The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism.
Albinism
Daily life
Disability adjustment
Dyadic functioning
Qualitative research
Rare diseases
Systemic approach
Visual impairment
Journal
BMC medicine
ISSN: 1741-7015
Titre abrégé: BMC Med
Pays: England
ID NLM: 101190723
Informations de publication
Date de publication:
29 Jan 2024
29 Jan 2024
Historique:
received:
25
07
2023
accepted:
09
01
2024
medline:
29
1
2024
pubmed:
29
1
2024
entrez:
28
1
2024
Statut:
epublish
Résumé
To date, almost no research on the psychosocial implications of albinism has been conducted in France and an exploration of albinism-related experiences could be beneficial, in order to better understand this condition. The aim of this study was to examine how French people with albinism and their parents live with and adapt to this condition in all the areas of their lives. Semi-structured phone interviews were conducted with 9 parent-child dyads, each participating separately. Participants were recruited by convenience sampling, thanks to the combined efforts of a patient association (Genespoir) and professionals from the partner medical referral centers involved in the project. Dyads in which the individual with albinism had any comorbidity were excluded. The interviews were then transcribed and subjected to in-depth thematic analysis. Two codebooks were constructed in a mirrored process: one for people with albinism; the other for their parents. They were finally merged at the end of the coding step. Four main categories were identified: personal perceptions and social representations of albinism, difficulties and obstacles encountered by people with albinism, resources and facilitators, and the importance of parent-child functioning. The results indicated that experiences of stigmatization during childhood and adolescence are common and that people with albinism face challenges in adapting to certain obstacles related to their visual impairments (VI) (e.g., inability to drive a car; eye strain...). Parents emerged as one, if not as the main, source of support for people with albinism throughout their development. Although external support systems exist to assist them in various aspects of their lives, some of them primarily rely on their own personal resources to cope. This research highlights the importance of a systemic and transdisciplinary approach to make sure families receive the support that best meets their needs.
Sections du résumé
BACKGROUND
BACKGROUND
To date, almost no research on the psychosocial implications of albinism has been conducted in France and an exploration of albinism-related experiences could be beneficial, in order to better understand this condition. The aim of this study was to examine how French people with albinism and their parents live with and adapt to this condition in all the areas of their lives.
METHODS
METHODS
Semi-structured phone interviews were conducted with 9 parent-child dyads, each participating separately. Participants were recruited by convenience sampling, thanks to the combined efforts of a patient association (Genespoir) and professionals from the partner medical referral centers involved in the project. Dyads in which the individual with albinism had any comorbidity were excluded. The interviews were then transcribed and subjected to in-depth thematic analysis. Two codebooks were constructed in a mirrored process: one for people with albinism; the other for their parents. They were finally merged at the end of the coding step.
RESULTS
RESULTS
Four main categories were identified: personal perceptions and social representations of albinism, difficulties and obstacles encountered by people with albinism, resources and facilitators, and the importance of parent-child functioning. The results indicated that experiences of stigmatization during childhood and adolescence are common and that people with albinism face challenges in adapting to certain obstacles related to their visual impairments (VI) (e.g., inability to drive a car; eye strain...). Parents emerged as one, if not as the main, source of support for people with albinism throughout their development. Although external support systems exist to assist them in various aspects of their lives, some of them primarily rely on their own personal resources to cope.
CONCLUSIONS
CONCLUSIONS
This research highlights the importance of a systemic and transdisciplinary approach to make sure families receive the support that best meets their needs.
Identifiants
pubmed: 38281904
doi: 10.1186/s12916-024-03251-z
pii: 10.1186/s12916-024-03251-z
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
40Informations de copyright
© 2024. The Author(s).
Références
Lasseaux E, Neveu MM, Fiore M, Morice-Picard F, Arveiler B. Albinism. In: Black GCM, Ashworth JL, Sergouniotis PI, editors. Clinical ophthalmic genetics and genomics. San Diego, CA: Academic Press; 2022. p. 393–402 ISBN 978-0128139448.
doi: 10.1016/B978-0-12-813944-8.00018-4
Pennamen P, Tingaud-Sequeira A, Gazova I, Keighren M, McKie L, Marlin S, Gherbi Halem S, Kaplan J, Delevoye C, Lacombe D, Plaisant C, Michaud V, Lasseaux E, Javerzat S, Jackson I, Arveiler B. Dopachrome tautomerase variants in patients with oculocutaneous albinism. Genet Med. 2021;23(3):479–87. https://doi.org/10.1038/s41436-020-00997-8 .
doi: 10.1038/s41436-020-00997-8
pubmed: 33100333
Pennamen P, Le L, Tingaud-Sequeira A, Fiore M, Bauters A, Van Duong Béatrice N, Coste V, Bordet JC, Plaisant C, Diallo M, Michaud V, Trimouille A, Lacombe D, Lasseaux E, Delevoye C, Morice-Picard F, Delobel B, Marks MS, Arveiler B. BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome. Genet Med. 2020;22(10):1613–22. https://doi.org/10.1038/s41436-020-0867-5 .
doi: 10.1038/s41436-020-0867-5
pubmed: 32565547
pmcid: 7529931
Lasseaux E, Plaisant C, Michaud V, Pennamen P, Trimouille A, Gaston L, Monfermé S, Lacombe D, Rooryck C, Morice-Picard F, Arveiler B. Molecular characterization of a series of 990 index patients with albinism. Pigment Cell Melanoma Res. 2018;31(4):466–74. https://doi.org/10.1111/pcmr.12688 .
doi: 10.1111/pcmr.12688
pubmed: 29345414
Mauri L, Manfredini E, Del Longo A, Veniani E, Scarcello M, Terrana R, Radaelli AE, Calò D, Mingoia G, Rossetti A, Marsico G, Mazza M, Gesu GP, Cristina Patrosso M, Penco S, Piozzi E, Primignani P. Clinical evaluation and molecular screening of a large consecutive series of albino patients. J Hum Genet. 2017;62(2):277–90. https://doi.org/10.1038/jhg.2016.123 .
