Search

166 p., ill., APPENDIX REPORT 1 -- TABLE OF CONTENTS 1 -- APPENDIX 1. GREY LITERATURE REVIEWS 3 -- APPENDIX 1.1. SCREENED WEBSITES 3 -- APPENDIX 1.2. OVERVIEW LITERATURE 11 -- APPENDIX 2. RAPID REVIEW 27 -- APPENDIX 2.1. SEARCH STRING 28 -- APPENDIX 2.2. EXCLUDED ARTICLES BASED ON FULL-TEXT SCREENING 29 -- APPENDIX 2.3. DATA EXTRACTION FORM 31 -- APPENDIX 2.4. SUMMARY TABLE – INCLUDED STUDIES 35 -- Appendix 2.4.1. Literature based studies 35 -- Appendix 2.4.2. Quantitative studies 39 -- Appendix 2.4.3. Qualitative studies 56 -- Appendix 2.4.4. Mixed-method studies 65 -- APPENDIX 2.5. OVERVIEW OF TOPICS STUDIED PER TYPE OF METHOD 71 -- APPENDIX 2.6. SPECIFIC SCALES/ VALIDATED INSTRUMENTS FOR RARE DISEASE 78 -- APPENDIX 2.7. PROPOSED NEW INDICATORS AND RESPECTIVE SUGGESTIONS FOR PATIENT QUESTIONNAIRE 84 -- APPENDIX 3. STAKEHOLDER WORKSHOPS 86 -- APPENDIX 3.1. APPENDIX 3.1. SURVEY 86 -- Appendix 3.1.1. Appendix 3.1.1. Workshop 1 86 -- Appendix 3.1.2. Workshop 2 132 -- APPENDIX 3.2. WORKSHOP GUIDE 141 -- Appendix 3.2.1. Workshop 1 141 -- Appendix 3.2.2. Workshop 2 145 -- APPENDIX 3.3. CODE-TREE 149 -- APPENDIX 3.3.1 Stakeholder consultation 1 149 -- Appendix 3.2.3. Stakeholder consultation 2 150 -- REFERENCES 151

240 p., ill., LIST OF FIGURES 4 -- LIST OF TABLES 5 -- LIST OF ABBREVIATIONS 8 -- SCIENTIFIC REPORT 9 -- 1 INTRODUCTION 9 -- 2 DISEASE DESCRIPTION 10 -- 2.1 EPIDEMIOLOGY .10 -- 2.2 PATHOPHYSIOLOGY .10 -- 2.2.1 Symptoms 11 -- 2.2.2 Clinical course 12 -- 2.3 MORTALITY 13 -- 2.4 DIAGNOSIS 13 -- 2.5 TREATMENT .13 -- 2.5.1 Drug therapy 13 -- 2.5.2 Surgery 14 -- 2.5.3 Lifestyle changes .15 -- 2.5.4 Monitoring of treatment .16 -- 3 METHODS 16 -- 3.1 ONLINE SURVEY 16 -- 3.1.1 Data collection tool 16 -- 3.1.2 Recruitment of participants .18 -- 3.1.3 Quantitative data collection process 19 -- 3.1.4 Quantitative data analysis 19 -- 3.2 INDIVIDUAL INTERVIEWS 20 -- 3.2.1 Selection of participants 20 -- 3.2.2 Qualitative data collection tool 21 -- 3.2.3 Qualitative data collection process .21 -- 3.2.4 Qualitative data analysis 22 -- 3.3 LITERATURE REVIEW 22 -- 4 RESULTS – UNMET PATIENTS NEEDS .23 -- 4.1 DESCRIPTION OF PARTICIPANTS .24 -- 4.1.1 Surveyed participants .24 -- 4.1.2 Interviewed participants 25 -- 4.2 UNMET HEALTH NEEDS 27 -- 4.2.1 Impact on general health-related quality of life (HRQoL) .27 -- 4.2.2 Impact on physical health 30 -- 4.2.3 Impact on psychological health .38 -- 4.2.4 Impact on autonomy 42 -- 4.2.5 Impact on life expectancy 44 -- 4.3 UNMET HEALTHCARE NEEDS .45 -- 4.3.1 Effectiveness of treatment 45 -- 4.3.2 Burden of treatment 48 -- 4.3.3 Quality of care 59 -- 4.3.4 Accessibility .76 -- 4.4 UNMET SOCIAL NEEDS 79 -- 4.4.1 Impact on social life .79 -- 4.4.2 Impact on education 87 -- 4.4.3 Impact on work 88 -- 4.4.4 Financial consequences 92 -- 4.5 OTHER UNMET PATIENT NEEDS 97 -- 5 RESULTS – UNMET SOCIETAL NEEDS .99 -- 5.1 UNMET HEALTH NEEDS 99 -- 5.1.1 Frequency 99 -- 5.1.2 Transmissibility (contagiousness) 99 -- 5.1.3 Antimicrobial resistance 99 -- 5.1.4 Burden on informal caregivers 99 -- 5.2 UNMET HEALTHCARE NEEDS .99 -- 5.2.1 Value for money of standard care 99 -- 5.2.2 Preventability 99 -- 5.3 UNMET SOCIAL NEEDS .100 -- 5.3.1 Productivity losses 100 -- 5.3.2 Environm

