Living with Phenylketonuria: lessons from the PKU community

Article

Ford, S., O'Driscoll, M. and McDonald, A. 2018. Living with Phenylketonuria: lessons from the PKU community. Molecular Genetics and Metabolism Reports. 17, pp. 57-63. https://doi.org/10.1016/j.ymgmr.2018.10.002
TypeArticle
TitleLiving with Phenylketonuria: lessons from the PKU community
AuthorsFord, S., O'Driscoll, M. and McDonald, A.
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.

KeywordsPhenylketonuria; Phenylalanine; Diet; Survey ; Questionnaire; Thematic analysis
PublisherElsevier
JournalMolecular Genetics and Metabolism Reports
ISSN
Electronic2214-4269
Publication dates
Online18 Oct 2018
Print01 Dec 2018
Publication process dates
Submitted13 Aug 2018
Accepted10 Oct 2018
Deposited19 Oct 2018
Output statusPublished
Publisher's version
License
Digital Object Identifier (DOI)https://doi.org/10.1016/j.ymgmr.2018.10.002
PubMed ID30364670
PubMed Central IDPMC6198120
Web of Science identifierWOS:000450411200017
LanguageEnglish
Permalink -

https://repository.mdx.ac.uk/item/87zvq

Log in to edit

Download files

Publisher's version
Living with Phenylketonuria.pdf
License: CC BY-NC-ND 4.0

  • 153
    total views
  • 40
    total downloads
  • 6
    views this month
  • 0
    downloads this month