doi: 10.1038/jhg.2016.123
pubmed: 27734839
Wei A, Zhang T, Yuan Y, Qi Z, Bai D, Zhang Y, Zhang Y, Liu T, Huang Q, Yang X, Li W. Spectrum analysis of albinism genes in a large cohort of Chinese index patients. J Invest Dermatol. 2022;142(6):1752–5. https://doi.org/10.1016/j.jid.2021.11.014 .
doi: 10.1016/j.jid.2021.11.014
pubmed: 34838614
Estrada-Hernández N, Harper DC. Research on psychological and personal aspects of albinism: a critical review. Rehabil Psychol. 2007;52(3):263–71. https://doi.org/10.1037/0090-5550.52.3.263 .
doi: 10.1037/0090-5550.52.3.263
Kajiru I, Nyimbi I. The Impact of Myths, Superstition and harmful cultural beliefs against albinism in Tanzania: a human rights perspective. Potchefstroom Electron Law J. 2020;23:1–27. https://doi.org/10.17159/1727-3781/2020/v23i0a8793 .
doi: 10.17159/1727-3781/2020/v23i0a8793
Gold ME, He H. A journey of success: an African American woman with oculocutaneous albinism. J Vis Impair Blind. 2018;112(6):772–6. https://doi.org/10.1177/0145482X1811200613 .
doi: 10.1177/0145482X1811200613
Laubscher M. Laws against strikes – the South African experience in an international and comparative perspective (with corrigendum). Potchefstroom Electron Law J. 2018;21:1–4. https://doi.org/10.17159/1727-3781/2018/v21i0a3222 .
doi: 10.17159/1727-3781/2018/v21i0a3222
Ndlovu I. Writing in and about prison, childhood albinism and human temporality in The Book of Memory. J Lit Stud. 2018;34(4):33–47. https://doi.org/10.1080/02564718.2018.1538077 .
doi: 10.1080/02564718.2018.1538077
Imafidon E. Dealing with the other between the ethical and the moral: albinism on the African continent. Theor Med Bioeth. 2017;38(2):163–77. https://doi.org/10.1007/s11017-017-9403-2 .
doi: 10.1007/s11017-017-9403-2
pubmed: 28299591
Brocco G. Albinism, stigma, subjectivity and global-local discourses in Tanzania. Anthropol Med. 2016;23(3):229–43. https://doi.org/10.1080/13648470.2016.1184009 .
doi: 10.1080/13648470.2016.1184009
pubmed: 27354179
pmcid: 5351792
Brocco G. Labeling albinism: language and discourse surrounding people with albinism in Tanzania. Disabil Soc. 2015;30(8):1143–57. https://doi.org/10.1080/09687599.2015.1075869 .
doi: 10.1080/09687599.2015.1075869
Uromi S. Violence against persons with albinism and older women: Tackling withcraft accusation in Tanzania. Int J Educ Res. 2014;2(6):323–38 ISSN 2201-6740.
Tanner R. Ideology and the killing of albinos in Tanzania: a study in cultural relativities. Anthropologist. 2010;12(4):229–36. https://doi.org/10.1080/09720073.2010.11891161 .
doi: 10.1080/09720073.2010.11891161
Kromberg JG, Zwane EM, Jenkins T. The response of black mothers to the birth of an albino infant. Am J Dis Child. 1987;141(8):911–6. https://doi.org/10.1001/archpedi.1987.04460080097038 .
doi: 10.1001/archpedi.1987.04460080097038
pubmed: 3631026
Corn AL, Lusk KE. An analysis of parents’ reports on educational services for their children with albinism. J Vis Impair Blind. 2018;112(6):667–82. https://doi.org/10.1177/0145482X1811200603 .
doi: 10.1177/0145482X1811200603
Corn AL, Lusk KE. Reports from parents about medical and low vision services for their children with albinism: an analysis. J Vis Impair Blind. 2018;112(6):655–66. https://doi.org/10.1177/0145482X1811200602 .
doi: 10.1177/0145482X1811200602
Lund PM, Gaigher R. A health intervention programme for children with albinism at a special school in South Africa. Health Educ Res. 2002;17(3):365–72. https://doi.org/10.1093/her/17.3.365 .
doi: 10.1093/her/17.3.365
pubmed: 12120851
Lund PM. Health and education of children with albinism in Zimbabwe. Health Educ Res. 2001;16(1):1–7. https://doi.org/10.1093/her/16.1.1 .
doi: 10.1093/her/16.1.1
pubmed: 11252280
Ashley JR, Cates DL. Albinism: educational techniques for parents and teachers. REview Rehab Educ Blind Vis Impair. 1992;24(3):127–32.
De Groot T, Meurs P, Jacquet W. The effect of contact interventions on the stigma of people with albinism in Tanzania. J Vis Impair Blind. 2019;113(5):464–9. https://doi.org/10.1177/0145482X19874188 .
doi: 10.1177/0145482X19874188
Vander Kolk CJ, Bright BC. Albinism: a survey of attitudes and behavior. J Vis Impair Blind. 1983;77(2):49–51. https://doi.org/10.1177/0145482X8307700201 .
doi: 10.1177/0145482X8307700201
Palmer C. Myths, stereotypes and self-perception: the impact of albinism on self-esteem. Br J Vis Impair. 2007;25(2):144–54. https://doi.org/10.1177/0264619607075998 .
doi: 10.1177/0264619607075998
Anshelevich EE, Mosojane KI, Kenosi L, Nkomazana O, Williams VL. Factors affecting quality of life for people living with albinism in Botswana. Dermatol Clin. 2021;39(1):129–45. https://doi.org/10.1016/j.det.2020.08.012 .
doi: 10.1016/j.det.2020.08.012
pubmed: 33228856
Aborisade RA. “Why always me?”: childhood experiences of family violence and prejudicial treatment against people living with albinism in Nigeria. J Fam Viol. 2021;36(8):1081–94. https://doi.org/10.1007/s10896-021-00264-7 .
