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Therapy compliance in children with phenylketonuria younger than 5 years: A cohort study
Dariusz Walkowiak1, Anna Bukowska-Posadzy2,3, Łukasz Kałużny2
1Department of Organization and Management in Health Care, Poznan University of Medical Sciences, Poland.
Insights
Phenylketonuria (PKU) therapy is effective in infancy, with good patient compliance. However, both therapy effectiveness and compliance decline in later childhood years, irrespective of family background.
Area of Science:
- Metabolic disorders
- Genetics and genomics
- Pediatric medicine
Background:
- Phenylketonuria (PKU) is an inherited metabolic disorder.
- PKU impairs phenylalanine (Phe) metabolism, leading to neurotoxicity if untreated.
- A low-Phe diet is the cornerstone of PKU management.
Purpose of the Study:
- To evaluate the efficacy of classical PKU treatment.
- To assess patient adherence to medical advice during the first five years of life.
Main Methods:
- Analysis of data from 57 PKU patients (born 1999-2010).
- Evaluation of phenylalanine blood levels, clinic visit frequency, and blood test numbers.
- Assessment of socioeconomic status and parental education's impact.
Main Results:
- Higher frequency of doctor visits and blood tests in the first year of life compared to subsequent years.
- Infants had significantly lower odds of exceeding Phe level thresholds.
- Phe levels correlated with specialist visits and dietary control tests.
- Therapy effectiveness and compliance were independent of parental education and SES.
Conclusions:
- PKU therapy effectiveness and patient compliance are high in infancy.
- A decline in both therapy effectiveness and compliance is observed in later childhood.
- Family background does not appear to influence PKU management outcomes.
Background:
Phenylketonuria (PKU) is a metabolic disease. It is manifested by a complete or partial inability to convert phenylalanine (Phe) to tyrosine and leads to increased concentrations of Phe in the blood and in other tissues, including the brain, causing irreversible neurological damage if left untreated. Low-phenylalanine diet is a key component of classical PKU therapy.
Objectives:
The objective of this study was to assess the effectiveness of classical phenylketonuria therapy and compliance with doctors' recommendations in the first 5 years of life.
Material And Methods:
Data was collected from all diagnosed and treated patients (n = 57) born 1999-2010. Phenylalanine blood levels, the number of visits to a specialist outpatients' center, the number of blood tests, as well as socioeconomic status (SES) and parents' education level have been analyzed, and potential relationships have been assessed.
Results:
In the 1st year of life patients visited their doctors (odds ratio (OR) = 6.8267; 95% confidence interval (95% CI) = 2.827-16.5163; p < 0.0001) and had their blood collected (OR = 2.7875; 95% CI = 1.0467-7.4234; p < 0.0402) significantly more frequently than in the 2nd year. This tendency persisted into subsequent years. Similarly, in infancy they had statistically significantly lower odds of exceeding more than 40% of their Phe levels over therapeutic range than 1 year later (OR = 3.6078; 95% CI = 1.4859-8.7599; p < 0.0046). No PKU child had more than 70% of Phe levels over the therapeutic range in the 1st year of life, whereas 4 years later there were 18 such children. Phe levels were correlated with the number of visits to a specialist (ρ = 0.39) and the number of Phe blood tests with index of dietary control (ρ = -0.33). The effectiveness of therapy and compliance with the doctor's recommendations seem to depend neither on the level of education of the patient's parents nor on their SES.
Conclusions:
Therapy effectiveness and patients' compliance in PKU is very good in infancy. However, both deteriorate in subsequent years. Moreover, they do not seem to depend on the family background.
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