Psychiatric symptoms in adults with phenylketonuria.

BACKGROUND: The objective of this study was to identify psychiatric symptom patterns reported by individuals with phenylketonuria (PKU) in the outpatient clinic setting. METHODS: Brief Symptom Inventory (BSI) results, phenylalanine (phe) levels, and demographic information were collected through a retrospective chart review on 64 participants in the study, "A Diversified Approach for PKU Treatment" (ADAPT). RESULTS: The number of BSI scores meeting clinical threshold was significantly elevated for all global indexes and 6 out of 7 symptom subscales in patients with PKU. Recent and mean phe levels were correlated with age at the time of screening (R(2)=0.10, R(2)=0.10, respectively; p<0.05). Psychoticism and the Positive Symptom Distress Index (PSDI) scores were associated with metabolic control. CONCLUSIONS: The results of this study demonstrate a positive correlation between phe levels and psychiatric symptom severity in individuals with PKU.

A diversified approach for PKU treatment: routine screening yields high incidence of psychiatric distress in phenylketonuria clinics.

OBJECTIVES: Individuals with phenylketonuria (PKU) treated early and continuously are reported to have psychiatric and executive function impairments. The feasibility of screening for psychiatric distress and executive function impairment in individuals with PKU was tested in 3 separate clinics in North America. METHODS: Individuals were offered screening for psychiatric distress using the Pediatric Symptom Checklist, the PSC-Youth Report or the Brief Symptom Inventory and executive function impairment using the Behavior Rating Inventory of Executive Function. Gender, age and blood phenylalanine (Phe) concentrations obtained most recently and during the 2 years prior to screening were assessed. RESULTS: More than 90% of patients with PKU accepted the screening for psychiatric distress during their routine clinic visit. The screening took 15-20 min. 32% of patients screened positive for psychiatric distress and 19% for executive function impairment. More individuals >18 years screened positive for psychiatric distress while a similar number screened positive for executive function impairment across age groups. Lower blood Phe levels correlated with negative screening for psychiatric distress. Patients positive for psychiatric distress had higher (p=0.009) median and most recent blood Phe values (p=0.05). DISCUSSION/CONCLUSIONS: Routine screening for psychiatric distress of patients with phenylketonuria could be easily implemented in current clinic structures. High incidences of positive screens reinforce the need for regular psychiatric assessments of individuals with PKU. Identification and referral to local mental health providers might help to improve the standard of care for individuals with PKU.