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Dyslexia and cognitive impairment in adult patients with myotonic dystrophy type 1: a clinical prospective analysis

BACKGROUND: Cognitive impairments in patients with myotonic dystrophy type 1 (DM1) have often been described, however, there are only few studies differentiating between partial performance disorders and mental retardation in common. This study focused on the evaluation of reading performance and th...

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Autores principales: Gutschmidt, K., Wenninger, S., Montagnese, F., Schoser, B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7880941/
https://www.ncbi.nlm.nih.gov/pubmed/32851461
http://dx.doi.org/10.1007/s00415-020-10161-6
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author Gutschmidt, K.
Wenninger, S.
Montagnese, F.
Schoser, B.
author_facet Gutschmidt, K.
Wenninger, S.
Montagnese, F.
Schoser, B.
author_sort Gutschmidt, K.
collection PubMed
description BACKGROUND: Cognitive impairments in patients with myotonic dystrophy type 1 (DM1) have often been described, however, there are only few studies differentiating between partial performance disorders and mental retardation in common. This study focused on the evaluation of reading performance and the frequency of dyslexia in adult DM1 patients. METHODS: We performed a prospective cohort study including genetically confirmed adult DM1 patients registered in the DM registry of Germany or the internal database of the Friedrich-Baur-Institute, Munich, Germany. For the assessment of the patients’ reading and spelling performance, we used the standardized and validated test ‚Salzburger Lese- und Rechtschreibtest‘ (SLRT II). The ‚CFT-20 R Grundintelligenztest Skala 2‘ in revised ("R") version (CFT 20-R), determining the intelligence level, was appropriate to differentiate between dyslexia and general mental retardation. The diagnosis of dyslexia, the combined reading and spelling disorder, was based on the guidelines for diagnosis and therapy of children and adolescents with dyslexia 2015 (S3-guideline) providing (1) the criterion of the divergence from age level and (2) the criterion of IQ-divergence. RESULTS: Fifty-seven DM1 patients participated in our study. Evaluating the reading performance, 16 patients fulfilled the divergence criteria of the age level and 2 patients the IQ-divergence criteria. In total, the diagnosis of a reading disorder was given in 18 DM1 patients (31.6 %). In 11 out of these 18 patients with a reading disorder, a relevant impairment of spelling performance was observed with at least three spelling errors. As there are no normative values for adults in spelling performance, we assume a combined reading disorder and dyslexia, in those 11 DM1 patients (19.3 %). Regarding the separate analyses of the test procedures, in the SLRT II the performance was below average in 40.4 % of all patients for ‘word reading’ and in 61.4 % of all patients for ‘pseudoword reading’. There was a significant positive correlation between the CTG expansion size and a reading disorder (p=0.027). The average IQ of 17 examined DM1 patients was in the lower normal range (86.1 ± 19.1). 54.5 % of patients with reading disorder had a normal IQ. CONCLUSION: The calculated prevalence of dyslexia in the DM1 study cohort was 19.3 % and thus considerably increased compared to the normal German population. As dyslexia is not equivalent to a general cognitive impairment, it is important not to miss dyslexic features in cognitive inconspicuous DM1 patients. Case-by-case one should consider a differential diagnostic approach, as individualized therapies can be offered to support dyslexic patients in their performance.
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spelling pubmed-78809412021-02-18 Dyslexia and cognitive impairment in adult patients with myotonic dystrophy type 1: a clinical prospective analysis Gutschmidt, K. Wenninger, S. Montagnese, F. Schoser, B. J Neurol Original Communication BACKGROUND: Cognitive impairments in patients with myotonic dystrophy type 1 (DM1) have often been described, however, there are only few studies differentiating between partial performance disorders and mental retardation in common. This study focused on the evaluation of reading performance and the frequency of dyslexia in adult DM1 patients. METHODS: We performed a prospective cohort study including genetically confirmed adult DM1 patients registered in the DM registry of Germany or the internal database of the Friedrich-Baur-Institute, Munich, Germany. For the assessment of the patients’ reading and spelling performance, we used the standardized and validated test ‚Salzburger Lese- und Rechtschreibtest‘ (SLRT II). The ‚CFT-20 R Grundintelligenztest Skala 2‘ in revised ("R") version (CFT 20-R), determining the intelligence level, was appropriate to differentiate between dyslexia and general mental retardation. The diagnosis of dyslexia, the combined reading and spelling disorder, was based on the guidelines for diagnosis and therapy of children and adolescents with dyslexia 2015 (S3-guideline) providing (1) the criterion of the divergence from age level and (2) the criterion of IQ-divergence. RESULTS: Fifty-seven DM1 patients participated in our study. Evaluating the reading performance, 16 patients fulfilled the divergence criteria of the age level and 2 patients the IQ-divergence criteria. In total, the diagnosis of a reading disorder was given in 18 DM1 patients (31.6 %). In 11 out of these 18 patients with a reading disorder, a relevant impairment of spelling performance was observed with at least three spelling errors. As there are no normative values for adults in spelling performance, we assume a combined reading disorder and dyslexia, in those 11 DM1 patients (19.3 %). Regarding the separate analyses of the test procedures, in the SLRT II the performance was below average in 40.4 % of all patients for ‘word reading’ and in 61.4 % of all patients for ‘pseudoword reading’. There was a significant positive correlation between the CTG expansion size and a reading disorder (p=0.027). The average IQ of 17 examined DM1 patients was in the lower normal range (86.1 ± 19.1). 54.5 % of patients with reading disorder had a normal IQ. CONCLUSION: The calculated prevalence of dyslexia in the DM1 study cohort was 19.3 % and thus considerably increased compared to the normal German population. As dyslexia is not equivalent to a general cognitive impairment, it is important not to miss dyslexic features in cognitive inconspicuous DM1 patients. Case-by-case one should consider a differential diagnostic approach, as individualized therapies can be offered to support dyslexic patients in their performance. Springer Berlin Heidelberg 2020-08-26 2021 /pmc/articles/PMC7880941/ /pubmed/32851461 http://dx.doi.org/10.1007/s00415-020-10161-6 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Original Communication
Gutschmidt, K.
Wenninger, S.
Montagnese, F.
Schoser, B.
Dyslexia and cognitive impairment in adult patients with myotonic dystrophy type 1: a clinical prospective analysis
title Dyslexia and cognitive impairment in adult patients with myotonic dystrophy type 1: a clinical prospective analysis
title_full Dyslexia and cognitive impairment in adult patients with myotonic dystrophy type 1: a clinical prospective analysis
title_fullStr Dyslexia and cognitive impairment in adult patients with myotonic dystrophy type 1: a clinical prospective analysis
title_full_unstemmed Dyslexia and cognitive impairment in adult patients with myotonic dystrophy type 1: a clinical prospective analysis
title_short Dyslexia and cognitive impairment in adult patients with myotonic dystrophy type 1: a clinical prospective analysis
title_sort dyslexia and cognitive impairment in adult patients with myotonic dystrophy type 1: a clinical prospective analysis
topic Original Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7880941/
https://www.ncbi.nlm.nih.gov/pubmed/32851461
http://dx.doi.org/10.1007/s00415-020-10161-6
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