Prevalence of sleep disorders in early-treated phenylketonuric children and adolescents. Correlation with dopamine and serotonin status.

Phenylketonuric (PKU) patients are a population at risk for sleep disorders due to deficits in neurotransmitter synthesis. We aimed to study the prevalence of sleep disorders in early-treated PKU children and adolescents and assessed correlations with dopamine and serotonin status. We compared 32 PKU patients (16 females, 16 males; mean age 12 years), with a healthy control group of 32 subjects (16 females, 16 males; mean age 11.

White matter microstructural damage in early treated phenylketonuric patients.

Background: Despite dietary intervention, individuals with early treated phenylketonuria (ETPKU) could present neurocognitive deficits and white matter (WM) abnormalities. The aim of the present study was to evaluate the microstructural integrity of WM pathways across the whole brain in a cohort of paediatric ETPKU patients compared with healthy controls (HCs), by collecting DTI-MRI (diffusion tensor magnetic resonance imaging) data and diffusion values (mean diffusivity (MD), radial diffusivity (RD) and fractional anisotropy (FA)).

Methods: DTI-MRI data and diffusion values (MD, RD, FA) from WM tracts across the whole brain were analized using Tract Based Spatial Statistics (TBSS), in 15 paediatrics TPKU patients (median age: 12 years) and compared with 11 HCs.

Impaired Neurotransmission in Early-treated Phenylketonuria Patients.

Cerebral neurotransmitter (NT) deficiency has been suggested as a contributing factor in the pathophysiology of brain dysfunction in phenylketonuria (PKU), even in early-treated phenylketonuric patients. The study aimed to review dopamine and serotonin status in PKU, and the effect of the impaired neurotransmission. Several mechanisms are involved in the pathophysiology of PKU, primarily characterized by impaired dopamine and serotonin synthesis.

Executive functioning in context: Relevance for treatment and monitoring of phenylketonuria.

This paper presents findings from studies of EF in individuals with early-treated PKU within the context of recent advances in neuropsychological theory and research. It focuses on means of assessment, contexts of assessment, and the best way to define and investigate EF. Several conclusions can be drawn based on the findings presented here.

[Neurological, neuropsychological, and ophthalmological evolution after one year of docosahexaenoic acid supplementation in phenylketonuric patients].

INTRODUCTION. Phenylketonuria (PKU) is an autosomal recessive metabolic disease caused by a deficiency of phenylalanine hydroxylase. The dietary therapy for the effective management of PKU, in particular the restriction of high-protein foods of animal-origin, compromises patients' intake of fat and distorts the n-3:n-6 ratio of essential fatty acids in the diet.

Neurological complications and behavioral problems in patients with phenylketonuria in a follow-up unit.

Objective: To investigate the relationship between neurological complications, neuroradiological findings, and behavioral problems, age at diagnosis and dietary control along the follow-up of the PKU patients in our metabolic unit.

Design: Retrospective study of the PKU patients diagnosed and controlled in our unit from 1985 to 2010.

Methods: Registry of patients in a database with 50 items filled in by review of the clinical histories.

Neurocognitive function in mild hyperphenylalaninemia.

Aim: The purpose of this review was to provide an update on cognitive function in individuals with mild hyperphenylalaninemia (mHPA), the most clinically and biochemically benign form of phenylketonuria.

Method: A review was conducted of the existing literature on mHPA. Individuals with mHPA, whose plasma phenylalanine concentration had always remained lower than 360 μmol/L without dietary restriction, were considered.

Quality of dietary control in phenylketonuric patients and its relationship with general intelligence.

Objectives: Assessment of the quality of dietary treatment of phenylketonuria (PKU) patients and investigation of its relationship with the general intelligence of the patients.

Methods: Cross-sectional and longitudinal study of 105 PKU treated patients. The index of dietary control (IDC) was calculated as the phenylalanine (Phe) data reduction in half-year medians and the mean of all medians throughout the patient's life.

Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin.

