Abstract Alopecia has been suggested to be associated with coronary artery diseases (CAD). However, the mechanism underlying this association has remained unclear. The purpose of the present study was to examine the relationships between metabolic syndrome-related risk factors, cardiovascular diseases (CVD) and alopecia among Finnish population. In addition, health-related quality of life (HRQOL) was studied in respect of alopecia among both genders. The data come from the national Finrisk survey alopecia sub-study (4 066 men aged 25–74 years old) and two community samples of men and women (aged 55 and 63 years) living in the city of Oulu in 2001 and 1998, respectively. The degree of alopecia was assessed using the Norwood-Hamilton classification scale for men and the Ludwig scale for women. This study showed a high prevalence of alopecia in the general male Finnish population varying from 17% to 73% among men aged 25–74 years, and its association with CVD particularly in age-groups older than 55 years. In addition, insulin resistance, as a metabolic syndrome-related risk factor, was associated with alopecia in middle-aged men. Among men younger than 35 years, low-grade inflammation was associated with alopecia, especially combined with central obesity. Further, in middle-aged general Finnish population, obesity associated most closely with low-grade inflammation, which is in line with the findings among young men with alopecia. Compared to subjects with no alopecia, HRQOL dimension scores (RAND-36) were significantly lower in physical functioning, role limitations due to physical health and general health among women with alopecia, and in physical functioning and social functioning among men with alopecia. Regression analyses of HRQOL-related factors revealed that alopecia was associated with role limitations due to physical health in women but not in men. An association between alopecia and CVD was strengthened in this study. In addition, low-grade inflammation and insulin resistance were associated with alopecia, especially with early onset alopecia. In elderly women, alopecia seemed to be associated with morbidity in vascular diseases. In the future, recognition of the risk factors for cardiovascular disease among subjects with alopecia is a challenge for primary health care that may prevent the development of arterial diseases. / Tiivistelmä Hiustenlähdön yhteys sydän- ja verisuonisairauksiin on ollut tiedossa jo pitkään, mutta yhteyden taustalla olevat patofysiologiset mekanismit ovat edelleenkin epäselviä. Tässä väitöskirjatyössä tutkittiin hiustenlähdön yhteyksiä metaboliseen oireyhtymään ja siihen liittyviin riskitekijöihin suomalaisessa väestössä yleisesti. Lisäksi tutkittiin elämänlaadun yhteyttä hiustenlähtöön 63-vuotiailla miehillä ja naisilla. Tutkimukseen käytettiin kolmea aineistoa; kansallisen Finrisk 2002 tutkimuksen alopecia (hiustenlähtö) alaotos (4066 iältään 25–74-vuotiasta miestä) ja kaksi aineistoa Oulun kaupungista (Oulussa asuneet 55- ja 63-vuotiaat miehet ja naiset vuonna 2001 ja 1998). Hiustenlähdön laajuus määriteltiin miehillä Norwood-Hamiltonin ja naisilla Ludwigin luokitteluasteikon mukaan. Hiustenlähdön esiintyvyys suomalaisessa miesväestössä vaihteli 17 %:sta (25–34-vuotiaat) 73 %:iin (65–74-vuotiaat) ja se näytti liittyvän sydän- ja verisuonisairauksiin 55-vuotiailla ja sitä vanhemmilla miehillä. Lisäksi alentunut insuliiniherkkyys metabolisen oireyhtymän merkkinä oli yhteydessä hiustenlähtöön keski-ikäisillä miehillä. Varhain alkanut hiustenlähtö (alle 35-vuotiaat) liittyi matala-asteiseen tulehdukseen erityisesti keskivartalolihavilla kaljuuntuvilla nuorilla miehillä. Samansuuntainen tulos tuli esille myös väestötutkimuksessa 55-vuotiailla oululaisilla miehillä ja naisilla, jonka mukaan matala-asteinen tulehdus oli yhteydessä erityisesti yleiseen lihavuuteen eikä pelkästään vyötärölihavuuteen. Terveyteen liittyvän elämänlaadun osa-alueiden pisteet (RAND-36) 63-vuotialla hiustenlähdöstä kärsivillä naisilla olivat merkittävästi matalampia kolmella osa-alueella; fyysiset toiminnot, fyysisen terveydentilan aiheuttamat muutokset roolitoiminnoissa ja yleinen terveys. Samanikäisillä kaljuuntuvilla miehillä merkittävästi matalammat terveyteen liittyvät elämänlaadun osakomponentit olivat fyysisten ja sosiaalisten toimintojen alueella. Tilastollisessa regressioanalyysissä ilmeni, että hiustenlähtö selitti fyysisen terveydentilan aiheuttamia rajoituksia roolitoimintoihin erityisesti kaljuuntuvilla naisilla, mutta ei miehillä. Hiustenlähdön yhteys eri sydän- ja verisuonisairauksiin vahvistui tässä tutkimuksessa. Varhainen hiustenlähtö on ilmeisesti merkki sekä matala-asteisesta tulehduksesta että alentuneesta insuliiniherkkyydestä. Myös naisilla hiustenlähtö näyttäisi liittyvän suurempaan sairastavuuteen. Terveydenhuollon tulisi jatkossa tarkemmin paneutua sydän- ja verisuonisairauksien riskin kartoittamiseen hiustenlähdöstä kärsivien potilaiden kohdalla.

