Supervisors info:
Ζαλώνης Ιωάννης, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Πόταγας Κωνσταντίνος, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Ευδοκιμίδης Ιωάννης, Ομότιμος Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Summary:
Abstract: Myotonic Dystrophies (MD) are autosomal predominantly transferred multidimensional disorders that affect, besides all other, the brain. In contrast to MD Type 1 (MD1) in which cognitive impairments are often reported, the neuropsychological profile of MD Type 2 (MD2) is still insufficiently studied. The use of a single and short neuropsychological scale, capable of covering distinct cognitive domains, is considered to be of paramount importance in regards to disorders, like MD, that are followed by motor disabilities and/or intense physical fatigue. The aim of our study is the identification of neuropsychological dysfunction in Greek MD2 patients via a single yet multidomain cognitive screening scale that can be also administered in patients with mild or more severe upper limbs disabilities, such as the ones that might be observed in the course of MD2. Materials and Methods: The group of participants consisted of 11 patients, who were genetically diagnosed with MD2, and 26 healthy controls (HC) with similar demographic characteristics. All participants were administered the Edinburgh Cognitive and Behavioral ALS Screening (ECAS) scale, which includes subtests of executive functions, verbal fluency, episodic memory, language and visuospatial functions. We used ECAS total score as a measure of general cognitive status, as well as subscores for each cognitive domain. We assessed ECAS internal consistency (Cronbach’s a) and furthered examined the differences between patients and HC.
Results: We found a satisfactory measure of internal consistency (Cronbach’s a = 0.71) regarding ECAS. Based on normal values for ECAS, 73% of MD2 patients showed general cognitive impairment, which was also confirmed by the significantly reduced performance in the total score of ECAS (p < 0.001). Moreover, significant differences were highlighted in executive functions (p < 0.001), verbal fluency (p = 0.015) and memory (p = 0.015).
Conclusions: The ECAS scale seems to be a reliable, multifaceted tool in examining MD2-related cognitive impairment in everyday clinical practice and enables the identification of dysfunction in distinct cognitive domains in Greek MD2 patients (i.e. executive functions, verbal fluency and memory).
Keywords:
Myotonic dystrophy, Cognitive impairment, Everyday clinical practice, Neuropsychological assessment, ECAS
