Visuoconstructional impairment in DM1: exploring underlying cognitive processes through the Rey complex figure

Introduction Among the cognitive difficulties shown by myotonic dystrophy type 1 (DM1) patients, visuoconstructional impairment – specifically measured with the Rey-Osterrieth Complex Figure Test (RCFT) – is particularly notable. This study aimed to analyze the performance of DM1 patients and healthy controls (HC) in the RCFT, using different correction systems in order to explore the cognitive processes underlying the poor performance and its associations with other signs and symptoms. Methods Data from 66 DM1 patients and 68 HC were included in this study. All participants had a comprehensive neuropsychological assessment, including the RCFT, which was scored using both the traditional Osterrieth and the Boston Qualitative Scoring System (BQSS) procedures. ANCOVA and Spearman’s correlation analyses were conducted. Results DM1 Patients obtained significantly poorer scores than HC on the RCFT using both correction systems. Regarding BQSS, patients performed worse than HC in both main indexes (Copy Presence Accuracy-CPA and Organization-ORG), and specifically on scores of Configural accuracy, Planning, and Perseveration. Both main indexes – but especially CPA – showed significant and strong correlations with several clinical and cognitive variables. Conclusions Both visuoconstruction and organizational impairments underlie the poor RCFT performance in DM1. Moreover, visuoconstruction ability appears to be sensitive to the clinical hallmarks of DM1 patients. The RCFT is proposed as a gold standard in DM1 assessment and the merits of using alternative scoring systems are discussed.This work was supported by the Institute of Health Carlos III and co-funded by the European Union under Grant number PI17/01231 and PI22/01118; Basque Government under Grant number S-PE13UN030 and 2022111031; and University of the Basque Country (UPV/EHU) under Grant number PIF 20/238 and GU 20/057

Social cognition in myotonic dystrophy type 1: Specific or secondary impairment?

Aims The cognitive profile of Myotonic Dystrophy type 1 (DM1) has been described in recent decades. Moreover, DM1 patients show lowered social engagement and difficulties in social-cognitive functions. The aim of the present study is to explore whether social cognition impairment is present in DM1 taking into account the overall cognitive condition. Method 38 patients and a control group paired in age and gender participated in the study. All the participants had an IQ within the normal range. Subjects were administered an abbreviated neuropsychological battery which comprised a facial emotion recognition test (POFA) and Faux Pas Test, as well as a self-report questionnaire on cognitive and affective empathy (TECA). Results Statistically significant differences were found only for facial emotion recognition (U = 464.0, p = .006) with a moderate effect size (.31), with the controls obtaining a higher score than the patients. Analyzing each emotion separately, DM1 patients scored significantly lower than controls on the recognition of anger and disgust items. Emotion recognition did not correlate with genetic load, but did correlate negatively with age. No differences were found between patients and controls in any of the other variables related to Theory of Mind (ToM) and empathy. Conclusion DM1 does not manifest specific impairments in ToM since difficulties in this area predominantly rely on the cognitive demand of the tasks employed. However, a more basic process such as emotion recognition appears as a core deficit. The role of this deficit as a marker of aging related decline is discussed.The present study has been supported by grants of the Instituto de Salud Carlos III co-founded by Fondo Europeo de Desarrollo Regional - FEDER (Ref: PI17/01231)

Shedding light on motor premanifest myotonic dystrophy type 1: A molecular, muscular and central nervous system follow-up study

