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Development in children with neurofibromatosis type 1 in early childhood
Franziska Krampe-Heni1, Tamara Fuschlberger2, Ute Wahlländer2
1TUM School of Medicine and Health, Pediatric Neurology, Kölner Platz 1, 80804 Munich, Germany; TUM School of Medicine and Health, Social Pediatrics, Heiglhoftr. 65, 81377 Munich, Germany; German Center for Child and Adolescent Health, partner site Munich, Germany.
Insights
Infants with Neurofibromatosis type 1 (NF1) show global developmental delays, particularly in visuospatial skills. Early intervention is crucial for optimal neurodevelopmental outcomes in children with NF1.
Area of Science:
- Developmental Pediatrics
- Neurogenetics
- Child Psychology
Background:
- Previous studies on Neurofibromatosis type 1 (NF1) focused on school-aged children.
- Early childhood development in NF1 remains under-characterized, particularly across all developmental domains.
Purpose of the Study:
- To characterize the early childhood development of infants with NF1.
- To identify specific developmental deficits in infants with NF1.
Main Methods:
- A cross-sectional cohort study of 32 infants with NF1 (12-47 months).
- Developmental assessment using the Movement Assessment Battery for Children-2 (MFED 1-4).
- Focused analysis on visual abilities, including color and visuospatial items.
Main Results:
- Infants with NF1 exhibited global developmental delay.
- A pronounced delay was observed in applying memorized knowledge.
- Significant deficits were identified in visuospatial abilities.
Conclusions:
- This is the first study to examine global development in infants with NF1 under 48 months.
- Visuospatial deficits in NF1 align with animal model findings and contribute to global delays.
- Early, targeted developmental therapy is recommended for infants with NF1 to improve neurodevelopmental outcomes.
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.
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