Cognition in children with neurofibromatosis type 1: data from a population-based study

Annukka Lehtonen; Shruti Garg; Stephen A Roberts; Dorothy Trump; D Gareth Evans; Jonathan Green; Susan M Huson

doi:10.1111/dmcn.12734

Cognition in children with neurofibromatosis type 1: data from a population-based study

Dev Med Child Neurol. 2015 Jul;57(7):645-651. doi: 10.1111/dmcn.12734. Epub 2015 Mar 1.

Authors

Annukka Lehtonen¹, Shruti Garg², Stephen A Roberts³, Dorothy Trump, D Gareth Evans¹, Jonathan Green², Susan M Huson¹

Affiliations

¹ Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
² Institute for Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK.
³ Centre for Biostatistics, Institute of Population Health, University of Manchester, Manchester, UK.

PMID: 29927487
DOI: 10.1111/dmcn.12734

Abstract

Aim: This study aimed to investigate the core cognitive deficits in children with neurofibromatosis type 1 (NF1).

Method: The study recruited 49 children with NF1 (25 males, 24 females; mean age 11y 9mo [SD 3y 2mo]), 19 healthy siblings of children with NF1 (sibling comparisons; mean age 12y 7mo [SD 2y 7mo], 9 males, 10 females) and 29 healthy children from the community (community comparisons; mean age 11y [SD 2y 7mo], 12 males, 17 females). Participants completed a battery of cognitive tests including tests of intelligence, academic achievement, attention, visuoperceptual functioning, visual learning, executive functioning, and non-verbal working memory tests.

Results: Our study, using a population-based sample, confirmed previous findings from studies using variable sampling methods. Children with NF1 had significantly lower Full-scale IQs (p=0.04) and lower academic achievement (p=0.026-0.005) than their siblings. Compared with their siblings, they also had significantly poorer visuospatial processing (p=0.007), visual associate learning (p=0.014), non-verbal working memory (p=0.023), and executive function (p<0.001). Data from the community comparisons were not included because they were subject to significant selection bias.

Interpretation: Population-based frequencies for cognitive deficits in children with NF1 are similar to the frequencies in non-population based samples. This study highlights the heterogeneous nature of cognitive problems in children with NF1 and the need for monitoring and support at school.