Development in children with neurofibromatosis type 1 in early childhood

Introduction: The development of children with NF1 has so far been primarily studied in school-age children with various subtests showing heterogeneous profiles. The aim of this study is to characterise the development of infants with NF1 across all areas of early childhood development. Material and methods: 32 infants with NF1, aged 12–47 months, participated in this cross-sectional cohort study. Development was assessed with the MFED 1–4 comprising 7 test categories. Items measuring visual abilities (colour and visuospatial items) from all subcategories were selected and compared to the normal population. Results: Infants with NF1 showed a global developmental delay, more pronounced in application of memorised knowledge. A particular deficit was found in items requiring spatial vision. Discussion: The present study is the first to examine the global development of children with NF1 under 48 months. Consistent with animal data, we found significant deficits in visuospatial abilities, which may significantly contribute to the perceived global developmental delay. These findings underline the need for early and specific developmental therapy in this patient group in order to train the development early in infancy and to achieve the best neurodevelopmental outcome.