The cognitive profile of Friedreich ataxia: a systematic review and meta-analysis
Abstract Background Study the cognitive profile of individuals with Friedreich ataxia (FRDA) and seek evidence for correlations between clinical, genetic and imaging characteristics and neuropsychological impairments. Methods Based on PRISMA guidelines, a meta-analysis was realized using the Pubmed...
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| Format: | Article |
| Language: | English |
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BMC
2022-03-01
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| Series: | BMC Neurology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12883-022-02615-3 |
| _version_ | 1818446177877622784 |
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| author | Gilles Naeije Jörg B Schulz Louise A Corben |
| author_facet | Gilles Naeije Jörg B Schulz Louise A Corben |
| author_sort | Gilles Naeije |
| collection | DOAJ |
| description | Abstract Background Study the cognitive profile of individuals with Friedreich ataxia (FRDA) and seek evidence for correlations between clinical, genetic and imaging characteristics and neuropsychological impairments. Methods Based on PRISMA guidelines, a meta-analysis was realized using the Pubmed and Scopus databases to identify studies (1950–2021) reporting neuropsychological test results in genetically confirmed FRDA and control participants in at least one of the following cognitive domains: attention/executive, language, memory and visuo-spatial functions as well as emotion. Studies using identical outcomes in a minimum of two studies were pooled. Pooled effect sizes were calculated with Cohen’s d. Results Eighteen studies were included. Individuals with FRDA displayed significantly lower performance than individuals without FRDA in most language, attention, executive function, memory visuospatial function, emotion regulation and social cognitive tasks. Among the included studies, thirteen studies examined the relationship between neuropsychological test results and clinical parameters and reported significant association with disease severity and six studies reviewed the relationship between neuroimaging measures and cognitive performance and mainly reported links between reduced cognitive performance and changes in cerebellar structure. Conclusions Individuals with FRDA display significantly lower performances in many cognitive domains compared to control participants. The spectrum of the cognitive profile alterations in FRDA and its correlation with disease severity and cerebellar structural parameters suggest a cerebellar role in the pathophysiology of FRDA cognitive impairments. |
| first_indexed | 2024-12-14T19:43:35Z |
| format | Article |
| id | doaj.art-915b5f05846449bcb4ba15d6d7a3f858 |
| institution | Directory Open Access Journal |
| issn | 1471-2377 |
| language | English |
| last_indexed | 2024-12-14T19:43:35Z |
| publishDate | 2022-03-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Neurology |
| spelling | doaj.art-915b5f05846449bcb4ba15d6d7a3f8582022-12-21T22:49:38ZengBMCBMC Neurology1471-23772022-03-0122111010.1186/s12883-022-02615-3The cognitive profile of Friedreich ataxia: a systematic review and meta-analysisGilles Naeije0Jörg B Schulz1Louise A Corben2Laboratoire de Cartographie fonctionnelle du Cerveau (LCFC), UNI – ULB Neuroscience Institute, Université libre de Bruxelles (ULB)Department of Neurology, RWTH Aachen University HospitalBruce Lefroy Centre for Genetic Health Research, Murdoch Children’s Research InstituteAbstract Background Study the cognitive profile of individuals with Friedreich ataxia (FRDA) and seek evidence for correlations between clinical, genetic and imaging characteristics and neuropsychological impairments. Methods Based on PRISMA guidelines, a meta-analysis was realized using the Pubmed and Scopus databases to identify studies (1950–2021) reporting neuropsychological test results in genetically confirmed FRDA and control participants in at least one of the following cognitive domains: attention/executive, language, memory and visuo-spatial functions as well as emotion. Studies using identical outcomes in a minimum of two studies were pooled. Pooled effect sizes were calculated with Cohen’s d. Results Eighteen studies were included. Individuals with FRDA displayed significantly lower performance than individuals without FRDA in most language, attention, executive function, memory visuospatial function, emotion regulation and social cognitive tasks. Among the included studies, thirteen studies examined the relationship between neuropsychological test results and clinical parameters and reported significant association with disease severity and six studies reviewed the relationship between neuroimaging measures and cognitive performance and mainly reported links between reduced cognitive performance and changes in cerebellar structure. Conclusions Individuals with FRDA display significantly lower performances in many cognitive domains compared to control participants. The spectrum of the cognitive profile alterations in FRDA and its correlation with disease severity and cerebellar structural parameters suggest a cerebellar role in the pathophysiology of FRDA cognitive impairments.https://doi.org/10.1186/s12883-022-02615-3CognitionCerebellumFriedreich ataxiaCerebellar cognitive affective syndrome |
| spellingShingle | Gilles Naeije Jörg B Schulz Louise A Corben The cognitive profile of Friedreich ataxia: a systematic review and meta-analysis BMC Neurology Cognition Cerebellum Friedreich ataxia Cerebellar cognitive affective syndrome |
| title | The cognitive profile of Friedreich ataxia: a systematic review and meta-analysis |
| title_full | The cognitive profile of Friedreich ataxia: a systematic review and meta-analysis |
| title_fullStr | The cognitive profile of Friedreich ataxia: a systematic review and meta-analysis |
| title_full_unstemmed | The cognitive profile of Friedreich ataxia: a systematic review and meta-analysis |
| title_short | The cognitive profile of Friedreich ataxia: a systematic review and meta-analysis |
| title_sort | cognitive profile of friedreich ataxia a systematic review and meta analysis |
| topic | Cognition Cerebellum Friedreich ataxia Cerebellar cognitive affective syndrome |
| url | https://doi.org/10.1186/s12883-022-02615-3 |
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