Related Experiment Videos
Evolution of daytime quiet sleep components in early treated phenylketonuric infants
G F De Giorgis1, E Nonnis, F Crocioni
1Dipartimento di Scienze Neurologiche e Psichiatriche dell' Età Evolutiva, Università La Sapienza, Roma, Italy.
Insights
Early detected phenylketonuria (PKU) children show delayed maturation of 'tracé alternant' (TA) and sleep spindles. These neurophysiological brain alterations may offer early diagnostic insights for at-risk infants.
Area of Science:
- Neuroscience
- Developmental Pediatrics
- Sleep Medicine
Background:
- Phenylketonuria (PKU) is a genetic disorder affecting brain development.
- Early detection and intervention are crucial for managing PKU.
- Sleep patterns are important indicators of neurological maturation.
Purpose of the Study:
- To compare the maturation of 'tracé alternant' (TA) and sleep spindles in early-detected PKU infants versus controls.
- To investigate potential neurophysiological markers for early diagnosis in at-risk infants.
Main Methods:
- Electroencephalogram (EEG) recordings were analyzed in 16 PKU infants and 42 controls during their first months of life.
- Maturation scores for TA and sleep spindles were compared between groups at specific age intervals (5th-8th week and 9th-12th week).
Main Results:
- PKU infants exhibited significantly delayed maturation of TA patterns compared to controls (P < 0.001 for 5th-8th week; P < 0.002 for 9th-12th week).
- Sleep spindle maturation was also significantly delayed in PKU infants (P < 0.01 for 5th-8th week; P < 0.02 for 9th-12th week).
- Both TA and spindle maturation normalized after 12 weeks of age in the PKU group.
Conclusions:
- A consistent delay in TA and sleep spindle maturation is observed in early-detected PKU children.
- These sleep component maturational delays may serve as sensitive tools for early neurophysiological brain alteration diagnosis in at-risk infants.
- The observed delays correlate with phenylalanine normalization but may not be solely dependent on it.
Abstract:
The maturational patterns of 'tracé alternant' (TA) and sleep spindles obtained from 16 early detected phenylketonuric (PKU) children during their first months of life were compared with others that were evaluated in recordings taken from 42 controls of the same age group. The TA maturation evolved significantly later in the PKU group than in the control group during the 5th-8th week (the TA score for the PKU group was 64% vs. 10% in the control group, P < 0.001). Afterwards, during the 9th-12th week the score for the PKU group was 27% vs. 0% in the controls (P < 0.002). The sleep spindle evolution score also matured significantly later in the PKU than the control group: the score was 31% in PKU children vs. 85% in controls for the 5th-8th week of age (P < 0.01), and it was 66% vs. 96% for the 9th-12th week (P < 0.02). After the 12th week, TA pattern could not be detected, and spindles reached complete maturation in the PKU children as well. Our results show a consistent delay in the maturation of TA and spindle scores in PKU children. This trend of delay is parallel to the plasma phenylalanine normalization, but not necessarily dependent only on it. In conclusion, we suggest that studies on the critical maturational periods of different sleep components (TA and sleep spindles) might provide a sensitive tool for early diagnosis of neurophysiological brain alterations during the first trimester of life in a population of children "at risk'.