Marini JC, Forlino A, Bächinger HP et al (2017) Osteogenesis Imperfecta. Nat Rev Dis Primers 3:17052. https://doi.org/10.1038/nrdp.2017.52

Article  PubMed  Google Scholar 

Arundel P, Borg SA (2023) Early Life Management of Osteogenesis Imperfecta. Curr Osteoporos Rep. https://doi.org/10.1007/s11914-023-00823-5

Article  PubMed  PubMed Central  Google Scholar 

Deguchi M, Tsuji S, Katsura D et al (2021) Current overview of Osteogenesis Imperfecta. Med (B Aires) 57:464. https://doi.org/10.3390/medicina57050464

Article  Google Scholar 

Bregou B, Aubry-Rozier B, Bonafé L et al (2016) Osteogenesis Imperfecta: from diagnosis and multidisciplinary treatment to future perspectives. Swiss Med Wkly. https://doi.org/10.4414/smw.2016.14322

Article  Google Scholar 

Hill CL, Baird WO, Walters SJ (2014) Quality of life in children and adolescents with Osteogenesis Imperfecta: a qualitative interview based study. Health Qual Life Outcomes 12:54. https://doi.org/10.1186/1477-7525-12-54

Article  PubMed  PubMed Central  Google Scholar 

Marom R, Rabenhorst BM, Morello R (2020) Management of Endocrine Disease: Osteogenesis Imperfecta: an update on clinical features and therapies. Eur J Endocrinol 183:R95–R106. https://doi.org/10.1530/EJE-20-0299

Article  CAS  PubMed  PubMed Central  Google Scholar 

Thomas IH, DiMeglio LA (2016) Advances in the classification and treatment of Osteogenesis Imperfecta. Curr Osteoporos Rep 14:1–9. https://doi.org/10.1007/s11914-016-0299-y

Article  PubMed  Google Scholar 

Tsimicalis A, Boitor M, Ferland CE et al (2018) Pain and quality of life of children and adolescents with osteogenesis imperfecta over a bisphosphonate treatment cycle. Eur J Pediatr 177:891–902. https://doi.org/10.1007/s00431-018-3127-9

Article  CAS  PubMed  Google Scholar 

Montpetit K, Lafrance M-E, Glorieux FH et al (2021) Predicting ambulatory function at skeletal maturity in children with moderate to severe osteogenesis imperfecta. Eur J Pediatr 180:233–239. https://doi.org/10.1007/s00431-020-03754-w

Article  PubMed  Google Scholar 

Ashby E, Montpetit K, Hamdy RC, Fassier F (2018) Functional outcome of Forearm Rodding in Children with Osteogenesis Imperfecta. J Pediatr Orthop 38:54–59. https://doi.org/10.1097/BPO.0000000000000724

Article  PubMed  Google Scholar 

Williams K, Jacoby P, Whitehouse A et al (2023) Functioning, participation, and quality of life in children with intellectual disability: an observational study. Dev Med Child Neurol 65. https://doi.org/10.1111/dmcn.15454

Nijhuis W, Franken A, Ayers K et al (2021) A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta. Orphanet J Rare Dis 16:140. https://doi.org/10.1186/s13023-021-01682-y

Article  PubMed  PubMed Central  Google Scholar 

Karimi M, Brazier J (2016) Health, Health-Related Quality of Life, and quality of life: what is the difference? PharmacoEconomics 34:645–649. https://doi.org/10.1007/s40273-016-0389-9

Article  PubMed  Google Scholar 

Hill C (2015) Development of an Osteogenesis Imperfecta (OI) specific quality of Life measure. University of Sheffield

Pinquart M (2020) Health-Related Quality of Life of Young People with and without chronic conditions. J Pediatr Psychol 45:780–792. https://doi.org/10.1093/jpepsy/jsaa052

Article  PubMed  Google Scholar 

Eiser C, Varni JW (2013) Health-related quality of life and symptom reporting: similarities and differences between children and their parents. Eur J Pediatr 172:1299–1304. https://doi.org/10.1007/s00431-013-2049-9

Article  PubMed  Google Scholar 

Varni JW, Limbers CA, Burwinkle TM (2007) Impaired health-related quality of life in children and adolescents with chronic conditions: a comparative analysis of 10 disease clusters and 33 disease categories/severities utilizing the PedsQL™ 4.0 generic core scales. Health Qual Life Outcomes 5:43. https://doi.org/10.1186/1477-7525-5-43

Article  PubMed  PubMed Central  Google Scholar 

Harding L (2001) Children’s quality of life assessments: a review of generic and health related quality of life measures completed by children and adolescents. Clin Psychol Psychother 8:79–96. https://doi.org/10.1002/cpp.275

Article  Google Scholar 

Eiser C (1996) Helping children with chronic disease: themes and directions. Clin Child Psychol Psychiatry 1:551–561

Article  Google Scholar 

Savage A, McConnell D, Emerson E, Llewellyn G (2014) Disability-based inequity in youth subjective well-being: current findings and future directions. Disabil Soc 29:877–892. https://doi.org/10.1080/09687599.2014.880331

Article  Google Scholar 

Seikaly MG, Kopanati S, Salhab N et al (2005) Impact of alendronate on quality of life in children with osteogenesis imperfecta. J Pediatr Orthop 25:786–791

