Health-related quality of life in patients with diastrophic dysplasia

Abstract

Diastrophic dysplasia (DD), a congenital skeletal dysplasia, is characterized by short, disproportionate stature, multiple severe spinal and joint deformities, and normal mental status. The health-related quality of life (HRQOL) of patients with DD was measured by a standardized fifteen-dimensional (15D) method, that includes a questionnaire and a valuation task. Eighteen patients (5 males and 13 females) with a mean age of 23 years (range 17 - 31 years), representing half of the Finnish patients with DD in this age group, completed the questionnaire and the valuation task. The data obtained were compared with those of 273 age- and sex-matched controls. A 15D profile was drawn, and the average importance weight of each dimension and the average within-dimension level values were calculated for both groups. The average 15D score, describing the overall HRQOL, was derived for both groups using the valuations of each group. The health profiles of the groups differed significantly in several dimensions. When the health levels within the dimensions were concerned, the controls rated all values deviating from ``normal'' lower than did the patients. The average 15D scores of the patients with DD were significantly lower than those of the controls. The 15D scores were higher in both groups when the valuations of the patients with DD were used. The study showed that, although the overall HRQOL of the patients with DD was inferior to that of the controls, the patients showed greater adaptability to deviations in health status than did the controls.

Keywords

short-limbed dwarfism congenital bone dysplasia progressive deformation health quality of life.

Get full access to this article

View all access options for this article.

References

Lamy M. , Maroteaux P. Le nanisme diastrophique. Presse Med 1960; 68: 1977-80.

Hästbacka J. , de la Chapelle A. , Mahtani M. , et al. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 1994; 78: 1073-87.

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: 610-13.

Hollister D. , Lachman R. Diastrophic dwarfism. Clin Orthop 1976; 114: 61 - 9.

Kopits S. Orthopedic complications of dwarfism. Clin Orthop 1976; 114: 153-79.

Walker BA , Scott CI , Hall JG , Murdoch JL , McKusick VA Diastrophic dwarfism. Medicine 1972; 51: 41-59.

Mäkitie O. , Kaitila I. Growth in diastrophic dysplasia. J Pediatr 1997; 130 (4): 641-6.

Peltonen J. , Hoikka V. , Poussa M. , Paavilainen T. , Kaitila I. Cementless hip arthroplasty in diastrophic dysplasia. J Arthroplasty 1992; 7: 369 - 76.

Poussa M. , Merikanto J. , Ryöppy S. , Marttinen E. , Kaitila I. The spine in diastrophic dysplasia. Spine 1991; 16/8: 881 - 7.

10.

Ryöppy S. , Poussa M. , Merikanto J. , Marttinen E. , Kaitila I. Deformities of the lower extremities in diastrophic dysplasia. Acta Orthop Scand 1990; 237 Suppl 61: 49-50.

11.

Ryöppy S. , Poussa M. , Merikanto J. , Marttinen E. , Kaitila I. Foot deformities in diastrophic dysplasia. J Bone Joint Surg Br 1992; 74: 441-4.

12.

Vaara P. , Peltonen J. , Poussa M. , et al. Development of the hip in diastrophic dysplasia. J Bone Joint Surg Br 1998;80: 315-20.

13.

Kaitila I. , Marttinen E. , Merikanto J. , Poussa M. , Ryöppy S. Clinical expression and course of diastrophic dysplasia. Am J Med Genet 1989; 24: 141.

14.

Reinikkala L. , Rannansuu R. , Kaitila I. Vaikean kääpiökasvuisuuden ja fyysisen vammaisuuden aiheuttamat psykososiaaliset ongelmat. (Psychosocial problems related to the physical handicap and severe dwarfism.) Duodecim 1982; 98: 1395-1404.

15.

Pollitt E. , Money J. Studies in the psychology of dwarfism. I Intelligence quotient and school achievement. J Pediatr 1964; 64: 415-21.

16.

Money J. , Pollitt E. Studies in the psychology of dwarfism. II Personality maturation and response to growthhormone treatment. J Pediatr 1966 ; 68: 381-90.

17.

Apajasalo M. , Sintonen H. , Rautonen J. , Kaitila I. Healthrelated quality of life of patients with genetic skeletal dysplasias. Eur J Ped 1998; 157 (2): 114-21.

18.

Revicki DA Health related quality of life in the evaluation of medical therapy for chronic illness. J Fam Pract 1989; 29 (4): 377-80.

19.

Sintonen H. The 15-D measure of health-related quality of life: reliability, validity and sensitivity of its health state descriptive system. Working Paper 41. Fairfield, Australia: National Centre for Health Program Evaluation, 1994.

20.

Sintonen H. The 15D-measure of health-related quality of life. II Feasibility, reliability and validity of its valuation system. Working Paper 42. Fairfield, Australia: National Centre for Health Program Evaluation, 1995.

21.

Sintonen H. , Pekurinen M. A fifteen-dimensional measure of health-related quality of life and its applications . In: Walker S , Rosser R , editors. Quality of life assessment. Key issues in the 1990s. Dordrecht: Kluwer Academic Publishers, 1993: 185-95.

22.

Patrick DL , Bush JW , Chen MM Methods for measuring levels of well-being for a health-status index. Health Serv Res 1973b; 8: 223-45.

23.

Patrick DL , Deyo RA Generic and disease-specific measures in assessing health status and quality of life. Med Care 1989; 27 Suppl 3: S217 - 32.

24.

Rintala A. , Marttinen E. , Rantala S-L. , Kaitila I. Cleft palate in diastrophic dysplasia. Scand J Plast Reconstr Surg 1986; 20: 45-9.

25.

Karlstedt E. Craniofacial, dental, and speech characteristics, and their associations in diastrophic dysplasia. Academic Dissertation, University of Helsinki, 1998.