuar de forma multiprofissional na assistência pré-natal para gravidezes de alto risco fetal. Ademais, a preceptoria do residente é relevante para sua formação e treinamento para atuação profissional no campo da psicologia perinatal.(AU)


Face to the technological advances and the improvement of medical practice via ultrasound, it is already possible to detect possible problems in the fetus since pregnancy. The objective of this study was to analyze the psychologist's practice in the context of pregnancies which involve fetal risks. It is a qualitative study based on an experience report as a psychologist trainee at the Fetal Medicine Service of the Maternity School of UFRJ. The records, based on the participant observation and field diary, were analyzed in two thematic axes: 1) psychological interventions in the teamwork in the prenatal attendance, ultrasound examination and amniocentesis procedure; and 2) psychological interventions in cases of babies incompatible to the life. The results indicated that the psychologist in this service is essential to work in a multidisciplinary way at the prenatal care for high fetal risk pregnancies. Furthermore, the resident's preceptorship is relevant to their education and training for professional performance in the field of Perinatal Psychology.(AU)


Con los avances tecnológicos y la mejora de la práctica médica a través de la ecografía, ya se puede detectar posibles problemas en el feto desde el embarazo. El objetivo de este estudio fue analizar la práctica del psicólogo en el contexto de embarazos de riesgos fetal. Es un estudio cualitativo basado en un relato de experiencia como residente de psicología en el Servicio de Medicina Fetal de la Escuela de Maternidad de la Universidade Federal do Rio de Janeiro (UFRJ). Los registros, realizados en la observación participante y el diario de campo, se analizaron en dos ejes temáticos: 1) intervenciones psicológicas en el trabajo en equipo, en la consulta prenatal, ecografía y los procedimientos de amniocentesis; y 2) intervenciones psicológicas en casos de bebés incompatibles con la vida. Los resultados señalaron como fundamental la presencia del psicólogo en este servicio trabajando de forma multidisciplinar en la atención prenatal en el contexto de embarazos de alto riesgo fetal. Además, la tutela del residente es relevante para su educación y formación para el desempeño profesional en el campo de la Psicología Perinatal.(AU)


Subject(s)
Humans , Female , Pregnancy , Prenatal Care , Pregnancy, High-Risk , Psychosocial Intervention , Heart Defects, Congenital , Anxiety , Orientation , Pain , Parent-Child Relations , Parents , Paternity , Patient Care Team , Patients , Pediatrics , Placenta , Placentation , Pregnancy Complications , Pregnancy Maintenance , Prognosis , Psychoanalytic Theory , Psychology , Puerperal Disorders , Quality of Life , Radiation , Religion , Reproduction , Reproductive and Urinary Physiological Phenomena , General Surgery , Syndrome , Congenital Abnormalities , Temperance , Therapeutics , Urogenital System , Bioethics , Physicians' Offices , Infant, Premature , Labor, Obstetric , Pregnancy , Pregnancy, Animal , Pregnancy Outcome , Adaptation, Psychological , Pharmaceutical Preparations , Echocardiography , Magnetic Resonance Spectroscopy , Family , Abortion, Spontaneous , Child Rearing , Child Welfare , Mental Health , Family Health , Survival Rate , Life Expectancy , Cause of Death , Ultrasonography, Prenatal , Chromosome Mapping , Parental Leave , Mental Competency , Polycystic Kidney, Autosomal Recessive , Down Syndrome , Perinatal Care , Comprehensive Health Care , Chemical Compounds , Depression, Postpartum , Neurobehavioral Manifestations , Disabled Children , Diagnostic Techniques and Procedures , Gravidity , Crisis Intervention , Affect , Cytogenetic Analysis , Spirituality , Complicity , Value of Life , Humanizing Delivery , Death , Decision Making , Defense Mechanisms , Abortion, Threatened , Delivery of Health Care , Dementia , Uncertainty , Organogenesis , Qualitative Research , Pregnant Women , Early Diagnosis , Premature Birth , Nuchal Translucency Measurement , Child Mortality , Depression , Depressive Disorder , Postpartum Period , Diagnosis , Diagnostic Techniques, Obstetrical and Gynecological , Ethanol , Ego , Emotions , Empathy , Environment , Humanization of Assistance , User Embracement , Ethics, Professional , Cell Nucleus Shape , Prenatal Nutrition , Cervical Length Measurement , Family Conflict , Family Therapy , Resilience, Psychological , Reproductive Physiological Phenomena , Female Urogenital Diseases and Pregnancy Complications , Gestational Sac , Brief, Resolved, Unexplained Event , Fetal Death , Embryonic and Fetal Development , Multimodal Imaging , Mortality, Premature , Clinical Decision-Making , Pediatric Emergency Medicine , Child, Foster , Freedom , Burnout, Psychological , Birth Setting , Frustration , Sadness , Respect , Psychological Distress , Genetics , Psychological Well-Being , Obstetricians , Guilt , Happiness , Health Occupations , Hospitalization , Hospitals, Maternity , Hospitals, University , Human Development , Human Rights , Imagination , Infections , Infertility , Anencephaly , Jurisprudence , Obstetric Labor Complications , Licensure , Life Change Events , Life Support Care , Loneliness , Love , Medical Staff, Hospital , Intellectual Disability , Morals , Mothers , Narcissism , Congenital, Hereditary, and Neonatal Diseases and Abnormalities , Neonatology , Nervous System Malformations , Object Attachment
15.
Estud. Psicol. (Campinas, Online) ; 40: e210053, 2023. tab, graf
Article in English | LILACS, INDEXPSI | ID: biblio-1440110

