Adherence to Treatment of Phenylketonuria

Vieira, Tatiane Alves; Nalin, Tatiéle; Krug, Bárbara; Bittar, Camila Matzenbacher; Netto, Cristina Brinckmann Oliveira; Schwartz, Ida Vanessa Döederlein

doi:10.1177/2326409815579861

Cited by 11 publications

(9 citation statements)

References 14 publications

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“…A progressive deterioration in metabolic control could be seen over time in all three groups, similar to previous reports, ( [13] , Ahring, Belanger-Quintana et al [1] , [17] ). By age 8–10 years the average mean Phe concentrations of the three groups was over the upper recommended level.…”

Section: Discussionsupporting

confidence: 91%

First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU

Parra

García

Hamilton

et al. 2017

Molecular Genetics and Metabolism Reports

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There is a consensus on the importance of early and life-long treatment for PKU patients. Still, differences exist on target blood phenylalanine (Phe) concentrations for children with PKU in different countries and treatment centers. For the first time, long-term metabolic control and child development and cognitive functioning is compared between children with mean phenylalanine concentrations under 240 μmol/L (group A), between 240 and 360 μmol/L (group B) or over 360 μmol/L (group C) during their first year of life. METHODS: 70 patients diagnosed with PKU through neonatal screening with Phe > 900 μmol/L, were divided into 3 groups: A, B and C, according to mean Phe concentrations and standard deviation (SD). Metabolic control during childhood, psychomotor development and IQ were compared. RESULTS: In group A, Phe was maintained within the recommended range until 6 years of age, in Group B, until 3 years of age, and in group C, Phe was always over the recommended range. No significant differences were found between the three groups in mental development index (MDI) and motor development index (PDI) scores at 12, 24, and 30 months of age, but group C had the lowest scores on MDI at all age periods. At preschool and school age, IQ was higher in group A compared to group C. CONCLUSION: Results show that mean blood Phe concentrations between 120 and 240 μmol/L during first year of life have a positive impact in metabolic control and cognitive functioning during childhood.

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Section: Discussionsupporting

confidence: 91%

First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU

Parra

García

Hamilton

et al. 2017

Molecular Genetics and Metabolism Reports

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“…The second group was considered to have poor adherence and showed blood Phe levels above treatment goals. This biomarker has been widely used to assess a patient's metabolic control (Canton et al, 2019), and it has been used to describe PKU adherence to treatment in previous studies (Cappelletti et al, 2013; Castro et al, 2012; Hartnett et al, 2013; Romani et al, 2017; Soleymani et al, 2015; Vieira et al, 2015; Vilaseca et al, 2010). In this analysis, in the comparison of the two groups, more classical PKU patients than mild PKU patients were considered to have poor adherence (Table 4).…”

Section: Resultsmentioning

confidence: 99%

Factors that increase risk for poor adherence to phenylketonuria treatment in Brazilian patients

Teruya

Remor

Schwartz

2021

American J of Med Genetics Pt A

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Neurotoxic effects caused by high phenylalanine (Phe) in patients with phenylketonuria (PKU) can be avoided through dietary treatment. However, achieving the recommended Phe levels has been a challenge. This study aimed to investigate factors associated with adherence to PKU treatment among patients followed at a medical genetics public service in southern Brazil. Twenty‐nine patients (early diagnosed, n = 20; late‐diagnosed, n = 9) with classical (n = 16) or mild PKU (n = 13) aged 6–34 years (16.4 ± 7.5) and 16 caregivers were included. Blood Phe levels were recorded, and assessment tools measuring barriers to treatment, IQ, knowledge about disease, treatment, and perceived adherence were collected. Classical PKU patients showed higher current blood Phe levels than mild PKU patients (U = 37.000, p = 0.003). Lifetime and childhood Phe levels were associated with recent metabolic control (τ = 0.76, p = 0.000; τ = 0.70, p = 0.000, respectively). The perception of barriers to treatment was associated with a higher blood Phe level (τ = 0.39, p = 0.003). Tolerance to Phe, metabolic control throughout childhood, and perceived difficulty in living with demands of treatment are important factors of greater vulnerability to poor adherence in PKU patients.

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“…Low palatability of medical food [14,36,39,40] High level of dietary restrictions [12] Patient-related factors Lack of ability to cope with food temptation [36,40,41] Fear of being treated differently by others, fear of stigma [15,36,38,40] Feeling ashamed to talk about diagnosis with others [41] Restriction on social life [35,36] Poor knowledge about the disease [15,39] Poor knowledge about the treatment [15] Lack of motivation to follow the treatment [15] Denial of condition [15] Lack of conviction that poor compliance will have adverse effects [15] Teruya et al…”

Section: Initial Development Of the Phenylketonuria Perceived Barrier...mentioning

confidence: 99%

“…According to the few studies carried out in Brazil, adherence rates already present unsatisfactory indexes during patients' childhood. One study found that 77.4% of patients under 13 years of age had blood phenylalanine levels above treatment goals [12]. In another survey of patients aged six to 18 years, the non-adherence rate was 68.6% [13].…”

Section: Introductionmentioning

confidence: 99%

Development of an inventory to assess perceived barriers related to PKU treatment

Teruya

Remor

Schwartz

2020

J Patient Rep Outcomes

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Background According to studies of phenylketonuria (PKU), the Brazilian population’s metabolic control shows unsatisfactory indexes from childhood. Research on patients’ perceived difficulties or barriers to adherence to treatment can help us to comprehend how these outcomes are associated. The present study aimed to: (1) describe the development of an inventory for identifying the most frequent and relevant perceived barriers to PKU treatment from the perspective of patients, caregivers, and healthcare professionals; (2) evaluate certain psychometric characteristics of the new measure; and, (3) explore potential predictors (sociodemographic and medical characteristics) that may contribute to increasing the number of perceived barriers and examine whether the number of barriers is associated with the degree of adherence shown by the patient. Results Participants in the study were 23 patients with PKU (M age = 18.0 years; SD = 7.3; range 6 to 34 years; 69% early-treated) in classical (n = 11) and mild (n = 12) form, and 11 caregivers. The inventory, developed to ascertain perceived barriers to treatment, was completed by patients (≥ 13 years) and caregivers of patients aged 6 to 17 years. Analyses were conducted to investigate whether barrier inventory scores were associated with adherence to treatment as measured by phenylalanine levels in patients’ medical records. Scores on the inventory differed across the patient age groups: adolescents had lower scores (i.e. reported fewer barriers) compared with those of adults (U = 8.000, p = 0.008); patients with better recent metabolic control also reported fewer perceived barriers than did patients with poor adherence (U = 20.000, p = 0.009); and the number of perceived barriers was positively associated with recent blood phenylalanine concentration (Kendall’s taub = 0.41; p = 0.001). Conclusions These results suggest that the inventory has merit in assessing perceived barriers and support the need for further research on barriers perceived by PKU patients.

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Adherence to Treatment of Phenylketonuria

Cited by 11 publications

References 14 publications

First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU

First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU

Factors that increase risk for poor adherence to phenylketonuria treatment in Brazilian patients

Development of an inventory to assess perceived barriers related to PKU treatment

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