Skip to main content
Top
Published in: Health and Quality of Life Outcomes 1/2014

Open Access 01-12-2014 | Review

Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta

Authors: Maman Joyce Dogba, Frank Rauch, Erin Douglas, Christophe Bedos

Published in: Health and Quality of Life Outcomes | Issue 1/2014

Login to get access

Abstract

Achondroplasia, Duchenne muscular dystrophy, and osteogenesis imperfecta are among the most frequent rare genetic disorders affecting the musculoskeletal system in children. Rare genetic disorders are severely disabling and can have substantial impacts on families, children, and on healthcare systems. This literature review aims to classify, summarize and compare these non-medical impacts of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta.
Appendix
Available only for authorised users
Literature
1.
go back to reference Schieppati A, Henter JI, Daina E, Aperia A: Why rare diseases are an important medical and social issue. Lancet 2008, 371: 2039–2041. 10.1016/S0140-6736(08)60872-7CrossRefPubMed Schieppati A, Henter JI, Daina E, Aperia A: Why rare diseases are an important medical and social issue. Lancet 2008, 371: 2039–2041. 10.1016/S0140-6736(08)60872-7CrossRefPubMed
2.
go back to reference Ayme S, Kole A, Groft S: Empowerment of patients: lessons from the rare diseases community. Lancet 2008, 371: 2048–2051. 10.1016/S0140-6736(08)60875-2CrossRefPubMed Ayme S, Kole A, Groft S: Empowerment of patients: lessons from the rare diseases community. Lancet 2008, 371: 2048–2051. 10.1016/S0140-6736(08)60875-2CrossRefPubMed
3.
go back to reference Kole A, Faurisson F: The Voice of 12,000 Patients: Experiences and expectations of rare disease patients on diagnosis and care in Europe. Eurodis edition. 2009. Kole A, Faurisson F: The Voice of 12,000 Patients: Experiences and expectations of rare disease patients on diagnosis and care in Europe. Eurodis edition. 2009.
4.
go back to reference Wallander JL, Varni JW: Effects of pediatric chronic physical disorders on child and family adjustment. J Child Psychol Psychiatry 1998, 39: 29–46. 10.1017/S0021963097001741CrossRefPubMed Wallander JL, Varni JW: Effects of pediatric chronic physical disorders on child and family adjustment. J Child Psychol Psychiatry 1998, 39: 29–46. 10.1017/S0021963097001741CrossRefPubMed
5.
go back to reference Anderson M, Elliott EJ, Zurynski YA: Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet J Rare Dis 2013, 8: 22. 10.1186/1750-1172-8-22PubMedCentralCrossRefPubMed Anderson M, Elliott EJ, Zurynski YA: Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet J Rare Dis 2013, 8: 22. 10.1186/1750-1172-8-22PubMedCentralCrossRefPubMed
6.
go back to reference Shahbazi S, Moghaddam-Banaem L, Ekhtesari F, Ala FA: Impact of inherited bleeding disorders on pregnancy and postpartum hemorrhage. Blood Coagul Fibrinolysis 2012, 23: 603–607. 10.1097/MBC.0b013e3283566af9CrossRefPubMed Shahbazi S, Moghaddam-Banaem L, Ekhtesari F, Ala FA: Impact of inherited bleeding disorders on pregnancy and postpartum hemorrhage. Blood Coagul Fibrinolysis 2012, 23: 603–607. 10.1097/MBC.0b013e3283566af9CrossRefPubMed
7.
go back to reference Boekaerts M, Roder I: Stress, coping, and adjustment in children with a chronic disease: a review of the literature. Disabil Rehabil 1999, 21: 311–337. 10.1080/096382899297576CrossRefPubMed Boekaerts M, Roder I: Stress, coping, and adjustment in children with a chronic disease: a review of the literature. Disabil Rehabil 1999, 21: 311–337. 10.1080/096382899297576CrossRefPubMed
9.
go back to reference Daudt HM, van Mossel C, Scott SJ: Enhancing the scoping study methodology: a large, inter-professional team's experience with Arksey and O'Malley's framework. BMC Med Res Methodol 2013, 13: 48. 10.1186/1471-2288-13-48PubMedCentralCrossRefPubMed Daudt HM, van Mossel C, Scott SJ: Enhancing the scoping study methodology: a large, inter-professional team's experience with Arksey and O'Malley's framework. BMC Med Res Methodol 2013, 13: 48. 10.1186/1471-2288-13-48PubMedCentralCrossRefPubMed
10.
go back to reference Brien SE, Lorenzetti DL, Lewis S, Kennedy J, Ghali WA: Overview of a formal scoping review on health system report cards. Implementation Science 2010, 5: 2. 10.1186/1748-5908-5-2PubMedCentralCrossRefPubMed Brien SE, Lorenzetti DL, Lewis S, Kennedy J, Ghali WA: Overview of a formal scoping review on health system report cards. Implementation Science 2010, 5: 2. 10.1186/1748-5908-5-2PubMedCentralCrossRefPubMed
11.
go back to reference Arksey H, O'Malley L: Scoping studies: towards a methodological framework. Int J Soc Res Methodol 2005, 8: 19–32. 10.1080/1364557032000119616CrossRef Arksey H, O'Malley L: Scoping studies: towards a methodological framework. Int J Soc Res Methodol 2005, 8: 19–32. 10.1080/1364557032000119616CrossRef
12.
go back to reference Saldaña J: The Coding Manula for Qualitative Researchers. Sage Publications, Los Angeles; 2013. Saldaña J: The Coding Manula for Qualitative Researchers. Sage Publications, Los Angeles; 2013.
