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Updated: Jun 20, 2025

Psychophysiological Assessment of the Effectiveness of Emotion Regulation Strategies in Childhood
Published on: February 11, 2017
Emotional and behavioural functioning in children with tyrosinaemia type 1
Monika Pohorecka1, Marcin Biernacki2, Anna Jakubowska-Winecka3
1Clinical Department of Pediatrics and Allergology, National Medical Institute of the Ministry of Interior and Administration, Warsaw, Poland.
Fluctuations in phenylalanine levels in tyrosinaemia type I patients correlate with emotional and behavioral issues. Managing these levels may improve quality of life and development.
Area of Science:
- Metabolic disorders
- Neurodevelopmental disorders
- Pediatric psychology
Background:
- Tyrosinaemia type I is a rare hereditary metabolic disease.
- Nitisinone treatment has improved survival but revealed socio-emotional challenges.
- Understanding the impact of metabolic control on behavior is crucial.
Purpose of the Study:
- To assess the relationship between serum tyrosine and phenylalanine levels and socio-emotional functioning.
- To determine the intelligence quotient (IQ) of patients with tyrosinaemia type I.
- To identify factors influencing behavioral outcomes in treated patients.
Main Methods:
- Study included 12 children with tyrosinaemia type I treated with nitisinone and diet.
- Psychological evaluation used the Child Behaviour Checklist (CBCL)/4-18.
- Intelligence was measured using the Stanford-Binet 5 (SB5) Intelligence Scale.
Main Results:
- Phenylalanine variability correlated with emotional and behavioral functioning, particularly externalizing behaviors.
- Externalizing behaviors were associated with maladjustment and aggression.
- All patients demonstrated intellectual and cognitive function within the normal range.
Conclusions:
- Avoiding significant phenylalanine level fluctuations may enhance quality of life.
- Regular psychological evaluations are recommended for early detection and intervention.
- Optimizing development and potential requires managing metabolic control and behavior.
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