Mild hyperphenylalaninemia: to treat or not to treat

Spronsen, Francjan J. van

doi:10.1007/s10545-011-9283-y

Cited by 33 publications

(23 citation statements)

References 52 publications

(80 reference statements)

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“…In addition, despite our intentions to orient participants towards collective interests, an individualist mindset prevailed. Finally, the impact of over‐diagnosis and other complex screening biases is not well understood in the context of NBS so were not considered in this study.…”

Section: Limitationsmentioning

confidence: 99%

Expectations and values about expanded newborn screening: a public engagement study

Hayeems

Miller

Bombard

et al. 2013

Health Expectations

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Objectives Newborn bloodspot screening (NBS) panels have expanded to include conditions for which treatment effects are less certain, creating debate about population-based screening criteria. We investigated Canadian public expectations and values regarding the types of conditions that should be included in NBS and whether parents should provide consent.Methods Eight focus groups (FG; n = 60) included education, deliberative discussion and pre-/post-questionnaires. Data were analysed quantitatively and qualitatively.Results Quantitatively, the majority supported NBS for serious disorders for which treatment is not available (95-98, 82%). A majority endorsed screening without explicit consent (77-88%) for treatable disorders, but 62% supported unpressured choice for screening for untreatable disorders. Qualitatively, participants valued treatment-related benefits for infants and informational benefits for families. Concern for anxiety, stigma and unwanted knowledge depended upon disease context and strength of countervailing benefits.Conclusions Anticipated benefits of expanded infant screening were prioritized over harms, with information provision perceived as a mechanism for mitigating harms and enabling ª

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Section: Limitationsmentioning

confidence: 99%

Expectations and values about expanded newborn screening: a public engagement study

Hayeems

Miller

Bombard

et al. 2013

Health Expectations

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“…For example, the safe target value for serum phenylalanine has been lowered since the 1960s, driving an increase in the proportion of hyperphenylalaninemia patients requiring ongoing follow up. 31,32 Treatment of MHP through a phenylalanine-free diet and monitoring may prevent intellectual disability but also carries lifelong social and physical costs. 33 Medication-based approaches (sapropterin dihydrochloride) may cost families up to US$129,800 per annum in this population.…”

Section: Discussionmentioning

confidence: 99%

Health-care providers’ perspectives on uncertainty generated by variant forms of newborn screening targets

Upshur

Luca

et al. 2020

Genetics in Medicine

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Purpose: Despite the public health successes of newborn bloodspot screening, uncertainty associated with variant forms of primary screening targets has led to discrepancies in medical management. This study explored health-care providers' approaches to managing atypical forms of inherited metabolic diseases (IMDs) in the absence of evidence-based guidelines.Methods: Semistructured telephone interviews were conducted with metabolic specialists. 3-Methylcrotonyl CoA deficiency and variant forms of phenylketonuria, biotinidase deficiency, and fatty acid oxidation disorders were considered. Data were analyzed inductively and deductively using a novel taxonomy of uncertainty.Results: Health-care providers (n = 12) navigate diagnostic, prognostic, and therapeutic challenges of uncertainty while interpreting patient and family attitudes, preferences, and ideas in the care of children with these result types. Participants explained the limits of classifying mild and atypical metabolic phenotypes.Participants also described the challenge of finding balance between cautious care and overmedicalization. Developing consistent care plans and honest communication with families were perceived as effective strategies when navigating uncertainty.Conclusion: Providers' experiences suggest a need for transparent and accessible guidelines that account for challenges associated with uncertainty generated by screening. Timely consideration of this challenge is warranted with increasing emergence of genotype-first approaches to screening.Genetics in Medicine (2020) 22:566-573; https://doi.

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“…Despite phenylalanine levels of 200-600 µmol/L (two to six times the normal range) this variant has, in several studies, shown to be benign (Smith et al, 2000;Weglage et al, 2001). However, this premise has recently come under question (van Spronsen, 2011). The prevalence in Taiwan is 52% (Niu et al, 2010), double that of most jurisdictions.…”

Section: Non-pku Mild Hyperphenylalaninemia (Mhp)mentioning

confidence: 99%