Clinical and genetic knowledge and attitudes of patients with myotonic dystrophy type 1

Public Health Genomics

Volumn 13, Issue 7-8, 2010, Pages 424-430

  Laberge, L ^a,b,c   Prevost C ^c   Perron, M ^a,b   Mathieu, J ^d   Auclair, J ^a   Gaudreault, M ^a   Richer, L ^b   Jean, S ^d   Veillette, S ^a  

^a Pavillon Manicouagan 6e étage   (Canada)

^b UNIVERSITÉ DU QUÉBEC À CHICOUTIMI   (Canada)

^c Centre Hospitalier Affilié Universitaire Régional CAUR de Chicoutimi   (Canada)

^d Clinique des Maladies Neuromusculaires   (Canada)

Author keywords

Attitudes; Genetic counselling; Genetic knowledge; Myotonic dystrophy; Neuromuscular diseases; Patient experiences; Perceptions

Indexed keywords

ADULT; AGE DISTRIBUTION; ARTICLE; CONTROLLED STUDY; DAILY LIFE ACTIVITY; DISEASE SEVERITY; EDUCATIONAL STATUS; EMPLOYMENT; FEMALE; GENETICS; HETEROZYGOTE; HUMAN; INHERITANCE; INTELLIGENCE QUOTIENT; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MYOTONIC DYSTROPHY; ONSET AGE; PARENTHOOD; PATIENT ATTITUDE; PEER GROUP; PERSONALITY; PHYSICAL ACTIVITY; PRIORITY JOURNAL; QUESTIONNAIRE; SCHOOL; SEX DIFFERENCE;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEALTH KNOWLEDGE, ATTITUDES, PRACTICE; HUMANS; MALE; MIDDLE AGED; MYOTONIC DYSTROPHY; QUESTIONNAIRES; YOUNG ADULT;

EID: 78650224612     PISSN: 16624246     EISSN: None     Source Type: Journal    
DOI: 10.1159/000316238     Document Type: Article

References (30)