Export as

Related outputs

Using recontextualisation theory to understand learning across multiple sites in simulation‐based nurse education
Allan, H. and O'Driscoll, M. 2025. Using recontextualisation theory to understand learning across multiple sites in simulation‐based nurse education. Journal of Advanced Nursing. https://doi.org/10.1111/jan.70163
NCL Nursing and Midwifery systems leadership programme – evaluation report
Allan, H., O'Driscoll, M. and Everett, S. 2024. NCL Nursing and Midwifery systems leadership programme – evaluation report. Middlesex University.
Evaluation of a Health Education England simulation initiative in the Department of Adult Child Midwifery
O'Driscoll, M., Allan, H. and Traynor, M. 2024. Evaluation of a Health Education England simulation initiative in the Department of Adult Child Midwifery. London, UK Middlesex University.
Adult PKU clinics in the UK - users' experiences and perspectives
Ilgaz, F., Ford, S., O'Driscoll, M. and MacDonald, A. 2023. Adult PKU clinics in the UK - users' experiences and perspectives. Nutrients. 15 (20). https://doi.org/10.3390/nu15204352
Hungry for change: the experiences of people with PKU, and their caregivers, when eating out
Poole, G., Pinto, A., Evans, S., Ford, S., O'Driscoll, M., Buckley, S., Ashmore, C., Daly, A. and MacDonald, A. 2022. Hungry for change: the experiences of people with PKU, and their caregivers, when eating out. Nutrients. 14 (3). https://doi.org/10.3390/nu14030626
Evaluation of an online screen-based simulation initiative in the adult child midwifery department
O'Driscoll, M. and Traynor, M. 2021. Evaluation of an online screen-based simulation initiative in the adult child midwifery department. Middlesex University.
Provision and supervision of food and protein substitute in school for children with PKU: parent experiences
Jones, H., Pinto, A., Evans, S., Ford, S., O'Driscoll, M., Buckley, S., Ashmore, C., Daly, A. and MacDonald, A. 2021. Provision and supervision of food and protein substitute in school for children with PKU: parent experiences. Nutrients. 13 (11), pp. 1-13. https://doi.org/10.3390/nu13113863
Exploring factors having an impact on attitudes and motivations towards volunteering in the undergraduate nursing student population − A comparative study of the UK and Ghana
Dyson, S., Korsah, K., Liu, L., O'Driscoll, M. and van den Akker, O. 2021. Exploring factors having an impact on attitudes and motivations towards volunteering in the undergraduate nursing student population − A comparative study of the UK and Ghana. Nurse Education in Practice. 53, pp. 1-10. https://doi.org/10.1016/j.nepr.2021.103050
Accidental consumption of aspartame in phenylketonuria: patient experiences
Newbould, E., Pinto, A., Evans, S., Ford, S., O'Driscoll, M., Ashmore, C., Daly, A. and MacDonald, A. 2021. Accidental consumption of aspartame in phenylketonuria: patient experiences. Nutrients. 13 (2), pp. 1-13. https://doi.org/10.3390/nu13020707
Prescribing issues experienced by people living with phenylketonuria in the UK
Ford, S., O'Driscoll, M. and MacDonald, A. 2019. Prescribing issues experienced by people living with phenylketonuria in the UK. Molecular Genetics and Metabolism Reports. 21, pp. 1-7. https://doi.org/10.1016/j.ymgmr.2019.100527
HOw patients view extended half‐life products: impressions from real‐world experience (The HOPE study)
Khair, K., Pollard, D., Harrison, C., Hook, S., O'Driscoll, M. and Holland, M. 2019. HOw patients view extended half‐life products: impressions from real‐world experience (The HOPE study). Haemophilia. 25 (5), pp. 814-820. https://doi.org/10.1111/hae.13803
The extent, variability and attitudes towards volunteering among nursing students: What are the implications for pedagogy in nurse education?
O'Driscoll, M., Dyson, S., van den Akker, O. and Mehta, N. 2017. The extent, variability and attitudes towards volunteering among nursing students: What are the implications for pedagogy in nurse education? National Council of Voluntary Organisations Conference 2017. Nottingham, UK 07 - 08 Sep 2017
The extent, variability and attitudes towards volunteering among nursing students: Implications for pedagogy in nurse education
O'Driscoll, M., Dyson, S., Liu, L., van den Akker, O. and Mehta, N. 2017. The extent, variability and attitudes towards volunteering among nursing students: Implications for pedagogy in nurse education. 11th Annual International Conference on Sociology. Athens, Greece 01 - 04 May 2017
The UK Health and Social Care Act (2012) and new public management – more of the wrong medicine?
O'Driscoll, M. 2018. The UK Health and Social Care Act (2012) and new public management – more of the wrong medicine? ATINER: 4th Annual International Conference on Public Health. Athens, Greece 24 - 28 Jun 2018
Reproductive experience of women living with phenylketonuria
Ford, S., O'Driscoll, M. and MacDonald, A. 2018. Reproductive experience of women living with phenylketonuria. Molecular Genetics and Metabolism Reports. 17, pp. 64-68. https://doi.org/10.1016/j.ymgmr.2018.09.008
Compassion in Practice – evaluating the awareness, involvement and perceived impact of a national nursing and midwifery strategy amongst health care professionals in NHS Trusts in England
O'Driscoll, M., Allan, H., Liu, L., Corbett, K. and Serrant, L. 2018. Compassion in Practice – evaluating the awareness, involvement and perceived impact of a national nursing and midwifery strategy amongst health care professionals in NHS Trusts in England. Journal of Clinical Nursing. 27 (5-6), pp. e1097-e1109. https://doi.org/10.1111/jocn.14176
Do governing body and CSU nurses on clinical commissioning groups really lead a nursing agenda? Findings from a 2015 Survey of the Commissioning Nurse Leaders’ Network Membership
O'Driscoll, M., Allan, H., Lee, G., Savage, J., Tapson, C. and Dixon, R. 2018. Do governing body and CSU nurses on clinical commissioning groups really lead a nursing agenda? Findings from a 2015 Survey of the Commissioning Nurse Leaders’ Network Membership. Journal of Nursing Management. 26 (3), pp. 245-255. https://doi.org/10.1111/jonm.12485
The extent, variability, and attitudes towards volunteering among undergraduate nursing students: implications for pedagogy in nurse education
Dyson, S., Liu, L., van den Akker, O. and O'Driscoll, M. 2017. The extent, variability, and attitudes towards volunteering among undergraduate nursing students: implications for pedagogy in nurse education. Nurse Education in Practice. 23, pp. 15-22. https://doi.org/10.1016/j.nepr.2017.01.004
A report of a North Central and East London-wide evaluation of the CEPN multi-professional/collaborative learning groups
O'Driscoll, M., Traynor, M. and Dyson, S. 2017. A report of a North Central and East London-wide evaluation of the CEPN multi-professional/collaborative learning groups. Presented to Health Education England.
Survey of the Commissioning Nurse Leaders’ Network membership 2015: summary of results
Allan, H. and O'Driscoll, M. 2016. Survey of the Commissioning Nurse Leaders’ Network membership 2015: summary of results. Middlesex University.
Are senior nurses on Clinical Commissioning Groups in England inadvertently supporting the devaluation of their profession?: A critical integrative review of the literature
Allan, H., Dixon, R., Lee, G., O'Driscoll, M., Savage, J. and Tapson, C. 2016. Are senior nurses on Clinical Commissioning Groups in England inadvertently supporting the devaluation of their profession?: A critical integrative review of the literature. Nursing Inquiry. 23 (2), pp. 178-187. https://doi.org/10.1111/nin.12129
Nurses’ experiences of clinical commissioning group boards
Allan, H., O'Driscoll, M., Savage, J., Lee, G. and Dixon, R. 2016. Nurses’ experiences of clinical commissioning group boards. Nursing Standard. 30 (42), pp. 46-55. https://doi.org/10.7748/ns.2016.e9633
An evaluation of the impact of ‘Compassion in practice: nursing, midwifery and care staff - our vision and strategy’ on staff experience in NHS Trusts in England.
Allan, H., O'Driscoll, M., Liu, L., Corbett, K. and Department of Adult, Child and Midwifery, School of Health and Education, Middlesex University 2015. An evaluation of the impact of ‘Compassion in practice: nursing, midwifery and care staff - our vision and strategy’ on staff experience in NHS Trusts in England. School of Health and Education, Middlesex University.
Teachers' views of using e-learning for non-traditional students in higher education across three disciplines [nursing, chemistry and management] at a time of massification and increased diversity in higher education
Allan, H., O'Driscoll, M., Simpson, V. and Shawe, J. 2013. Teachers' views of using e-learning for non-traditional students in higher education across three disciplines [nursing, chemistry and management] at a time of massification and increased diversity in higher education. Nurse Education Today. 33 (9), pp. 1068-1073. https://doi.org/10.1016/j.nedt.2012.04.003
Experiences of supernumerary status and the hidden curriculum in nursing: a new twist in the theory-practice gap?
Allan, H., Smith, P. and O'Driscoll, M. 2011. Experiences of supernumerary status and the hidden curriculum in nursing: a new twist in the theory-practice gap? Journal of Clinical Nursing. 20 (5-6), pp. 847-855. https://doi.org/10.1111/j.1365-2702.2010.03570.x