144 p., ill., LIST OF FIGURES 4 -- LIST OF TABLES 5 -- LIST OF ABBREVIATIONS 6 -- GLOSSARY 10 --  SCIENTIFIC REPORT 11 -- 1 INTRODUCTION .11 -- 1.1 MOVING FROM A SUPPLY-DRIVEN TO A NEEDS-DRIVEN HEALTHCARE SYSTEM .11 -- 1.2 THE NEED APPROACH .13 -- 1.3 THE NEED APPROACH AS APPLICABLE TO RARE DISEASES 14 -- 1.3.1 Rare diseases and challenges in research on rare diseases 14 -- 1.3.2 Policies to incentivise research and development in rare diseases 15 -- 1.3.3 Remaining challenges related to diagnosis and care of patients with rare diseases 15 -- 2 RESEARCH QUESTIONS, AIM AND OBJECTIVES 17 -- 2.1 RESEARCH QUESTIONS .17 -- 2.2 AIM AND OBJECTIVES 17 -- 3 METHODOLOGICAL APPROACH 18 -- 3.1 GREY LITERATURE REVIEW .19 -- 3.1.1 Search strategy and screening .19 -- 3.1.2 Data extraction 19 -- 3.1.3 Data synthesis and analysis 19 -- 3.2 RAPID REVIEW 20 -- 3.2.1 Search strategy design .20 -- 3.2.2 Screening and selection 21 -- 3.2.3 Data extraction 21 -- 3.2.4 Data synthesis and analysis 21 -- 3.3 STAKEHOLDER CONSULTATIONS 21 -- 3.3.1 Sampling strategy of the stakeholder consultations 21 -- 3.3.2 Data retrieval 22 -- 3.3.3 Data analysis 22 -- 4 DEFINITIONS OF RARE DISEASES 24 -- 4.1 METHODS 24 -- 4.2 RESULTS 26 -- 4.3 DISCUSSION AND CONCLUSION 30 -- 4.3.1 Implications of the diversity of definitions among stakeholders 30 -- 4.3.2 Difficulties of the different elements of rare disease definitions 30 -- 4.3.3 Limitations 30 -- 4.3.4 Conclusion 31 -- 5 METHODOLOGICAL CHALLENGES .31 -- 5.1 METHODS 31 -- 5.1.1 Rapid Literature Review 31 -- 5.1.2 Stakeholder workshops .34 -- 5.2 RESULTS 36 -- 5.2.1 Methods to identify unmet needs in rare diseases .37 -- 5.2.2 Challenges related to rare disease research .43 -- 5.3 DISCUSSION AND CONCLUSION 56 -- 6 THE APPLICABILITY OF THE NEED ASSESSMENT FRAMEWORK IN RARE DISEASES .57 -- 6.1 METHODS 57 -- 6.2 RESULTS 57 -- 6.2.1 Patient needs .59 -- 6.2.2 Societal needs 90 -- 6.2.3 Future needs 106 -- 6.2.4 Transversal dimension: Equity 106 -- 6.3 DISCUSSION

