Outcomes beyond phenylalanine: an international perspective.
ABSTRACT Control of blood phenylalanine (Phe) levels throughout the life of a person diagnosed with phenylketonuria (PKU) is the biochemical management strategy necessary to provide the best potential for optimal outcome. Psychosocial support mechanisms comprise the other aspects of PKU management that are necessary to overcome the hurdles of living with this chronic disease and to adhere to the rigors of its management. Additional psychosocial support may be required, in light of increasing evidence that control of blood Phe levels in PKU can still lead to subtle but measurable cognitive function deficits as well as a predisposition to certain psychiatric symptoms and disorders. An all encompassing PKU management strategy that goes beyond simply treating blood Phe levels can empower and enable people born with PKU to achieve similar life goals as those born without PKU. This review looks at PKU management strategies that go beyond treating Phe levels, specifically (1) the roles psychologists play in managing PKU from infancy through adulthood and how they help PKU families and caregivers deal with the disease and the burden of its management; (2) understanding the challenges of transitioning into adulthood as an individual with PKU and addressing unmet needs in this population; (3) how non-traditional practices can be utilized in PKU. The objective is to emphasize that management of PKU goes well beyond addressing the biochemical nature of this disease in order to achieve optimal patient outcomes.
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ABSTRACT: To investigate adherence to dietary treatment and quality of life (QoL) in patients with phenylketonuria (PKU). In the setting of a tertiary paediatric hospital, 41 early-treated patients affected by PKU aged more than 3 years old were enrolled in a cross-sectional study. Three-days dietary assessment, QoL questionnaires for patients<18 years old (Child Health Questionnaire) and Short Form for adults were completed. Of 41 patients, 23 (56.1%) were considered adherent to the dietary prescriptions as their phenylalanine intake was less than prescribed. Phenylalanine intake was significantly in excess of prescribed if mothers had a lower level of education. Adherence was not correlated with age. Metabolic control was obtained in 41.5-51.2% of the patients depending on the target. QoL was reduced in children and adolescents. There was no significant correlation between adherence and QoL, except for the domains of Global Health and Family Activities (ρ=0.42 and 0.46, respectively). The overall agreement between adherence and metabolic control varied according to different targets of metabolic control (51.2-65.9%). It is necessary to improve the adherence to diet and the QoL in children and adolescents affected by PKU.Acta Paediatrica 02/2011; 100(8):1144-9. · 1.97 Impact Factor
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ABSTRACT: Objective: Phenylketonuria (PKU) is a hereditary metabolic disorder that often results in neuropsychological impairment, even in individuals treated early and continuously. This study was conducted to examine processing speed, variability in processing speed, and the relationship between processing speed variables and executive abilities in children with early and continuously treated PKU. Method: Participants were 42 children with PKU and 81 typically developing children from 7 to 18 years of age. Children completed 3 computerized reaction time (RT) tasks (simple RT, go/no-go, stimulus-response compatibility) and 7 tasks assessing executive abilities (working memory, inhibitory control, strategic processing). Results: Performance of children with PKU was significantly slower and more variable than that of controls across the 3 tasks administered. When age was considered, it was shown that processing speed improved with age to a comparable degree for both groups. Variability in processing speed, however, decreased more with age for the PKU than control group, reflecting the fact that variability in younger, but not older, children with PKU was greater than that of controls. With regard to executive abilities, processing speed and variability contributed to performance on most, but not all, executive tasks; and after controlling for processing speed and variability, executive impairments were still identified in working memory and inhibitory control (not strategic processing). Conclusions: These findings indicate that information processing is slower and less efficient in children with PKU. In addition, processing speed and variability contribute to some, but not all, of the impairments in executive abilities observed in children with PKU. (PsycINFO Database Record (c) 2012 APA, all rights reserved).Neuropsychology 08/2012; · 3.58 Impact Factor
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ABSTRACT: Purpose:Sapropterin is an oral synthetic formulation of tetrahydrobiopterin prescribed as adjunctive therapy for phenylketonuria. The efficacy of sapropterin in reducing blood phenylalanine levels has been demonstrated in clinical studies of individuals with phenylketonuria older than 4 years of age. Its effect on neurocognitive functioning in younger children has not been examined.Methods:A 2-year interim analysis of blood phenylalanine levels, prescribed dietary phenylalanine intake, and neurocognitive functioning was performed in children who started receiving sapropterin at 0-6 years of age and responded with a ≥30% mean blood phenylalanine reduction. Children were evaluated at baseline and 2-year follow-up.Results:Sapropterin had a favorable safety profile and lowered blood phenylalanine levels with increased prescribed dietary phenylalanine intakes. Mean full-scale intelligence quotient was 103 ± 12 at baseline and 104 ± 10 at 2-year follow-up (P = 0.50, paired t-test, n = 25). For children younger than 30 months of age, the cognitive composite score from the Bayley Scales of Infant and Toddler Development, Third Edition, remained within the average range.Conclusion:Sapropterin had a favorable safety profile, was effective in lowering blood phenylalanine levels while clinically requiring dietary adjustment, resulting in increased phenylalanine intake, and preserved neurocognitive performance in children who started therapy between 0 and 6 years of age.Genet Med advance online publication 18 September 2014Genetics in Medicine (2014); doi:10.1038/gim.2014.109.Genetics in medicine: official journal of the American College of Medical Genetics 09/2014; · 3.92 Impact Factor