Abstract The purpose of this study was to describe and investigate the health-related quality of life of patients suffering from lower limb arteriosclerotic disease before and after treatment. In addition, patients' experiences of living with their illness were examined a year after treatment, and the costs of treatment were investigated before and after treatment. A total of 180 patients took part in the study; 64 were treated conservatively, 85 endovascularly and 31 surgically. During the study, the health-related quality of life of the patients (N = 180) was monitored at the beginning of the study and 6 and 12 months after treatment using the Nottingham Health Profile (NHP) and the 15D quality of life scale. Theme interviews were conducted with some of the patients (n = 18) a year after treatment. In addition, the costs of different treatment methods were examined using a questionnaire which mapped the patients' (n = 153) use of health and social services and the hospital's municipal billing data. The patients' (N = 180) ankle-brachial systolic blood pressure ratio (ABI) was measured at the beginning of the study and 12 months after treatment. The data were analysed using basic statistical methods and content analysis. Compared to the age-and-gender-standardised normal population, the health-related quality of life of women (n = 62) suffering from lower limb arteriosclerotic disease was significantly poorer only in the dimension of pain. Prior to treatment, men's (n = 118) health-related quality of life was significantly lower than that of other Finnish men of the same age (N = 2 126) in all the areas of the NHP scale. In addition, as measured on the 15D scale, the patients' health-related quality of life was statistically significantly poorer compared to normal population (N = 4 048). The claudication distance and the ABI index of patients treated with endovascular and surgical methods was significantly improved one year after treatment. The quality of sleep and emotional reactions of patients treated with conservative methods improved as measured on the NHP scale, while the emotional reactions and energy levels of endovascularly treated patients improved as measured on the NHP scale. The 15D scale also indicated improvement in the overall quality of life, mobility, coping with daily tasks, quality of sleep and energy levels, as well as a decrease in pain and anxiety, which in turn decreased social exclusion. One year after treatment, the NHP scale showed decreased pain and improved mobility, quality of sleep and emotional reactions in surgically treated patients, while the 15D scale indicated improvement in the overall quality of life, mobility, energy levels and quality of sleep. During content analysis, three main categories were formed based on patient experiences: struggle with the effects of the illness, pursuit of a balanced life and the use of internal resources. The direct costs of the diagnostic phase of conservative treatment were €1 625. As the treatment proceeded, the costs decreased in a statistically significant manner to €702. The direct costs of endovascular treatment were €1 522 during the diagnostic phase, increasing in a statistically significant way as the treatment proceeded to €4 579. The direct costs of the diagnostic phase of surgical treatment were €1 579, increasing to €5 608 in a statistically significant way as the treatment proceeded. The study produced an extensive and varied description of the health-related quality of life of patients suffering from lower limb arteriosclerotic disease, patients' experiences of living with the illness and the costs of different treatment methods. The new information produced in this study can be used in a multidisciplinary and multiprofessional way, particularly in improving the treatment and rehabilitation of patients suffering from arteriosclerosis