Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples

We aimed to assess if the same cognitive batteries can be used cross-nationally to monitor the effect of Phenylketonuria (PKU). We assessed whether a battery, previously used with English adults with PKU (AwPKU), was also sensitive to impairments in Italian AwPKU. From our original battery, we selected a number of tasks that comprehensively assessed visual attention, visuo-motor coordination, executive functions (particularly, reasoning, planning, and monitoring), sustained attention, and verbal and visual memory and learning. When verbal stimuli/or responses were involved, stimuli were closely matched between the two languages for psycholinguistic variables. We administered the tasks to 19 Italian AwPKU and 19 Italian matched controls and compared results from with 19 English AwPKU and 19 English matched controls selected from a previously tested cohort. Participant election was blind to cognitive performance and metabolic control, but participants were closely matched for age and education. The Italian AwPKU group had slightly worse metabolic control but showed levels of performance and patterns of impairment similar to the English AwPKU group. The Italian results also showed extensive correlations between adult cognitive measures and metabolic measures across the life span, both in terms of Phenylalanine (Phe) levels and Phe fluctuations, replicating previous results in English. These results suggest that batteries with the same and/or matched tasks can be used to assess cognitive outcomes across countries allowing results to be compared and accrued. Future studies should explore potential differences in metabolic control across countries to understand what variables make metabolic control easier to achieve

Adult cognitive outcomes in phenylketonuria:explaining causes of variability beyond average Phe levels

OBJECTIVE: The objective was to deepen the understanding of the causes of individual variability in phenylketonuria (PKU) by investigating which metabolic variables are most important for predicting cognitive outcomes (Phe average vs Phe variation) and by assessing the risk of cognitive impairment associated with adopting a more relaxed approach to the diet than is currently recommended. METHOD: We analysed associations between metabolic and cognitive measures in a mixed sample of English and Italian early-treated adults with PKU (N = 56). Metabolic measures were collected through childhood, adolescence and adulthood; cognitive measures were collected in adulthood. Metabolic measures included average Phe levels (average of median values for each year in a given period) and average Phe variations (average yearly standard deviations). Cognition was measured with IQ and a battery of cognitive tasks. RESULTS: Phe variation was as important, if not more important, than Phe average in predicting adult outcomes and contributed independently. Phe variation was particularly detrimental in childhood. Together, childhood Phe variation and adult Phe average predicted around 40% of the variation in cognitive scores. Poor cognitive scores (> 1 SD from controls) occurred almost exclusively in individuals with poor metabolic control and the risk of poor scores was about 30% higher in individuals with Phe values exceeding recommended thresholds. CONCLUSIONS: Our results provide support for current European guidelines (average Phe value = < 360 μmol/l in childhood; = < 600 μmo/l from 12 years onwards), but they suggest an additional recommendation to maintain stable levels (possibly Phe SD = < 180 μmol/l throughout life). PUBLIC SIGNIFICANCE STATEMENTS: We investigated the relationship between how well people with phenylketonuria control blood Phe throughout their life and their ability to carry out cognitive tasks in adulthood. We found that avoiding blood Phe peaks was as important if not more important that maintaining average low Phe levels. This was particularly essential in childhood. We also found that blood Phe levels above recommended European guidelines was associated with around 30% increase in the risk of poor cognitive outcomes

Bases digitales para el estudio del lenguaje inclusivo a través de la prensa: El proyecto DISMUPREN.

El lenguaje inclusivo, expresión de las transformaciones políticas y sociales ocurridas en los últimos tiempos, ya posee cierto recorrido histórico, pues empieza a gestarse en España a finales de los 70, paralelo a la Constitución española y a los primeros trabajos de Lingüística con perspectiva de género en español. Para construir su historia estamos elaborando un corpus de textos periodísticos publicados en la prensa española dentro del proyecto I+D+i El discurso metalingüístico sobre “mujer y lenguaje” en la prensa española: Análisis del debate lingüístico y su repercusión social (DISMUPREN). Este corpus es una herramienta digital de acceso abierto que nos permite estudiar cómo cambia la lengua y cómo se construye y transforma el discurso sobre ella según avanzan las mujeres en la sociedad. En la ponencia mostramos el estado actual del corpus (con más de 6800 textos etiquetados), la bibliografía específica que estamos elaborando, los resultados publicados hasta el momento y las prácticas de innovación docente llevadas a cabo.Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech

Revista complutense de educación

Título, resumen y palabras clave en español e inglésLas dificultades para implementar prácticas orales en el aula con una evaluación rigurosa sitúan a la competencia oral en desventaja respecto a otras destrezas comunicativas en el sistema educativo. Se analiza este fenómeno en un contexto escolar concreto: el Centro de Educación Infantil y Primaria Nuestra Señora de Gracia (Málaga). El estudio se enmarca en el paradigma interpretativo a través de un enfoque metodológico cualitativo con la técnica del estudio de caso. Los procedimientos empleados para la recogida de datos son la observación no participante, entrevistas semiestructuradas y la revisión analítica de la documentación curricular del centro. Se evidencia la pertinencia de las metodologías y actividades para el desarrollo y la evaluación de la comunicación oral llevadas a cabo en el centro, como la asamblea, la radio o el teatro. También queda patente el compromiso educativo de esta escuela para compensar las desigualdades lingüísticas de origen de sus estudiantes. Entre las conclusiones más destacables se encuentra la positiva excepcionalidad del centro estudiado en el trabajo de la oralidad respecto al panorama global. Por otra parte, se constata la necesidad de una mayor formación inicial del profesorado en la didáctica de la competencia oral.ES