Reproduction de : Thèse de doctorat : Linguistique : Paris 4 : 2007. / Titre provenant de l'écran titre. 308 références bibliographiques.

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Aim: The aim of this study was to investigate relatives opinions of information, interaction, support, participation and care at a hospice unit. The aim was also to investigate whether there was a difference between women and men. Method: The study is a descriptive quantitative cross-sectional study. A questionnaire with closed and open-end questions was sent out to 66 relatives to patients who had died at the hospice unit. The closed questions were analyzed with SPSS. A content analyze was used for the open-end questions. Results: The most of the relatives were fully pleased with information, interaction, support and care. Relatives were most pleased with the interaction with the staff. Almost half of the relatives had wanted to participate more in the care of the patient and they had wanted more information to be able to participate. The men were more pleased with the information than the women. There were no significant differences in the other questions. Many relatives experienced the hospice unit as good. Conclusion: The study showed that the relatives were pleased with the hospice unit though some relatives were displeased with their participation in the care of the patient. These needs to be improved and further investigation are needed.

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L’autisme est une maladie complexe, résultant de nombreux facteurs génétiques et environnementaux. Elle se manifeste par des troubles du développement : altération des interactions sociales, de la communication et ayant des comportements et répétitifs et stéréotypés. L’objectif de cette thèse est l’identification des facteurs génétiques de l’autisme avec pour but final un test génétique de diagnostic précoce. L’analyse de liaison, par cartographie directe d’IBD, dans une population de 116 familles AGRE composées de deux enfants atteints ayant un retard de langage > 36 mois, ont permis d’identifier 12 régions d’intérêts. Les études d’association et réplication (167 trios) de ces régions ont permis d’observer des associations significatives de l’autisme avec des variants génétiques des gènes : PRKCB1, PITX, NF1, MARK1, ATP2B2 et SLC6A7. L’étude des biais sur l’estimation des risques relatifs (RR) d’un SNP, associés à une maladie et en LD avec le variant causal, a montré une sous-estimation des RRs pour des risques élevés et une surestimation pour des modèles récessifs ayant des risques faibles. Le LD entre le SNP et le locus maladies induits les plus forts biais. Une méthode basée sur la probabilité rétrospective est proposé dans l’estimation des RR utilisant les haplotypes et pour de multiple locus. Cette méthode c’est montré robuste au haplotypes non-phasés et au non respect de l’équilibre d’Hardy-Weinberg dans des populations familiales. L’étude clinique du premier test de diagnostique de l’autisme a montré des valeurs AUC égales à 0.563 dans 105 cas et 91 témoins et de 0.560 dans 298 trios, ce qui ne permet pas l’utilisation d’un tel test. / Autism is a complex disease involving many genetic and environmental factors. It appears by a developmental disorder characterized by impairments in social interaction and communication associated with repetitive patterns of interest or behavior. The aim of my thesis is to study the genetics factors of autism to be able to create an early genetics diagnostic test.Linkage analysis, by direct IBD mapping, in a sample of 116 AGRE families with two affected child to involve a delay onset of speech > 36 months of age, detected 12 regions with evidence of linkage. Association and replication studies (167 trios) of these regions showed significant association between SNPs and autism located in genes: PRKCB1, PITX, NF1, MARK1, ATP2B2 and SLC6A7. The investigation of bias in estimates relative risk (RR) for SNP, associate to a disease and in LD with the causal variant, showed an overestimation of RR for larges risks and an underestimation for recessive model with small risks. The LD value between SNP and disease locus inferred the largest bias. A method based on retrospectives probabilities was proposed for estimate RR of haplotype for multi-loci. This method showed itself robust for non-phased haplotype and when Hardy-Weinberg equilibrium was not respected in family samples. Clinical studies of first early diagnostic test for autism show AUC values equal to 0.563 in 105 cases and 91 controls and 0.560 in 298 trios, it’s not possible the use of such test.

Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.

Le Mbondzi connait de nombreux processus phonologiques. Dans cette thèse nous montrons que certains d’entre eux sont liés à son système d’accord de classes qui joue un rôle important dans la formation des mots, tandis que d’autres résultent de l’assimilation de traits par les segments concernés. Nous montrons aussi que certains processus phonologiques en nourrissent d’autres à l’instar de : la chute historique d’occlusives orales en position C2 de racine qui donne lieu à une longueur vocalique provenant de la juxtaposition de deux noyaux, l’allongement compensatoire qui dépend en partie de la dissimilation consonantique des préfixes ou des morphèmes d’accord et de l’élision à la jonction entre deux mots, les règles tonales qui sont directement liées à la perte d’une more à la suite d’élision ou de formation de glides. Concernant la relation entre tonslexicaux et tons intonationels, notre point de vue est que les derniers se superposent aux premiers. Par ailleurs, nous présentons une étude des relatives, qui ont une construction possessive en Mbondzi. Nous montrons, entre autres, qu’elles sont introduites par des préfixes d’accord de type /CV/ dont le contenu segmental est déterminé par le préfixe nominal du nom précédent et qu’elles diffèrent selon que leur verbe est à l’inaccompli ou non. Enfin, nous étudions les différents types de questions partielles et leur construction, qui impliquent, entre autres, les pronoms interrogatifs "nda" (pour les humains) et "nde" (pour les non humains), des morphèmes d’accords interrogatifs déterminés par le préfixe nominal du sujet (pour les questions partielles sur le sujet) ou de l’objet (pour les questions partielles sur l’objet direct ou indirect), des adverbes pour les questions circonstancielles de manière et, des expressions interrogatives pour les questions partielles temporelles. / Mbondzi is a language involving many phonological processes. In this dissertation we show thatsome of these processes are linked to its system of class agreements which plays an importantrole in words formation while others are related to the feature assimilation of the involvedsegments. We also show that some phonological processes are fed by others such as: the historicaldrop of the oral stops in the C2 position of the root which gives rise to a long vowel resulting fromthe juxtaposition of two short vowels, the compensatory lengthening which depends both upon theconsonantal dissimilation of prefixes or agreement morphemes and upon the elision at wordsjunctures, some tonal rules that are directly related to the loss of a mora after elision or gliding.As far as the relation between lexical and intonational tones is concerned, our assumption is thatintonational tones are superimposed on lexical ones. We also provide a study of relative clauses,characterized by a possessive construction. We show that they are introduced by class agreementmorphemes of /CV/ types which are segmentally determined by the nominal prefix of thepreceding noun, and how they differ depending upon verbal aspects. Finally, we present thedifferent types of Wh-questions constructions which involve various types of morphemes, such as:interrogative Pronouns "nda" (for humans) and "nde" (for non-human), interrogative Morphemesdetermined by the nominal prefix of the subject (for Wh-questions on the subject) or of the object(for Wh-questions on direct object or indirect object), adverbs for How-questions and,interrogative expressions for temporal Wh-questions.

