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      Living with Phenylketonuria: Lessons from the PKU community

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          Abstract

          Introduction

          We report the practical, social and psychological issues of living with phenylketonuria (PKU) from one of the largest surveys that has been completed by both adults with PKU and parents/caregivers of children.

          Methods

          In the UK, parents/caregivers of children and adults with PKU were invited to complete an online survey between November 2017 to January 2018 by the NSPKU (National Society for Phenylketonuria).

          Results

          631 participants (adults, n = 338; parents/caregivers of children, n = 293) with PKU completed the questionnaire. Problems experienced by children with PKU were: difficulty with maintaining focus (48%, n = 114/236), educational difficulties (28%, n = 67/236), anxiety or depression (29%, n = 68/236), and gastrointestinal symptoms (34%, n = 97/282). Fifty one per cent ( n = 120/236) described social exclusion; 17% ( n = 41/236) had relationship issues with friends or family. Problems experienced by adults were: depression or anxiety (52%, n = 148/286), difficulty maintaining focus (54%, n = 154/286), and low mood (54%, n = 180/334). Difficulties were experienced with relationships (34%, n = 96/286); social exclusion (44%, n = 126/286); and gastrointestinal issues ( n = 34%, n = 112/334). Common medications used included antidepressants (40%, n = 131/331) and anxiolytics (18%, n = 60/334).

          Discussions

          Adults with PKU or caregivers/parents of children identified significant neurocognitive, mental health and general health issues. Limits on socialisation, perception of social isolation and dietary stigma are major obstacles which are difficult to overcome with conventional dietary management.

          Highlights

          • •

            631 participants with PKU or caregivers completed a questionnaire

          • •

            Limits on socialisation, perception of social isolation and dietary stigma were major obstacles with conventional dietary management in PKU

          • •

            Only one in four patients with PKU received psychological support

          • •

            Ambivalent messages from health professionals about the need to follow life-long treatment affected adult commitment to adhere to treatment

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          Most cited references13

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          Adherence to clinic recommendations among patients with phenylketonuria in the United States.

          J Cohen-Pfeffer, M Sheinin, E Jurecki … (2017)
          Assess current management practices of phenylketonuria (PKU) clinics across the United States (US) based on the key treatment metrics of blood phenylalanine (Phe) concentrations and blood Phe testing frequency, as well as patient adherence to their clinic's management practice recommendations.
          Article 0 comments Cited 62 times – based on 0 reviews     Review now
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            How practical are recommendations for dietary control in phenylketonuria?

            A Vail, Graeme Macdonald, G Shortland … (2002)
            In patients with phenylketonuria, blood phenylalanine concentration during childhood is the major determinant of cognitive outcome. Guidelines provide age-related recommendations for treatment. To ascertain the extent to which these aims are achievable, we audited results from four centres for the years 1994-2000. The median proportion of samples with phenylalanine concentrations above those recommended was less than 30% for those younger than age 10 years but almost 80% for those aged 15 years and older. Similarly, the median frequency of blood sampling, expressed as a proportion of that recommended, was more than 80% for patients younger than 10 years but less than 50% by age 15 years. Our results indicate the difficulty of maintaining control in phenylketonuria, especially in older rather than younger children.
            Article 0 comments Cited 55 times – based on 0 reviews     Review now
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              Neuropsychiatric comorbidities in adults with phenylketonuria: A retrospective cohort study.

              Deborah A Bilder, Joyce Kobori, Jessica Cohen-Pfeffer … (2017)
              Adults with phenylketonuria (PKU) may experience neurologic and psychiatric disorders, including intellectual disability, anxiety, depression, and neurocognitive dysfunction. Identifying the prevalence and prevalence ratios of these conditions will inform clinical treatment. This nested, case-controlled study used International Classification of Diseases, Ninth Revision (ICD-9) codes from the MarketScan® insurance claims databases from 2006 to 2012 and healthcare claims data for US-based employer and government-sponsored health plans. Prevalence and prevalence ratio calculations of neuropsychiatric comorbidities for adults (≥20years old) with PKU were compared with two groups [diabetes mellitus (DM) and general population (GP)] matched by age, gender, geographic location, and insurance type. Age cohorts (i.e., 20-29, 30-39, 40-49, 50-59, 60-69, and 70+years, and a combined subset of 20-39) were used to stratify data. The PKU cohort experienced significantly higher rates of several comorbid neurologic, psychiatric and developmental conditions. Compared to GP, PKU was associated with significantly higher prevalence for numerous neuropsychiatric conditions, most notably for intellectual disability (PR=7.9, 95% CI: 6.4-9.9), autism spectrum disorder (PR=6.1, 95% CI: 3.6-10.4), Tourette/tic disorders (PR=5.4, 95% CI: 2.1-14.1), and eating disorders (4.0, 95% CI: 3.2-5.0). Rates of fatigue/malaise, epilepsy/convulsions, sleep disturbance, personality disorders, phobias, psychosis, and migraines among those with PKU exceeded rates for the GP but were comparable to those with DM, with significantly lower rates of concomitant disorders occurring in younger, compared to older, adults with PKU. Lifelong monitoring and treatment of co-occurring neuropsychiatric conditions are important for effective PKU management.
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                Author and article information

                Contributors
                Anita MacDonald
                Journal
                Journal ID (nlm-ta): Mol Genet Metab Rep
                Journal ID (iso-abbrev): Mol Genet Metab Rep
                Title: Molecular Genetics and Metabolism Reports
                Publisher: Elsevier
                ISSN (Electronic): 2214-4269
                Publication date PMC-release: 18 October 2018
                Publication date Collection: December 2018
                Publication date (Electronic): 18 October 2018
                Volume: 17
                Pages: 57-63
                Affiliations
                [a ]National Society for Phenylketonuria, Preston, United Kingdom
                [b ]Middlesex University, London, United Kingdom
                [c ]Birmingham Women's & Children's NHS Trust, Birmingham, United Kingdom
                Author notes
                [* ]Corresponding author at: Dietetic Department, Birmingham Women's and Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK. anita.macdonald@ 123456nhs.net
                Article
                Publisher ID: S2214-4269(18)30093-4
                DOI: 10.1016/j.ymgmr.2018.10.002
                PMC ID: 6198120
                PubMed ID: 30364670
                SO-VID: d5d2b5aa-5ed5-4273-907a-6b0cfb34178e
                Copyright © © 2018 The Authors
                License:

                This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

                History
                Date received : 13 August 2018
                Date revision received : 10 October 2018
                Date accepted : 10 October 2018
                Categories
                Subject: Research Paper

                Keywords: phenylketonuria,phenylalanine,diet,survey,questionnaire,thematic analysis
                Data availability:
                Keywords: phenylketonuria, phenylalanine, diet, survey, questionnaire, thematic analysis

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