of the lower extremities, and in basic and continuing nursing education. / Tiivistelmä Tämän tutkimuksen tarkoituksena oli kuvailla ja selvittää alaraajojen valtimonkovetustautia sairastavien potilaiden terveyteen liittyvää elämänlaatua ennen hoitomenetelmiä ja niiden jälkeen. Lisäksi tarkasteltiin heidän kokemuksiaan elämästä sairauden kanssa vuoden kuluttua hoitomenetelmistä ja potilaille tehtyjen hoitomenetelmien kustannuksia ennen hoitoa ja sen jälkeen. Tutkimuksessa oli yhteensä 180 potilasta, joista 64 hoidettiin konservatiivisesti, 85 endovaskulaarisin ja 31 kirurgisin hoitomenetelmin. Tutkimuksessa seurattiin potilaiden (N = 180) terveyteen liittyvää elämänlaatua Nottingham Health Profile (NHP) ja 15D-elämänlaatumittareilla tutkimuksen alussa, sekä 6 ja 12 kuukauden kuluttua hoidoista. Osalle potilaista (n = 18) tehtiin teemahaastattelu vuoden kuluttua hoidoista. Lisäksi selvitettiin eri hoitomenetelmien kustannuksia potilaiden (n = 153) terveydenhuolto- ja sosiaalipalvelujen käyttöä kartoittavalla kyselylomakkeella sekä sairaalan kuntalaskutustiedostoilla. Potilaiden (N = 180) nilkan ja olkavarren välisten systolisten verenpaineiden suhde (ABI) mitattiin tutkimuksen alussa ja 12 kuukauden kuluttua hoitomenetelmistä. Aineistojen analyyseissa käytettiin tilastollisia perusmenetelmiä sekä sisällön analyysia. Verrattuna ikä- ja sukupuolivakioituun normaaliväestöön alaraajojen valtimonkovetustautia sairastavien naisten (n = 62) terveyteen liittyvä elämänlaatu oli merkitsevästi huonompi vain kivun ulottuvuudella. Miesten (n = 118) terveyteen liittyvä elämänlaatu oli ennen hoitomenetelmiä kaikilla kuudella NHP-mittarin osa-alueella merkitsevästi huonompi kuin vastaavanikäisillä suomalaisilla miehillä (N = 2126). Potilaiden elämänlaatu oli myös 15D-mittarilla mitattuna tilastollisesti merkitsevästi huonompi kuin normaaliväestöllä (N = 4048). Vuoden päästä hoidoista endovaskulaarisilla ja kirurgisilla toimenpiteillä hoidettujen potilaiden katkokävelymatka ja ABI-indeksi parantuivat merkitsevästi. Konservatiivisesti hoidetuilla potilailla unen laatu ja tunnereaktiot parantuivat NHP-mittarilla mitattuna. Endovaskulaarisesti hoidetuilla potilailla paranivat NHP- mittarilla mitattuna tunnereaktiot ja tarmokkuus. Myös sosiaalinen eristäytyminen väheni, kun 15D- mittari osoitti paranemista yleisessä elämänlaadussa, liikkumisessa, päivittäisissä toiminnoissa selviytymisessä, unen laadussa ja energisyydessä sekä kivut ja ahdistuneisuus helpottuivat. Vuoden kuluttua kirurgisesti hoidetuilla potilailla NHP-mittari osoitti kivun vähenemistä, liikkumisen, unen laadun ja tunnereaktioiden paranemista, kun 15D-mittarilla mitattuna paranemista tapahtui yleisessä elämänlaadussa, liikkumisessa, energisyydessä ja unen laadussa. Sisällön analyysin tuloksena muodostui kolme pääkategoriaa potilaiden kokemuksista: sairauden vaikutusten kanssa kamppailua, tasapainoisen elämän tavoittelua ja sisäisten voimavarojen käyttöä. Konservatiivisen hoidon diagnosointivaiheen suorat kustannukset olivat 1 625 €. Ne laskivat tilastollisesti merkitsevästi hoidon edettyä ja olivat 702 €. Endovaskulaarisen hoidon suorat kustannukset olivat diagnosointivaiheessa 1 522 € ja ne nousivat tilastollisesti merkitsevästi hoidon edettyä ja olivat 4 579 €. Kirurgisen hoidon suorat kustannukset diagnosointivaiheessa olivat 1 579 € ja ne nousivat tilastollisesti merkitsevästi hoidon edettyä ja olivat 5 608 €. Tutkimus tuotti laajan ja monipuolisen kuvan alaraajojen valtimonkovetustautia sairastavien terveyteen liittyvästä elämänlaadusta, potilaiden kokemuksista elämästä sairauden kanssa ja hoitomenetelmien kustannuksista. Tässä tutkimuksessa tuotettua uutta tietoa voidaan hyödyntää monitieteisesti, moniammatillisesti ja erityisesti alaraajojen valtimonkovetustautia sairastavien hoidon ja kuntoutuksen kehittämisessä, sekä hoitotyön perus- ja täydennyskoulutuksessa.