Background and purpose Myotonic dystrophy type 1 (DM1) is a hereditary and multisystemic disease that is characterized by heterogeneous manifestations. Although muscular impairment is central to DM1, a premanifest DM1 form has been proposed for those characterized by the absence of muscle signs in precursory phases. Nevertheless, subtle signs and/or symptoms related to other systems, such as the central nervous system (CNS), may emerge and progress gradually. This study aimed to validate the premanifest DM1 concept and to characterize and track affected individuals from a CNS centred perspective. Methods Retrospective data of 120 participants (23 premanifest DM1, 25 manifest DM1 and 72 healthy controls) were analysed transversally and longitudinally (over 11.17 years). Compiled data included clinical, neuropsychological and neuroradiological (brain volume and white matter lesion, WML) measures taken at two time points. Results Manifest DM1 showed significantly more molecular affectation, worse performance on neuropsychological domains, lower grey and white matter volumes and a different pattern of WMLs than premanifest DM1. The latter was slightly different from healthy controls regarding brain volume and WMLs. Additionally, daytime sleepiness and molecular expansion size explained 50% of the variance of the muscular deterioration at follow-up in premanifest individuals. Conclusions Premanifest DM1 individuals showed subtle neuroradiological alterations, which suggests CNS involvement early in the disease. Based on follow-up data, a debate emerges around the existence of a ‘non-muscular DM1’ subtype and/or a premanifest phase, as a precursory stage to other DM1 manifestations.This work was supported by the Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (Ref: 609), from the Institute of Health Carlos III co-founded by Fondo Europeo de Desarrollo Regional (PI17/01231 to A.S.; PI17/01841 to A.L.); Basque Government (S-PE13UN030 to A.S.); and University of the Basque Country (UPV/EHU) (PIF 20/238 to J.G.; GU 20/057 to J.G., G.L. and A.S.)

Small for gestational age moderate to late preterm children: a neuropsychological follow-up

[EN] Determine whether SGA constitutes a neurodevelopmental risk-factor of MLP, exploring if potential developmental difficulties at toddlerhood persist and are related to school-age performance. 109 SGA and 109 adequate for gestational age MLP children were evaluated at 2 and at 6.5 y.o. SGA children obtained poorer results in several areas at both timepoints; and their development at toddlerhood strongly correlated with only some results at school-age. SGA confers vulnerability to MLP, evolving from global/unspecific difficulties in toddlerhood to a domain-specific profile (attentional/dysexecutive) at 6.5. Findings claim the need for neuropsychological follow-up in MLP to identify emerging difficulties

White matter integrity changes and neurocognitive functioning in adult-late onset DM1: a follow-up DTI study

[EN] Myotonic Dystrophy Type 1 (DM1) is a multisystemic disease that affects gray and white matter (WM) tissues. WM changes in DM1 include increased hyperintensities and altered tract integrity distributed in a widespread manner. However, the precise temporal and spatial progression of the changes are yet undetermined. MRI data were acquired from 8 adult- and late-onset DM1 patients and 10 healthy controls (HC) at two different timepoints over 9.06 years. Fractional anisotropy (FA) and mean diffusivity (MD) variations were assessed with Tract-Based Spatial Statistics. Transversal and longitudinal intra- and intergroup analyses were conducted, along with correlation analyses with clinical and neuropsychological data. At baseline, reduced FA and increased MD values were found in patients in the uncinate, anterior-thalamic, fronto-occipital, and longitudinal tracts. At follow-up, the WM disconnection was shown to have spread from the frontal part to the rest of the tracts in the brain. Furthermore, WM lesion burden was negatively correlated with FA values, while visuo-construction and intellectual functioning were positively correlated with global and regional FA values at follow-up. DM1 patients showed a pronounced WM integrity loss over time compared to HC, with a neurodegeneration pattern that suggests a progressive anterior–posterior disconnection. The visuo-construction domain stands out as the most sensitive neuropsychological measure for WM microstructural impairment.The present study has been supported by funding from the Institute of Health Carlos III co-founded by Fondo Europeo de Desarrollo Regional-FEDER [Grant Numbers PI17/01231 and PI17/01841], CIBERNED (Grant Number: 609), the Basque Government [SAIO08-PE08BF01] and the University of the Basque Country (Neurosciences group: GIU20-057). BC was supported by a predoctoral grant from the Basque Government [PRE-2020-1-0187]. AJM was supported by a predoctoral grant from the Basque Government [PRE-2019-1-0070]. JG was supported by a predoctoral grant from the University of the Basque Country [PIF20/238]

Memoria de testigos: ¿Podemos fiarnos de su memoria?

