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 neuropsycho...
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| Language: | English |
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BMC
2024-11-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-024-03454-w |
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| author | 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 |
| author_facet | 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 |
| author_sort | Karoline Doser |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-eb13712b8364447c908a63a6f9f1824a |
| institution | Kabale University |
| issn | 1750-1172 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-eb13712b8364447c908a63a6f9f1824a2024-12-01T12:44:36ZengBMCOrphanet Journal of Rare Diseases1750-11722024-11-0119111110.1186/s13023-024-03454-wNeurocognitive functioning in adults with neurofibromatosis type 1- a nationwide population-based studyKaroline Doser0Jens Richardt Møllegaard Jepsen1Line Kenborg2Kamilla Woznica Miskowiak3Vanna Albieri4Susanne Oksbjerg Dalton5Anja Krøyer6Hanne Hove7John R. Østergaard8Christoffer Johansen9Sven Asger Sørensen10John Mulvihill11Jeanette Falck Winther12Pernille Envold Bidstrup13Psychological Aspects of Cancer, Danish Cancer InstituteCenter for Clinical Intervention and Center for Neuropsychiatric Schizophrenia Research, Capital Region Copenhagen, University of CopenhagenChildhood Cancer Research Group, Danish Cancer InstituteCopenhagen Affective Disorder Research Centre (CADIC), Psychiatric Centre Copenhagen, Copenhagen University Hospital RigshospitaletStatistics and Data Analysis, Danish Cancer InstituteCancer Survivorship, Danish Cancer InstituteChildhood Cancer Research Group, Danish Cancer InstituteCentre for Rare Diseases, Copenhagen University Hospital, RigshospitaletCenter for Rare Disease, Aarhus University HospitalCASTLE Cancer Late Effect Research, Oncology Clinic, Copenhagen University Hospital RigshospitaletDepartment of Pediatrics, University of OklahomaDepartment of Pediatrics, University of OklahomaChildhood Cancer Research Group, Danish Cancer InstitutePsychological Aspects of Cancer, Danish Cancer InstituteAbstract 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.https://doi.org/10.1186/s13023-024-03454-wNeurofibromatosis type 1AdultsNeurocognitive functioningExecutive functioning |
| spellingShingle | 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 Neurocognitive functioning in adults with neurofibromatosis type 1- a nationwide population-based study Orphanet Journal of Rare Diseases Neurofibromatosis type 1 Adults Neurocognitive functioning Executive functioning |
| title | Neurocognitive functioning in adults with neurofibromatosis type 1- a nationwide population-based study |
| title_full | Neurocognitive functioning in adults with neurofibromatosis type 1- a nationwide population-based study |
| title_fullStr | Neurocognitive functioning in adults with neurofibromatosis type 1- a nationwide population-based study |
| title_full_unstemmed | Neurocognitive functioning in adults with neurofibromatosis type 1- a nationwide population-based study |
| title_short | Neurocognitive functioning in adults with neurofibromatosis type 1- a nationwide population-based study |
| title_sort | neurocognitive functioning in adults with neurofibromatosis type 1 a nationwide population based study |
| topic | Neurofibromatosis type 1 Adults Neurocognitive functioning Executive functioning |
| url | https://doi.org/10.1186/s13023-024-03454-w |
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