doi: 10.1007/s10896-021-00264-7
Tambala-Kaliati T, Adomako EB, Frimpong-Manso K. Living with albinism in an African community: exploring the challenges of persons with albinism in Lilongwe District. Malawi Heliyon. 2021. https://doi.org/10.1016/j.heliyon.2021.e07034 .
doi: 10.1016/j.heliyon.2021.e07034
pubmed: 34136675
Chu B, Maranga A, Mosojane KI, Allen-Taylor L, Ralethaka M, Ngubula JC, et al. Sociodemographic features of a cohort of people living with albinism in Botswana. JAAD Int. 2021;2:153–63. https://doi.org/10.1016/j.jdin.2020.12.002 .
doi: 10.1016/j.jdin.2020.12.002
pubmed: 34409362
pmcid: 8362310
Huang M, Chen L, Hung S, Puthussery S. Women’s experiences of living with albinism in Taiwan and perspectives on reproductive decision making: a qualitative study. Disabil Soc. 2020;37(6):916–32. https://doi.org/10.1080/09687599.2020.1867071 .
doi: 10.1080/09687599.2020.1867071
Affram AA, Teye-Kwadjo E, Gyasi-Gyamerah AA. Influence of social stigma on subjective well-being of persons with albinism in Ghana. J Community Appl Soc Psychol. 2019;29(4):323–35. https://doi.org/10.1002/casp.2403 .
doi: 10.1002/casp.2403
Dapi LN, Tambe BA, Monebenimp F. Myths surrounding albinism and struggles of persons with albinism to achieve human rights in Yaoundé. Cameroon J Hum Rights Soc Work. 2018;3(1):11–6. https://doi.org/10.1007/s41134-018-0048-5 .
doi: 10.1007/s41134-018-0048-5
Estrada-Hernandez N. Psychosocial aspects of physical difference: the experiences of eight adults with albinism in Puerto Rico. J Vis Impair Blind. 2018;112(6):701–12. https://doi.org/10.1177/0145482X1811200605 .
doi: 10.1177/0145482X1811200605
Ojedokun IM. Effects of stigmatisation on psychosocial and health well-being of people living with albinism in south-west Nigeria. Afr J Soc Work. 2018;8(1):31–8 ISSN 2409-5605.
Christensen S, Wagner L, Coleman MM, Appell D. The lived experience of having a rare medical disorder: Hermansky-Pudlak syndrome. Chronic Illn. 2017;13(1):62–72. https://doi.org/10.1177/1742395316655854 .
doi: 10.1177/1742395316655854
pubmed: 27358286
Attama CM, Uwakwe R, Onyeama GM, Igwe MN. Psychiatric morbidity among subjects with leprosy and albinism in South East Nigeria: a comparative study. Ann Med Health Sci Res. 2015;5(3):197–204. https://doi.org/10.4103/2141-9248.157503 .
doi: 10.4103/2141-9248.157503
pubmed: 26097762
pmcid: 4455010
Maia M, Volpini BMF, dos Santos GA, Rujula MJP. Quality of life in patients with oculocutaneous albinism. An Bras Dermatol. 2015;90(4):513–7. https://doi.org/10.1590/abd1806-4841.20153498 .
doi: 10.1590/abd1806-4841.20153498
pubmed: 26375220
pmcid: 4560540
Phatoli R, Bila N, Ross E. Being black in a white skin: beliefs and stereotypes around albinism at a South African university. Afr J Disabil. 2015;4(1):106. https://doi.org/10.4102/ajod.v4i1.106 .
doi: 10.4102/ajod.v4i1.106
pubmed: 28730019
pmcid: 5433467
Ajose FOA, Parker RA, Merrall ELC, Adewuya AO, Zachariah MP. Quantification and comparison of psychiatric distress in African patients with albinism and vitiligo: a 5-year prospective study. J Eur Acad Dermatol Venereol. 2014;28(7):925–32. https://doi.org/10.1111/jdv.12216 .
doi: 10.1111/jdv.12216
pubmed: 23875952
Pooe-Monyemore MBJ, Mavundla TR, Christianson AL. The experience of people with oculocutaneous albinism. Health SA Gesondheid. 2012. https://doi.org/10.4102/hsag.v17i1.592 .
doi: 10.4102/hsag.v17i1.592
Morice-Picard F, Taïeb C, Marti A, Gliksohn A, Bennani M, Bodemer C, Ezzedine K. Filière Maladies Rares en Dermatologie: FIMARAD. Burden of albinism: development and validation of a burden assessment tool. Orphanet J Rare Dis. 2018;13(1):162. https://doi.org/10.1186/s13023-018-0894-3 .
doi: 10.1186/s13023-018-0894-3
pubmed: 30227882
pmcid: 6145119
Dufresne H, Compain S, de Longcamp A, Morice-Picard F, Deladrière E, Bekel L, et al. Co-construction d’un programme d’éducation thérapeutique dédié à l’albinisme. Ann Dermatol Venereol. 2020;147(12):A272-3. https://doi.org/10.1016/j.annder.2020.09.389 .
doi: 10.1016/j.annder.2020.09.389
Iacolinoa C, Pellerone M, Pacea U, Ramacia T, Castorina V. Family functioning and disability: a study on Italian parents with disabled children. EpSBS. 2016. https://doi.org/10.15405/epsbs.2016.05.5 .
Lewandowski AS, Palermo TM, Stinson J, Handley S, Chambers CT. Systematic review of family functioning in families of children and adolescents with chronic pain. J Pain. 2010;11(11):1027–38. https://doi.org/10.1016/j.jpain.2010.04.005 .
doi: 10.1016/j.jpain.2010.04.005
pubmed: 21055709
pmcid: 2993004
Shogren KA, Turnbull AP. Promoting self-determination in young children with disabilities. Infants Young Child. 2006;19(4):338–52. https://doi.org/10.1097/00001163-200610000-00006 .
doi: 10.1097/00001163-200610000-00006
Elkaïm M. Panorama des thérapies familiales. Paris: Seuil; 1995. ISBN 2020218038.
