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Psychiatric diagnosis and behavioral characteristics of phenylketonuric children
Insights
Phenylalanine loading in children with phenylketonuria did not significantly impact cognitive performance. However, psychiatric disorders, including attention deficit disorder (ADD), were prevalent in the study group.
Area of Science:
- Neuroscience
- Metabolic Disorders
- Child Psychiatry
Background:
- Phenylketonuria (PKU) is a genetic disorder requiring strict dietary management.
- The impact of phenylalanine levels on cognitive and psychiatric function in treated PKU patients is not fully understood.
- Previous research suggests potential links between metabolic control and behavioral outcomes in PKU.
Purpose of the Study:
- To assess the behavioral effects of acute phenylalanine loading in children with phenylketonuria.
- To evaluate the psychiatric characteristics of children with phenylketonuria on a low-phenylalanine diet.
- To investigate the relationship between phenylalanine levels and performance on a Continuous Performance Task (CPT).
Main Methods:
- A double-blind, placebo-controlled study involving 13 normal-IQ children with phenylketonuria.
- Acute loading with either phenylalanine or placebo, followed by hourly monitoring of behavioral and metabolic variables for five hours.
- Assessment of cognitive performance using a standardized Continuous Performance Task (CPT) and psychiatric evaluation through structured interviews.
Main Results:
- Phenylalanine loading resulted in a nonsignificant decrease in performance on the CPT compared to placebo.
- Six out of 13 children exhibited psychiatric disorders.
- Three children currently met criteria for attention deficit disorder (ADD), with an additional six having a past diagnosis of ADD.
Conclusions:
- Acute phenylalanine loading does not appear to significantly impair cognitive function in treated phenylketonuric children.
- A notable prevalence of psychiatric disorders, particularly attention deficit disorder (ADD), exists in this cohort of phenylketonuric children.
- Further research is warranted to explore the underlying mechanisms of psychiatric comorbidities in phenylketonuria.
Abstract:
This study evaluated the psychiatric characteristics and the behavioral effects of an acute load of phenylalanine on phenylketonuric children. The sample consisted of 13 normal-IQ children who were identified at birth as having phenylketonuria and were subsequently treated with a strict low phenylalanine diet. After baseline measurements, the subjects were loaded with placebo or phenylalanine following a double-blind design. Behavioral and metabolic variables were monitored at hourly intervals for five subsequent hours. The effects of acute loading were measured by changes in a standardized Continuous Performance Task (CPT). Psychiatric symptoms were compiled through a structured psychiatric interview of the child and the parent. Results demonstrated that phenylalanine loading, compared to placebo, caused a nonsignificant decrement in performance on CPT testing. Psychiatric disorders were found in six of the 13 subjects with three currently meeting criteria for attention deficit disorder (ADD). In addition, six other subjects were diagnosed in the past as having ADD using DSM-III criteria.