Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples
Open Access
- 3 October 2020
- Vol. 12 (10), 3033
- https://doi.org/10.3390/nu12103033
Abstract
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.This publication has 54 references indexed in Scilit:
- Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochlorideHealth and Quality of Life Outcomes, 2013
- Standardization and normative data obtained in the Italian population for a new verbal fluency instrument, the phonemic/semantic alternate fluency testNeurological Sciences, 2013
- Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: A start toward standardized outcome measurement across developmentMolecular Genetics and Metabolism, 2011
- Beyond executive function: Non-executive cognitive abilities in individuals with PKUMolecular Genetics and Metabolism, 2010
- The Birth Prevalence of PKU in Populations of European, South Asian and Sub‐Saharan African Ancestry Living in South East EnglandAnnals of Human Genetics, 2007
- Executive Functioning, Memory, and Learning in Phenylketonuria.Neuropsychology, 2004
- Frontal lobe‐dependent functions in treated phenylketonuria: Blood phenylalanine concentrations and long‐term deficits in adolescents young adultsJournal of Inherited Metabolic Disease, 2003
- A test of the frontal‐specificity hypothesis in the cognitive performance of adults with phenylketonuriaDevelopmental Neuropsychology, 1996
- Sustained attention in adult phenylketonuria: The influence of the concurrent phenylalanine-blood-levelJournal of Clinical and Experimental Neuropsychology, 1994
- Early-treated phenylketonuria: Adult neuropsychologic outcomeThe Journal of Pediatrics, 1994