RESUMO
INTRODUCTION: Intellectual disability (ID) is a neurodevelopmental disorder characterized by limitations in intellec tual and adaptive functioning, of various etiologies, including genetic causes. OBJECTIVE: to describe genetic studies carried out in a series of children and adolescents with ID of previously undetermined etiology, considering their phenotypic characteristics. PATIENTS AND METHOD: Descriptive study of a series of patients with ID aged 6 to 18 years. Clinical records, cognitive assessment results (Wechsler -TADI), and genetic study performed were reviewed. They were classified according to phenotypic characteristics into Group 1 patients without a specific phenotype, Group 2: patients with Angel- man- and Rett-like neurodevelopmental disorders phenotype, and Group 3: patients with difficult- to-control seizures. Group 1 was studied with CMA and Groups 2 and 3 with specific genetic panels. RESULTS: 18 patients were described, average age 11 years, male predominance, non-consanguineous parents, and with history of psychomotor retardation. Common comorbidities were epilepsy, autism spectrum disorder (ASD), and behavioral difficulties. Most had a neurological examination without focus and had TADI with very poor developmental ages. In Group 1, there was one patient with a 16p11.2 microdeletion and in Group 3 a duplication of the IQSEC2 gene was found in a patient with difficult-to-control seizures. CONCLUSIONS: The phenotypic characteristics allow to guide the choice of specific genetic studies in children and adolescents with ID of previously undetermined etiology to approach the etiological diagnosis.
Assuntos
Transtorno do Espectro Autista , Deficiência Intelectual , Adolescente , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/genética , Feminino , Testes Genéticos , Fatores de Troca do Nucleotídeo Guanina/genética , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/genética , Masculino , Fenótipo , Convulsões/genéticaRESUMO
RESUMEN Objetivo: Describir el proceso y modelos de envejecimiento, discapacidad, cuidado y centros día para atención de población adulta mayor. Metodología: Revisión narrativa de tema utilizando bases de datos como PubMed, información de la Organización Mundial de la Salud, guías de geriatría, revistas, artículos científicos y trabajos de grado acerca de los temas de vejez, aumento de la población y centros día. Resultados: El envejecimiento como proceso natural hace parte del ciclo de vida y comprende un amplio conjunto de procesos biológicos, psicológicos y sociales. Los centros día son una opción para no institucionalizar al adulto mayor dependiente, y en el adulto mayor sano, una opción de actividad, recreación y dignificación. Además, tienen objetivos dirigidos al cuidador. Actualmente el envejecimiento poblacional es una realidad mundial en la que los centros día pueden ser parte de la respuesta a la hora de cubrir las necesidades de cuidado, dignificación e integración de la población adulta mayor. Conclusión: Una opción para brindar cuidado integral de los adultos mayores son los centros día, los cuales son una alternativa intermedia entre conservar su ambiente habitual/ familiar y casos de institucionalización. El tema de los centros día para adultos mayores es un tópico que continúa en desarrollo, respecto a los cuales existen varias definiciones, formas de trabajo y procesos terapéuticos que se pueden llevar a cabo en estos. Es necesario conservar y fortalecer la salud y bienestar de los adultos mayores, y promover procesos de envejecimiento exitoso, saludable y/o activo.
ABSTRACT Objective: Describe the process and models of aging, disability, care and day-care centers for the elderly population. Methodology: A narrative review of the topic using databases such as PubMed, information from the World Health Organization, geriatric guides, journals, scientific articles, and graduate projects on the issues of old age, population growth, and daycare centers. Results: Aging as a natural process is part of the life cycle and includes a broad set of biological, psychological, and social processes. Daycare centers are an option not to institutionalize the dependent older adult, and, for the healthy older adult, an option for activity, recreation, and dignity. In addition, they have goals directed at the caregiver. Currently, population aging is a global reality where daycare centers can be part of the answer to meeting the needs of care, dignity, and integration of older adults. Conclusion: Care goes beyond medical care. One option to provide comprehensive care for older adults is daycare centers, which are an intermediate alternative between preserving their usual/family environment and cases of institutionalization. The topic of daycare centers for older adults is a topic that continues to develop. There are various definitions, ways of working, and therapeutic processes that can be carried out. It is necessary to preserve and strengthen the health and well-being of older adults, and to promote successful, healthy, and active aging processes.