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

Abstract

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.

Fast frequency modulation is encoded according to the listener expectations in the human subcortical auditory pathway

“…Participants were also screened for dyslexia (German SLRT-II test [97], RST-ARR [98], and rapid automatised naming (RAN) test of letters, numbers, objects, and colours [99]) and autism (Autism Spectrum Quotient; AQ [100]). All scores were within the neurotypical range (SLRT: min(max(P R words , P R pseudowords )) = 21, higher than the cut-off value of 16, following the same guidelines as [101]; RST-ARR: all P R ≥ 31, higher than the cut-off value of 16; RAN: maximum of 3 errors and RT < 36 seconds in each of the four categories; AQ: all participants AQ ≤ 31, under or equal to the cut-off value of 32).…”