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Nu för tiden blir människan äldre och med det så ökar risken för att insjukna i demens. Det är en obotlig sjukdom som innefattar en grav försämring av personens minne och intellekt och som slutligen leder till döden. Sjukdomen påverkar inte bara den drabbade utan även alla i dennes omgivning. Symtomen kommer smygande, vanligt är försämrat minne, intellekt och förändrad personlighet. Många av de drabbade är nedstämda, oroliga och kan även vara aggressiva. Detta beror på att de fortfarande har kvar sina känslor och kan känna att något är fel, men de kan inte sätta fingret på vad som är fel. Vid sjukdom så är behovet av stöd oftast stort och det är sjuksköterskans ansvar att ge stöd till den som behöver. För att kunna bemöta de behov som finns behövs kunskap om hur närstående upplever sin situation. Begränsad forskning finns kring närståendes erfarenheter av demenssjukdomen, och majoriteten av forskningen är inriktad på sjukdomen och hur den påverkar hjärnan och patienten. Därför valdes en litteraturbaserad studie till examensarbetet för att belysa erfarenheter av att vara närstående till en äldre person med demenssjukdom. Detta innebär att författarna granskat 10 artiklar från vetenskapliga tidskrifter och sammanställt till ett eget resultat. Temana som bildades efter granskningen var närståendes erfarenheter av stöd och sjukdomens progression och dess effekter på relation och känslor. Det första temat fokuserar just på de närståendes erfarenheter av stöd. Både från vården och andra i samma situation. Resultatet visar att stödet från sjuksköterskan bör vara lättillgängligt och ges i tidigt skede av sjukdomen för att undvika ohälsa. Även att prata med andra i samma situationer var viktigt, många tog hjälp av stödgrupper för att få råd. Andra ville inte ha stöd från sina familjer då de inte ville lägga bördan på dem så de tog själva allt ansvar för den drabbade. Sjukdomens progression och dess effekter på relation och känslor belyser de olika problem som uppkommer under sjukdomens gång. Det förändrade beteendet hos den drabbade skapade irritation och frustration hos de närstående, till exempel när den drabbade tappade tråden i samtal eller uppträdde förvirrat. I samband med det förändrade beteendet formades en ny relation till den drabbade. Känslor av skuld och skam var närvarande för många och specifikt för makar var sorgen av att ha mist den man en gång delat livet med. / Background: Dementia not only affects the individual patient, but also healthcare professionals and the relatives. It is an increasing incurable disease that affects the mind of the afflicted person. He or she will experience difficulties with either expressing oneself, recognizing daily things, performing tasks that he or she previously were able to managed or the ability to plan, initiate or complete various tasks. Aim: The aim of this study was to illuminate experiences of being a relative of an older person afflicted of dementia. Method: A literature based study was performed, analyzing 10 qualitative articles. Results: The results consist of two main themes, relatives experiences of support, with two subthemes, support in the care relationship and support from others in the same situation. The second theme progression of the disease and its affects on relations and feelings, with three subthemes, the partners behavioral change, a new kind of relationship and impact of the disease on feelings. These highlight significant experiences the relatives go through in relation to the disease. Support was something that may be given in different ways and the need for support was necessary. The behavioral change that comes with the disease, results in a new form of relationship with the affected. Feelings of sadness, guilt and shame were constantly present. Conclusion: The results shows that the relatives need support through the entire disease progression when the behavior of the affected changes and a new relationship is formed. When accepting the disease, the relatives found it easier to deal with life in general. Nurses need to have the means to respond to these relatives and to know how they experience their situation, to be able to support them in the best possible way.

A qualitative methodology was employed to explore the narratives of clients with a diagnosis of schizophrenia. These were used to obtain a subjective perspective on the course of schizophrenia and its impact on a person's sense of self Narratives from a nominated relative provided an alternative perspective on this process and thus served to increase the validity of the findings. Research questions specifically addressed the process of making sense of the experiences over time and the role of professionals within this, the impact on sense of self and the impact on relationships with others. Semi-structured inter-views were conducted with 16 participants. These were audiotaped, transcribed then grounded theory was used to analyse the data. Results were used to build a stage model which charts the process over time. It is tentatively hypothesised that earlier vulnerabilities in the formation of self are expressed during adolescence due to the developmental need to separate from parents and develop an adult identity. Implications for clinical work and services are discussed.