Enhancing mental health screening practices for adolescents with phenylketonuria: A quality-improvement initiative

Phenylketonuria is a rare inherited metabolic disease associated with cognitive and psychological complications. Despite global recommendations for routine mental health screening, implementation in metabolic care settings remains inconsistent. Screening barriers include time constraints, reimbursement concerns, and infrastructure for follow-up care.

Mental health conditions often go undiagnosed by phenylketonuria clinical teams; the staff of a United States metabolic disorder clinic lacked a formal screening process to identify depression and anxiety in this high-risk population.

Following a structured quality-improvement framework, the nurse practitioner-led project team created a clinical pathway and toolkit for using validated depression and anxiety screening tools. Staff received training on these resources, and data collection occurred during 2024 through surveys and electronic medical records.

The training outlined all toolbox elements and the clinical pathway, including when and how to perform screening, interpret results, and referral systems for mental health services. Implementation included identifying eligible patients, following new clinical workflows, and evaluating project outcomes.

Staff ( n = 19) knowledge, confidence, and screening practices improved, with most eligible individuals receiving screening. The project facilitated earlier recognition of mental health concerns, although some barriers to implementation remained.

Implementing a structured screening process was feasible and enhanced clinical practice. The project highlights the role of nursing leadership and clinical expertise in advancing access to mental health care and integrating screening into routine diagnostic services for adolescents with metabolic disease.