Using genetic epidemiology to study Rett syndrome: The design of a case-control study

Paediatric and Perinatal Epidemiology

Volumn 14, Issue 1, 2000, Pages 85-95

  Leonard, Helen ^a,b   Fyfe, Susan ^a,c   Dye, Danielle ^c   Leonard, Seonaid ^a  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b Disability Services Commission   (Australia)

^c CURTIN UNIVERSITY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; AUSTRALIA; CASE CONTROL STUDY; CHILD; CLUSTER ANALYSIS; CONTROLLED STUDY; EPIDEMIOLOGY; FAMILY HEALTH; FEMALE; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; METHODOLOGY; RETT SYNDROME;

AUSTRALIA; CASE-CONTROL STUDIES; CLUSTER ANALYSIS; DATA COLLECTION; DATABASES, FACTUAL; EPIDEMIOLOGIC METHODS; ETHICS, MEDICAL; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; RETT SYNDROME; X CHROMOSOME;

EID: 0033952401     PISSN: 02695022     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-3016.2000.00218.x     Document Type: Article

References (48)

1. Trevathan E, Moser HW. Diagnostic criteria for Rett syndrome. Annals of Neurology 1988; 23:425-428.
2. Zoghbi H. Genetic aspects of Rett syndrome (Review). Journal of Child Neurology 1988; 3(Suppl.): S76-S78.
3. Witt Engerstrom I, Forslund M. Mother and daughter with Rett syndrome. Developmental Medicine and Child Neurology 1992; 34:1022-1023.
4. Anvret M, Clarke A. Genetics and Rett syndrome. European Child and Adolescent Psychiatry 1997; 6(Suppl. 1): 89-90.
5. Schanen NC, Dahle EJR, Capozzoli F, Holm VA, Zoghbi HY, Francke U. A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. American Journal of Human Genetics 1997; 61:634-641.
6. Comings DE. The genetics of Rett syndrome: the consequences of a disorder where every case is a new mutation. American Journal of Medical Genetics Supplement 1986; 1:383-388.
7. Killian W. On the genetics of Rett syndrome: analysis of family and pedigree data. American Journal of Medical Genetics Supplement 1986; 24:369-376.
8. Akesson HO, Hagberg B, Wahlstrom J, Engerstrom IW. Rett syndrome: a search for gene sources. American Journal of Medical Genetics 1992; 42:104-108.
9. Akesson HO, Wahlstrom J, Engerstrom IW, Hagberg B. Rett syndrome: potential gene sources-phenotypical variability. Clinical Genetics 1995; 48:169-172.
10. Akesson HO, Hagberg B, Wahlstrom J. Rett syndrome, classical and atypical-genealogical support for common origin. Journal of Medical Genetics 1996; 33:764-766.
11. Akesson HO. Rett syndrome-the Swedish genealogic research project-new data and present position. European Child and Adolescent Psychiatry 1997; 6(Suppl. 1): 96-98.
12. Akesson HO, Hagberg B, Wahlstrom J. Rett syndrome-presumptive carriers of the gene defect-sex ratio among their siblings. European Child and Adolescent Psychiatry 1997; 6(Suppl. 1): 101-102.
13. Hofferbert S, Schanen NC, Budden SS, Francke U. Is Rett syndrome caused by a triplet repeat expansion? Neuropediatrics 1997; 28:179-183.
14. Pini G, Milan M, Zappella M. Rett syndrome in Northern Tuscany (Italy)-family tree studies. Clinical Genetics 1996; 50:486-490.
15. Hollody K, Borvendeg K, Kosztolanyi G. Pedigree analysis of Hungarian Rett syndrome girls. European Child and Adolescent Psychiatry 1997; 6(Suppl. 1): 99-100.
16. Zappèlla M, Cerioli M. High prevalence of Rett syndrome in a small area. Brain and Development 1987; 9:479-480.
17. Skjeldal OH, Vontetzchner S, Aspelund F, Herder GA, Lofterod B. Rett syndrome-geographic variation in prevalence in Norway. Brain and Development 1997; 19:258-261.
18. Preza B. The epidemiology and geographical distribution of Rett syndrome in Albania. European Child and Adolescent Psychiatry 1997; 6(Suppl. 1): 11-13.
19. Buhler EM, Malik NJ, Alkan M. Another model for the inheritance of Rett syndrome. American Journal of Medical Genetics 1990; 36:126-131.
20. Coleman M, Brubaker J, Hunter K, Smith G. Rett syndrome: a survey of North American patients. Journal of Mental Deficiency Research 1988; 32:117-124.