La qualité de vie (QV) liée à la sclérose en plaques (SEP) a été très étudiée lors de ces dernières années et plusieurs échelles d'évaluation ont ainsi été élaborées. Cependant, peu d'échelles de QV liée à la SEP validées sont disponibles en version française, et aucune ne s'attache à évaluer spécifiquement les périodes de poussées ni les perspectives temporelles. C'est l'objet de ce travail. La première étape a permis d'élaborer une première version d'une échelle d'évaluation de la perception de la QV liée à la SEP et à ses poussées (PERSEPP) en se basant sur la réalisation d'entretiens semi-directifs auprès de patients atteints de formes rémittentes de SEP et de soignants. A partir d'une analyse de contenu thématique de l'ensemble des entretiens individuels et de groupes réalisés, des items spécifiques du concept de QV liée à la SEP et à ses poussées ont ainsi été sélectionnés afin d'élaborer l'échelle PERSEPP constituée d'un questionnaire principal et de modules complémentaires. Une étude pilote a ensuite été réalisée afin d'évaluer différents critères d'acceptabilité et de faisabilité de l'échelle PERSEPP auprès de 40 patients. A la suite de cette étape, une étude multicentrique a permis d'inclure des patients atteints de forme rémittente de SEP, en poussée ou hors poussée, et suivis à l'hôpital ou chez des neurologues libéraux. L'analyse des données recueillies auprès de 305 patients a permis de compléter plusieurs étapes nécessaires à la validation d'une échelle de QV liée à la santé et d'obtenir une version définitive de l'échelle PERSEPP. De par sa méthodologie d'élaboration, cette échelle est spécifique de la forme rémittente de SEP. / Quality of life (QoL) related to multiple sclerosis (MS) has been widely studied in recent years and several rating scales have been developed. However, few QoL scales validated in MS are available in French, and none specifically focuses on assessing periods of relapses or time perspective. This is the purpose of this work. The first step consisted in establishing a first version of a rating scale of QoL perceived in MS and its relapses (PERSEPP) based on semi-structured interviews with patients affected by relapsing-remitting forms of MS and with health care providers. From a thematic content analysis of ail individual interviews and focus groups conducted, specific items of the concept of QoL related to MS and its relapses were selected to develop the PERSEPP scale consisting of a main questionnaire and additional modules. A pilot study with 40 patients was then conducted to evaluate various criteria for acceptability and feasibility of the PERSEPP scale. Following this step, a multicenter study included patients with a relapsing-remitting form of MS, in relapse or not in relapse, and followed by hospital or private practice neurologists. Analysis of the data collected from 305 patients has enabled us to complete several steps necessary for the validation of a health­related QoL scale and obtain a final version of the PERSEPP scale. This scale is specific for relapsing­remitting form of MS due to the methodology used.

The overall aim of this thesis was to increase our understanding and knowledge of patients’ experiences of living with multiple sclerosis (MS). A mixed-method design was used, including both qualitative and quantitative methods. Thirty-one immunologically treated MS patients were randomly selected and matched with patients without immunological treatment. Matching criteria were gender, impairment, time since diagnosis and age. One patient dropped out and therefore the final sample consisted of 61 patients. All 61 were interviewed (Studies I, III and IV) and completed the 36-item Short Form health survey questionnaire (SF-36), the Subjective estimation of Quality of Life questionnaire (SQoL), the Self-reported Impairment Check-list (SIC) (Study II) and the Montgomery–Asberg Depression Rating Scale questionnaire (MADRS) (Study III). The interviews were subjected to content analysis. Initial symptoms and being diagnosed with MS were described in terms of becoming vulnerable and remaining in that vulnerability long after the diagnosis. Eventually the patients were able to manage this emotional distress and acquired strength in their illness situation (Study I). In the matched analysis, 29 pairs of patients were included after internal drop-out. There were no statistically significant differences between the treatment and control groups. Concerning the total group of 61 patients, the self-reported impairment check-list showed that they had various problems of impairment, most evident in balance and walking. The score on health-related quality of life (SF-36) was reduced, disclosing a negative influence on vitality, physical role and function. However, subjective quality of life (SQoL) was not reduced, showing that the patients estimated their well-being to be quite unaffected (Study II). Thirty-eight of the 61 patients (62%) experienced chronic sorrow (Study III). The group were not depressed in general, only four having mild symptoms of depression, revealing that chronic sorrow is a particular form of emotional distress in MS. Chronic sorrow was experienced in terms of loss of hope, loss of control over the body and loss of integrity and dignity. When the patients could not adequately manage their sorrow and lacked support, they were struggling with their vulnerability. In the successful management of MS, losses and emotional distress are managed in such a way as to enhance personal growth, appreciation and trust in life. The theoretical model of chronic sorrow facilitated the sorting of the empirical data and the linking of these data to theory, showing the usefulness of the model (Study IV).

