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COGNITIVE DYSFUNCTION AND QUALITY OF LIFE IN MULTIPLE SCLEROSIS DISEASE Autori: Nelide Romeo¶, Giuseppe Tagarelli¶, Patrizia Spadafora¶, Maria Liguori* ¶ISN-CNR Cosenza *ITB INSTITUTE OF BIOMEDICAL TECHNOLOGIES-CNR Bari 1) The contents of this study refers to clinical and research work carried out at the Institute of Neurological Sciences CNR (National Research Council). Researchers study degenerative diseases of the nervous system here both from a genetic and biochemical stand point. 2) At the institute patients undergo genetic tests: DNA tests, functional magnetic resonance imaging (fMRI) and neuropsychological tests. My particular field is the study of the psychological mechanisms and evolution of cognitive functions in these pathologies. Our work contributes to the clinical diagnosis of the disease as well as the scientific research of the illness. 3) The authors of the present study are a psychologist a geneologist a biologist a neurologist 4) Multiple Sclerosis is a chronic, often disabling disease of the central nervous system. It causes destruction of myelin ( a protein that forms a protective coating around nerve cells) in the central nervous system. When myelin is destroyed signals traveling through the nerve cells are interrupted or delayed, resulting in various neurologic symptoms occurring at different locations throughout the body. Most people with MS are diagnosed between the ages of 20 and 40, but the unpredictable physical and emotional effects can be life long. MS is often characterized by a pattern of exacerbation and remission. 5) Possible symptoms include fatigue, loss of coordination, muscle weakness, spasticity, numbness, slurred speech, visual difficulties, paralysis, muscle cramps, bladder or bowel problems and sexual dysfunction. The initial symptoms of MS are most often difficulty walking, abnormal sensations such as "pins and needles", pain and loss of vision due to optic neuritis, an inflammation of the optic nerve. Less common initial symptoms may include tremor, lack of coordination, slurred speech, sudden onset of paralysis, similar to a stroke, a decline in cognitive function. 6)Few authors have specifically considered the impact of cognitive dysfunction on a patient's every-day life, rather focusing on disease-related motor disabilities. There is now abundant evidence to suggest that cognitive dysfunction has a significant impact on the MS patient's quality of life above and beyond the physical symptoms of the disease. The observation that cognitive and physical symptoms are not correlated in MS patients suggest that one cannot predict the severity of cognitive dysfunction from the neurological examination, hence the importance of neuropsychological testing. This leaves unanswered crucial questions about the natural history of intellectual decline and its relationships with the evolution of neurological impairment starting from the onset of the disease. 7) In 60 patients with MULTIPLE SCLEROSIS and in a control group matched for age, sex, and years of education we studied the presence of cognitive impairment. Patients and controls were from the same ethnic and socioeconomic backgrounds (Calabrian region , southern Italy). All patients and controls were evaluated with the Mini Mental State Examination (MMSE). It is a valid test of cognitive functions. It separates patients with cognitive disturbance from those without such disturbance. The MMSE is divided into two sections, the first of which requires only verbal responses and covers orientation (time and place), memory and attention. The second part assesses the ability to name, follow written and verbal commands, write a sentence spontaneously, and copy a complex polygon. The aim of this study was to demonstrate that in addition to the motor disabilities in MS patients a cognitive impairment can be present. 8) / 9) The results of our study showed that 11 patients had a decline in cognitive function: the prevalence of the impairment in the sample was 18%. All scores were adjusted by age and educational level in line with one of Feinstein's definitions of "range of normal". When using MMSE scores, it is important to account for age and education, especially in populations where the educational level is low. However, all of the control group had a normal score. 10) Another aspect that we considered is that many medical conditions can cause symptoms of mood alteration. This is especially true of degenerative neurological conditions. In our study group we have considered the presence of depressive symptoms through an administration of the Hamilton Scale for Depression and by means of a clinical interview. As in other literature we have noted that our patients develop a marked alteration towards a depressive state at a certain point during the course of the disease. These results seem to be particularly interesting, especially in the clinical field because our interest is not only that the disease itself is taken into consideration, but also how it interacts with the psycho-affect dimension. 11) The direct observation of our patients led to the conclusions that MS is accompanied by a deep sense of solitude during the various phases of the disease caused by the perception of being different from others, a feeling of insecurity and bouts of depression. The emotional impact that MS can have in the lives of those affected is dramatic and therefore it is important to consider their quality of life. The illness cannot be studied separately from the person himself or herself but the whole social and mental context of life should be considered as a psycho-biological unity. Freud affirmed that "The Ego is above all a bodily Ego". The image that one has of oneself is extremely important: the capacity to see oneself as being efficient and productive is essential. It is necessary to adapt one's personal and working life to the rhythms of a disease which is highly unpredictable in its development. Many studies of chronic illnesses have discovered that being active, thinking positive and expressing one's emotions are factors which contribute to a better psychological adaptation and a better quality of life. 12) A new concept on how to face MS is that of "RESILIENCE": THE CAPACITY OF HUMANS TO RESIST ADVERSE CONDITIONS in life through the activation of internal resources of a person and the surrounding environment by means of a process of adaptation and the return of adequate functioning. This activation of internal resources should, in my opinion, be encouraged through a psychological-existential path during which the illness is seen as an active and subjective experience and the person is considered globally. 13) THANKS FOR YOUR ATTENTION I wish to thank: drs. Ferdinanda Annesi* *IPCF - CNR Drs. Antonella Veltri* *ISAFOM - Cosenza - CNR

The relationship between genetic and linguistic diversification in human populations has been often explored to interpret some specific issues in human history. The Albanian-speaking minorities of Sicily and Southern Italy (Arbereshe) constitute an important portion of the ethnolinguistic variability of Italy. Their linguistic isolation from neighboring Italian populations and their documented migration history, make such minorities particularly effective for investigating the interplay between cultural, geographic and historical factors. Nevertheless, the extent of Arbereshe genetic relationships with the Balkan homeland and the Italian recipient populations has been only partially investigated. In the present study we address the genetic history of Arbereshe people by combining highly resolved analyses of Y-chromosome lineages and extensive computer simulations. A large set of slow- and fast-evolving molecular markers was typed in different Arbereshe communities from Sicily and Southern Italy (Calabria), as well as in both the putative Balkan source and Italian sink populations. Our results revealed that the considered Arbereshe groups, despite speaking closely related languages and sharing common cultural features, actually experienced diverging genetic histories. The estimated proportions of genetic admixture confirm the tight relationship of Calabrian Arbereshe with modern Albanian populations, in accordance with linguistic hypotheses. On the other hand, population stratification and/or an increased permeability of linguistic and geographic barriers may be hypothesized for Sicilian groups, to account for their partial similarity with Greek populations and their higher levels of local admixture. These processes ultimately resulted in the differential acquisition or preservation of specific paternal lineages by the present-day Arbereshe communities.European Journal of Human Genetics advance online publication, 1 July 2015; doi:10.1038/ejhg.2015.138.