Cognitive functions were assessed in 9 patients with mild to moderate phenylketonuria (PKU) ranging from 6 to 18 years of age, who were in long-term treatment (>5 years) with 5-9 mg/kg/day tetrahydrobiopterin (BH4) on compassionate use, provided by Schircks Inc. An extensive study of cognitive functions (intelligence quotient (IQ), visuospatial, visual memory, fine motor, executive and attentional functions) was conducted, and behavior was assessed using the ADHD Rating Scale and the Behavior Rating Inventory of Executive Function (BRIEF). All patients had normal IQ (M=107, SD=10).

Cognitive functions and the antioxidant system in phenylketonuric patients.

The authors studied the relationship between the antioxidant system and cognitive functions in a group of 36 early and continuously treated phenylketonuric (PKU) patients (mean age=9.7 years) and 29 controls. The authors measured antioxidant cofactors and free radical damage markers in plasma (selenium, retinol, tocopherol, coenzyme Q10, malondialdehide) and antioxidant enzymes in red blood cells (glutathione peroxidase, catalase, superoxide dismutase).

School performance in early and continuously treated phenylketonuria.

This study investigated the relationship between school performance, cognitive functions, and dietary control in a group of 26 early and continuously treated phenylketonuric patients, in comparison with 21 sex- and age-matched control subjects. The cognitive functions study included intelligence measurement, visual and auditory memory and auditory verbal learning abilities, attention, visuospatial, fine motor, language, and executive functions. Participants were asked about school performance.

Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy.

The clinical, nutritional, and neuropsychological data of 11 mild/moderate PKU patients after one year of treatment with BH4 are evaluated. BH4 monotherapy was introduced at 5 mg/kg/day in 14 PKU patients. In 11/14 patients, Phe tolerance increased significantly from 356+/-172 to 1546+/-192 mg/day (p=0.

Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population.

A study of 37 individuals with phenylketonuria (PKU; 17 females and 20 males, mean age 9y 9mo (standard deviation [SD] 5y 3mo), range 2y 8mo to 19y 4mo; and 35 individuals with hyperphenylalaninaemia (HPA; 20 females, 15 males, mean age 7y 10mo [SD 3y 2mo], range 2y 8mo to 17y 3mo) compared with 29 healthy controls (14 females and 15 males, mean age 9y 8mo [SD 4y 9mo], range 2y 6mo to 18y 10mo) was performed. The aim was to assess cognitive function in persons with HPA and to investigate the relation between cognitive function in PKU and the metabolic control of patients. A wide variety of neuropsychological tests was employed.

Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine-restricted diet?

Aim: To evaluate the possible influence of dietary treatment on the quality of life of adult patients with PKU (phenylketonuria) following late introduction or resumption of a Phe-restricted diet.

Methods: Fifteen adult patients with classical PKU (10F, 5M; mean age: 27.5 y, range: 16.

Acute necrotizing encephalopathy of childhood (infantile bilateral thalamic necrosis): two non-Japanese cases.

This report describes two Spanish cases of acute necrotizing encephalopathy of childhood, a rare disease first described in Japan by Mizuguchi and colleagues. Similar cases have been reported from Taiwan and other countries of the Far East. Two cases have been reported from the UK and one from the USA.

[Late onset of pseudobulbar paralysis and dystonia in a case of hemispheric cortical dysplasia].

The atypical clinical course of a young male with encephalopathy due to right hemispheric cortical dysplasia (pachygiria) is described. From the first months of life the course of the disease was a static encephalopathy with left hemiparesis, epilepsy and mild mental retardation. When he was 14 years old a subacute pseudobulbar palsy, dystonia and spread of the paresis to the right side occurred.

[Neurological development of very low birth weight infants (<1,501 gr) at two ears of age].

The aim of this study is to analyse different aspects of the psychomotor development, during the first two years of the life, of 56 very low birth weight newborns (less of 1.501 g) that had completed a follow-up program. Of the results we have got, the most important are the following: 4 observations (7%) presented severe sequelae motor disability in a tetraparesis with sensorial defects in 3 of them and behavior disturbance (psychosis) with visual defect in the rest.

[Infantile spasms in children with Down's syndrome].

Two hundred eighty six infants with Down syndrome have been studied. Infantile spasms have been identified in nine of them, in which background, EEG pattern and its evolution, modalities of treatment and its effects, neuroimaging and development course have been revised. None of these patients had either familiar or personal pathological antecedents.