Abstract The incidence of childhood onset type 1 diabetes in Finland has been the highest in the world for several decades. Optimal management of the disease presents a lifelong challenge to the affected individuals. Related complications are common and include an ocular pathology called diabetic retinopathy. Type 1 diabetes with its ramifications can impact on several facets of a patient’s physical and psychological well-being. This study aimed to assess the ophthalmic findings and to evaluate the characteristics of general well-being of a population-based cohort of paediatric patients with type 1 diabetes and a population-based cohort of young adults with type 1 diabetes since childhood. The prevalence and risk factors of diabetic retinopathy were assessed of the population-based paediatric cohort in the catchment area of the Northern Ostrobothnia Hospital District and these were compared to a similar paediatric cohort studied 18 years previously. There was no significant change in the overall prevalence of diabetic retinopathy (12%) during the study period. Furthermore, glycaemic balance and other risk factors of diabetic retinopathy had remained almost unchanged. A population-based cohort of young adults was evaluated in 2007 for the prevalence and severity of diabetic retinopathy. Most of the cohort subjects (94%) had developed diabetic retinopathy and in every third subject there was evidence of proliferative retinopathy. Health related quality of life was the same as that in the age- and gender-standardised control population. For the most part, the young adults with a long duration of type 1 diabetes fared equally well as the general population in the measured social aspects. However, proliferative diabetic retinopathy was associated with lower educational achievements and poorer health related quality of life as well as with a higher probability of unemployment or being pensioned. Glycaemic balance and prevalence of diabetic retinopathy have remained unchanged in paediatric cohorts for nearly two decades despite concurrent advances in care. Social well-being was mainly restricted in young adults exhibiting signs of proliferative diabetic retinopathy. The negative impact of advanced complications of type 1 diabetes already in these young adults highlights the importance of strict metabolic control to maintain overall well-being. / Tiivistelmä Lapsuusiässä alkavan tyypin 1 diabeteksen ilmaantuvuus on ollut Suomessa maailman korkein usean vuosikymmenen ajan. Hyvän hoitotasapainon ylläpitäminen on elinikäinen haaste sairastuneelle. Diabeteksen liitännäissairaudet ovat yleisiä, kuten myös silmänpohjissa todettava diabeettinen retinopatia. Tyypin 1 diabetes voi komplikaatioineen vaikuttaa laajasti potilaan fyysiseen ja psyykkiseen hyvinvointiin. Tässä tutkimuksessa pyrittiin arvioimaan silmien terveydentilaa ja yleiseen hyvinvointiin liittyviä tekijöitä tyypin 1 diabetesta sairastavien lasten sekä lapsena diabetekseen sairastuneiden nuorten aikuisten väestöpohjaisissa potilasaineistoissa. Diabeettisen retinopatian esiintyvyys ja riskitekijät tutkittiin väestöpohjaisessa lapsipotilasaineistossa Pohjois-Pohjanmaan sairaanhoitopiirin alueella ja tuloksia verrattiin vastaavaan 18 vuotta aiemmin tutkittuun potilasaineistoon. Diabeettisen retinopatian esiintyvyys (12 %) ei ollut merkittävästi muuttunut tutkimusaikana. Glykeeminen tasapaino ja muut diabeettisen retinopatian riskitekijät olivat pysyneet kohorttien välillä oleellisilta osin ennallaan. Lapsena sairastuneiden nuorten aikuisten väestöpohjaisesta potilasaineistosta arvioitiin diabeettisen retinopatian esiintyvyys ja vaikeusaste vuonna 2007. Enemmistölle potilaista (94 %) oli kehittynyt diabeettinen retinopatia ja kolmanneksella todettiin proliferatiivinen retinopatia. Terveyteen liittyvä elämänlaatu oli verrattavissa ikä- ja sukupuolivakioituun verrokkiväestöön. Sosiaalista hyvinvointia mittaavat tulokset olivat pääosin yhtäläiset muuhun väestöön verrattuna. Proliferatiivisella diabeettisella retinopatialla havaittiin kuitenkin yhteys huonompaan terveyteen liittyvään elämänlaatuun ja koulutustasoon sekä korkeampiin työttömyys- ja eläköitymislukuihin. Tutkitussa aineistossa lapsipotilaiden glykeeminen tasapaino sekä diabeettisen retinopatian esiintyvyys pysyivät ennallaan lähes kahden vuosikymmenen ajan hoitojen kehittymisestä huolimatta. Nuorten aikuisten sosiaalisessa hyvinvoinnissa esiintyi poikkeavuuksia lähinnä proliferatiivista diabeettista retinopatiaa sairastavilla. Tyypin 1 diabeteksen pitkälle edenneiden komplikaatioiden negatiivinen vaikutus jo nuorella aikuisiällä korostaa hyvän hoitotasapainon tärkeyttä yleisen elämänlaadun ylläpitämisessä.

