Review: emotional and behavioral functioning in phenylketonuria

Area of Science:

• Neurodevelopmental Disorders
• Psychological Sequelae
• Metabolic Disorders

Background:

• Phenylketonuria (PKU) is a rare genetic disorder requiring early dietary intervention.
• The long-term psychological impact of early-treated PKU is not fully understood.
• Dietary control is crucial for managing PKU but may influence cognitive and emotional functioning.

Purpose of the Study:

• To synthesize findings from 17 studies on the psychological sequelae of early-treated PKU.
• To identify the typical psychological profile associated with PKU.
• To assess the prevalence of emotional and behavioral disturbances in individuals with PKU compared to controls.

Main Methods:

• Systematic review of 17 studies.
• Computerized searches of PsycINFO database.
• Analysis of studies employing behavioral, personality, and diagnostic measures.

Main Results:

• Consistent findings indicate a psychological profile including attentional difficulties, depression, anxiety, and low self-esteem.
• Methodological limitations in existing studies restrict definitive conclusions on the nature and severity of these difficulties.
• Only one study utilized appropriate comparison groups to address the research questions.

Conclusions:

• A biopsychosocial framework is essential for understanding emotional and behavioral functioning in PKU.
• Further research is needed to address critical methodological factors and clarify the psychological impact of PKU.
• Investigating the interplay of biological, psychological, and social factors is crucial for optimizing outcomes in individuals with PKU.