Duración (en horas): De 31 a 40 horas . Destinatario: Estudiante y DocenteEl presente trabajo, tiene como objetivo, impulsar el autoaprendizaje para el estudio del funcionamiento de la memoria. Para ello, mediante el Aprendizaje Basado en Problemas (ABP), se contextualiza el contendio a aprender, facilitando la comprensión del alumno y aumentado su motivación e interés por el tema. En este trabajo, se presenta al alumno un problema entorno a un robo violento, y se cuestiona la fiabilidad de aquello que los testigos son capaces de recordar entorno al suceso delictivo. Este problema permite que el alumno se pregunté cómo funciona la memoria, que factores facilitan y dificultan tanto la codificación como la recuperación de la información...La experiencia que se presenta, fué valorada muy positivamente tanto por los alumnos que cursaron la asignatura ccomo por la docente; el 80% de los alumnos volvería a elegir está metodología activa de aprendizaje

Memoria de testigos: ¿Podemos fiarnos de su memoria?

Duración (en horas): De 31 a 40 horas . Destinatario: Estudiante y DocenteEl presente trabajo, tiene como objetivo, impulsar el autoaprendizaje para el estudio del funcionamiento de la memoria. Para ello, mediante el Aprendizaje Basado en Problemas (ABP), se contextualiza el contendio a aprender, facilitando la comprensión del alumno y aumentado su motivación e interés por el tema. En este trabajo, se presenta al alumno un problema entorno a un robo violento, y se cuestiona la fiabilidad de aquello que los testigos son capaces de recordar entorno al suceso delictivo. Este problema permite que el alumno se pregunté cómo funciona la memoria, que factores facilitan y dificultan tanto la codificación como la recuperación de la información...La experiencia que se presenta, fué valorada muy positivamente tanto por los alumnos que cursaron la asignatura ccomo por la docente; el 80% de los alumnos volvería a elegir está metodología activa de aprendizaje

ΤΑΚΤΙΚΗ ΣΥΝΕΔΡΙΑΣΗ ΔΗΜΟΤΙΚΟΥ ΣΥΜΒΟΥΛΙΟΥ ΤΟΜΟΣ 46/ 31_10_1946

Background Myotonic dystrophy type 1 (DM1) is an inherited multi-systemic disease involving the central nervous system (CNS) and is consequently characterized by a range of cognitive impairments. However, whether this cognitive profile progresses over time is still a matter of debate. The aim of this study was to longitudinally assess a DM1 sample, in order to compare, for the first time, this progression with that of a control group. Clinical and socio-demographic predictive factors potentially implicated in this possible decline are analysed. Method Seventy-five DM1 patients with childhood, juvenile, adult, and late-onset, and 54 control participants were re-assessed in an 11-year follow-up with a comprehensive neuropsychological battery. The analyses employed were mixed ANOVA for repeated measures to test intergroup comparisons over time and multiple linear regression for predictive variable analysis. Results Myotonic dystrophy type 1 patients significantly worsened in visuospatial/visuoconstructive abilities and visual memory compared with controls. Multiple linear regression revealed that progression of cognitive impairment measured by copy of the Rey-Osterrieth complex figure was predicted by muscular impairment, whilst on the block design test age predicted the change with a cut-off at 31 years of age. Discussion A domain-specific progressive cognitive decline was found in DM1, with visuospatial/visuoconstructive abilities showing the greatest vulnerability to the passage of time. In addition to important clinical implications, these results suggest the need for the scientific community to delve deeper into the potential mechanisms underlying early cognitive decline in this population.The present study has been supported by funding from CIBERNED (Ref: 609), from the Institute of Health Carlos III co-founded by Fondo Europeo de Desarrollo Regional-FEDER (Ref: PI17/01231 and PI17/01841), and from the Basque Government (S-PE13UN030). G. Labayru was supported by a predoctoral grant from the Basque Government (PRE_2016_1_0187)