Executive function in early-treated phenylketonuria: profile and underlying mechanisms

SE Christ, SCJ Huijbregts, LMJ de Sonneville… - Molecular Genetics and …, 2010 - Elsevier
Despite early and continuous dietary intervention, individuals with early-treated
phenylketonuria (PKU) experience significant neurocognitive sequelae. An area of cognitive …

The role of the executive functions in school achievement at the end of Grade 1

S Monette, M Bigras, MC Guay - Journal of experimental child psychology, 2011 - Elsevier
The aim of this study was to determine the role of executive functions (EFs) in early school
achievement when a variety of potential confounding factors were controlled. Measures of …

Autism spectrum disorders and inborn errors of metabolism: an update

M Ghaziuddin, M Al-Owain - Pediatric Neurology, 2013 - Elsevier
Background Autism spectrum disorder is characterized by social communicative deficits with
restricted interests occurring in about 1% of the population. Although its exact cause is not …

Structure of executive functions in typically developing kindergarteners

S Monette, M Bigras, MA Lafrenière - Journal of experimental child …, 2015 - Elsevier
Whereas studies of the past 10 years have shown the executive functions (EFs) in adults to
be differentiated into at least three principal components (working memory, inhibition, and …

Neurocognitive evidence for revision of treatment targets and guidelines for phenylketonuria

R Jahja, SCJ Huijbregts, LMJ De Sonneville… - The Journal of …, 2014 - Elsevier
Objectives To compare the neurocognitive outcomes of patients with phenylketonuria (PKU)
to determine whether decreasing phenylalanine (Phe) levels to< 240 is preferable to the use …

ADHD, learning, and academic performance in phenylketonuria

KM Antshel - Molecular Genetics and Metabolism, 2010 - Elsevier
Despite having average intellectual abilities, academic difficulties are relatively common in
children and adolescents with PKU. These academic difficulties may be a function of …

Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis

CJ Fonnesbeck, ML McPheeters… - Journal of inherited …, 2013 - Springer
Though the control of blood phenylalanine (Phe) levels is essential for minimizing
impairment in individuals with phenylketonuria (PKU), the empirical basis for the selection of …

Large neutral amino acids (LNAAs) supplementation improves neuropsychological performances in adult patients with phenylketonuria

I Scala, MP Riccio, M Marino, C Bravaccio, G Parenti… - Nutrients, 2020 - mdpi.com
Phenylketonuria is an inborn error of phenylalanine (Phe) metabolism diagnosed by
newborn screening and treated early with diet. Although diet prevents intellectual disability …

Dietary habits and metabolic control in adolescents and young adults with phenylketonuria: self-imposed protein restriction may be harmful

AM Das, K Goedecke, U Meyer, N Kanzelmeyer… - JIMD Reports-Case and …, 2014 - Springer
Background: In untreated patients, phenylketonuria (PKU) results in severe encephalopathy
with mental retardation. A protein-restricted diet is recommended which can be relaxed in …

[HTML][HTML] Quality of life and the associated psychological factors in caregivers of children with PKU

J Mahmoudi-Gharaei, S Mostafavi… - Iranian journal of …, 2011 - ncbi.nlm.nih.gov
Objectives The main objective of this study was to investigate the association of
psychological factors and life stressors with quality of life in caregivers of children with PKU …