1. Harper PS: Myotonic Dystroph, ed 3. Philadelphia, W.B. Saunders, 2001.
2. Harley HG, Brook JD, Rundle SA, Crow S, Reardon W, Buckler AJ, Harper PS, Housman DE, Shaw DJ: Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 1992; 355: 545-546.
3. Fokstuen S, Myring J, Evans C, Harper PS: Presymptomatic testing in myotonic dystrophy: genetic counselling approaches. J Med Genet 2001; 38: 846-850.
4. Harper PS, Brunner HG: Genetic counseling and genetic testing in myotonic dystrophy;in Harper PS, van Engelen BG, Eymard B, Wilcox D (eds): Myotonic Dystrophy: Present Management, Future Therapy, ed 1. Oxford, Oxford University Press, 2004, pp 176-192.
5. Abresch RT, Seyden NK, Wineinger MA: Quality of life. Issues for persons with neuromuscular diseases. Phys Med Rehabil Clin N Am 1998; 9: 233-248.
6. Wilcox DE, Bower M: Sharing information, knowledge, and experience to build a team to help manage myotonic dystrophy; in Harper PS, van Engelen BG, Eymard B, Wilcox D (eds): Myotonic Dystrophy: Present Management, Future Therapy, ed 1. Oxford, Oxford University Press, 2004, pp 193-207.
7. Furr LA, Kelly SE: The Genetic Knowledge Index: developing a standard measure of genetic knowledge. Genet Test 1999; 3: 193-199.
8. Heyer E, Tremblay M: Variability of the genetic contribution of Quebec population founders associated to some deleterious genes. Am J Hum Genet 1995; 56: 970-978.
9. Gauvreau D, Bourque M: Mouvements migratoires et familles: le peuplement du Saguenay avant 1911. Rev Hist Am Fr 1988; 42: 167-192.
10. Roy R, Bouchard G, Declos M: La première génération de Saguenayens; in Bouchard G, de Braekeleer M (eds): Histoire d'un Génome. Québec, Presses de l'Université du Québec, 1991, pp 164-186.
11. De Braekeleer M: Hereditary disorders in Saguenay- Lac-St-Jean (Quebec, Canada). Hum Hered 1991; 41: 141-146.
12. Mathieu J, De Braekeleer M, Prévost C: Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada). Neurology 1990; 40: 839-842.
13. Yotova V, Labuda D, Zietkiewicz E, Gehl D, Lovell A, Lefebvre JF, Bourgeois S, Lemieux- Blanchard E, Labuda M, Vézina H, Houde L, Tremblay M, Toupance B, Heyer E, Hudson TJ, Laberge C: Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec. Hum Genet 2005; 117: 177-187.
14. Mathieu J, Boivin H, Meunier D, Gaudreault M, Bégin P: Assessment of a disease-specific impairment rating scale in myotonic dystrophy. Neurology 2001; 56: 336-340.
15. Koch MC, Grimm T, Harley HG, Harper PS: Genetic risks for children of women with myotonic dystrophy. Am J Hum Genet 1991; 48: 1084-1091.
16. Wechsler D: WAIS-R manual: Wechsler Adult Intelligence Scale - Revised. New York, Psychological Corporation, 1981.
17. Laberge L, Veillette S, Mathieu J, Auclair J, Perron M: The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy. Clin Genet 2007; 71: 59-66.
18. Prévost C, Veillette S, Perron M, Laberge C, Tremblay C, Auclair J, Villeneuve J, Tremblay M, Mathieu J: Psychosocial impact of predictive testing for myotonic dystrophy type 1. Am J Med Genet A 2004; 126A:68-77.
19. Veillette S, Perron M, Mathieu J, Prévost C: Sociocultural factors influencing the spread of myotonic dystrophy in the Saguenay-Lac- Saint-Jean region of the province of Quebec (Canada); in Bittles AH, Roberts DF (eds): Minority Populations. London, The Macmillan Press Ltd, 1990, pp 83-101.
20. Ducharme D, Veillette S, Perron M, Auclair J, Gaudreault M: Les facteurs sociaux liés au degré d'information de la population du Saguenay Lac-Saint-Jean è propos des maladies héréditaires et des services disponibles. Can Rev Sociol Anthropol 2004; 41: 319-344.
21. Hosmer DW, Lemeshow S: Applied Logistic Regression, ed 2. New York, Wiley, 2004.
22. Bostrom K, Ahlstrom G: Living with a hereditary disease: persons with muscular dystrophy and their next of kin. Am J Med Genet A 2005; 136: 17-24. (Pubitemid 40934223)
23. Faulkner CL, Kingston HM: Knowledge, views, and experience of 25 women with myotonic dystrophy. J Med Genet 1998; 35: 1020-1025.
24. Winblad S, Lindberg C, Hansen S: Temperament and character in patients with classical myotonic dystrophy type 1 (DM-1). Neuromuscul Disord 2005; 15: 287-292.
25. Natterlund B, Sjoden PO, Ahlstrom G: The illness experience of adult persons with muscular dystrophy. Disabil Rehabil 2001; 23: 788-798.
26. Perini GI, Menegazzo E, Ermani M, Zara M, Gemma A, Ferruzza E, Gennarelli M, Angelini C: Cognitive impairment and (CTG)n expansion in myotonic dystrophy patients. Biol Psychiatry 1999; 46: 425-431.
27. Winblad S, Lindberg C, Hansen S: Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1). Behav Brain Funct 2006; 2: 16.
28. Andries F, Wevers CW, Wintzen AR, Busch HF, Höweler CJ, de Jager AE, Padberg GW, de Visser M, Wokke JH: Vocational perspectives and neuromuscular disorders. Int J Rehabil Res 1997; 20: 255-273.
29. Phillips MF, Mathieu J: Physical disability in myotonic dystrophy; in Harper PS, van Engelen BG, Eymard B, Wilcox D (eds): Myotonic Dystrophy: Present Management, Future Therapy, ed 1. Oxford, Oxford University Press, 2004, pp 69-82.
30. Gagnon C, Noreau L, Moxley RT, Laberge L, Jean S, Richer L, Perron M, Veillette S, Mathieu J: Towards an integrative approach to the management of myotonic dystrophy type 1. J Neurol Neurosurg Psychiatry 2007; 78: 800-806.