Article  PubMed  Google Scholar 

Engelbert RH, Gulmans VA, Uiterwaal CS, Helders PJ (2001) Osteogenesis Imperfecta in childhood: perceived competence in relation to impairment and disability. Arch Phys Med Rehabil 82:943–948. https://doi.org/10.1053/apmr.2001.23889

Article  CAS  PubMed  Google Scholar 

Löwing K, Åström E, Oscarsson KA et al (2007) Effect of intravenous pamidronate therapy on everyday activities in children with osteogenesis imperfecta. Acta Paediatr 96:1180–1183. https://doi.org/10.1111/j.1651-2227.2007.00390.x

Article  PubMed  Google Scholar 

Van Brussel M, Takken T, Uiterwaal CSPM et al (2008) Physical training in children with Osteogenesis Imperfecta. J Pediatr 152:111–116e1. https://doi.org/10.1016/j.jpeds.2007.06.029

Article  PubMed  Google Scholar 

Dahan-Oliel N, Oliel S, Tsimicalis A et al (2016) Quality of life in osteogenesis imperfecta: a mixed-methods systematic review. Am J Med Genet A 170:62–76. https://doi.org/10.1002/ajmg.a.37377

Article  Google Scholar 

Vanz AP, Félix TM, da Rocha NS, Schwartz IVD (2015) Quality of life in caregivers of children and adolescents with Osteogenesis Imperfecta. Health Qual Life Outcomes 13:41. https://doi.org/10.1186/s12955-015-0226-4

Article  PubMed  PubMed Central  Google Scholar 

Song Y, Zhao D, Li L et al (2019) Health-related quality of life in children with osteogenesis imperfecta: a large-sample study. Osteoporos Int 30:461–468. https://doi.org/10.1007/s00198-018-4801-5

Article  CAS  PubMed  Google Scholar 

Dogba MJ, Bedos C, Durigova M et al (2013) The impact of severe osteogenesis imperfecta on the lives of young patients and their parents - a qualitative analysis. BMC Pediatr 13:153. https://doi.org/10.1186/1471-2431-13-153

Article  PubMed  PubMed Central  Google Scholar 

Dogba MJ, Dahan-Oliel N, Snider L et al (2016) Involving families with osteogenesis imperfecta in health service research: joint development of the OI/ECE questionnaire. PLoS ONE 11:e0147654. https://doi.org/10.1371/journal.pone.0147654

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hill M, Hammond J, Sharmin M et al (2022) Living with osteogenesis imperfecta: a qualitative study exploring experiences and psychosocial impact from the perspective of patients, parents and professionals. Disabil Health J 15:101168. https://doi.org/10.1016/j.dhjo.2021.101168

Article  PubMed  Google Scholar 

Wiggins S, Kreikemeier R (2017) Bisphosphonate therapy and osteogenesis imperfecta: the lived experience of children and their mothers. J Spec Pediatr Nurs 22. https://doi.org/10.1111/jspn.12192

dos Santos MC, Pires AF, Soares K, Barros L (2018) Family experience with osteogenesis imperfecta type 1: the most distressing situations. Disabil Rehabil 40:2281–2287. https://doi.org/10.1080/09638288.2017.1334236

Article  PubMed  Google Scholar 

Osteogenesis Imperfecta Foundation (2022) Social and Emotional Issues of Living with OI. https://oif.org/wp-content/uploads/2019/08/Social_and_Emotional_Issues_of_Living_with_OI.pdf. Accessed 18 Dec 2023

Tsimicalis A, Denis-Larocque G, Michalovic A et al (2016) The psychosocial experience of individuals living with osteogenesis imperfecta: a mixed-methods systematic review. Qual Life Res 25:1877–1896. https://doi.org/10.1007/s11136-016-1247-0

Article  PubMed  Google Scholar 

Lazow MA, Jaser SS, Cobry EC et al (2019) Stress, Depression, and Quality of Life among caregivers of Children with Osteogenesis Imperfecta. J Pediatr Health Care 33:437–445. https://doi.org/10.1016/j.pedhc.2018.12.003

Article  PubMed  Google Scholar 

Kok DHJ, Sakkers RJB, Janse AJ et al (2007) Quality of life in children with osteogenesis imperfecta treated with oral bisphosphonates (Olpadronate): a 2-year randomized placebo-controlled trial. Eur J Pediatr 166:1155–1161

Article  PubMed  Google Scholar 

Kumar A, Saikia U, Bhuyan A et al (2023) Zoledronic acid treatment in infants and toddlers with osteogenesis imperfecta is safe and effective: a tertiary care centre experience. Indian J Endocrinol Metab 27:255–259. https://doi.org/10.4103/ijem.ijem_268_22

Article  CAS  PubMed  PubMed Central  Google Scholar 

Glorieux FH, Bishop NJ, Plotkin H et al (1998) Cyclic Administration of Pamidronate in children with severe Osteogenesis Imperfecta. N Engl J Med 339:947–952. https://doi.org/10.1056/NEJM199810013391402

Article  CAS  PubMed  Google Scholar 

Plotkin H, Rauch F, Bishop NJ et al (2000) Pamidronate Treatment of Severe Osteogenesis Imperfecta in Children under 3 years of Age*. J Clin Endocrinol Metab 85:1846–1850. https://doi.org/10.1210/jcem.85.5.6584

Article  CAS  PubMed  Google Scholar 

Addab S, Thierry S, Lafrance M-E et al (2022) Development of the evidence-informed OI splint kit for children with Osteogenesis Imperfecta and their families. McGill J Med 20. https://doi.org/10.26443/m