Erikson EH. The life cycle completed: a review. New York: Norton; 1982. ISBN 978-0393317725.
Watzlawick P, Beavin JH, Jackson DD. Pragmatics of human communication: a study of interactional patterns, pathologies and paradoxes. New York: Norton; 1967. ISBN 978-0393707076.
McDaniel SH, Doherty WJ, Hepworth J. Medical family therapy and integrated care. 2nd ed. Washington, D.C., DC: American Psychological Association; 2014. ISBN 978-1433815188.
Minuchin S. Families and family therapy. London, England: Harvard University Press; 1974. ISBN 978-0674292369.
Bodenmann G. Dyadic coping: a systemic-transactional view of stress and coping among couples: theory and empirical findings. Eur Rev Appl Psychol. 1997;47(2):137–41.
Manning J, Kunkel A. Qualitative approaches to dyadic data analyses in family communication research: an invited essay. J Fam Commun. 2015;15(3):185–92. https://doi.org/10.1080/15267431.2015.1043434 .
doi: 10.1080/15267431.2015.1043434
Gmelch S, Bodenmann G, Meuwly N, Ledermann T, Steffen-Sozinova O, Striegl K. Dyadisches Coping Inventar (DCI): Ein Fragebogen zur Erfassung des partnerschaftlichen Umgangs mit Stress [Dyadic Coping Inventory (DCI): a questionnaire assessing dyadic coping in couples]. Zeitschrift fuer Familienforschung. 2008;20:185–203. https://doi.org/10.20377/jfr-264 .
doi: 10.20377/jfr-264
Kenny DA, Ledermann T. Detecting, measuring, and testing dyadic patterns in the actor-partner interdependence model. J Fam Psychol. 2010;24(3):359–66. https://doi.org/10.1037/a0019651 .
doi: 10.1037/a0019651
pubmed: 20545409
Kenny DA, Kashy DA, Cook WL. Dyadic data analysis. Guilford Press, New York, NY US; 2006. ISBN 978-1572309869.
Untas A, Koleck M, Rascle N, Bruchon-Schweitzer M. Du modèle transactionnel à une approche dyadique en psychologie de la santé [From the transactional model to a dyadic approach in health psychology]. Psychol Francaise. 2012;57(2):97–110. https://doi.org/10.1016/j.psfr.2012.03.004 .
doi: 10.1016/j.psfr.2012.03.004
Untas A, Quintard B, Koleck M, Borteyrou X, Azencot A. Impact de la gestion dyadique du stress sur l’ajustement à une reconstruction mammaire différée après cancer. Ann Med Psychol (Paris). 2009;167(2):134–41. https://doi.org/10.1016/j.amp.2006.11.004 .
doi: 10.1016/j.amp.2006.11.004
Karademas EC, Giannousi Z. Representations of control and psychological symptoms in couples dealing with cancer: a dyadic-regulation approach. Psychol Health. 2013;28(1):67–83. https://doi.org/10.1080/08870446.2012.713954 .
doi: 10.1080/08870446.2012.713954
pubmed: 22891688
Milbury K, Badr H, Fossella F, Pisters KM, Carmack CL. Longitudinal associations between caregiver burden and patient and spouse distress in couples coping with lung cancer. Support Care Cancer. 2013;21(9):2371–9. https://doi.org/10.1007/s00520-013-1795-6 .
doi: 10.1007/s00520-013-1795-6
pubmed: 23546537
pmcid: 4428561
Milbury K, Badr H, Carmack CL. The role of blame in the psychosocial adjustment of couples coping with lung cancer. Ann Behav Med. 2012;44(3):331–40. https://doi.org/10.1007/s12160-012-9402-5 .
doi: 10.1007/s12160-012-9402-5
pubmed: 22893024
Bronfenbrenner U. The ecology of human development. Cambridge, MA: Harvard University Press; 1979. ISBN 0-674-22456-6.
Bronfenbrenner U. Ecology of the family as a context for human development: research perspectives. Dev Psychol. 1986;22(6):723–42. https://doi.org/10.1037/0012-1649.22.6.723 .
doi: 10.1037/0012-1649.22.6.723
Paillé, P. & Mucchielli, A. (2021). Chapitre 12. L’analyse thématique. In: P. Paillé & A. Mucchielli (Dir), L'analyse qualitative en sciences humaines et sociales (pp. 269-357). Paris: Armand Colin. ISBN 978-2200624019.
O’Connor C, Joffe H. Intercoder reliability in qualitative research: debates and practical guidelines. Int J Qual Methods. 2020;19:1–13. https://doi.org/10.1177/1609406919899220 .
doi: 10.1177/1609406919899220
Santiago-DelefosseM Del Rio, Carral M. Les méthodes qualitatives en psychologie et scienceshumaines de la santé. Paris, France: Dunod; 2017. ISBN 978-2100742301.
Guest G, Bunce A, Johnson L. How many interviews are enough?: an experiment with data saturation and variability. Field Methods. 2006;18(1):59–82. https://doi.org/10.1177/1525822X05279903 .
doi: 10.1177/1525822X05279903
Thomas DR. A general inductive approach for analyzing qualitative evaluation data. Am J Eval. 2006;27(2):237–46. https://doi.org/10.1177/1098214005283748 .
doi: 10.1177/1098214005283748
Abric J. Méthodes d’étude des représentations sociales. Érès; 2005. ISBN 978-2749228211.