210 p., ill., LIST OF FIGURES 5 -- LIST OF TABLES 6 -- LIST OF ABBREVIATIONS 8 -- SCIENTIFIC REPORT 10 -- 1 INTRODUCTION .10 -- 2 DISEASE DESCRIPTION 11 -- 2.1 EPIDEMIOLOGY .11 -- 2.2 PATHOPHYSIOLOGY 15 -- 2.3 MORTALITY 17 -- 2.4 DIAGNOSIS 18 -- 2.5 TREATMENT .19 -- 2.1.1 Targeted therapy 20 -- 2.1.2 Immune-based therapy .20 -- 2.1.3 Other therapies .21 -- 2.1.4 Follow-up 21 -- 3 METHODS 22 -- 3.1 ONLINE SURVEY 22 -- 3.1.1 Data collection tool 22 -- 3.1.2 Recruitment of participants .23 -- 3.1.3 Quantitative data collection process 24 -- 3.1.4 Quantitative data analysis 24 -- 3.2 INDIVIDUAL INTERVIEWS 25 -- 3.2.1 Selection of participants 25 -- 3.2.2 Qualitative data collection tool 26 -- 3.2.3 Qualitative data analysis 27 -- 3.3 LITERATURE REVIEW 27 -- 3.4 EXPERT OPINION .28 -- 4 RESULTS – UNMET PATIENTS NEEDS .29 -- 4.1 DESCRIPTION OF THE PARTICIPANTS .29 -- 4.1.1 Surveyed participants .29 -- 4.1.2 Interviewed participants 32 -- 4.2 UNMET HEALTH NEEDS 32 -- 4.1.1 Impact on general health-related quality of life .33 -- 4.2.2 Impact on physical health 36 -- 4.2.3 Impact on psychological health .41 -- 4.2.4 Impact on autonomy 47 -- 4.2.5 Impact on life expectancy 48 -- 4.2.6 Other unmet health needs 49 -- 4.3 UNMET HEALTHCARE NEEDS .49 -- 4.3.1 Effectiveness of treatment 49 -- 4.3.2 Burden of treatment 51 -- 4.3.3 Quality of care 59 -- 4.3.4 Accessibility of care .74 -- 4.4 UNMET SOCIAL NEEDS 76 -- 4.4.1 Impact on social life .76 -- 4.4.2 Impact on education 80 -- 4.4.3 Impact on work 80 -- 4.4.4 Financial consequences 82 -- 4.5 OTHER UNMET PATIENT NEEDS 84 -- 5 RESULTS – UNMET SOCIETAL NEEDS .85 -- 5.1 UNMET HEALTH NEEDS 85 -- 5.1.1 Frequency 85 -- 5.1.2 Transmissibility (contagiousness) 85 -- 5.1.3 Antimicrobial resistance 85 -- 5.1.4 Burden on informal caregivers 85 -- 5.2 UNMET HEALTHCARE NEEDS .85 -- 5.2.1 Value for money of standard care 85 -- 5.2.2 Preventability 86 -- 5.3 UNMET SOCIAL NEEDS 87 -- 5.3.1 Productivity losses 87 -- 5.3.2 Environmental impact of standard of car

Background One of the mechanisms explaining perinatal health inequalities could be inadequate antenatal care among some immigrant groups. Few European studies compared antenatal care use between different groups of immigrants taking into account individual characteristics. This research investigates the associations of three birth regions with the use of antenatal care, by also considering socioeconomic and migration-related determinants. Methods We included 879 mothers born in Belgium, North Africa, and Sub-Saharan Africa, and interviewed them in four Brussels hospitals after they gave birth, using an adapted version of the Migrant-Friendly Maternity Care Questionnaire. We additionally collected clinical data from hospital records. We carried out descriptive analyses and ran univariate and multivariable logistic regression models to estimate the associations of socioeconomic and migration characteristics with a) late start of antenatal care and b) less than minimum recommended number of consultations. Results The vast majority of women in this study had adequate care in terms of timing (93.9%), frequency of consultations (82.2%), and self-reported access (95.9%). Region of birth was an independent risk factor for late initiation of care, but not for infrequent consultations. Women born in Sub-Saharan Africa were more prone to accessing care late (OR 3.3, 95%CI 1.5- 7.7), but were not more at risk of infrequent consultations. Women born in North Africa, had similar adequacy of care compared to the Belgium-born population. The three groups also differed in terms of socioeconomic profiles and socioeconomic predictors of antenatal care use. Housing type, professional activity, and health insurance status were important predictors of both outcomes. Conclusions This study showed that the region of birth was partly associated with adequacy of care, in terms of initiation, but not number of consultations. Further dimensions of adequacy of care (content, quality) should be, SCOPUS: ar.j, info:eu-repo/semantics/published