13.
go back to reference Ain MC, Abdullah MA, Ting BL, Skolasky RL, Carlisle ES, Schkrohowsky JG, Rigamonti D: Progression of low back and lower extremity pain in a cohort of patients with achondroplasia. J Neurosurg Spine 2010, 13: 335–340. 10.3171/2010.3.SPINE09629CrossRefPubMed Ain MC, Abdullah MA, Ting BL, Skolasky RL, Carlisle ES, Schkrohowsky JG, Rigamonti D: Progression of low back and lower extremity pain in a cohort of patients with achondroplasia. J Neurosurg Spine 2010, 13: 335–340. 10.3171/2010.3.SPINE09629CrossRefPubMed
14.
go back to reference Gollust SE, Thompson RE, Gooding HC, Biesecker BB: Living with achondroplasia: attitudes toward population screening and correlation with quality of life. Prenat Diagn 2003, 23: 1003–1008. 10.1002/pd.743CrossRefPubMed Gollust SE, Thompson RE, Gooding HC, Biesecker BB: Living with achondroplasia: attitudes toward population screening and correlation with quality of life. Prenat Diagn 2003, 23: 1003–1008. 10.1002/pd.743CrossRefPubMed
15.
go back to reference Kim S-J, Balce GC, Agashe MV, Song S-H, Song H-R: Is bilateral lower limb lengthening appropriate for Achondroplasia? Midterm analysis of the complications and quality of life. Clin Orthop Relat Res 2012, 470: 616–621. 10.1007/s11999-011-1983-yPubMedCentralCrossRefPubMed Kim S-J, Balce GC, Agashe MV, Song S-H, Song H-R: Is bilateral lower limb lengthening appropriate for Achondroplasia? Midterm analysis of the complications and quality of life. Clin Orthop Relat Res 2012, 470: 616–621. 10.1007/s11999-011-1983-yPubMedCentralCrossRefPubMed
16.
go back to reference Abi Daoud MS, Dooley JM, Gordon KE: Depression in parents of children with Duchenne muscular dystrophy. Pediatr Neurol 2004, 31: 16–19. 10.1016/j.pediatrneurol.2004.01.011CrossRefPubMed Abi Daoud MS, Dooley JM, Gordon KE: Depression in parents of children with Duchenne muscular dystrophy. Pediatr Neurol 2004, 31: 16–19. 10.1016/j.pediatrneurol.2004.01.011CrossRefPubMed
17.
go back to reference Acharya K, Ackerman PD, Ross LF: Pediatricians' attitudes toward expanding newborn screening. Pediatrics 2005, 116: E476-E482. 10.1542/peds.2005-0453CrossRefPubMed Acharya K, Ackerman PD, Ross LF: Pediatricians' attitudes toward expanding newborn screening. Pediatrics 2005, 116: E476-E482. 10.1542/peds.2005-0453CrossRefPubMed
18.
go back to reference Arias R, Andrews J, Pandya S, Pettit K, Trout C, Apkon S, Karwoski J, Cunniff C, Matthews D, Miller T, Davis MF, Meaney FJ: Palliative care services in families of males with Duchenne muscular dystrophy. Muscle Nerve 2011, 44: 93–101. 10.1002/mus.22005CrossRefPubMed Arias R, Andrews J, Pandya S, Pettit K, Trout C, Apkon S, Karwoski J, Cunniff C, Matthews D, Miller T, Davis MF, Meaney FJ: Palliative care services in families of males with Duchenne muscular dystrophy. Muscle Nerve 2011, 44: 93–101. 10.1002/mus.22005CrossRefPubMed
19.
go back to reference Baiardini I, Minetti C, Bonifacino S, Porcu A, Klersy C, Petralia P, Balestracci S, Tarchino F, Parodi S, Canonica GW, Braido F: Quality of life in Duchenne muscular dystrophy: the subjective impact on children and parents. J Child Neurol 2011, 26: 707–713. 10.1177/0883073810389043CrossRefPubMed Baiardini I, Minetti C, Bonifacino S, Porcu A, Klersy C, Petralia P, Balestracci S, Tarchino F, Parodi S, Canonica GW, Braido F: Quality of life in Duchenne muscular dystrophy: the subjective impact on children and parents. J Child Neurol 2011, 26: 707–713. 10.1177/0883073810389043CrossRefPubMed
20.
go back to reference Bendixen RM, Senesac C, Lott DJ, Vandenborne K: Participation and quality of life in children with Duchenne muscular dystrophy using the International Classification of Functioning, Disability, and Health. Health Qual Life Outcomes 2012, 10: 43. 10.1186/1477-7525-10-43PubMedCentralCrossRefPubMed Bendixen RM, Senesac C, Lott DJ, Vandenborne K: Participation and quality of life in children with Duchenne muscular dystrophy using the International Classification of Functioning, Disability, and Health. Health Qual Life Outcomes 2012, 10: 43. 10.1186/1477-7525-10-43PubMedCentralCrossRefPubMed
21.
go back to reference Beresford BA, Sloper P: Chronically ill adolescents' experiences of communicating with doctors: a qualitative study. J Adolesc Health 2003, 33: 172–179. 10.1016/S1054-139X(03)00047-8CrossRefPubMed Beresford BA, Sloper P: Chronically ill adolescents' experiences of communicating with doctors: a qualitative study. J Adolesc Health 2003, 33: 172–179. 10.1016/S1054-139X(03)00047-8CrossRefPubMed
22.
