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Orphanet Journal of Rare Diseases
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Open Access 01-12-2024 | Neurofibromatosis Type 1 | Research

Neurocognitive functioning in adults with neurofibromatosis type 1- a nationwide population-based study

Authors: Karoline Doser, Jens Richardt Møllegaard Jepsen, Line Kenborg, Kamilla Woznica Miskowiak, Vanna Albieri, Susanne Oksbjerg Dalton, Anja Krøyer, Hanne Hove, John R. Østergaard, Christoffer Johansen, Sven Asger Sørensen, John Mulvihill, Jeanette Falck Winther, Pernille Envold Bidstrup

Published in: Orphanet Journal of Rare Diseases | Issue 1/2024

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Abstract

Background

Neurofibromatosis type 1 (NF1) is a genetic condition characterized by various somatic manifestations and cognitive impairments, but the latter are sparsely described in adults. This study aimed at characterizing potential impairments of neurocognitive functions using neuropsychological tests as well as a self-report questionnaire.

Methods

In a nationwide, population-based study including 103 adults with NF1 and 38 age- and gender-matched NF1-free comparisons, we used a comprehensive neurocognitive test battery to assess intelligence and visual short-term memory, immediate visuospatial recall, reaction time, sustained attention, motor speed, planning, planning time, working memory as well as multitasking and a questionnaire to assess executive functions. Descriptive statistics, multivariate analysis of variance (MANOVA), and general linear models with repeated measure analysis of variance (ANOVA) were used.

Results

We observed a statistically significant difference in overall performance-based cognitive functioning. Adults with NF1 showed significant, moderate-to-severe impairments in intelligence, visual short-term memory, immediate visuospatial recall, sustained attention (p < 0.0001–0.002), and some executive functions (p = 0.008 − 0.001), whereas other cognitive functions (multitasking, reaction time, motor speed, spatial working memory, planning time, and planning efficacy as well as some self-reported executive functions) were unimpaired.

Conclusions

This is the first study with a population-based sample of persons with NF1 and the results show impairments of intelligence and other cognitive functions. The pattern of both significant cognitive impairments and non-significantly different cognitive functions suggests a cognitive profile of selective rather than generalized cognitive deficits in NF1.
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Metadata
Title
Neurocognitive functioning in adults with neurofibromatosis type 1- a nationwide population-based study
Authors
Karoline Doser
Jens Richardt Møllegaard Jepsen
Line Kenborg
Kamilla Woznica Miskowiak
Vanna Albieri
Susanne Oksbjerg Dalton
Anja Krøyer
Hanne Hove
John R. Østergaard
Christoffer Johansen
Sven Asger Sørensen
John Mulvihill
Jeanette Falck Winther
Pernille Envold Bidstrup
Publication date
01-12-2024
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2024
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-024-03454-w

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