Assessing sleep habits in school-aged children with phenylketonuria: a comparative study

Area of Science:

• Metabolic disorders
• Neurodevelopmental disorders
• Sleep science

Background:

• Phenylketonuria (PKU) is a metabolic disorder affecting phenylalanine hydroxylase, potentially causing neurodevelopmental issues.
• Sleep is vital for cognitive and behavioral development, yet underexplored in pediatric PKU.
• Existing research on PKU and sleep primarily focuses on adults, with limited data on school-aged children.

Purpose of the Study:

• To evaluate sleep characteristics in school-aged children with PKU compared to hyperphenylalaninemia (HPA) and healthy controls.
• To identify factors influencing sleep patterns in these pediatric groups.
• To investigate the relationship between phenylalanine levels, sleep hygiene, and sleep disturbances.

Main Methods:

• A cohort of 101 children (aged 5-10 years) including 37 with PKU, 31 with HPA, and 33 healthy controls.
• Sleep quality and disturbances assessed via the Children's Sleep Habits Questionnaire (CSHQ) and parent reports.
• Analysis included phenylalanine levels and sleep hygiene practices.

Main Results:

• No significant differences in overall CSHQ scores were found across the PKU, HPA, and control groups.
• Children with PKU were less likely to awaken independently compared to other groups.
• Phenylalanine levels correlated with reduced sleep anxiety, but not overall sleep characteristics.
• Sleep hygiene influenced sleep in HPA and control groups, but not in the PKU group.

Conclusions:

• Sleep patterns in school-aged children with PKU are largely similar to HPA and control groups, with a notable exception in self-awakening.
• The lack of sleep hygiene influence in the PKU group suggests unique regulatory factors.
• Further research is needed to explore biological, behavioral, and environmental determinants of sleep in PKU for targeted interventions.