go back to reference Bray P, Bundy AC, Ryan MM, North KN, Burns J: Health status of boys with Duchenne muscular dystrophy: a parent’s perspective. J Paediatr Child Health 2011, 47: 557–562. 10.1111/j.1440-1754.2011.02022.xCrossRefPubMed Bray P, Bundy AC, Ryan MM, North KN, Burns J: Health status of boys with Duchenne muscular dystrophy: a parent’s perspective. J Paediatr Child Health 2011, 47: 557–562. 10.1111/j.1440-1754.2011.02022.xCrossRefPubMed
23.
go back to reference Bray P, Bundy AC, Ryan MM, North KN, Everett A: Health-related quality of life in boys with Duchenne muscular dystrophy: agreement between parents and their sons. J Child Neurol 2010, 25: 1188–1194. 10.1177/0883073809357624CrossRefPubMed Bray P, Bundy AC, Ryan MM, North KN, Everett A: Health-related quality of life in boys with Duchenne muscular dystrophy: agreement between parents and their sons. J Child Neurol 2010, 25: 1188–1194. 10.1177/0883073809357624CrossRefPubMed
24.
go back to reference Chen JY: Mediators affecting family function in families of children with Duchenne muscular dystrophy. Gaoxiong Yi Xue Ke Xue Za Zhi 2008, 24: 514–522.PubMed Chen JY: Mediators affecting family function in families of children with Duchenne muscular dystrophy. Gaoxiong Yi Xue Ke Xue Za Zhi 2008, 24: 514–522.PubMed
25.
go back to reference Chen JY, Chen SS, Jong YJ, Yang YH, Chang YY: A comparison of the stress and coping strategies between the parents of children with Duchenne muscular dystrophy and children with a fever. J Pediatr Nurs 2002, 17: 369–379. 10.1053/jpdn.2002.123525CrossRefPubMed Chen JY, Chen SS, Jong YJ, Yang YH, Chang YY: A comparison of the stress and coping strategies between the parents of children with Duchenne muscular dystrophy and children with a fever. J Pediatr Nurs 2002, 17: 369–379. 10.1053/jpdn.2002.123525CrossRefPubMed
26.
go back to reference Chen JY, Clark MJ: Family function in families of children with Duchenne muscular dystrophy. Fam Community Health 2007, 30: 296–304. 10.1097/01.FCH.0000290542.10458.f8CrossRefPubMed Chen JY, Clark MJ: Family function in families of children with Duchenne muscular dystrophy. Fam Community Health 2007, 30: 296–304. 10.1097/01.FCH.0000290542.10458.f8CrossRefPubMed
27.
go back to reference Chen J-Y, Clark M-J: Family resources and parental health in families of children with Duchenne muscular dystrophy. J Nurs Res 2010, 18: 239–248. 10.1097/JNR.0b013e3181fbe37bCrossRefPubMed Chen J-Y, Clark M-J: Family resources and parental health in families of children with Duchenne muscular dystrophy. J Nurs Res 2010, 18: 239–248. 10.1097/JNR.0b013e3181fbe37bCrossRefPubMed
28.
go back to reference Cyrulnik SE, Fee RJ, Batchelder A, Kiefel J, Goldstein E, Hinton VJ: Cognitive and adaptive deficits in young children with Duchenne muscular dystrophy (DMD). J Int Neuropsychol Soc 2008, 14: 853–861. 10.1017/S135561770808106XCrossRefPubMed Cyrulnik SE, Fee RJ, Batchelder A, Kiefel J, Goldstein E, Hinton VJ: Cognitive and adaptive deficits in young children with Duchenne muscular dystrophy (DMD). J Int Neuropsychol Soc 2008, 14: 853–861. 10.1017/S135561770808106XCrossRefPubMed
29.
go back to reference Fee RJ, Hinton VJ: Resilience in children diagnosed with a chronic neuromuscular disorder. J Dev Behav Pediatr 2011, 32: 644–650. 10.1097/DBP.0b013e318235d614PubMedCentralCrossRefPubMed Fee RJ, Hinton VJ: Resilience in children diagnosed with a chronic neuromuscular disorder. J Dev Behav Pediatr 2011, 32: 644–650. 10.1097/DBP.0b013e318235d614PubMedCentralCrossRefPubMed
30.
go back to reference Firth M, Gardnermedwin D, Hosking G, Wilkinson E: Interviews with parents of boys suffering from Duchenne muscular-dystrophy. Dev Med Child Neurol 1983, 25: 466–471. 10.1111/j.1469-8749.1983.tb13791.xCrossRefPubMed Firth M, Gardnermedwin D, Hosking G, Wilkinson E: Interviews with parents of boys suffering from Duchenne muscular-dystrophy. Dev Med Child Neurol 1983, 25: 466–471. 10.1111/j.1469-8749.1983.tb13791.xCrossRefPubMed
31.
go back to reference Garralda ME, McConachie H, Le Couteur A, Sriranjan S, Chakrabarti I, Cirak S, Guglieri M, Bushby K, Muntoni F: Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy. Child Care Health Dev 2013, 39: 449–455. 10.1111/j.1365-2214.2012.01387.xCrossRefPubMed Garralda ME, McConachie H, Le Couteur A, Sriranjan S, Chakrabarti I, Cirak S, Guglieri M, Bushby K, Muntoni F: Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy. Child Care Health Dev 2013, 39: 449–455. 10.1111/j.1365-2214.2012.01387.xCrossRefPubMed
32.
