Discapacidad
Introducción y desarrollo. El síndrome de Williams es un trastorno del desarrollo que ocurre en 1 de cada 7.500 recién nacidos. Se caracteriza por rasgos faciales típicos, retraso mental leve o moderado y asimétrico, con déficit notables en algunas áreas (psicomotricidad, integración visuoespacial) y relativa preservación de otras (lenguaje, musicalidad), personalidad amigable, hipercalcemia ocasional en […]
…El síndrome de Williams es un trastorno causado por una delección en el cromosoma 7, con un perfil cognitivo caracterizado por un retraso mental, dificultad grave en tareas visoespaciales, que contrasta con un desarrollo relativo de la capacidad lingüística y producción narrativa. En este estudio se analizó la ejecución verbal narrativa de dos grupos de […]
…Segunda Jornada dedicada al Síndrome de Williams, concretamente a la relación entre sexualidad y discapacidad que se realizará en Argentina el día 8 de mayo del 2000 en el Auditorio del Circulo Medico de Vicente Lopez.
…The long diagnostic delay is a characteristic problem of rare disease patients.Diagnostic delay was studied in 14 countries by EurordisCare2 involving patient organizations.252 Hungarian patients (cystic fibrosis; Duchenne muscular dystrophy; tuberous sclerosis, retinitis pigmentosa, and Williams’ syndrome) completed the questionnaires.The median delay was longer in Hungary than in Europe (cystic fibrosis: 227 vs. 45 days; […]
…Low stature is the main reason of consultation in paediatric endocrinology. In a high percentage of cases, its etiology is clear and fundamentally answers to variants of normality. However, in approximately 20% of cases low stature is pathological and requires exhaustive studies. The association of rare diseases (RD) with low height is very frequent. In […]
…Although individuals with disabilities are at increased risk of victimization, few studies examine persons with different disability conditions to determine whether distinctive cognitive-behavioral profiles are associated with different levels of social vulnerability. To determine the differences in social vulnerability and experiences of victimization, caregiver responses to a Social Vulnerability Questionnaire were examined for 103 caregivers […]
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