3.42 Assessing Functional Outcomes in Individuals With Phenylketonuria: Insights From the Weiss Functional Impairment Rating Scale

Document Type

Abstract

Publication Date

10-1-2025

Abstract

Objectives: Individuals with phenylketonuria (PKU) have a higher prevalence of neuropsychiatric symptoms, which could lead to impairment in daily functioning. Currently, there is no standardized protocol to assess functional impairment in individuals with PKU. Assessment of daily functioning is further hindered by a lack of easily accessible tools and time limitations in clinical settings. This retrospective study evaluated the use of the Weiss Functional Impairment Rating Scale (WFIRS), a brief self-report scale, in measuring degrees of functional impairment in daily living for older adolescents and adults with PKU. Methods: This IRB-approved study included a retrospective review of medical records for approximately 80 individuals receiving care in a hospital-based PKU/metabolic clinic. Demographic variables, concurrent phenylalanine (Phe) levels, and scores from the WFIRS, Generalized Anxiety Disorder 7 scale (GAD-7), Patient Health Questionnaire depression scale (PHQ-9), and Adult ADHD Self-Report Scale (ASRS) were analyzed using SPSS. Results: A total N = 30; mean age = 29.23 (+11.12; 17 to 56 years of age); 12 females/17 males; and mean concurrent Phe levels = 13.98 (+4.55) mg/dL (the normal range is < 2 mg/dL and the recommended treatment range is < 6 mg/dL) participated in this study. Blood Phe levels correlated significantly with the WFIRS total score (r = 0.501, p = .006), and the WFIRS total score also correlated significantly with GAD-7 (r = 0.726, p = .001), PHQ-9 (r = 0.875, p = .001), and ASRS total (r = 0.783, p = .001) scores. Conclusions: We studied the utility of using WFIRS, a brief self-report tool previously developed for ADHD populations, to assess aspects of daily functioning in individuals with PKU, a rare inherited metabolic disorder. There is a paucity of information about the impact of metabolic control and functional outcomes in this population. The WFIRS was sensitive to the impact of blood Phe levels, which reflect differences in metabolic control, and functional impairment on the WFIRS was also strongly associated with patient-reported neuropsychiatric symptoms. Current findings suggest that the WFIRS provides a practical and feasible alternative for assessing problems with daily functioning in individuals with PKU. ADOL, GS

Publication Title

Journal of the American Academy of Child and Adolescent Psychiatry

Volume

64

Issue

10 Supplement

First Page

S234

Last Page

S235

Comments

Journal of the American Academy of Child & Adolescent Psychiatry Conference held 2025-10-20 to 2025-10-25 in Chicago, IL, USA.

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