go back to reference Garralda ME, Muntoni F, Cunniff A, Caneja AD: Knee-ankle-foot orthosis in children with duchenne muscular dystrophy: user views and adjustment. Eur J Paediatr Neurol 2006, 10: 186–191. 10.1016/j.ejpn.2006.07.002CrossRefPubMed Garralda ME, Muntoni F, Cunniff A, Caneja AD: Knee-ankle-foot orthosis in children with duchenne muscular dystrophy: user views and adjustment. Eur J Paediatr Neurol 2006, 10: 186–191. 10.1016/j.ejpn.2006.07.002CrossRefPubMed
33.
go back to reference Hanayama K, Liu M, Higuchi Y, Fujiwara T, Tsuji T, Hase K, Ishihara T: Dysphagia in patients with Duchenne muscular dystrophy evaluated with a questionnaire and videofluorography. Disabil Rehabil 2008, 30: 517–522. 10.1080/09638280701355595CrossRefPubMed Hanayama K, Liu M, Higuchi Y, Fujiwara T, Tsuji T, Hase K, Ishihara T: Dysphagia in patients with Duchenne muscular dystrophy evaluated with a questionnaire and videofluorography. Disabil Rehabil 2008, 30: 517–522. 10.1080/09638280701355595CrossRefPubMed
34.
go back to reference Hendriksen JG, Poysky JT, Schrans DG, Schouten EG, Aldenkamp AP, Vles JS: Psychosocial adjustment in males with Duchenne muscular dystrophy: psychometric properties and clinical utility of a parent-report questionnaire. J Pediatr Psychol 2009, 34: 69–78. 10.1093/jpepsy/jsn067CrossRefPubMed Hendriksen JG, Poysky JT, Schrans DG, Schouten EG, Aldenkamp AP, Vles JS: Psychosocial adjustment in males with Duchenne muscular dystrophy: psychometric properties and clinical utility of a parent-report questionnaire. J Pediatr Psychol 2009, 34: 69–78. 10.1093/jpepsy/jsn067CrossRefPubMed
35.
go back to reference James CA, Hadley DW, Holtzman NA, Winkelstein JA: How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma, and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases. Genet Med 2006, 8: 234–242. 10.1097/01.gim.0000215177.28010.6eCrossRefPubMed James CA, Hadley DW, Holtzman NA, Winkelstein JA: How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma, and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases. Genet Med 2006, 8: 234–242. 10.1097/01.gim.0000215177.28010.6eCrossRefPubMed
36.
go back to reference Jarvinen O, Lehesjoki AE, Lindlof M, Uutela A, Kaariainen H: Carrier testing of children for two X-linked diseases: a retrospective study of comprehension of the test results and social and psychological significance of the testing. Pediatrics 2000, 106: 1460–1465. 10.1542/peds.106.6.1460CrossRefPubMed Jarvinen O, Lehesjoki AE, Lindlof M, Uutela A, Kaariainen H: Carrier testing of children for two X-linked diseases: a retrospective study of comprehension of the test results and social and psychological significance of the testing. Pediatrics 2000, 106: 1460–1465. 10.1542/peds.106.6.1460CrossRefPubMed
37.
go back to reference Jutai J, Rigby P, Ryan S, Stickel S: Psychosocial impact of electronic aids to daily living. Assist Technol 2000, 12: 123–131. 10.1080/10400435.2000.10132018CrossRefPubMed Jutai J, Rigby P, Ryan S, Stickel S: Psychosocial impact of electronic aids to daily living. Assist Technol 2000, 12: 123–131. 10.1080/10400435.2000.10132018CrossRefPubMed
38.
go back to reference Kemper AR, Wake MA: Duchenne muscular dystrophy: issues in expanding newborn screening. Curr Opin Pediatr 2007, 19: 700–704. 10.1097/MOP.0b013e3282f19f65CrossRefPubMed Kemper AR, Wake MA: Duchenne muscular dystrophy: issues in expanding newborn screening. Curr Opin Pediatr 2007, 19: 700–704. 10.1097/MOP.0b013e3282f19f65CrossRefPubMed
39.
go back to reference Kenneson A, Bobo JK: The effect of caregiving on women in families with Duchenne/Becker muscular dystrophy. Health Soc Care Community 2010, 18: 520–528. 10.1111/j.1365-2524.2010.00930.xCrossRefPubMed Kenneson A, Bobo JK: The effect of caregiving on women in families with Duchenne/Becker muscular dystrophy. Health Soc Care Community 2010, 18: 520–528. 10.1111/j.1365-2524.2010.00930.xCrossRefPubMed
40.
go back to reference Kinali M, Manzur AY, Mercuri E, Gibson BE, Hartley L, Simonds AK, Muntoni F: UK physicians' attitudes and practices in long-term non-invasive ventilation of Duchenne Muscular Dystrophy. Pediatr Rehabil 2006, 9: 351–364.PubMed Kinali M, Manzur AY, Mercuri E, Gibson BE, Hartley L, Simonds AK, Muntoni F: UK physicians' attitudes and practices in long-term non-invasive ventilation of Duchenne Muscular Dystrophy. Pediatr Rehabil 2006, 9: 351–364.PubMed
41.
