Executive functions & metabolic control in phenylketonuria (PKU) and mild hyperphenylalaninemia (mHPA).
Children
Dietary treatment
Executive functions
Metabolic control
Phenylketonuria
Journal
Molecular genetics and metabolism
ISSN: 1096-7206
Titre abrégé: Mol Genet Metab
Pays: United States
ID NLM: 9805456
Informations de publication
Date de publication:
20 Jul 2024
20 Jul 2024
Historique:
received:
28
05
2024
revised:
18
07
2024
accepted:
18
07
2024
medline:
27
7
2024
pubmed:
27
7
2024
entrez:
26
7
2024
Statut:
aheadofprint
Résumé
Due to newborn screening and early treatment, patients with phenylketonuria (PKU) and mild hyperphenylalaninemia (mHPA) develop largely normal, in terms of IQ testing and academic attainment. However, the impact of metabolic control in various stages of development on more complex cognitive abilities, i.e. executive functions (EF), is still unclear. EFs were tested in 28 patients with PKU/mHPA, aged 8-17 years, identified by newborn screening and continuously treated. The relation to current (testing day & past 10 phenylalanine (Phe) values) and long-term metabolic control (age periods: childhood <6, 6-10, adolescence >10 years, lifetime Phe) was analyzed. EFs were in the lower normative range (IQR of T-values: 47.35-51.00). Patients reaction time was significantly slower than the population mean (divided attention/TAP: median 40, p < 0.01). Both, long-term and current metabolic control correlated with performance in EF tests: Higher current Phe impaired reaction times (Go/No-Go, r = -0.387; working memory, r = -0.425; p < 0.05) and performance in planning ability (ToL r = -0.465, p < 0.01). Higher long-term Phe values both in childhood and adolescence mainly affected attention (omissions/TAP r = -0.357 and - 0.490, respectively, both p < 0.05) as well as planning ability (ToL r = -0.422 and - 0.387, adolescence and lifetime, p < 0.05). Current and long-term metabolic control in PKU/mHPA, including the adolescent period, influence EFs, especially affecting reaction time and planning abilities. This should be taken into account in patient counselling.
Sections du résumé
BACKGROUND
BACKGROUND
Due to newborn screening and early treatment, patients with phenylketonuria (PKU) and mild hyperphenylalaninemia (mHPA) develop largely normal, in terms of IQ testing and academic attainment. However, the impact of metabolic control in various stages of development on more complex cognitive abilities, i.e. executive functions (EF), is still unclear.
METHODS
METHODS
EFs were tested in 28 patients with PKU/mHPA, aged 8-17 years, identified by newborn screening and continuously treated. The relation to current (testing day & past 10 phenylalanine (Phe) values) and long-term metabolic control (age periods: childhood <6, 6-10, adolescence >10 years, lifetime Phe) was analyzed.
RESULTS
RESULTS
EFs were in the lower normative range (IQR of T-values: 47.35-51.00). Patients reaction time was significantly slower than the population mean (divided attention/TAP: median 40, p < 0.01). Both, long-term and current metabolic control correlated with performance in EF tests: Higher current Phe impaired reaction times (Go/No-Go, r = -0.387; working memory, r = -0.425; p < 0.05) and performance in planning ability (ToL r = -0.465, p < 0.01). Higher long-term Phe values both in childhood and adolescence mainly affected attention (omissions/TAP r = -0.357 and - 0.490, respectively, both p < 0.05) as well as planning ability (ToL r = -0.422 and - 0.387, adolescence and lifetime, p < 0.05).
CONCLUSION
CONCLUSIONS
Current and long-term metabolic control in PKU/mHPA, including the adolescent period, influence EFs, especially affecting reaction time and planning abilities. This should be taken into account in patient counselling.
Identifiants
pubmed: 39059271
pii: S1096-7192(24)00428-1
doi: 10.1016/j.ymgme.2024.108544
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
108544Informations de copyright
Copyright © 2024. Published by Elsevier Inc.
Déclaration de conflit d'intérêts
Declaration of competing interest The authors declare no conflicts of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript; or in the decision to publish the results.