Strategies for Successful Long-Term Engagement of Adults With Phenylalanine Hydroxylase Deficiency Returning to the Clinic

Janet Thomas, Mina Nguyen-Driver, Heather Bausell, Jane Breck, Javier Zambrano, Vanessa Birardi

Research output: Contribution to journalReview articlepeer-review

4 Scopus citations

Abstract

Nearly half of all patients diagnosed with phenylalanine hydroxylase (PAH) deficiency, also known as phenylketonuria, are lost to follow-up (LTFU); most are adults who stopped attending clinic after the age of 18 years. To understand why adult patients with PAH deficiency disengage from their clinic, a focus group of 8 adults with PAH deficiency who had been LTFU for 2 or more years was held in March 2016. Ten clinicians observed the focus group and discussed strategies for successfully reengaging adult patients and encouraging lifelong management of PAH deficiency. Four strategies were proposed: (1) create a safe, supportive environment, (2) acknowledge patients as partners in their care, (3) develop individualized management plans, and (4) provide patients with additional resources. These strategies provide a framework to motivate change in clinical practice to meet the unique needs of adults with PAH deficiency.

Original languageEnglish (US)
JournalJournal of Inborn Errors of Metabolism and Screening
Volume5
DOIs
StatePublished - Sep 25 2017

Keywords

  • management
  • metabolic clinic
  • patient outcomes
  • phenylalanine hydroxylase deficiency
  • phenylketonuria
  • rare disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Genetics(clinical)

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