go back to reference Kohler M, Clarenbach CF, Boeni L, Brack T, Russi EW, Bloch KE: Quality of life, physical disability, and respiratory impairment in Duchenne muscular dystrophy. Am J Respir Crit Care Med 2005, 172: 1032–1036. 10.1164/rccm.200503-322OCCrossRefPubMed Kohler M, Clarenbach CF, Boeni L, Brack T, Russi EW, Bloch KE: Quality of life, physical disability, and respiratory impairment in Duchenne muscular dystrophy. Am J Respir Crit Care Med 2005, 172: 1032–1036. 10.1164/rccm.200503-322OCCrossRefPubMed
42.
go back to reference Manzur AY, Kinali M, Muntoni F: Update on the management of Duchenne muscular dystrophy. Arch Dis Child 2008, 93: 986–990. 10.1136/adc.2007.118141CrossRefPubMed Manzur AY, Kinali M, Muntoni F: Update on the management of Duchenne muscular dystrophy. Arch Dis Child 2008, 93: 986–990. 10.1136/adc.2007.118141CrossRefPubMed
43.
go back to reference Marini A, Lorusso ML, D'Angelo MG, Civati F, Turconi AC, Fabbro F, Bresolin N: Evaluation of narrative abilities in patients suffering from Duchenne Muscular Dystrophy. Brain Lang 2007, 102: 1–12. 10.1016/j.bandl.2007.02.003CrossRefPubMed Marini A, Lorusso ML, D'Angelo MG, Civati F, Turconi AC, Fabbro F, Bresolin N: Evaluation of narrative abilities in patients suffering from Duchenne Muscular Dystrophy. Brain Lang 2007, 102: 1–12. 10.1016/j.bandl.2007.02.003CrossRefPubMed
44.
go back to reference Pangalila RF, van den Bos GA, Stam HJ, van Exel NJ, Brouwer WB, Roebroeck ME: Subjective caregiver burden of parents of adults with Duchenne muscular dystrophy. Disabil Rehabil 2012, 34: 988–996. 10.3109/09638288.2011.628738CrossRefPubMed Pangalila RF, van den Bos GA, Stam HJ, van Exel NJ, Brouwer WB, Roebroeck ME: Subjective caregiver burden of parents of adults with Duchenne muscular dystrophy. Disabil Rehabil 2012, 34: 988–996. 10.3109/09638288.2011.628738CrossRefPubMed
45.
go back to reference Parker AE, Robb SA, Chambers J, Davidson AC, Evans K, O'Dowd J, Williams AJ, Howard RS: Analysis of an adult Duchenne muscular dystrophy population. QJM 2005, 98: 729–736. 10.1093/qjmed/hci113CrossRefPubMed Parker AE, Robb SA, Chambers J, Davidson AC, Evans K, O'Dowd J, Williams AJ, Howard RS: Analysis of an adult Duchenne muscular dystrophy population. QJM 2005, 98: 729–736. 10.1093/qjmed/hci113CrossRefPubMed
46.
go back to reference Parsons EP, Clarke AJ, Hood K, Lycett E, Bradley DM: Newborn screening for Duchenne muscular dystrophy: a psychosocial study. Arch Dis Child Fetal Neonatal Ed 2002, 86: F91-F95. 10.1136/fn.86.2.F91PubMedCentralCrossRefPubMed Parsons EP, Clarke AJ, Hood K, Lycett E, Bradley DM: Newborn screening for Duchenne muscular dystrophy: a psychosocial study. Arch Dis Child Fetal Neonatal Ed 2002, 86: F91-F95. 10.1136/fn.86.2.F91PubMedCentralCrossRefPubMed
47.
go back to reference Pehler SR, Craft-Rosenberg M: Longing: the lived experience of spirituality in adolescents with Duchenne muscular dystrophy. J Pediatr Nurs 2009, 24: 481–494. 10.1016/j.pedn.2008.06.008PubMedCentralCrossRefPubMed Pehler SR, Craft-Rosenberg M: Longing: the lived experience of spirituality in adolescents with Duchenne muscular dystrophy. J Pediatr Nurs 2009, 24: 481–494. 10.1016/j.pedn.2008.06.008PubMedCentralCrossRefPubMed
48.
go back to reference Read J, Kinali M, Muntoni F, Garralda ME: Psychosocial adjustment in siblings of young people with Duchenne muscular dystrophy. Eur J Paediatr Neurol 2010, 14: 340–348. 10.1016/j.ejpn.2009.09.011CrossRefPubMed Read J, Kinali M, Muntoni F, Garralda ME: Psychosocial adjustment in siblings of young people with Duchenne muscular dystrophy. Eur J Paediatr Neurol 2010, 14: 340–348. 10.1016/j.ejpn.2009.09.011CrossRefPubMed
49.
go back to reference Read J, Kinali M, Muntoni F, Weaver T, Garralda ME: Siblings of young people with Duchenne muscular dystrophy - A qualitative study of impact and coping. Eur J Paediatr Neurol 2011, 15: 21–28. 10.1016/j.ejpn.2010.07.006CrossRefPubMed Read J, Kinali M, Muntoni F, Weaver T, Garralda ME: Siblings of young people with Duchenne muscular dystrophy - A qualitative study of impact and coping. Eur J Paediatr Neurol 2011, 15: 21–28. 10.1016/j.ejpn.2010.07.006CrossRefPubMed
50.
go back to reference Simon VA, Resende MB, Simon MA, Zanoteli E, Reed UC: Duchenne muscular dystrophy: quality of life among 95 patients evaluated using the Life Satisfaction Index for Adolescents. Arq Neuropsiquiatr 2011, 69: 19–22. 10.1590/S0004-282X2011000100005CrossRefPubMed Simon VA, Resende MB, Simon MA, Zanoteli E, Reed UC: Duchenne muscular dystrophy: quality of life among 95 patients evaluated using the Life Satisfaction Index for Adolescents. Arq Neuropsiquiatr 2011, 69: 19–22. 10.1590/S0004-282X2011000100005CrossRefPubMed
51.