ABSTRACT

Objective: The objective of this study was to evaluate the influence of the presence of siblings with normal development on the burden and quality of life of parents of adolescents with Down syndrome. Methods: Cross sectional and correlational study with 25 caregivers divided in two groups: parents who had only children with Down syndrome and parents with other children with normal development. The caregivers were selected from a convenient sample and answered the World Health Organization Quality of Life, Zarit Burden Interview and Brazil's Economic Classification Criteria. Results: It was found that both groups experienced moderate burden and regular quality of life for most families, with no significant difference. Conclusion: It was concluded that the presence of siblings with normal development was not a factor influencing the burden and quality of life of parents of adolescents with Down syndrome.


Objetivo: O objetivo deste estudo foi avaliar a influência da presença de irmãos com desenvolvimento típico na sobrecarga e na qualidade de vida de pais de adolescentes com síndrome de Down. Métodos: Foi realizado um estudo transversal e correlacional, com 25 cuidadores divididos em dois grupos: pais com filhos únicos com síndrome de Down e pais com outros filhos com desenvolvimento típico. Os cuidadores foram selecionados a partir de uma amostragem de conveniência e responderam ao World Health Organization Quality of Life, ao Zarit Burden Interview e ao Critério de Classificação Econômica Brasil. Resultados: Verificou-se que ambos os grupos apresentaram sobrecarga moderada e qualidade de vida regular para a maioria das famílias, não havendo diferença significativa. Conclusão: Conclui-se que a presença de irmãos com desenvolvimento típico não foi fator de influência na sobrecarga e na qualidade de vida de pais de adolescentes com síndrome de Down.


