Co-creating a knowledge base in the “22q11.2 deletion syndrome” community

Austin J, Semake A, Hadjipavlou G (2014) Conceptualizing genetic counselling as psychotherapy in the era of genomic medicine. J Genet Couns 23(6):903–909. https://doi.org/10.1007/s109897-014-9728-1

Bradley E (2016) Carers and co-production: enabling expertise through experience? Ment Health Rev J 20(4):232–241

Braun V, Clarke V (2006) Using thematic analysis in psychology. Qual Res Psychol 3(2):77–101. https://doi.org/10.1191/1478088706qp063oa

Chawner SJRA, Doherty JL, Moss H, Niarchou M, Walters JTR, Owen MJ, van den Bree MBM (2017) Childhood cognitive development in 22q11.2 deletion syndrome: case-control study. Br J Psychiatry 211(4):223–230

Chung JE (2014) Social networking in online support groups for health: how online social networking benefits patients. J Health Commun 19(6):639–659

Colineau N, Paris C (2010) Talking about your health to strangers: understanding the use of online social networks by patients. New Review of Hypermedia and Multimedia 16(1–2):141–160

Dimond (2010) Multiple meanings of a rare genetic syndrome: 22q11 deletion syndrome . Ph. D. University of Cardiff

Fox S (2012) After Dr. Google: peer–to-peer health care. Paediatrics 131(4):S224–S225. https://doi.org/10.1542/peds.2012-3786K

Gunderson T (2011) ‘One wants to know what a chromosome is’; the internet as a coping resource when adjusting to life parenting a child with a rare genetic disorder. Sociology of Health and Illness 33(1):81–95

Hilliard M, Sparling K, Hitchcock J, Oser T, Hood K (2015) The emerging diabetes online community. Curr Diabetes Rev 11(4):261–272

Huff J (2015) Parent to parent, peer to peer: an investigation of mutual social support groups as a resource for genetic counsellors. Masters. Brandeis University

Kazmer M, Lustria M, Cortese J, Burnett G, Kim J, Ma J, Frost J (2014) Distributed knowledge in an online patient support community: authority and discovery. J Am Soc Inf Sci Technol

Limb, Nutt (2011) Improving lives, optimising resources: a vision for the UK rare disease strategy. Rare disease UK. Accessed online at https://www.raredisease.org.uk/media/1598/improving-lives-optmising-resources-a-vision-for-the-uk-rare-disease-strategy.pdf on the 9th February 2017

Lowe P, Powell J, Griffiths F Thorogood M, Locock L (2009) “Making it all normal”: the role of the internet in problematic pregnancy. Qualitative Health Research October 19. Pgs. 1476–1484

Lustria ML, Smith SA, Hinnant CC (2011) Exploring digital divides: an examination of eHealth technology use in health information seeking, communication and personal health information management in the USA. Health Informatics Journal 17(3):224–243. https://doi.org/10.1177/1460458211414843

Max Appeal (2013) Parent/carer consensus document for the diagnosis and management of 22q11DS in the UK [online]. Available on http://www.maxappeal.org.uk/downloads/0IL003_-_Con_Doc_for_parents_v2.pdf . Accessed on the 15 thJuly 2015)

McDonald-McGinn D (2013) 22q11.2 Deletion syndrome in: Pagon et al. eds. GeneReviews ™ [Online] Seattle: University of Washington, Seattle. Available on http://www.ncbi.nlm.nih.gov/books/NBK1523/ . Accessed on 11th February 2014

Mustafa H, Short M, Fan S (2015) Social support exchanges in Facebook social support group. Procedia Soc Behav Sci 185:346–351. https://doi.org/10.1016/j.sbspro.2015.03.449

Novas C (2006) The Political Economy of Hope: Patients’ Organizations, Science and Biovalue. BioSocieties 1(3):289–305

Niarchou M, Zammit S, van Goozen SHM, Thapar A, Tierling HM, Owen MJ, van den Bree MBM (2014) Psychopathology and cognition in children with 22q11.2 deletion syndrome. Br J Psychiatry 204(1):46–54

Oprescu F et al (2013) Online information exchanges for parents of children with a rare health condition: key findings from an online support community. J Med Internet Res 15(1):e16. https://doi.org/10.2196/jmir.2423 Published online 22 Jan 2013. Accessed 18th March 2014

Oskarsdottir et al (2004) Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child 4(89):148–151

Pelentsov L, Fielder A, Laws T, Esterman A (2016) The supportive care needs of parents with a child with a rare disease: results of an online survey. BMC Fam Pract 17:88. https://doi.org/10.1186/s12875-016-0488-x

Plumridge G, Metcalfe A, Coad J (2010) The role of support groups in facilitating families in coping with a genetic condition and in discussion of genetic risk information. Health Expect (15) pp.255–266

Rains SA (2008) Seeking health information in the information age: the role of internet self-efficacy. West J Commun 72(1):1–18

Rebecca D (2010) Multiple meanings of a rare genetic syndrome: 22q11 deletion syndrome. Ph. D. University of Cardiff

Shprintzen RJ (2008) Velo-cardio-facial syndrome: 30 years of study. Developmental Disabilities Research Reviews 14(1):3–10

Van den Bree M et al (2013) The internet is parents’ main source of information about psychiatric manifestations of 22q11.2 deletion syndrome (22q11.2DS). European Journal of Medical Genetics 56:439–441 ( http://www.cardiff.ac.uk/mrc-centre-neuropsychiatric-genetics-genomics/research/themes/developmental-disorders/echo-study-cnv-research )

Van der Eijk M, Faber M, Aarts J, Kremer I, Munneke M et al (2013) Using online health communities to deliver patient-centrered care to people with chronic conditions. J Med Internet Res 15(6):e115

Vicari S, Cappai F (2016) Health activism and the logic of connective action. A case study of rare disease patient organisations. Inf Commun Soc 19(11):1653–1671

Waldron N, Brown S, Hewlett S, Elliott B, McHugh N, McCabe C (2011) ‘It’s more scary not to know’: a qualitative study exploring the information needs of patients with systemic lupus erythematosus at the time of diagnosis. Musculoskeletal Care 9(4):228–238

Ziebland S, Wyke S (2012) Health and illness in a connected world: how might sharing experiences on the internet affect people’s health. The Milbank Quarterly 90(2):219–249