You are not logged in. Press here to login.

Content

List volumes - List articles in this issue

Original report

Health-related quality of life and socioeconomic situation among diastrophic dysplasia patients in Finland

doi: 10.2340/16501977-1116

Open access

Abstract:

OBJECTIVE: The purpose of the present study was to gain a comprehensive view of the quality of life and socio-economic conditions in a more representative sample of patients with diastrophic dysplasia than previously presented.
METHODS: The study sample comprised 115 patients with diastrophic dysplasia, aged over 18 years. The patients were contacted, and 68 patients (59%) agreed to participate in the study. They answered a structured questionnaire, which included the items of RAND-36 and Finn-Health Assessment Questionnaire (Finn-HAQ) questionnaires. The Finn-HAQ items were linked to the categories of the International Classification of Functioning, Disability and Health (ICF). Population controls for matching the participating patients for age and sex were identified in the Finnish population registry. Demographic and social factors (educational status, employment status and household income) were collected in separated questions.
RESULTS: RAND-36 showed significantly lower physical functioning in the group of diastrophic dysplasia patients than in the control group. Also, the differences in scores for energy and social functioning were significant. In the mental component scales, no significant difference was found between the groups. When compared with the controls, we found significantly lower levels in all 3 ICF components of functioning in the group of patients when Finn-MDHAQ items linked to ICF were used. Almost 75% of patients with diastrophic dysplasia belonged to the group of people with minor/low income. Some or clear worsening of economic situation due to diastrophic dysplasia was reported by 25 (58%) female and 17 (68%) male patients.
CONCLUSION: In their daily living, patients with diastrophic dysplasia have marked physical difficulties, which affect their quality of life, participation in society and their financial situation. It seems that the mental situation is not greatly affected, but a more detailed study is needed to evaluate and illuminate the psychological consequences of this severe skeletal dysplasia. Overall, the pieces of information in the present study are of high importance when designing and reorganizing rehabilitation and in supportive therapy and treatment of patients with diastrophic dysplasia.

Authors:

Liisamari Krüger, Timo Pohjolainen, Ilkka Kaitila, Hannu Kautiainen, Marja Arkela-Kautiainen, Heikki Hurri
Orton Rehabilitation Centre, Helsinki, Finland. E-mail: liisamari.kruger@orton.fi

References

1. Hastbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, et al. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 1994; 78: 1073–1087.

2. Kaitila I. Diastrophic dysplasia. In: Eriksson A, Forsius H, Nevanlinna H, Workman P, Norio R, editors. Population structure and genetic disorders. New York: Academic Press; 1980, p. 610–613.

3. Schramm T, Gloning KP, Minderer S, Daumer-Haas C, Hortnagel K, Nerlich A, et al. Prenatal sonographic diagnosis of skeletal dysplasias. Ultrasound Obstet Gynecol 2009; 34: 160–170.

4. Kopits SE. Orthopedic complications of dwarfism. Clin Orthop Relat Res 1976: 153–179.

5. Peltonen JI, Hoikka V, Poussa M, Paavilainen T, Kaitila I. Cementless hip arthroplasty in diastrophic dysplasia. J Arthroplasty 1992; 7 Suppl: 369–376.

6. Walker BA, Scott CI, Hall JG, Murdoch JL, McKusick VA. Diastrophic dwarfism. Medicine (Baltimore) 1972; 51: 41–59.

7. Hollister DW, Lachman RS. Diastrophic dwarfism. Clin Orthop Relat Res 1976: 61–69.

8. Kaitila I, Marttinen E, Merikanto J, Poussa M, Ryöppy S. Clinical expression and course of diastrophic dysplasia. Am J Med Genet 1989; 34: 141.

9. Poussa M, Merikanto J, Ryoppy S, Marttinen E, Kaitila I. The spine in diastrophic dysplasia. Spine (Phila Pa 1976) 1991; 16: 881–887.

10. Ryoppy S, Poussa M, Merikanto J, Marttinen E, Kaitila I. Deformities of the lower extremities in diastrophic dysplasia. Acta Orthop Scand 1990; 61 Suppl: 49–50.

11. Ryoppy S, Poussa M, Merikanto J, Marttinen E, Kaitila I. Foot deformities in diastrophic dysplasia. An analysis of 102 patients. J Bone Joint Surg Br 1992; 74: 441–444.

