Abstract
Introduction: Myotonic Dystrophy Type 1 (DM1) is an autosomal dominant genetic illness, characterized by a progressive loss of strength. Important deficits in cognitive functioning and a significant prevalence of psychiatric disorders have been previously reported.Methods:A neuropsychological and psychological assessment was carried out in 31 DM1 patients (61% males) in order to measure the cognitive functioning and explore their personality profiles. The MMSE Mini-Mental State Examination, Frontal Assessment Battery (FAB), ENB-2 Battery assessing memory (short term, long term and working memory), integration capacities, visual-spatial ability, attention (selective, divided, shifting/switching) executive functions, praxis, discrimination and logic capabilities and psychopathology Symptom Check List 90-R (SCL-90-R) were administered. The neuropsychological and psychological evaluation of DM1 patients was carried out taking into consideration the clinical parameters (CTG repeat, age at onset, disease duration, Muscular Impairment Rate Scale (MIRS), Medical Research Council Scale (MRC) and the Epworth Sleepiness Scales (EPS)).Results: Regarding psychopathology 19.4% of patients scored a moderate or high level of symptoms intensity index (GSI), 12.9% reported a high number of symptoms (PST) and 16.1% reported a high intensity level of the perceived symptoms (PSDI). Fatigue and daytime sleepiness resulted as being associated with higher levels of psychoticism (PSY). Only 1 patient reported a severe impairment in the spatial and temporal orientation, memory, language, praxis, attention and calculation. Longer disease duration was also associated with cognitive impairment evaluated through ENB-2 (p < 0.05).Discussions and Conclusions:There are indications of the utility of neuropsychological and psychological screening and support for these patients and their families due to the link between disease duration and cognitive performances. A proposal of a clinical protocol, with an illustration of a clinical case report of a family is presented.
Highlights
Myotonic Dystrophy Type 1 (DM1) is an autosomal dominant genetic illness, characterized by a progressive loss of strength
We opted for a battery containing screening tests (MMSE, for a general cognitive screening; Frontal Assessment Battery (FAB) for the assessment of the executive functions) and we decided to go for ENB-2 battery vs. WAIS, because it is validated on the Italian population and it offers the advantage of a shorter assessment time
The Clinical Psychology Unit of the IRCCS Policlinico San Donato in collaboration with the Neurology Unit has developed a battery of tests to evaluate cognitive assessment, personality traits and depression based on the results obtained by the Canadian team [26]
Summary
Myotonic Dystrophy Type 1 (DM1) is an autosomal dominant genetic illness, characterized by a progressive loss of strength. Myotonic dystrophy type 1 (DM1; OMIM #160900) is a multisystemic neuromuscular disorder, which represents the most common form of muscular dystrophy in adults [1]. Mutant transcripts contain the triplet repeats form RNA hairpins that accumulate as foci in cell nuclei [2,3,4]. These toxic transcripts are thought to sequester alternative splicing regulators leading to splicing defects that are considered the primary cause of DM1 symptoms [5]. Five main categories in which DM1 patients can be divided into have been identified by the IDMC—International Myotonic Dystrophy Consortium [6]; “congenital, childhood-onset, juvenile, adult-onset, and late onset/asymptomatic.”. Five main categories in which DM1 patients can be divided into have been identified by the IDMC—International Myotonic Dystrophy Consortium [6]; “congenital, childhood-onset, juvenile, adult-onset, and late onset/asymptomatic.” In each one of these five forms, specific clinical features and management problems are described, and there is a distinction from each other based on the prevalence of the main symptoms and apparition profiles
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