Philosophiae Doctor - PhD / Validation of the OHIP-14 for a South African adult population using CFA resulted in a 12-item scale (OHIP-12) with excellent reliability (α =0.94), but the structural pathway varied across the socio-economic groups. The prevalence of oral pain was 19.4%, and varied significantly only across area-level SEP. Cost of care over the six months was estimated at about one billion Rand. Of those residing in the lowest SEP areas, 20.8% reported that they “did nothing” to relieve their last pain episode. Oral pain resulted in an average of two days lost per person from work/school over a six months period. The prevalence of OHIP was 16.2%. Those who had never visited a dental clinic had significantly better OHRQoL and less pain experience compared to those who previously visited a dental clinic. Both individual-level and area-level SEP were associated with OHRQoL in the bi-variate analysis, but these effects did not remain significant in multivariable-adjusted analysis. In particular, the respondents‟ race completely attenuated the effect of individual-level SEP on OHRQoL, while the experience of oral pain in the past six months completely attenuated the effect of area-level SEP on OHRQoL. Both absolute and relative inequality in oral health among the South African adult population was greater in the highest SEP areas than in the areas of lowest SEP

Les cardiopathies congénitales (CC) représentent la première cause d’anomalie malformative à la naissance. Les progrès considérables des années 80 (CEC néonatale, diagnostic prénatal) en ont modifié l’épidémiologie, avec un transfert de la mortalité de la pédiatrie à l’âge adulte. Dans ce contexte, l’évaluation de la qualité de vie liée à la santé (QdV) des enfants et adultes porteurs de CC devient un critère de jugement important, en recherche clinique comme dans les soins. Nous avons mené 4 études prospectives de QdV chez des patients avec CC: une étude chez 282 enfants de 8 à 18 ans avec CC comparés à 180 enfants contrôles; une étude sur 202 enfants avec CC corrélant QdV et VO2; une étude de QdV sur 208 adolescents et adultes porteurs d'HTAP sur CC; et une étude sur l’évolution de la QdV de 111 enfants sous AVK participant à un programme d’éducation thérapeutique. Les patients avec CC simple ont manifesté une QdV similaire à celle de la population générale. Ceux avec une cardiopathie complexe ont été préférentiellement impactés sur leur bien-être physique mais ont développé aussi des mécanismes de coping. En pédiatrie, l’évaluation de la QdV par les parents était plus péjorative mais parfois plus pertinente que celle des enfants. Nous avons mis en évidence le lien entre QdV et VO2 chez l’enfant cardiaque. Les résultats de nos travaux devraient permettre d’aider les cardiologues, cardiopédiatres et chirurgiens cardiaques dans leurs annonces diagnostiques, en particulier lors des moments cruciaux de notre sur-spécialité médico-chirurgicale: diagnostic prénatal, réanimation, transition vers l’âge adulte, prise en charge palliative d’une cardiopathie sévère. / Congenital heart diseases (CHD) are the leading cause of birth malformations. The tremendous progress since the 80’s (neonatal bypass, prenatal diagnosis) have changed the epidemiology, transferring mortality from pediatrics to adulthood. Therefore assessing the health-related quality of life (QoL) of children and adults suffering from CHD has become an important issue, in both clinical research and patients’ follow-up. We carried out 4 prospective QoL studies in patients with CHD: a study in 282 CHD children aged 8 to 18 compared with 180 controls; a study among 202 CHD children correlating their QoL scores to VO2; a QoL study among 208 adolescents and adults with PAH-CHD; and a study among 111 children in a therapeutic anticoagulation education program aiming to measure the evolution of their QoL. Patients with simple CHD showed a similar QoL to that of the control population. Those with complex heart diseases were preferentially affected in their physical well-being but also developed mechanisms of coping in other dimensions. In pediatrics, the evaluation of the QoL by parents is essential, sometimes more accurate than that of children themselves. As in previous studies in adults with heart failure, we found a significant relationship between QoL and physical performance during exercise in CHD children. The results of our work should help cardiologists, cardiac surgeons and pediatric cardiologists in their diagnostic announcement, especially during crucial moments of this medical and surgical subspecialty: prenatal diagnosis, intensive care, transition of care from adolescence to adulthood, palliative treatment of a complex CHD.