12. Vaara P, Peltonen J, Poussa M, Merikanto J, Nurminen M, Kaitila I, et al. Development of the hip in diastrophic dysplasia. J Bone Joint Surg Br 1998; 80: 315–530.

13. Jalanko T, Remes V, Peltonen J, Poussa M, Helenius I. Treatment of spinal deformities in patients with diastrophic dysplasia: a long-term, population based, retrospective outcome study. Spine (Phila Pa 1976) 2009; 34: 2151–2157.

14. Reinikkala L, Rannansuu R, Kaitila I. [Psychosocial problems caused by severe growth retardation and physical handicap.] Duodecim 1982; 98: 1395–1404 (in Finnish).

15. Vaara P, Sintonen H, Peltonen J, Hokkanen H, Poussa M, Ryoppy S. Health-related quality of life in patients with diastrophic dysplasia. Scand J Public Health 1999; 27: 38–42.

16. Hays RD, Sherbourne CD, Mazel RM. The RAND 36-Item Health Survey 1.0. Health Econ 1993; 2: 217–227.

17. Fries JF, Spitz PW, Young DY. The dimensions of health outcomes: the health assessment questionnaire, disability and pain scales. J Rheumatol 1982; 9: 789–793.

18. World Health Organization (WHO). International Classification of Functioning, Disability and Health: ICF. Geneva: World Health Organization; 2001.

19. WHO. Finnish translation of the International Classification of Functioning, Disability and Health. Jyväskylä; 2004.

20. Reed G, Lux J, Bufka L, Peterson D, Threats T, Trask C, et al. Operationalizing the International Classification of Functioning, Disability and Health in clinical settings. Rehabil Psychol 2005; 50: 122–131.

21. Cieza A, Brockow T, Ewert T, Amman E, Kollerits B, Chatterji S, et al. Linking health-status measurements to the international classification of functioning, disability and health. J Rehabil Med 2002; 34: 205–210.

22. Statistics Finland. Official Statistics of Finland (OSF): Income distribution statistics [Internet]. 2008 [Cited 2011 April 7]. Available from: http://www.stat.fi/til/tjt/2008/tjt_2008_2010-05-20_tie_001_en.html.

23. Remes V, Helenius I, Peltonen J, Poussa M, Sovijarvi A. Lung function in diastrophic dysplasia. Pediatr Pulmonol 2002; 33: 277–282.

24. Remes V, Poussa M, Peltonen J. Scoliosis in patients with diastrophic dysplasia: a new classification. Spine (Phila Pa 1976) 2001; 26: 1689–1697.

25. Remes V, Poussa M, Lonnqvist T, Puusa A, Tervahartiala P, Helenius I, et al. Walking ability in patients with diastrophic dysplasia: a clinical, electroneurophysiological, treadmill, and MRI analysis. J Pediatr Orthop 2004; 24: 546–551.

26. Remes V, Tervahartiala P, Poussa M, Peltonen J. Thoracic and lumbar spine in diastrophic dysplasia: a clinical and magnetic resonance imaging analysis. Spine (Phila Pa 1976) 2001; 26: 187–195.

27. Sintonen H. The 15D-mesasure of health-related quality of life. II Feasibility, reliability and validity of its valuation system. Fairfield, Australia: National Centre for Health Program Evaluation; 1995.

28. Haga N. Management of disabilities associated with achondroplasia. J Orthop Sci 2004; 9: 103–107.

29. Gollust SE, Thompson RE, Gooding HC, Biesecker BB. Living with achondroplasia in an average-sized world: an assessment of quality of life. Am J Med Genet A 2003; 120A: 447–458.

30. Storhaug K. Determinants of receipt of assistance benefit and welfare services in a group of disabled adults in Norway. Soc Sci Med 1984; 18: 41–45.

31. Foster HE, Marshall N, Myers A, Dunkley P, Griffiths ID. Outcome in adults with juvenile idiopathic arthritis: a quality of life study. Arthritis Rheum 2003; 48: 767–775.



Related articles

There are no related articles.


Actions


Abstract

Full text

PDF

Supplementary


There is no supplementary for this article.

Related articles


Click here to show related articles

Print information


Volume 45, Issue 3

DOI: 10.2340/16501977-1116

Pages: 308-313

View at PubMed