21. Al-Mateen M, Phillipart M, Shields D. Rett syndrome: a commonly overlooked progressive encephalopathy in girls. American Journal of Diseases in Children 1986; 140:761-765.
22. Ruch A, Kurczynski TW, Velasco ME. Mitochondrial alterations in Rett syndrome. Pediatric Neurology 1989; 5:320-323.
23. Nomura Y, Segawa M, Hasegawa M. Rett syndrome-clinical studies and pathophysiological consideration. Brain and Development 1984; 6:475-486.
24. Gillberg C, Ehlers S, Wahlstrom J. The syndromes described by Kanner and Rett-Hagberg: overlap in an extended family. Developmental Medicine and Child Neurology 1990; 32:258-266.
25. Murphy M, Naidu S, Moser H. Rett Syndrome-observational study of 33 families. American Journal of Medical Genetics 1986; 24(Suppl. 1): 73-76.
26. Kerr A, Stephenson JBP. A study of the natural history of Rett syndrome in 23 girls. American Journal of Medical Genetics 1986; 24(Suppl. 1): 77-83.
27. Susser E, Susser M. Familial aggregation studies. A note on their epidemiologic properties (Review). American Journal of Epidemiology 1989; 129:23-30.
28. Khoury M, Beaty T, Cohen B. Background and Fundamentals. Ire Fundamentals of Genetic Epidemiology. Editors: Khoury M, Beaty T, Cohen B. Oxford: Oxford University Press, 1993.
29. Liang KY, Pulver AE. Analysis of case-control/family sampling design. Genetic Epidemiology 1996; 13:253-270.
30. Hillig U. On the genetics of the Rett syndrome. Brain and Development 1985; 7:368-371.
31. Trevathan E, Adams M. The epidemiology and public health significance of Rett syndrome. Journal of Child Neurology 1988; 3(Suppl.): S17-S19.
32. Kozinetz CA, Skender ML, MacNaughton N, Aimes MJ, Schultz RJ, Percy AK, et al. Epidemiology of Rett syndrome: a population-based registry. Pediatrics 1993; 91:445-450.
33. Leonard H, Bower C, English D. The prevalence and incidence of Rett syndrome in Australia. European Child and Adolescent Psychiatry 1997; 6(Suppl. 1): 8-10.
34. Witt Engerstrom I. Rett syndrome in Sweden. Neurodevelopment-disability-pathophysiology. Acta Paediatrica Scandinavica 1990; 3369:1-60.
35. Leonard H. Rett syndrome in Australia. Thesis for Master of Public Health. Univeristy of Western Australia, Western Australia, 1996.
36. Stata Corp. Stata Statistical Software. College Station, TX: Stata Corporation, 1997.
37. Gazarian M, Williams K, Elliott E, Chant K, Longbottom H, Mellis C, et al. Evaluation of a national surveillance unit. Archives of Disease in Childhood 1999; 80:21-27.
38. Glaze DG. The challenge of Rett syndrome-commentary. Neuropediatrics 1995; 26: 78-80.
39. Kozinetz CA. The Texas Rett syndrome registry. Clinical Research 1989; 37:44A.
40. Hennekens CH, Buring JE. Epidemiology in Medicine, 1st edn. Boston: Little & Brown, 1987.
41. Petterson B, Nelson KB, Watson L, Stanley F. Twins, triplets, and cerebral palsy in births in Western Australia in the 1980s. British Medical Journal 1993; 307: 1239-1243.
42. Cole J, Conneally M, Hodes ME, Merritt ED. Genetic family history questionnaire. Journal of Medical Genetics 1978; 15:10-18.
43. Liang KY, Beaty TH. Measuring familial aggregation by using odds-ratio regression models. Genetic Epidemiology 1991; 8:361-370.
44. Commenges D, Letenneur L. Comparison of the proportions of affected relatives of cases and controls: analysis and minimum sample size formula. Statistics in Medicine 1992; 11:1767-1776.
45. Wellesley D, Hockey K, Montgomery P, Stanley F. Prevalence of intellectual handicap in Western Australia: a community study. Medical Journal of Australia 1992; 156:94-102.
46. Gee V, Dawes V. Validation study of the Western Australian Midwives' Notification System 1992. Perth: Health Department of Western Australia, 1994.
47. Fyfe S, Leonard H, Dye D, Leonard S. Patterns of pregnancy loss, perinatal mortality and post-neonatal childhood deaths in families of girls with Rett syndrome. Journal of Child Neurology 1999; 14:440-445
48. Leonard H, Fyfe S, Dye D, Leonard S. Familial aggregation in Rett syndrome: what is the evidence for clustering of other disorders in the families of affected girls? American Journal of Medical Genetics 1999; 82:228-234.