go back to reference Steele M, Taylor E, Young C, McGrath P, Lyttle BD, Davidson B: Mental health of children and adolescents with Duchenne muscular dystrophy. Dev Med Child Neurol 2008, 50: 638–639. 10.1111/j.1469-8749.2008.03024.xCrossRefPubMed Steele M, Taylor E, Young C, McGrath P, Lyttle BD, Davidson B: Mental health of children and adolescents with Duchenne muscular dystrophy. Dev Med Child Neurol 2008, 50: 638–639. 10.1111/j.1469-8749.2008.03024.xCrossRefPubMed
52.
go back to reference Uzark K, King E, Cripe L, Spicer R, Sage J, Kinnett K, Wong B, Pratt J, Varni JW: Health-related quality of life in children and adolescents with Duchenne muscular dystrophy. Pediatrics 2012, 130: E1559-E1566. 10.1542/peds.2012-0858CrossRefPubMed Uzark K, King E, Cripe L, Spicer R, Sage J, Kinnett K, Wong B, Pratt J, Varni JW: Health-related quality of life in children and adolescents with Duchenne muscular dystrophy. Pediatrics 2012, 130: E1559-E1566. 10.1542/peds.2012-0858CrossRefPubMed
53.
go back to reference van Wijk E, Messelink BJ, Heijnen L, de Groot IJ: Prevalence and psychosocial impact of lower urinary tract symptoms in patients with Duchenne muscular dystrophy. Neuromuscul Disord 2009, 19: 754–758. 10.1016/j.nmd.2009.07.009CrossRefPubMed van Wijk E, Messelink BJ, Heijnen L, de Groot IJ: Prevalence and psychosocial impact of lower urinary tract symptoms in patients with Duchenne muscular dystrophy. Neuromuscul Disord 2009, 19: 754–758. 10.1016/j.nmd.2009.07.009CrossRefPubMed
54.
go back to reference Vandervelde L, Van den Bergh PY, Goemans N, Thonnard JL: Activity limitations in patients with neuromuscular disorders: a responsiveness study of the ACTIVLIM questionnaire. Neuromuscul Disord 2009, 19: 99–103. 10.1016/j.nmd.2008.11.004CrossRefPubMed Vandervelde L, Van den Bergh PY, Goemans N, Thonnard JL: Activity limitations in patients with neuromuscular disorders: a responsiveness study of the ACTIVLIM questionnaire. Neuromuscul Disord 2009, 19: 99–103. 10.1016/j.nmd.2008.11.004CrossRefPubMed
55.
go back to reference Balkefors V, Mattsson E, Pernow Y, Saaf M: Functioning and quality of life in adults with mild-to-moderate osteogenesis imperfecta. Physiother Res Int 2012, ᅟ: ᅟ. Balkefors V, Mattsson E, Pernow Y, Saaf M: Functioning and quality of life in adults with mild-to-moderate osteogenesis imperfecta. Physiother Res Int 2012, ᅟ: ᅟ.
56.
go back to reference Bernehall Claesson I, Brodin J: What families with children with brittle bones want to tell. Child Care Health Dev 2002, 28: 309–315. 10.1046/j.1365-2214.2002.00282.xCrossRefPubMed Bernehall Claesson I, Brodin J: What families with children with brittle bones want to tell. Child Care Health Dev 2002, 28: 309–315. 10.1046/j.1365-2214.2002.00282.xCrossRefPubMed
57.
go back to reference Brodin J: Children and adolescents with brittle bones - psychosocial-aspects. Child Care Health Dev 1993, 19: 341–347. 10.1111/j.1365-2214.1993.tb00738.xCrossRefPubMed Brodin J: Children and adolescents with brittle bones - psychosocial-aspects. Child Care Health Dev 1993, 19: 341–347. 10.1111/j.1365-2214.1993.tb00738.xCrossRefPubMed
58.
go back to reference Cole DE: Psychosocial aspects of osteogenesis imperfecta: an update. Am J Med Genet 1993, 45: 207–211. 10.1002/ajmg.1320450211CrossRefPubMed Cole DE: Psychosocial aspects of osteogenesis imperfecta: an update. Am J Med Genet 1993, 45: 207–211. 10.1002/ajmg.1320450211CrossRefPubMed
59.
go back to reference Daly K, Wisbeach A, Sanpera I Jr, Fixsen JA: The prognosis for walking in osteogenesis imperfecta. J Bone Joint Surg Br 1996, 78: 477–480.PubMed Daly K, Wisbeach A, Sanpera I Jr, Fixsen JA: The prognosis for walking in osteogenesis imperfecta. J Bone Joint Surg Br 1996, 78: 477–480.PubMed
60.
go back to reference Engelbert RH, Uiterwaal CS, Gulmans VA, Pruijs H, Helders PJ: Osteogenesis imperfecta in childhood: prognosis for walking. J Pediatr 2000, 137: 397–402. 10.1067/mpd.2000.107892CrossRefPubMed Engelbert RH, Uiterwaal CS, Gulmans VA, Pruijs H, Helders PJ: Osteogenesis imperfecta in childhood: prognosis for walking. J Pediatr 2000, 137: 397–402. 10.1067/mpd.2000.107892CrossRefPubMed
61.