Subject(s)
Quality of Life , Family , Caregivers , Down Syndrome , Family Relations
16.
Rev. chil. obstet. ginecol. (En línea) ; 87(6): 419-424, dic. 2022. tab, ilus
Article in Spanish | LILACS | ID: biblio-1423744

ABSTRACT

The coexistence of double aneuploidy of Down and Turner syndromes is rare; most cases have been due to double mitotic errors. The objective of the study was to report a case with monosomy of the X chromosome and trisomy of chromosome 21, in mosaic variety, highlighting the phenotypic effect that the presence of different chromosomal abnormalities can produce and compare with those reported in the literature. A 10-year-old Ecuadorian female, born to a multipregnant mother with 46 years at conception, is seen in consultation with a predominant clinical phenotype of Down syndrome, associated with menarche, presence of pubic and axillary villu, where a karyotype is verified 45 X[7]/47XX+ 21 [3]/46, X, der (X)(: p11.1-> q11.1)[1]/46,XX [1]. The present case is a double Turner-Down aneuploidy, with predominantly X monosomy cell line, who shows important mental retardation and some signs of puberal development not usually in Turner syndrome. These features highlight the clinical importance of doing a karyotype in mental retardation cases and searching low mosaics of another aneuploidies in atypical cases. Its complex chromosomal formula and support with molecular cytogenetics allowed diagnostic confirmation and genetic counseling.


La coexistencia de doble aneuploidía de los síndromes de Down y Turner es rara; la mayoría de los casos se han debido a dobles errores mitóticos. Reportar un caso con trisomía del cromosoma 21 y monosomía del cromosoma en X, en variedad mosaico, que curiosamente presenta un despertar puberal precoz y comparar con los reportados en la literatura. Paciente ecuatoriana de sexo femenino, de 10 años de edad, nacida de madre multigesta con 46 años a la concepción, que es vista en consulta con fenotipo clínico predominante de Síndrome Down, asociado a menarquia y telarquia, donde se constata un cariotipo. El presente caso es el primero informado de mosaicismo de doble aneuploidía de Turner-Down asociado con un despertar puberal precoz. Su fórmula cromosómica compleja y el apoyo con la citogenética molecular permitió la confirmación diagnostica y la asesoría genética.


Subject(s)
Humans , Female , Child , Turner Syndrome/complications , Down Syndrome/complications , Turner Syndrome/diagnosis , Turner Syndrome/genetics , In Situ Hybridization, Fluorescence , Down Syndrome/diagnosis , Down Syndrome/genetics , Cytogenetic Analysis , Aneuploidy , Mosaicism
17.
Arch. pediatr. Urug ; 93(2): e308, dic. 2022. ilus
Article in Spanish | LILACS, UY-BNMED, BNUY | ID: biblio-1383654

ABSTRACT

Las cataratas son una causa importante de discapacidad visual en la población pediátrica en todo el mundo y pueden afectar significativamente el neurodesarrollo de un niño. Constituyen un problema fundamental en cuanto a su manejo y una de las causas más relevantes de ceguera tratable en los países desarrollados y en vías de desarrollo. La trisomía 21 es la cromosomopatía más frecuente, de características fenotípicas determinadas con un 60% de anormalidades oculares, entre las que se destacan las ametropías, queratocono y las cataratas. El diagnóstico clínico y la identificación temprana del tipo de cataratas, junto con intervenciones clínicas y tratamientos precoces, son claves para lograr resultados óptimos. Se presenta el caso de un recién nacido con síndrome de Down y catarata congénita bilateral y su manejo inicial.


Cataracts are a major cause of visual impairment in the pediatric population worldwide and can significantly affect a child's neurobiological development. Congenital cataract management can become a very important problem and is one of the most important causes of blindness in developed and developing countries. Trisomy 21 is the most common chromosomal disease and it has certain phenotypic characteristics and 60% ophthalmic abnormalities, such as, ametropia, keratoconus and cataracts. The diagnosis is fundamentally clinical. Early identification, diagnosis, and appropriate clinical care are key to achieve optimal results. We present the case of a newborn with Down syndrome who was diagnosed with an early bilateral congenital cataract.


