Invisible impairments? A study of emotional and social functioning in children with inborn errors of metabolism

Abstract

Abstract Background Inborn errors of metabolism (IEM) can affect the cognitive and socio-emotional development of children, even when a stable metabolic state is maintained and treatment is initiated early. Increasing evidence suggests that certain groups of patients with IEM may experience difficulties in emotion recognition, affect regulation, and social functioning, regardless of their intellectual level. The aim of this study was to compare socio-emotional competencies in children with selected inborn errors of metabolism with those observed in healthy children. The study group comprised children with phenylketonuria (PKU), classical galactosaemia (CG), and a heterogeneous group of rare inborn errors of metabolism associated with a high risk of acute metabolic decompensation, including organic acidurias and fatty acid oxidation disorders (hereafter referred to as the non-PKU group). Methods The study involved 127 children aged 5–10 years: 34 children with CG, 34 with PKU, 25 with non-PKU, and 34 healthy children. All children with IEM were in a state of metabolic stability. To measure socio-emotional competencies, four subscales of the Intelligence and Developmental Scales were used: emotion recognition, emotion regulation, social understanding, and social strategies. Intellectual functioning was assessed using the Stanford-Binet Intelligence Scales, Fifth Edition. Results Significant differences were found in selected emotional and social competencies between children with IEM and healthy controls, while overall intellectual functioning was generally within the expected range. Children with CG and children with non-PKU disorders showed lower scores in emotion recognition, emotion regulation and social understanding than healthy controls. Conclusions The findings indicate the need for systematic monitoring of socio-emotional development in children with IEM, even when intellectual functioning is not globally impaired. They also highlight the importance of psychological care and interventions tailored to the individual patient and the specific type of IEM.