go back to reference Kok DJ, Uiterwaal C, van Dongen AJ, Kramer PPG, Pruijs HEH, Engelbert RHH, Verbout AJ, Schweitzer DH, Sakkers RJB: The interaction between Sillence type and BMD in osteogenesis imperfecta. Calcif Tissue Int 2003, 73: 441–445. 10.1007/s00223-002-2101-7CrossRefPubMed Kok DJ, Uiterwaal C, van Dongen AJ, Kramer PPG, Pruijs HEH, Engelbert RHH, Verbout AJ, Schweitzer DH, Sakkers RJB: The interaction between Sillence type and BMD in osteogenesis imperfecta. Calcif Tissue Int 2003, 73: 441–445. 10.1007/s00223-002-2101-7CrossRefPubMed
62.
go back to reference Montpetit K, Dahan-Oliel N, Ruck-Gibis J, Fassier F, Rauch F, Glorieux F: Activities and participation in young adults with osteogenesis imperfecta. J Pediatr Rehabil Med 2011, 4: 13–22.PubMed Montpetit K, Dahan-Oliel N, Ruck-Gibis J, Fassier F, Rauch F, Glorieux F: Activities and participation in young adults with osteogenesis imperfecta. J Pediatr Rehabil Med 2011, 4: 13–22.PubMed
63.
go back to reference Seikaly MG, Kopanati S, Salhab N, Waber P, Patterson D, Browne R, Herring JA: Impact of alendronate on quality of life in children with osteogenesis imperfecta. J Pediatr Orthop 2005, 25: 786–791. 10.1097/01.bpo.0000176162.78980.edCrossRefPubMed Seikaly MG, Kopanati S, Salhab N, Waber P, Patterson D, Browne R, Herring JA: Impact of alendronate on quality of life in children with osteogenesis imperfecta. J Pediatr Orthop 2005, 25: 786–791. 10.1097/01.bpo.0000176162.78980.edCrossRefPubMed
64.
go back to reference Suskauer SJ, Cintas HL, Marini JC, Gerber LH: Temperament and physical performance in children with Osteogenesis Imperfecta. Pediatrics 2003, 111: e153-e161. 10.1542/peds.111.2.e153CrossRefPubMed Suskauer SJ, Cintas HL, Marini JC, Gerber LH: Temperament and physical performance in children with Osteogenesis Imperfecta. Pediatrics 2003, 111: e153-e161. 10.1542/peds.111.2.e153CrossRefPubMed
65.
go back to reference Szczepaniak-Kubat A, Kurnatowska O, Jakubowska-Pietkiewicz E, Chlebna-Sokol D: Assessment of quality of life of parents of children with Osteogenesis Imperfecta. Adv Clin Exp Med 2012, 21: 99–104.PubMed Szczepaniak-Kubat A, Kurnatowska O, Jakubowska-Pietkiewicz E, Chlebna-Sokol D: Assessment of quality of life of parents of children with Osteogenesis Imperfecta. Adv Clin Exp Med 2012, 21: 99–104.PubMed
66.
go back to reference Tolboom N, Cats EA, Helders PJ, Pruijs JE, Engelbert RH: Osteogenesis imperfecta in childhood: effects of spondylodesis on functional ability, ambulation and perceived competence. Eur Spine J 2004, 13: 108–113. 10.1007/s00586-003-0574-3PubMedCentralCrossRefPubMed Tolboom N, Cats EA, Helders PJ, Pruijs JE, Engelbert RH: Osteogenesis imperfecta in childhood: effects of spondylodesis on functional ability, ambulation and perceived competence. Eur Spine J 2004, 13: 108–113. 10.1007/s00586-003-0574-3PubMedCentralCrossRefPubMed
67.
go back to reference Van Brussel M, Takken T, Uiterwaal C, Pruijs HJ, Van der Net J, Helders PJM, Engelbert RHH: Physical training in children with osteogenesis imperfecta. J Pediatr 2008, 152: 111–116. 10.1016/j.jpeds.2007.06.029CrossRefPubMed Van Brussel M, Takken T, Uiterwaal C, Pruijs HJ, Van der Net J, Helders PJM, Engelbert RHH: Physical training in children with osteogenesis imperfecta. J Pediatr 2008, 152: 111–116. 10.1016/j.jpeds.2007.06.029CrossRefPubMed
68.
69.
go back to reference Widmann RF, Bitan FD, Laplaza J, Burke SW, DiMaio MF, Schneider R: Spinal deformity, pulmonary compromise, and quality of life in osteogenesis imperfecta. Spine 1999, 24: 1673–1678. 10.1097/00007632-199908150-00008CrossRefPubMed Widmann RF, Bitan FD, Laplaza J, Burke SW, DiMaio MF, Schneider R: Spinal deformity, pulmonary compromise, and quality of life in osteogenesis imperfecta. Spine 1999, 24: 1673–1678. 10.1097/00007632-199908150-00008CrossRefPubMed
70.
go back to reference Curran AL, Sharples PM, White C, Knapp M: Time costs of caring for children with severe disabilities compared with caring for children without disabilities. Dev Med Child Neurol 2001, 43: 529–533. 10.1017/S0012162201000962CrossRefPubMed Curran AL, Sharples PM, White C, Knapp M: Time costs of caring for children with severe disabilities compared with caring for children without disabilities. Dev Med Child Neurol 2001, 43: 529–533. 10.1017/S0012162201000962CrossRefPubMed
71.