Fournier H, Calcagni N, Morice-Picard F, Quintard B. Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review. Orphanet J Rare Dis. 2023;18(1):39. https://doi.org/10.1186/s13023-023-02629-1 .
doi: 10.1186/s13023-023-02629-1
pubmed: 36823650
pmcid: 9951542
Mira T, Costa AM, Jacinto M, Diz S, Monteiro D, Rodrigues F, et al. Well-being, resilience and social support of athletes with disabilities: a systematic review. Behav Sci (Basel). 2023;13(5):389. https://doi.org/10.3390/bs13050389 .
doi: 10.3390/bs13050389
pubmed: 37232625
Tough H, Siegrist J, Fekete C. Social relationships, mental health and wellbeing in physical disability: a systematic review. BMC Public Health. 2017;17(1):414. https://doi.org/10.1186/s12889-017-4308-6 .
doi: 10.1186/s12889-017-4308-6
pubmed: 28482878
pmcid: 5422915
Chwalisz K, Vaux A. Social support and adjustment to disability. In: Handbook of rehabilitation psychology. Washington: American Psychological Association; 2000. p. 537–52. https://doi.org/10.1037/10361-025 .
Belzer LT, Wright SM, Goodwin EJ, Singh MN, Carter BS. Psychosocial considerations for the child with rare disease: a review with recommendations and calls to action. Children (Basel). 2022;9(7):933. https://doi.org/10.3390/children9070933 .
doi: 10.3390/children9070933
pubmed: 35883917
Pelentsov LJ, Laws TA, Esterman AJ. The supportive care needs of parents caring for a child with a rare disease: a scoping review. Disabil Health J. 2015;8:475–91. https://doi.org/10.1016/j.dhjo.2015.03.009 .
doi: 10.1016/j.dhjo.2015.03.009
pubmed: 25959710
Anderson D, Dumont S, Jacobs P, Azzaria L. The personal costs of caring for a child with a disability: a review of the literature. Public Health Rep. 2007;122(1):3–16. https://doi.org/10.1177/003335490712200102 .
doi: 10.1177/003335490712200102
pubmed: 17236603
pmcid: 1802121
Wood C, Orpinas P. Victimization of children with disabilities: coping strategies and protective factors. Disabil Soc. 2021;36(9):1469–88. https://doi.org/10.1080/09687599.2020.1802578 .
doi: 10.1080/09687599.2020.1802578
Rule AC, Stefanich GP, Boody RM, Peiffer B. Impact of adaptive materials on teachers and their students with visual impairments in secondary science and mathematics classes. Int J Sci Educ. 2011;33(6):865–87. https://doi.org/10.1080/09500693.2010.506619 .
doi: 10.1080/09500693.2010.506619
Teasdale E, Muller I, Sivyer K, Ghio D, Greenwell K, Wilczynska S, et al. Views and experiences of managing eczema: systematic review and thematic synthesis of qualitative studies. Br J Dermatol. 2021;184(4):627–37. https://doi.org/10.1111/bjd.19299 .
doi: 10.1111/bjd.19299
pubmed: 32531800
Gómez-Zúñiga B, Pulido Moyano R, Pousada Fernández M, García Oliva A, Armayones Ruiz M. The experience of parents of children with rare diseases when communicating with healthcare professionals: towards an integrative theory of trust. Orphanet J Rare Dis. 2019;14(1):159. https://doi.org/10.1186/s13023-019-1134-1 .
doi: 10.1186/s13023-019-1134-1
pubmed: 31253163
pmcid: 6599337
Lupón M, Armayones M, Cardona G. Quality of life among parents of children with visual impairment: a literature review. Res Dev Disabil. 2018;83:120–31. https://doi.org/10.1016/j.ridd.2018.08.013 .
doi: 10.1016/j.ridd.2018.08.013
pubmed: 30195210
Sterman J, Naughton G, Froude E, Villeneuve M, Beetham K, Wyver S, et al. Outdoor play decisions by caregivers of children with disabilities: a systematic review of qualitative studies. J Dev Phys Disabil. 2016;28(6):931–57. https://doi.org/10.1007/s10882-016-9517-x .
doi: 10.1007/s10882-016-9517-x
Price J, Wurz A, Ramphal R, Wilson K, Brunet J. Using a dyadic approach to explore parental support for physical activity among young cancer survivors. Disabil Rehabil. 2021;43(19):2704–12. https://doi.org/10.1080/09638288.2020.1712621 .
doi: 10.1080/09638288.2020.1712621
pubmed: 31957500
Howells LM, Chalmers JR, Cowdell F, Ratib S, Santer M, Thomas KS. ‘When it goes back to my normal I suppose’: a qualitative study ustamba Daping online focus groups to explore perceptions of ‘control’ among people with eczema and parents of children with eczema in the UK. BMJ Open. 2017;7(11):e017731. https://doi.org/10.1136/bmjopen-2017-017731 .
doi: 10.1136/bmjopen-2017-017731
pubmed: 29146642
pmcid: 5695402
Partow S, Cook R, McDonald R. Coping with stigmatization and discrimination related to blindness and low vision. Rehabil Psychol. 2021;66(4):576–88. https://doi.org/10.1037/rep0000391 .
doi: 10.1037/rep0000391
pubmed: 34435800
Zarit SH, Reever KE, Bach-Peterson J. Relatives of the impaired elderly: correlates of feelings of burden. Gerontologist. 1980;20(6):649–55. https://doi.org/10.1093/geront/20.6.649 .
doi: 10.1093/geront/20.6.649
pubmed: 7203086
Chren MM, Weinstock MA. Conceptual issues in measuring the burden of skin diseases. J Investig Dermatol Symp Proc. 2004;9:97–100. https://doi.org/10.1111/j.1087-0024.2004.09119.x .
doi: 10.1111/j.1087-0024.2004.09119.x
pubmed: 15083772
Boccara O, Méni C, Léauté-Labreze C, Bodemer C, Voisard J-J, Dufresne H, et al. Haemangioma family burden: creation of a specific questionnaire. Acta Derm Venereol. 2015;95(1):78–82. https://doi.org/10.2340/00015555-1847 .
doi: 10.2340/00015555-1847
pubmed: 24676555
Dufresne H, Hadj-Rabia S, Méni C, Sibaud V, Bodemer C, Taïeb C. Family burden in inherited ichthyosis: creation of a specific questionnaire. Orphanet J Rare Dis. 2013;8:28. https://doi.org/10.1186/1750-1172-8-28 .