Objectif:La recherche en matière de qualité de vie va croissant. Cependant, il n'existe pas de consensus sur la définition de la qualité de vie. Le concept de qualité de vie fait l'objet d'un débat scientifique et philosophique. L'objectif de cette étude est de se demander comment une approche philosophique peut nous aider à renouveler notre compréhension du concept de Qualité de vie. Méthodes: Un état des lieux de la littérature pluridisciplinaire (philosophie [Antiquité-Epoque contemporaine] et santé publique [1977-2011]) a été conduit. Puis, nous nous sommes intéressés aux théories se rapportant aux mesures de la qualité de vie, au bonheur, satisfaction, préférences et autonomie, en identifiant les théories sous-jacentes. A l'issue de cette analyse, des attentes morales fondamentales des enfants ont été identifiées. Ces attentes morales sont des valeurs formalisées correspondant à quatre principes éthiques reconnus à l'échelle internationale, élaborés par Beauchamp et Childress, dans Les principes de l'éthique biomédicale. Ces principes constituent une plateforme consensuelle; basés sur ces principes: autonomie, bienfaisance, non-malfaisance et justice. Resultats:Les notions avec lesquelles la qualité de vie entre en interaction dans le domaine de la santé publique ne mettent pas assez l'accent sur les attentes morales des enfants. Afin d'évaluer l'applicabilité des principes éthiques dans le champ de la santé, nous avons sélectionné vingt-huit instruments de mesure de la qualité de vie. Ensuite, nous avons confronté ces instruments aux principes éthiques, afin de déterminer comment les instruments de mesures de qualité de vie explorent les attentes morales. / Aims: The number of researches on QOL is increasing. However, the QOL concept is characterized by lack of agreement and showed conceptual problems. The objective of our study is to understand how philosophy can help to renew our understanding of the QOL concept. Methods: Analytical process started with a literature review in Philosophy (Antiquity to contemporary) and Public Health (in Medline-1990-2010). Conceptualization and measurement theories of happiness, preference, satisfaction, and autonomy have been also studied in order to reveal the underlying theories. Through these concepts we have isolated patient's moral expectations. These moral expectations are formalized as values corresponding to the four ethical principles developed by Beauchamp and Childress, in The principles of biomedical ethics. These principles constitute a recognized consensual platform, based on the four international principles: autonomy, beneficence, non-maleficence and justice. Results: The Public Health approaches of QOL don't focus enough on the moral expectations of children. To assess the applicability of the principles in the field of health, we are chosen twenty-eight QOL's measurement instruments. Then, we confront these instruments to ethical principles, in order to determine how the moral expectations of children are explored. This confrontation has showed that all the instruments don't tackle the four fundamental moral expectations. Nevertheless, a change in perspective has taken place during these four decades: questionnaires made since the late 1990s put more emphasis on the four ethical principles.