A catarata é uma das principais causas de deficiência visual na população pediátrica no mundo e pode afetar significativamente o neurodesenvolvimento de uma criança, além de constituir um problema fundamental em termos de sua gestão e é uma das causas mais relevantes de cegueira tratável em países desenvolvidos e em desenvolvimento. Trissomia 21 é a cromossomopatia mais frequente e tem determinadas características fenotípicas com 60% de alterações oculares, como a ametropia, ceratocone e catarata. O diagnóstico clínico e a identificação precoce do tipo de catarata, juntamente com intervenções clínicas e tratamento precoces, são fundamentais para alcançar os melhores resultados. Apresentamos o caso de um recém-nascido com síndrome de Down e catarata congênita bilateral e seu manejo inicial.


Subject(s)
Humans , Male , Infant, Newborn , Cataract/congenital , Cataract Extraction , Down Syndrome/complications
18.
Oncología (Guayaquil) ; 32(3): 359-365, 2 de diciembre del 2022.
Article in Spanish | LILACS | ID: biblio-1411157

ABSTRACT

Introducción: Los tumores de las células germinales son la neoplasia maligna del ovario más pre-valente en adolescentes y niñas, son detectados generalmente en estadios iniciales. No se conoce la asociación con el síndrome de Down, motivo de presentación del presente caso. Caso Clínico: Se presenta el caso de una niña de 13 años de edad con síndrome de Down, referida por una masa supra púbica dolorosa de dos meses de evolución. Taller diagnóstico: Los estudios de extensión detectaron un tumor a nivel pélvico dependiente de ovario izquierdo, por lo que se planificó una tumorectomía. El estudio histopatológico determinó la presencia de un tumor germinal con componente de disgerminoma y trofoblástico. Evolución: La paciente fue prescrita con tratamiento quimioterápico, con una evolución favorable a los 16 meses de seguimiento. Conclusión: la clínica clásica de tumores de células germinales en el síndrome de Down es poco indicativa; en la mayoría de los casos se trata de preservar la fertilidad, inclusive siendo niñas porta-doras de Síndrome de Down. El seguimiento en el presente caso ha sido favorable a 16 meses.


Introduction: Germ cell tumors are the most prevalent ovarian malignancy in adolescents and girls; they are generally detected in early stages. The association with Down syndrome, the reason for presenting this case, is unknown. Clinical Case: We present the case of a 13-year-old girl with Down syndrome, referred by a painful suprapubic mass with two months of evolution. Diagnostic workshop: The extension studies detected a tumor at the pelvic level dependent on the left ovary, for which a lumpectomy was planned. The histopathological examination determined the presence of a germ cell tumor with a dysgerminoma and trophoblastic component. Evolution: The patient was prescribed chemotherapy treatment, with favorable development at 16 months of follow-up. Conclusion: The classic symptoms of germ cell tumors in Down syndrome are not very indicative; In most cases, it is about preserving fertility, even when girls are carriers of Down Syndrome. Follow-up, in this case, has been favorable for 16 months.


Subject(s)
Humans , Female , Adolescent , Down Syndrome , Dysgerminoma , Ovarian Neoplasms , Adolescent
19.
Arch. argent. pediatr ; 120(6): e287-e290, dic. 2022. tab, ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1399819

ABSTRACT

El síndrome de Down (SD) es la anomalía cromosómica más frecuente entre los recién nacidos vivos. La atrofia muscular espinal (AME), por su parte, es una enfermedad neuromuscular caracterizada por la degeneración progresiva de las motoneuronas del asta anterior de la médula espinal que produce atrofia muscular, debilidad y parálisis. Presentamos el caso de una niña de 6 años con síndrome de Down derivada a nuestro centro para estudio por cuadro de debilidad muscular generalizada de evolución crónica con falta de adquisición de la marcha. Realizamos una revisión bibliográfica enfocándonos en el compromiso neurológico esperable en el síndrome de Down, la evolución de los hitos del desarrollo motor grueso estipulado para este grupo de pacientes y en los hallazgos que deben sugerir la presencia de una enfermedad neuromuscular.