doi: 10.1186/1750-1172-8-28
pubmed: 23414570
pmcid: 3599730
Taïeb A, Boralevi F, Seneschal J, Merhand S, Georgescu V, Taieb C, et al. Atopic dermatitis burden scale for adults: development and validation of a new assessment tool. Acta Derm Venereol. 2015;95(6):700–5. https://doi.org/10.2340/00015555-1945 .
doi: 10.2340/00015555-1945
pubmed: 25118699
Salzes C, Abadie S, Seneschal J, Whitton M, Meurant J-M, Jouary T, et al. The vitiligo impact patient scale (VIPs): development and validation of a vitiligo burden assessment tool. J Invest Dermatol. 2016;136(1):52–8. https://doi.org/10.1038/JID.2015.398 .
doi: 10.1038/JID.2015.398
pubmed: 26763423
Link BG, Phelan JC. Conceptualizing stigma. Annu Rev Sociol. 2001;27(1): 363–85. http://www.jstor.org/stable/2678626 .
Goffman E. Stigma: notes on the management of spoiled identity. New York: Simon & Schuster, Inc.; 2009. ISBN 978-1439188330.
Barlösius E, Philipps A. Felt stigma and obesity: Introducing the generalized other. Soc Sci Med. 2015;130:9–15. https://doi.org/10.1016/j.socscimed.2015.01.048 .
doi: 10.1016/j.socscimed.2015.01.048
pubmed: 25658623
Puhl RM, Heuer CA. Obesity stigma: important considerations for public health. Am J Public Health. 2010;100(6):1019–28. https://doi.org/10.2105/AJPH.2009.159491 .
doi: 10.2105/AJPH.2009.159491
pubmed: 20075322
pmcid: 2866597
Dimitrov D, Szepietowski JC. Stigmatization in dermatology with a special focus on psoriatic patients. Postepy Hig Med Dosw (Online). 2017;71:1115–22. https://doi.org/10.5604/01.3001.0010.6879 .
doi: 10.5604/01.3001.0010.6879
pubmed: 29225203
Wanitphakdeedecha R, Sudhipongpracha T, Ng J, Yan C, Jantarakolica T. Self-stigma and psychosocial burden of patients with port-wine stain: a systematic review and meta-analysis. J Cosmet Dermatol. 2021;20(7):2203–10. https://doi.org/10.1111/jocd.14199 .
doi: 10.1111/jocd.14199
pubmed: 33949094
Mahajan AP, Sayles JN, Patel VA, et al. Stigma in the HIV/AIDS epidemic: a review of the literature and recommendations for the way forward. AIDS. 2008;22 Suppl 2(Suppl 2):S67–79. https://doi.org/10.1097/01.aids.0000327438.13291.62 .
doi: 10.1097/01.aids.0000327438.13291.62
pubmed: 18641472
Pinto-Foltz MD, Logsdon MC. Stigma towards mental illness: a concept analysis using postpartum depression as an exemplar. Issues Ment Health Nurs. 2008;29(1):21–36. https://doi.org/10.1080/01612840701748698 .
doi: 10.1080/01612840701748698
pubmed: 18214776
Puhl RM, Latner JD. Stigma, obesity, and the health of the nation’s children. Psychol Bull. 2007;133(4):557–80. https://doi.org/10.1037/0033-2909.133.4.557 .
doi: 10.1037/0033-2909.133.4.557
pubmed: 17592956
Claes M. Les relations interpersonnelles et le développement à l’adolescence. In: L’univers social des adolescents. Montréal: Presses de l’Université de Montréal; 2018. pp. 13–26. https://doi.org/10.4000/books.pum.13735 .
Claes M. L’expérience adolescente. Bruxelles: P. Mardaga; 1983. ISBN 978-2870091760.
Scott N, Crane M, Lafontaine M, Seale H, Currow D. Stigma as a barrier to diagnosis of lung cancer: patient and general practitioner perspectives. Prim Health Care Res Dev. 2015;16(06):618–22. https://doi.org/10.1017/S1463423615000043 .
doi: 10.1017/S1463423615000043
pubmed: 25660904
Corrigan P. How stigma interferes with mental health care. Am Psychol. 2004;59(7):614–25. https://doi.org/10.1037/0003-066X.59.7.614 .
doi: 10.1037/0003-066X.59.7.614
pubmed: 15491256
DiIorio C, Osborne Shafer P, Letz R, et al. The association of stigma with self-management and perceptions of health care among adults with epilepsy. Epilepsy Behav. 2003;4(3):259–67. https://doi.org/10.1016/s1525-5050(03)00103-3 .
doi: 10.1016/s1525-5050(03)00103-3
pubmed: 12791327
Link B, Hatzenbuehler ML. Stigma as an unrecognized determinant of population health: research and policy implications. J Health Polit Policy Law. 2016;41(4):653–73. https://doi.org/10.1215/03616878-3620869 .
doi: 10.1215/03616878-3620869
pubmed: 27127258
Stangl AL, Earnshaw VA, Logie CH, et al. The Health Stigma and Discrimination Framework: a global, crosscutting framework to inform research, intervention development, and policy on health-related stigmas. BMC Med. 2019;17(1):31. https://doi.org/10.1186/s12916-019-1271-3 .
doi: 10.1186/s12916-019-1271-3
pubmed: 30764826
pmcid: 6376797
Kromberg JGR. Psychosocial and cultural aspects of albinism. In: Albinism in Africa. Elsevier; 2018. p. 171–201. https://doi.org/10.1016/B978-0-12-813316-3.00009-X .
