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

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

doi:10.1186/s13023-024-03454-w

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

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^*

^*Corresponding author af dette arbejde

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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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.

Originalsprog	Engelsk
Artikelnummer	441
Tidsskrift	Orphanet Journal of Rare Diseases
Vol/bind	19
Antal sider	11
ISSN	1750-1172
DOI	https://doi.org/10.1186/s13023-024-03454-w
Status	Udgivet - 2024

Bibliografisk note

Funding Information:
We wish to thank all the participants who contributed with their time to this study. Also, we would like to thank the student assistants who diligently performed the tests. Finally, we grategully dedicate this paper to the respected memory of Dr. Sven Asger Sorensen, DMSc (1936\u20132021); in the mid-1980s, he began the recontact and updating of a national register of persons diagnosed with neurofibromatosis first assembled in the 1940s by A. Borberg, that made our current work feasible and possible.

Funding Information:
The work was supported by the \u2018Boet efter Emanuel Poulsen\u2019 foundation and the U.S. Army Medical Research and Material Command through the Neurofibromatosis Research Program: Award No. W81XWH-14-1-0054.

Publisher Copyright:
© The Author(s) 2024.

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10.1186/s13023-024-03454-wLicens: CC BY

FulltextForlagets udgivne version, 1,36 MBLicens: CC BY

Citationsformater

Doser, K., Jepsen, J. R. M., Kenborg, L., Miskowiak, K. W., Albieri, V., Dalton, S. O., Krøyer, A., Hove, H., Østergaard, J. R., Johansen, C., Sørensen, S. A., Mulvihill, J., Winther, J. F., & Bidstrup, P. E. (2024). Neurocognitive functioning in adults with neurofibromatosis type 1 - a nationwide population-based study. Orphanet Journal of Rare Diseases, 19, Artikel 441. https://doi.org/10.1186/s13023-024-03454-w

Doser, K, Jepsen, JRM, Kenborg, L, Miskowiak, KW, Albieri, V, Dalton, SO, Krøyer, A, Hove, H, Østergaard, JR, Johansen, C, Sørensen, SA, Mulvihill, J, Winther, JF & Bidstrup, PE 2024, 'Neurocognitive functioning in adults with neurofibromatosis type 1 - a nationwide population-based study', Orphanet Journal of Rare Diseases, bind 19, 441. https://doi.org/10.1186/s13023-024-03454-w

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title = "Neurocognitive functioning in adults with neurofibromatosis type 1 - a nationwide population-based study",

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.",

keywords = "Adults, Executive functioning, Neurocognitive functioning, Neurofibromatosis type 1",

author = "Karoline Doser and Jepsen, {Jens Richardt M{\o}llegaard} and Line Kenborg and Miskowiak, {Kamilla Woznica} and Vanna Albieri and Dalton, {Susanne Oksbjerg} and Anja Kr{\o}yer and Hanne Hove and {\O}stergaard, {John R.} and Christoffer Johansen and S{\o}rensen, {Sven Asger} and John Mulvihill and Winther, {Jeanette Falck} and Bidstrup, {Pernille Envold}",

note = "Publisher Copyright: {\textcopyright} The Author(s) 2024.",

year = "2024",

doi = "10.1186/s13023-024-03454-w",

language = "English",

volume = "19",

journal = "Orphanet Journal of Rare Diseases",

issn = "1750-1172",

publisher = "BioMed Central",

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TY - JOUR

T1 - Neurocognitive functioning in adults with neurofibromatosis type 1 - a nationwide population-based study

AU - Doser, Karoline

AU - Jepsen, Jens Richardt Møllegaard

AU - Kenborg, Line

AU - Miskowiak, Kamilla Woznica

AU - Albieri, Vanna

AU - Dalton, Susanne Oksbjerg

AU - Krøyer, Anja

AU - Hove, Hanne

AU - Østergaard, John R.

AU - Johansen, Christoffer

AU - Sørensen, Sven Asger

AU - Mulvihill, John

AU - Winther, Jeanette Falck

AU - Bidstrup, Pernille Envold

PY - 2024

Y1 - 2024

N2 - 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.

AB - 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.

KW - Adults

KW - Executive functioning

KW - Neurocognitive functioning

KW - Neurofibromatosis type 1

U2 - 10.1186/s13023-024-03454-w

DO - 10.1186/s13023-024-03454-w

M3 - Journal article

C2 - 39609892

AN - SCOPUS:85210477091

SN - 1750-1172

VL - 19

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

M1 - 441

ER -