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Tesi etd-02162016-164657


Tipo di tesi
Tesi di dottorato di ricerca
Autore
BALDANZI, SIGRID
URN
etd-02162016-164657
Titolo
Structural and functional correlates of cognitive-behavioural disturbances in Steinert’s Disease: an analysis of higher cortical processes of self-awareness
Settore scientifico disciplinare
MED/26
Corso di studi
NEUROSCIENZE E SCIENZE ENDOCRINOMETABOLICHE
Relatori
tutor Prof. Siciliano, Gabriele
Parole chiave
  • MRI
  • cognition
  • central nervous system
  • myotonic dystrophy
Data inizio appello
03/03/2016
Consultabilità
Non consultabile
Data di rilascio
03/03/2019
Riassunto
Lack of insight or unawareness of disease could be a typical feature in myotonic dystrophy type 1 (DM1) patients’ behavioural profile. This phenomenon, still poorly understood, could have a possible association with previously described dysexecutive-like symptoms in this disease.
The aim of this work was to systematically analyze cognitive and behavioural dysfunctions in adult onset DM1 patients sample by using a multidimensional approach (clinical, psychological and cognitive). We used a structured assessment of quality of life in patients and their caregivers, we made a comparison between the two groups answers and we verified wich is the role of putative specific alterations in DM1 patients cognition in determining unawareness of self-related processes. Another aim of the present work was to assess the morphological and functional neuroimaging profile in the same patients, since the knowledge of the exact distribution of neuronal loss may facilitate morphological-functional brain imaging correlations with the cognitive and behavioural changes.
Overall, our findings seem to be coherent with the already existing literature. A high percentage of patients has reduced disease awareness, with statistically significant associations with neuropsychological impairments in frontal and visuo-spatial domains. Brain MRI revealed typical patterns of white matter lesions and wide gray matter atrophy, in particular cortical atrophy with parieto-fronto-temporal distribution fitting neuropsychological profile.
What’s new in the present data is how functional assessment by magnetic resonance imaging (MRI) indicates a reduced activation of cortical midlines structures in DM1 patients affected by anosognosia.
Collectively, our findings suggest a clinical protocol to capture disease awareness disturbances in DM1. Functional brain imaging techniques, coupled with measures of neuropsychological functioning, may ultimately give a better understanding of the underlying neuroanatomic of awareness disturbances. We believe that a deep knowledge of these aspects can give additional tool for medical practice in the management of DM1, as well as for guidance in occupational and social interventions, definition of outcome measures and in trial readiness.
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