Estudio clinico terapéutico de la demencia en las personas con síndrome de down y eficacia del donepecilo en esta población / Clinical-therapeutic study of dementia in people with down syndrome and the effectiveness of donepezil in this population

Introducción. Las personas con síndrome de Down envejecen precozmente, sobre todo a partir de los 40 años, mientras un porcentaje significativo inicia, a partir de esta edad, un deterioro progresivo de sus capacidades cognitivas y funcionales previas, secundario todo ello a un proceso degenerativo primario de tipo enfermedad de Alzheimer. Estudios clínicos piloto en esta población, en los que se ha valorado la repuesta al tratamiento con donepecilo, han demostrado beneficios terapéuticos. Objetivo. Evaluar la eficacia y seguridad del tratamiento farmacológico con donepecilo sobre los trastornos cognitivos y conductuales en población con síndrome de Down mayor de 40 años, en la que la familia y educadores de referencia han observado cambios cognitivos y conductuales respecto a su nivel previo de discapacidad. Pacientes y métodos. Los pacientes han sido seleccionados a través de diferentes instituciones filiadas por la Fundació Catalana de Síndrome de Down y por la Federación Catalana Pro Personas con Disminución Psíquica. Se han utilizado escalas de valoración de deterioro, conducta y funcionalismo adaptadas a esta población. Resultados. Los resultados del estudio han demostrado que el donepecilo ralentiza la progresión de la disfunción cognitiva, especialmente durante los primeros tres meses de tratamiento. Esto sucede tanto en las escalas cognitivas como sociales. Conclusiones. El donepecilo parece ser efectivo en el tratamiento de los trastornos cognitivos y de la conducta en la demencia progresiva del síndrome de Down. Todas las muestras publicadas en diferentes estudios han sido pequeñas, lo que hace necesario poner en marcha estudios multicéntricos para validar la respuesta de estos sujetos a la terapia anticolinesterásica (AU)

Introduction. People with Down syndrome have an early aging process, especially form their 40s. There is a significant average of them who initiate, from that age on, a progressive decline of their cognitive and functional abilities, due to a primary degenerative process Alzheimer’s disease type. When assessing response to treatment with, pilot clinical trials on this population have demonstrated real benefits therapeutically. Aims. To assess the efficacy and safety of a pharmacological treatment with donepezil over cognitive and behavioral disturbances on patients with Down syndrome older than 40 years, areas where family and professional educators of reference have observed cognitive and behavioral changes in comparison with their previous level of disability. Patients and methods. Patients have been selected from different institutions affiliated at the Catalan Foundation for the Down syndrome and by the Catalan Federation Pro Persons with Psychic Disability. Several deterioration, behavioral and functional assessment scales have been used, all of them validated into this population. Results. The results of study demonstrated that donepezil slowed the progression of the cognitive dysfunction, especially during the first three months of treatment. This occurred for both cognitive and social-behavioral outcomes. Conclusions. Donepezil appears to be effective in the treatment of cognitive and behavioural disturbances associated with the progressive dementia syndrome in Down’s. However, the sample sizes used in this, and all published studies are small and this emphasizes the need for a larger, multi-center trial to fully evaluate the nature and extent of the response of Down's syndrome patients to anticolinesterase therapy (AU)

[Clinical-therapeutic study of dementia in people with Down syndrome and the effectiveness of donepezil in this population]. / Estudio clinicoterapéutico de la demencia en las personas con síndrome de Down y eficacia del donepecilo en esta población.

INTRODUCTION: People with Down syndrome have an early aging process, especially form their 40s. There is a significant average of them who initiate, from that age on, a progressive decline of their cognitive and functional abilities, due to a primary degenerative process Alzheimer's disease type. When assessing response to treatment with, pilot clinical trials on this population have demonstrated real benefits therapeutically. AIMS: To assess the efficacy and safety of a pharmacological treatment with donepezil over cognitive and behavioral disturbances on patients with Down syndrome older than 40 years, areas where family and professional educators of reference have observed cognitive and behavioral changes in comparison with their previous level of disability. PATIENTS AND METHODS: Patients have been selected from different institutions affiliated at the Catalan Foundation for the Down syndrome and by the Catalan Federation Pro Persons with Psychic Disability. Several deterioration, behavioral and functional assessment scales have been used, all of them validated into this population. RESULTS: The results of study demonstrated that donepezil slowed the progression of the cognitive dysfunction, especially during the first three months of treatment. This occurred for both cognitive and social-behavioral outcomes. CONCLUSIONS: Donepezil appears to be effective in the treatment of cognitive and behavioural disturbances associated with the progressive dementia syndrome in Down's. However, the sample sizes used in this, and all published studies are small and this emphasizes the need for a larger, multi-center trial to fully evaluate the nature and extent of the response of Down's syndrome patients to anticolinesterase therapy.

[Eye conditions as features of Down's syndrome in patients over 40 years of age]. / Trastornos oculares propios del síndrome de Down en mayores de 40 años.

AIMS: The purpose of this study was to determine the refractive status and ocular health of a group of patients with Down's syndrome, all over the age of 40, with possible involvement of Alzheimer's disease (AD). We also aimed to compare the results obtained from sufferers and non-sufferers of the disease. PATIENTS AND METHODS: We examined 49 patients, between 40 and 62 years of age. The visual examination consisted in visual acuity (VA) measurement, binocularity test, ocular motility, retinoscopy, ocular health and subjective examination. RESULTS: Of the 49 patients studied, 24.5% were diagnosed as suffering from AD and were treated accordingly; 4% of the patients diagnosed as suffering from the disease were unable to go on with the treatment for a number of different reasons and 8.2% were at the limit of being diagnosed. 68.7% of the patients presented VA in long distance sight below 0.5 and 48% had values below 0.4 in near sight. Results showed 61.4% myopias, 45.8% astigmatisms and 23% hyperopias. 31.2% of the patients showed signs of needing prescription regarding near sight. 66.7% presented strabismus and altered motility. The main pathologies found were: 59.4% of crystalline opacities, 25% nystagmus, 13.5% interventions due to cataracts, and 6.2% keratoconus, among others. CONCLUSIONS: Diagnosis of AD is a very complex task in this population due to the heterogeneity of the level of retardation, the presence of concomitant psychiatric diseases and associated sensory problems. Findings confirm the high incidence among this population of ametropias and pathologies, especially cataracts, and VA values outside the functional limits both in far and near sightedness. No significant differences were found among patients who had been diagnosed and those who had not been diagnosed as suffering from AD.