Aspectos neuropsicológicos em el Síndrome Treacher Collins: relato de um caso
Aspectos neuropsicológicos em crianças com STC
Resumo
En este estudio se discuten los datos obtenidos de la evaluación neuropsicológica de un niño de siete años con el síndrome de Treacher Collins (STC). Un trastorno autosómico con una incidencia de 1:50.000 nacimientos, caracterizado por malformaciones craneofaciales. El objetivo fue identificar, a partir de un estudio de caso único, las características cognitivas de un paciente con STC. El rendimiento intelectual (Gf - inteligencia fluida), los procesos cognitivos básicos (procesamiento visual y coordinación visuomotora), los procesos cognitivos superiores (lenguaje, atención, memoria y funciones ejecutivas) y el comportamiento del niño se evaluaron mediante pruebas formales, entrevista y observación clínica. Los resultados sugieren una capacidad intelectual general preservada, aunque asociada a déficit en el desarrollo motor y la función visual, con una disminución de la velocidad de procesamiento y del funcionamiento ejecutivo, como la planificación y el control atencional. Dada la rareza de este síndrome, consideramos que estos hallazgos pueden favorecer la identificación temprana de las características cognitivas del STC para perfilar una intervención adecuada y así optimizar el resultado de las intervenciones en el desarrollo neuropsicológico de los pacientes afectados, considerando sus particularidades cognitivas y relacionando los contenidos académicos y la conducta con la demanda de vida. Todavía, se subraya la importancia de la comparación de este estudio con otros pacientes con el citado síndrome para confirmar la generalidad de las alteraciones observadas.
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