The overall aim of the present thesis was to examine long-term psychological distress following cancer during adolescence and to develop a tailored psychological intervention to reduce cancer-related distress experienced by young survivors of adolescent cancer that was feasible and acceptable. Study I adopted a longitudinal design, assessing health-related quality of life (HRQOL) and symptoms of anxiety and depression among adolescents diagnosed with cancer from shortly after diagnosis (n=61) up to 10 years after diagnosis (n=28). Findings suggest that development of HRQOL and anxiety and depression is not linear and whilst the majority adjust well, a subgroup report long-term elevated distress. In Study II, experiences of cancer-related psychological distress were explored using unstructured interviews. Participants described cancer treatment as a mental challenge, felt marked and hindered by the cancer experience, and struggled with feelings of inadequacy and insecurity, existential issues, and difficulties handling emotions. Study III was a preliminary investigation of individualised cognitive behavioural therapy (CBT), alongside the identification and conceptualisation of cancer-related concerns using cognitive-behavioural theory. Significant difficulties with recruitment were encountered. Participants reported cancer-related concerns conceptualised as social avoidance, fear and avoidance of emotions and bodily symptoms, imbalance in activity, and worry and rumination. In Study IV, the acceptability and feasibility of an internet-administered CBT based self-help intervention (ICBT) for young persons diagnosed with cancer during adolescence was examined using an uncontrolled design and embedded process evaluation. The study protocol for Study IV was included in this thesis along with preliminary findings demonstrating significant difficulties with recruitment. Overall, findings suggest that whilst the majority of survivors of adolescent cancer adjust well over time a subgroup report elevated levels of distress and a range of distressing cancer-related experiences. A number of cancer-related difficulties were identified in Study II and III, which may be used to inform the development of future psychological treatments for the population. Preliminary investigation of the psychological interventions examined within this thesis further highlights the need for future development work to enhance the feasibility and acceptability of psychological support for the population.

The concept of health-related quality of life (HRQoL) had been used as a patient reported outcome measure in healthcare settings. It has been conceptualised and measured using validated instruments in the Western scientific community. However, in the Saudi literature, the true meaning of this concept is still lacking. The aim of this study is to explore the gap in literature and define the concept of HRQoL, identify its key domains and conceptualise it as perceived specifically by patients with renal failure and undergoing haemodialysis in Saudi Arabia. This PhD included two strands, an empirical qualitative study and a critical analysis of the HRQoL concept and its measurement in the Western as well as the Saudi literature. Using qualitative research methods, the empirical study was conducted in one centre in the Eastern Region of Saudi Arabia. Twenty two In-depth qualitative interviews were conducted in the Arabic language, recorded, transcribed and translated into English. Thematic analysis was performed to analyse the data as the transcripts were coded, the categories identified and the themes generated. The conceptual analysis of HRQoL was carried out after the review of the Western literature on the quality of life (QoL) conceptual models and the measuring instruments used in renal literature. Systematic review of the Saudi HRQoL literature was performed as well to understand the meaning and methods of measurement of the concept of HRQoL. The conceptual analysis of HRQoL revealed that the concept is poorly defined in the Saudi literature; its measurement was based on instruments that are not culturally-adapted. Hence the findings are subjected to questions of validity and reliability. The QoL conceptual models have been developing in the Western literature as well as measuring instruments for patients with renal failure. However, the adoption of these models or instruments is critical due to social, cultural and religious variations between Saudi Arabia and the Western societies. Seven themes defining HRQoL emerged from the qualitative data; these reflected the subjectivity of the concept. The domains of HRQoL were the physiological, social, psychological, religious and vocational domains. Each of those domains was defined by determinants that affect other domains and the overall HRQoL. These were synthesised into a single definition, which incorporated all five domains. A model of HRQoL of patients undergoing haemodialysis in Saudi Arabia was developed explaining the relationship between the key domains and HRQoL. Healthcare services were discussed as a factor that affects the health status of patients and plays an indirect role in the life quality of this patient group. Hence it was considered as a factor rather than a domain. This study, including the conceptual analysis and the empirical study, illustrates that the concept of HRQoL is highly individual and is affected by the views of individuals living in a specific culture. Additionally, it is affected by the social, cultural and religious backgrounds of those individuals. The conceptualisation of HRQoL in this study was almost similar to the Western conceptualisation, however, the relationships between the key domains of HRQoL and their determinants differed. The social and religious domains were highly influenced by the Arabic culture and the Islamic religion. HRQoL in patients with ESRD in the Eastern Region of Saudi Arabia has a different meaning and conceptualisation from that seen in comparable Western literature. The assessment of HRQoL of patients with renal failure and on haemodialysis in Saudi Arabia requires a culturally-adapted instrument. This would ensure valid and reliable results that could be used in decision-making and the planning of care.