go back to reference van den Tweel XW, Hatzmann J, Ensink E, van der Lee JH, Peters M, Fijnvandraat K, Grootenhuis M: Quality of life of female caregivers of children with sickle cell disease: a survey. Haematologica 2008, 93: 588–593. 10.3324/haematol.11610CrossRefPubMed van den Tweel XW, Hatzmann J, Ensink E, van der Lee JH, Peters M, Fijnvandraat K, Grootenhuis M: Quality of life of female caregivers of children with sickle cell disease: a survey. Haematologica 2008, 93: 588–593. 10.3324/haematol.11610CrossRefPubMed
72.
go back to reference Zurynski Y, Frith K, Leonard H, Elliott E: Rare childhood diseases: how should we respond? Arch Dis Child 2008, 93: 1071–1074. 10.1136/adc.2007.134940CrossRefPubMed Zurynski Y, Frith K, Leonard H, Elliott E: Rare childhood diseases: how should we respond? Arch Dis Child 2008, 93: 1071–1074. 10.1136/adc.2007.134940CrossRefPubMed
73.
go back to reference Dogba MJ, Bedos C, Durigova M, Montpetit K, Wong T, Glorieux F, Rauch F: The Impact of Severe Osteogenesis Imperfecta on the Lives of Young Patients and Their Parents – a Qualitative Analysis. BMC Pediatr 2013, 13: 153. 10.1186/1471-2431-13-153PubMedCentralCrossRefPubMed Dogba MJ, Bedos C, Durigova M, Montpetit K, Wong T, Glorieux F, Rauch F: The Impact of Severe Osteogenesis Imperfecta on the Lives of Young Patients and Their Parents – a Qualitative Analysis. BMC Pediatr 2013, 13: 153. 10.1186/1471-2431-13-153PubMedCentralCrossRefPubMed
74.
go back to reference Ratliffe CE, Harrigan RC, Haley J, Tse A, Olson T: Stress in families with medically fragile children. Issues Compr Pediatr Nurs 2002, 25: 167–188. 10.1080/01460860290042558CrossRefPubMed Ratliffe CE, Harrigan RC, Haley J, Tse A, Olson T: Stress in families with medically fragile children. Issues Compr Pediatr Nurs 2002, 25: 167–188. 10.1080/01460860290042558CrossRefPubMed
75.
go back to reference Kazak AE, Reber M, Snitzer L: Childhood chronic disease and family functionning- a study of phenylketonuria. Pediatrics 1988, 81: 224–230.PubMed Kazak AE, Reber M, Snitzer L: Childhood chronic disease and family functionning- a study of phenylketonuria. Pediatrics 1988, 81: 224–230.PubMed
76.
go back to reference Battista RN, Blancquaert I, Laberge AM, van Schendel N, Leduc N: Genetics in health care: an overview of current and emerging models. Public Health Genomics 2012, 15: 34–45. 10.1159/000328846CrossRefPubMed Battista RN, Blancquaert I, Laberge AM, van Schendel N, Leduc N: Genetics in health care: an overview of current and emerging models. Public Health Genomics 2012, 15: 34–45. 10.1159/000328846CrossRefPubMed
77.
go back to reference Zurynski Y, Peadon E, Bower C, Elliott EJ: Impacts of national surveillance for uncommon conditions in childhood. J Paediatr Child Health 2007, 43: 724. 10.1111/j.1440-1754.2007.01216.xCrossRefPubMed Zurynski Y, Peadon E, Bower C, Elliott EJ: Impacts of national surveillance for uncommon conditions in childhood. J Paediatr Child Health 2007, 43: 724. 10.1111/j.1440-1754.2007.01216.xCrossRefPubMed
78.
go back to reference Burton H, Sanderson S, Shortland G, Lee P: Needs assessment and review of services for people with inherited metabolic disease in the United Kingdom. J Inherit Metab Dis 2006, 29: 667–676. 10.1007/s10545-006-0374-0CrossRefPubMed Burton H, Sanderson S, Shortland G, Lee P: Needs assessment and review of services for people with inherited metabolic disease in the United Kingdom. J Inherit Metab Dis 2006, 29: 667–676. 10.1007/s10545-006-0374-0CrossRefPubMed
79.
80.
go back to reference Rajmil L, Perestelo-Perez L, Herdman M: Quality of life and rare diseases. Adv Exp Med Biol 2010, 686: 251–272. 10.1007/978-90-481-9485-8_15CrossRefPubMed Rajmil L, Perestelo-Perez L, Herdman M: Quality of life and rare diseases. Adv Exp Med Biol 2010, 686: 251–272. 10.1007/978-90-481-9485-8_15CrossRefPubMed
81.
go back to reference Paterson CR, Rosalind MH: Life expectancy in osteogenesis imperfecta. Br Med J 1996, 312: 351. 10.1136/bmj.312.7027.351CrossRef Paterson CR, Rosalind MH: Life expectancy in osteogenesis imperfecta. Br Med J 1996, 312: 351. 10.1136/bmj.312.7027.351CrossRef
Metadata
Title
Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta
Authors
Maman Joyce Dogba
Frank Rauch
Erin Douglas
Christophe Bedos
Publication date
01-12-2014
Publisher
BioMed Central
Published in
Health and Quality of Life Outcomes / Issue 1/2014
Electronic ISSN: 1477-7525
DOI
https://doi.org/10.1186/s12955-014-0151-y

Other articles of this Issue 1/2014

Health and Quality of Life Outcomes 1/2014 Go to the issue