Research Information System
EUROPEAN JOURNAL OF PEDIATRICS, vol.180, no.1, pp.217-224, 2021 (SCI-Expanded)
Biotinidase deficiency (BD) may cause neurological symptoms and developmental problems. However, newborn screening of BD and early biotin treatment prevent the manifestation of the majority of symptoms. This study intended to examine the developmental and behavioral outcomes as well as maternal anxiety and depressive symptoms of preschool-aged children with BD and to compare these with the outcomes of healthy preschool-aged children. In total, 49 children with BD and 23 healthy children are included. All children were screened for developmental and behavioral problems. Moreover anxiety and depressive symptomatology of their mothers were evaluated. Despite the high percentage of developmental delay in BD group, the numbers of children screened positive for a developmental delay were statistically similar in children with BD and healthy children. Among patients with BD, children with risk of developmental delay had more unfavorable socio-demographic features compared to typically developing ones. Behavioral problem scores, maternal anxiety, and depressive symptoms scores of children with BD were not higher than the healthy children.