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Evaluation of Attention-deficit/Hyperactivity Disorder in Referred Patients to the PKU Clinic in Yazd, Iran
Mahtab Ordoei1, Razieh Fallah2, Abolfazl Shafii Ronizi3
1Pediatric Endocrinology, Department of Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Insights
Attention-deficit/hyperactivity disorder (ADHD) is highly prevalent in phenylketonuria (PKU) patients, especially in girls. High phenylalanine (PA) levels and delayed PKU diagnosis are linked to ADHD in these individuals.
Area of Science:
- Metabolic Disorders
- Neurodevelopmental Disorders
- Pediatric Neurology
Background:
- Phenylketonuria (PKU) is a genetic disorder characterized by phenylalanine (PA) buildup.
- Elevated PA levels and altered dopamine metabolism in PKU are hypothesized to increase susceptibility to attention-deficit/hyperactivity disorder (ADHD).
Purpose of the Study:
- To determine the frequency of ADHD in patients diagnosed with PKU.
- To investigate potential correlations between ADHD and PKU characteristics.
Main Methods:
- A cross-sectional study evaluated PKU patients over three years old.
- ADHD symptoms were assessed using parent interviews and the ADHD diagnostic rating scale based on DSM-IV criteria.
Main Results:
- 51.5% of PKU patients exhibited ADHD symptoms.
- ADHD was more prevalent in girls (77.8%) than boys (41%).
- Patients with ADHD had a later PKU diagnosis and significantly higher phenylalanine levels.
Conclusions:
- The prevalence of ADHD in PKU patients is notably high.
- Late PKU diagnosis and sustained high PA levels may contribute to ADHD development.
- Regular screening and monitoring for ADHD symptoms in PKU patients are recommended.
Objective:
The imbalance of phenylalanine (PA) to tyrosine level and decreased dopamine brain level in patients with phenylketonuria (PKU) may have a role in their susceptibility of them to attention-deficit/hyperactivity disorder (ADHD). This study aimed to evaluate the frequency of ADHD in referred patients to PKU Clinic in Yazd, Iran.
Materials & Methods:
In this cross-sectional analytical study, all patients older than three years with PKU who were referred to the PKU Clinic of Shahid Sadoughi Hospital, Yazd, Iran, in 2018 were evaluated, and ADHD symptoms in them were assessed via parent face-to-face interview. The patients were diagnosed with ADHD if they scored at least of 20 on ADHD diagnostic rating scale via parent interview based on DSM-VI criteria.
Results:
Fourteen boys and 21girls with a mean age of 9.55±1.8 years were evaluated. 51.5% of those diagnosed with PKU had ADHD. Accordingly, ADHD was more frequent in girls (77.8% vs. 41% in boys, P=0.03). The mean age of diagnosis of PKU was significantly higher in patients with ADHD (52.54±15.65 months vs. 29.75±9.65 months, P = 0.03). The mean of PA level in the last six months (15.59±5.95 vs. 8.72+5.18, P= 0.005) and mean of the last six PA levels (14.76±4.71 vs. 8.96±3.86, P= 0.03) were significantly higher in ADHD group.
Conclusion:
The prevalence of ADHD in phenylketonuria patients in the present study was much more than in other studies. Late diagnosis of PKU and long-term high PA blood and brain level might be associated with increased neonatal screening. Hence, regular follow-up and continuous evaluation of patients with PKU for ADHD symptoms should be performed.
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