Kutzbach BR, Merrill KS, Hogue KM, Downes SJ, Holleschau AM, Mac- Donald JT, Summers CG. Evaluation of vision-specific quality-of-life in albinism. J AAPOS. 2009;13(2):191–5. https://doi.org/10.1016/j.jaapos.2008.10.008 .
doi: 10.1016/j.jaapos.2008.10.008
pubmed: 19157938
Ramulu P. Glaucoma and disability: which tasks are affected, and at what stage of disease? Curr Opin Ophthalmol. 2009;20(2):92–8. https://doi.org/10.1097/ICU.0b013e32832401a9 .
doi: 10.1097/ICU.0b013e32832401a9
pubmed: 19240541
pmcid: 2692230
Aspinall PA, Johnson ZK, Azuara-Blanco A, Montarzino A, Brice R, Vickers A. Evaluation of quality of life and priorities of patients with glaucoma. Investig Ophthalmol Vis Sci. 2008;49(5):1907–15. https://doi.org/10.1167/iovs.07-0559 .
doi: 10.1167/iovs.07-0559
Xu K, Gupta V, Bae S, Sharma S. Metamorphopsia and vision-related quality of life among patients with age-related macular degeneration. Can J Ophthalmol. 2018;53(2):168–72. https://doi.org/10.1016/j.jcjo.2017.08.006 .
doi: 10.1016/j.jcjo.2017.08.006
pubmed: 29631830
Mitchell J, Bradley C. Quality of life in age-related macular degeneration: a review of the literature. Health Qual Life Outcomes. 2006;4(1):97. https://doi.org/10.1186/1477-7525-4-97 .
doi: 10.1186/1477-7525-4-97
pubmed: 17184527
pmcid: 1780057
Coyne KS, Margolis MK, Kennedy-Martin T, Baker TM, Klein R, Paul MD, et al. The impact of diabetic retinopathy: perspectives from patient focus groups. Fam Pract. 2004;21(4):447–53. https://doi.org/10.1093/fampra/cmh417 .
doi: 10.1093/fampra/cmh417
pubmed: 15249536
Lamoureux EL, Hassell JB, Keeffe JE. The impact of diabetic retinopathy on participation in daily living. Arch Ophthalmol. 2004;122(1):84–8. https://doi.org/10.1001/archopht.122.1.84 .
doi: 10.1001/archopht.122.1.84
pubmed: 14718300
Marston JR, Golledge RG. The hidden demand for participation in activities and travel by persons who are visually impaired. J Vis Impair Blind. 2003;97(8):475–88. https://doi.org/10.1177/0145482X0309700803 .
doi: 10.1177/0145482X0309700803
Walker BN, Lindsay J. Navigation performance with a virtual auditory display: effects of beacon sound, capture radius, and practice. Hum Factors. 2006;48(2):265–78. https://doi.org/10.1518/001872006777724507 .
doi: 10.1518/001872006777724507
pubmed: 16884048
Roentgen UR, Gelderblom GJ, Soede M, De Witte LP. The impact of electronic mobility devices for persons who are visually impaired: a systematic review of effects and effectiveness. J Vis Impair Blind. 2009;103(11):743–53. https://doi.org/10.1177/0145482X0910301104 .
doi: 10.1177/0145482X0910301104
Yates TM, Tyrell FA, Masten AS. Resilience theory and the practice of positive psychology from individuals to societies. Posit Psychol Pract. 2015;44:773–88. https://doi.org/10.1002/9781118996874.ch44 .
doi: 10.1002/9781118996874.ch44
Bonanno GA. Loss, trauma, and human resilience: have we underestimated the human capacity to thrive after extremely aversive events? Am Psychol. 2004;59(1):20–8. https://doi.org/10.1037/0003-066X.59.1.20 .
doi: 10.1037/0003-066X.59.1.20
pubmed: 14736317
Masten AS, Reed MJ. Resilience in development. In: Snyder CR, Lopez SJ, editors. Handbook of Positive Psychology. New York: Oxford University Press; 2002. p. 117–31 ISBN 978-0198030942.
Battalio SL, Silverman AM, Ehde DM, Amtmann D, Edwards KA, Jensen MP. Resilience and function in adults with physical disabilities: an observational study. Arch Phys Med Rehabil. 2016;98:1158–64. https://doi.org/10.1016/j.apmr.2016.11.012 .
doi: 10.1016/j.apmr.2016.11.012
pubmed: 27993585
Edwards KA, Alschuler KA, Ehde DM, Battalio SL, Jensen MP. Changes in resilience predict function in adults with physical disabilities: a longitudinal study. Arch Phys Med Rehabil. 2017;98:329–36. https://doi.org/10.1016/j.apmr.2016.09.123 .
doi: 10.1016/j.apmr.2016.09.123
pubmed: 27776921
Terrill AL, Molton IR, Ehde DM, et al. Resilience, age, and perceived symptoms in persons with long-term physical disabilities. J Health Psychol. 2016;21:640–9. https://doi.org/10.1177/1359105314532973 .
doi: 10.1177/1359105314532973
pubmed: 27165965
Sarre S, Redlich C, Tinker A, Sadler E, Bhalla A, McKevitt C. A systematic review of qualitative studies on adjusting after stroke: lessons for the study of resilience. Disability and Rehabilitation. 2013;36(9):716–26. https://doi.org/10.3109/09638288.2013.814724 .
doi: 10.3109/09638288.2013.814724
pubmed: 23883420
Peer JW, Hillman SB. Stress and resilience for parents of children with intellectual and developmental disabilities: a review of key factors and recommendations for practitioners: Stress and resilience. J Policy Pract Intellect Disabil. 2014;11(2):92–8. https://doi.org/10.1111/jppi.12072 .
doi: 10.1111/jppi.12072
Heiman T. Parents of children with disabilities: resilience, coping, and future expectations. J Dev Phys Disabil. 2002;14(2):159–71. https://doi.org/10.1023/A:1015219514621 .
doi: 10.1023/A:1015219514621
Senders A, Bourdette D, Hanes D, Yadav V, Shinto L. Perceived stress in multiple sclerosis: the potential role of mindfulness in health and well-being. J Evid Based Complementary Altern Med. 2014;19:104–11. https://doi.org/10.1177/2156587214523291 .