A case of a 6-year-old girl with Down's syndrome is presented. She was referred to our center due to a history of generalized muscle weakness of chronic evolution, associated to her inability to walk. Her mother claimed that the girl's muscle weakness always called her attention as well as the difficulties to the development of motor skills shown by her daughter compared to other children, whether they were healthy or with Down's syndrome. There was information in her medical record and physical exam that strongly suggested the possibility of suffering a neuromuscular disorder. We asked for a molecular study that confirmed the spinal muscular atrophy diagnosis. We carried out a bibliographical revision focusing on the expected neurological impairment in Down's syndrome, the retardation of the gross motor skills development determined for this kind of patients and on the findings that must suggest a neuromuscular disorder.


Subject(s)
Humans , Female , Child , Muscular Atrophy, Spinal/diagnosis , Muscular Atrophy, Spinal/etiology , Down Syndrome/complications , Down Syndrome/diagnosis , Muscle Weakness , Delayed Diagnosis , Motor Skills
20.
Rev. chil. obstet. ginecol. (En línea) ; 87(4): 266-272, ago. 2022. tab
Article in Spanish | LILACS | ID: biblio-1407852

ABSTRACT

Resumen Objetivo: Describir y analizar los hallazgos ecográficos en 97 fetos portadores de síndrome de Down (SD) confirmado. Método: Se incluyeron todas las gestantes con diagnóstico prenatal de SD de nuestro centro, realizado por cariograma o reacción en cadena de la polimerasa cuantitativa fluorescente para aneuploidía. Se analizaron los informes genéticos y ecográficos, y se realizó un seguimiento posnatal. Resultados: De los 97 casos de SD, el 73% de los diagnósticos fueron entre las 11 y 14 semanas. El promedio de edad de las madres fue de 35,7 años. El 83% de los fetos con SD, evaluados a las 11-14 semanas, tuvieron una translucencia nucal ≥ 3,5 mm. Del total de los casos analizados, el 33% fueron portadores de una cardiopatía congénita, correspondiendo el 58% de estas a defectos mayores, principalmente anomalías del tabique auriculoventricular. Un 7,6% de los casos terminaron como mortinato, principalmente durante el tercer trimestre. Conclusiones: El ultrasonido es una herramienta muy sensible para la sospecha prenatal de SD y la detección de sus anomalías asociadas. Consideramos que la información aportada será útil para programar estrategias de pesquisa, organizar el control perinatal y precisar el consejo a los padres de fetos portadores de esta condición.


Abstract Objective: To describe and analyze the ultrasound findings in 97 fetuses with confirmed Down syndrome (DS). Method: All pregnant women with prenatal diagnosis of DS in our center, performed by karyotype or quantitative fluorescent polymerase chain reaction for aneuploidy, were included. Genetic and ultrasound reports were analyzed, as well as postnatal follow-up. Results: Of the 97 cases of DS, 73% of the diagnoses were between 11-14 weeks. The average age of the mothers was 35.7 years. 83% of our fetuses with DS, evaluated between 11-14 weeks, had a nuchal translucency ≥ 3.5 mm. Of the total of the fetuses analyzed, 33% were carriers of congenital heart disease, 58% of these correspond to a major defect, mainly anomalies of the atrioventricular septum. 7.6% of cases ended as stillbirth, mainly during the third trimester. Conclusions: Ultrasound is a very sensitive tool for prenatal suspicion of DS and the detection of its associated abnormalities. We believe that the information provided will be useful to program screening strategies, organize perinatal control and to counselling parents of fetuses carrying this condition.


Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Ultrasonography, Prenatal/methods , Down Syndrome/genetics , Down Syndrome/diagnostic imaging , Fetal Diseases/genetics , Fetal Diseases/diagnostic imaging , Phenotype , Cross-Sectional Studies , Retrospective Studies , Follow-Up Studies , Nuchal Translucency Measurement , Fetal Mortality , Fetus/abnormalities , Heart Defects, Congenital/diagnostic imaging
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