doi: 10.1177/2156587214523291
pubmed: 24647090
Smith BW, Zautra AJ. Vulnerability and resilience in women with arthritis: test of a two-factor model. J Consult Clin Psychol. 2008;76:799–810. https://doi.org/10.1037/0022-006X.76.5.799 .
doi: 10.1037/0022-006X.76.5.799
pubmed: 18837597
Yeung EW, Arewasikporn A, Zautra AJ. Resilience and chronic pain. J Soc Clin Psychol. 2012;31(6):593–617. https://doi.org/10.1521/jscp.2012.31.6.593 .
doi: 10.1521/jscp.2012.31.6.593
Black R, Dorstyn D. A biopsychosocial model of resilience for multiple sclerosis. J Health Psychol. 2015;20(11):1434–44. https://doi.org/10.1177/1359105313512879 .
doi: 10.1177/1359105313512879
pubmed: 24323335
Silverman AM, Molton IR, Alschuler KN, Ehde DM, Jensen MP. Resilience predicts functional outcomes in people aging with disability: a longitudinal investigation. Arch Phys Med Rehabil. 2015;96:1262–8. https://doi.org/10.1016/j.apmr.2015.02.023 .
doi: 10.1016/j.apmr.2015.02.023
pubmed: 25757790
Petrie KJ, Jago LA, Devcich DA. The role of illness perceptions in patients with medical conditions. Curr Opin Psychiatry. 2007;20(2):163–7. https://doi.org/10.1097/YCO.0b013e328014a871 .
doi: 10.1097/YCO.0b013e328014a871
pubmed: 17278916
Hagger MS, Orbell S. A meta-analytic review of the common-sense model of illness representations. Psychol Health. 2003;18(2):141–84. https://doi.org/10.1080/088704403100081321 .
doi: 10.1080/088704403100081321
Leventhal H, Nerenz DR, Steele DJ. Illness representations and coping with health threats. In: Baum A, Taylor SE, Singer JE, editors. Handbook of Psychology and Health: Volume IV: Social Psychological Aspects of Health. Mahwah, NJ: Lawrence Erlbaum Associates; 1984. p. 219–52 ISBN 978-1003044307.
Broadbent E, Petrie KJ, Main J, Weinman J. The brief illness perception questionnaire. J Psychosom Res. 2006;60(6):631–7. https://doi.org/10.1016/j.jpsychores.2005.10.020 .
doi: 10.1016/j.jpsychores.2005.10.020
pubmed: 16731240
Moss-Morris R, Weinman J, Petrie K, Horne R, Cameron L, Buick D. The revised illness perception questionnaire (IPQ-R). Psychol Health. 2002;17(1):1–16. https://doi.org/10.1080/08870440290001494 .
doi: 10.1080/08870440290001494
Weinman J, Petrie KJ, Moss-morris R, Horne R. The illness perception questionnaire: a new method for assessing the cognitive representation of illness. Psychol Health. 1996;11(3):431–45. https://doi.org/10.1080/08870449608400270 .
doi: 10.1080/08870449608400270
Turk DC, Rudy TE, Salovey P. Implicit models of illness. J Behav Med. 1986;9(5):453–74. https://doi.org/10.1007/BF00845133 .
doi: 10.1007/BF00845133
pubmed: 3795264
Azad A, Sernbo E, Svärd V, Holmlund L, Björk Brämberg E. conducting in-depth interviews via mobile phone with persons with common mental disorders and multimorbidity: the challenges and advantages as experienced by participants and researchers. Int J Environ Res Public Health. 2021;18(22):11828. https://doi.org/10.3390/ijerph182211828 .
doi: 10.3390/ijerph182211828
pubmed: 34831582
pmcid: 8619936
Sturges JE, Hanrahan KJ. Comparing telephone and face-to-face qualitative interviewing: a research note. Qual Res. 2004;4(1):107–18. https://doi.org/10.1177/1468794104041110 .
doi: 10.1177/1468794104041110
Bicudo NP, de Menezes Neto BF, da Silva de Avó LR, Germano CMR, Melo DG. Quality of life in adults with neurofibromatosis 1 in Brazil. J Genet Couns. 2016;25(5):1063–74. https://doi.org/10.1007/s10897-016-9939-8 .
doi: 10.1007/s10897-016-9939-8
pubmed: 26944915
Mazereeuw-Hautier J, Dreyfus I, Barbarot S, Serrentino L, Bourdon-Lanoy E, Ezzedine K, Maza A, Aujoulat I, Le Rhun A. Factors influencing quality of life in patients with inherited ichthyosis: a qualitative study in adults using focus groups. Br J Dermatol. 2012;166(3):646–8. https://doi.org/10.1111/j.1365-2133.2011.10701.x .
doi: 10.1111/j.1365-2133.2011.10701.x
pubmed: 22014001
Moreno-Artero E, Morice-Picard F, Bremond-Gignac D, Drumare-Bouvet I, Duncombe-Poulet C, Leclerc-Mercier S, et al. Management of albinism: French guidelines for diagnosis and care. J Eur Acad Dermatol Venereol. 2021;35(7):1449–59. https://doi.org/10.1111/jdv.17275 .
doi: 10.1111/jdv.17275
pubmed: 34042219
Legere D. Comment la génétique vient bousculer la famille et questionne le transgénérationnel: la place de la culpabilité dans un système familial. 47èmes Journées d’Étude de l’ALFPHV; 2021 oct 7; Nantes.
Laurent K, Daviau L, Lebret C. Interculturalité/familles migrantes/transmissions en lien avec la déficience visuelle et les pathologies génétiques. 47èmes Journées d’Étude de l’ALFPHV; 2021 oct 7; Nantes.
Alliance Maladies Rares. (2016). ERRADIAG : L’errance diagnostique dans les maladies rares. https://www.alliance-maladies-rares.org/wp-content/uploads/2020/05/Erradiag-l-errance-diagnostic-dans-les-maladies-rares1.pdf .