Health service use in Rett syndrome

Journal of Child Neurology

Volumn 20, Issue 1, 2005, Pages 42-50

  Moore, Hannah ^a   Leonard, Helen ^a   de Klerk, Nick ^a   Robertson, Ian ^b   Fyfe, Sue ^c   Christodoulou, John ^d,e   Weaving, Linda ^d,e   Davis, Mark ^f   Mulroy, Seonaid ^a   Colvin, Lyn ^a  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b MURDOCH UNIVERSITY   (Australia)

^c CURTIN UNIVERSITY   (Australia)

^d CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^e UNIVERSITY OF SYDNEY   (Australia)

^f ROYAL PERTH HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ACADEMIC ACHIEVEMENT; ACCURACY; ADOLESCENT; ADULT; ARTICLE; CHILD; DATA ANALYSIS; DATA BASE; DEMOGRAPHY; EPIDEMIOLOGICAL DATA; FEMALE; FRAMESHIFT MUTATION; GENETIC SCREENING; HEALTH CARE UTILIZATION; HUMAN; INFORMATION PROCESSING; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOTHER; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PATIENT CODING; PHENOTYPE; POPULATION RESEARCH; PRIORITY JOURNAL; QUESTIONNAIRE; REGISTER; RETT SYNDROME; SOCIAL ASPECT; X CHROMOSOME INACTIVATION;

EID: 20144381766     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738050200010701     Document Type: Article

References (30)

1. Leonard H, Bower C, English D: The prevalence and incidence of Rett syndrome in Australia. Eur Child Adolesc Psychiatry 1997;6(Suppl 1):8-10.
2. Hagberg B, Aicardi J, Dias K, Ramos O: A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases. Ann Neurol 1983;14:471-479.
3. Leonard H, Fyfe S, Leonard S, Msall M: Functional status, medical impairments, and rehabilitation resources in 84 females with Rett syndrome: A snapshot across the world from the parental perspective. Disabil Rehabil 2001;23:107-117.
4. Hagberg B, Witt Engerström I: Rett syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence. Am J Med Genet Suppl 1986;1:47-59.
5. Iyama CM: Rett syndrome, review. Adv Pediatr 1993;40:217-245.
6. Dunn HG, MacLeod PM: Rett syndrome: Review of biological abnormalities. Can J Neurol Sci 2001;28:16-29.
7. Colvin L, Fyfe S, Leonard S, et al: Describing the phenotype in Rett syndrome using a population database. Arch Dis Child 2003;88:38-43.
8. Percy AK: Rett syndrome: Clinical correlates of the newly discovered gene. Brain Dev 2001;23(Suppl 1):S202-S205.
9. Trevathan E, Moser H: Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group. Ann Neurol 1988;23:425-428.
10. Amir RE, van den Veyver IB, Wan M, et al: Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999;23:185-188.
11. Christodoulou J, Grimm A: RettBASE: IRSA MECP2 Variation Database. Children's Hospital at Westmead. Available at: http://mecp2.chw.edu.au/. Accessed May 5, 2003.
12. van den Veyver IB: Skewed X-inactivation in X-linked disorders. Semin Reprod Med 2001;19:183-191.
13. Cheadle JP, Gill H, Fleming N, et al: Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location. Hum Mol Genet 2000;9:1119-1129.
14. Hoffbuhr K, Devaney JM, LaFleur B, et al: MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology 2001;56:1486-1495.
15. Huppke P, Held M, Handefeld F, et al: Influence of mutation type and location on phenotype in 123 patients with Rett syndrome. Neuropediatrics 2002;33:63-68.
16. Leonard H, Colvin L, Christodoulou J, et al: Patients with the R133C mutation: Is their phenotype different from Rett syndrome patients with other mutations? J Med Genet 2003;40(5):e53.
17. Colvin L, Leonard H, De Klerk N, et al: Refining the phenotype of common mutations in Rett syndrome. J Med Genet 2003;41(1):25-30.
18. Majnemer A, Shevell MI, Rosenbaum P, Abrahamowicz M: Early rehabilitation service utilization patterns in young children with developmental delays. Child Care Health Dev 2002;28:29-37.
19. Andersen RM: Revisiting the behavioral model and access to medical care - Does it matter? J Health Soc Behav 1995;36:1-10.
20. Keeffe JE, Weih LM, McCarty CA, Taylor HR: Utilization of eye care services by urban and rural Australians. Br J Ophthalmol 2002;86:24-27.
21. Weaving L, Williamson S, Bennetts B, et al: Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. Am J Med Genet 2003;118A:103-114.
22. Zubrick S, Williams A, Silburn S, Vimpani GV: Indicators of Social and Family Functioning. Department of Family and Community Services, May 2000, Perth, Australia.
23. Measuring Remoteness: Accessibility/Remoteness Index of Australia (ARIA). Occasional Papers: New Series Number 14. Department of Health and Ageing, 2001, Perth, Australia.
24. Andrews G, Henderson S, Hall W: Prevalence, comorbidity, disability and service utilization. Overview of the Australian National Mental Health Survey. Br J Psychiatry 2001;178:145-153.
25. Grumbach K, Selby JV, Damberg C, et al: Resolving the gatekeeper conundrum: What patients value in primary care and referrals to specialists. JAMA 1999;282:261-266.
26. van Doorslaer E, Wagstaff A, van der Burg H, et al: Equity in the delivery of health care in Europe and the US. J Health Econ 2000;19:553-583.
27. Halldorsson M, Kunst AE, Kohler L, Mackenbach JP: Socioeconomic differences in children's use of physician services in the Nordic countries. J Epidemiol Community Health 2002;56: 200-204.
28. Monros E, Armstrong J, Aibar E, et al: Rett syndrome in Spain: Mutation analysis and clinical correlations. Brain Dev 2001;23(Suppl 1):S251-S253.
29. Hoffbuhr KC, Moses LM, Jerdonek MA, et al: Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype. Ment Retard Dev Disabil Res Rev 2002;8:99-105.
30. Amir RE, van den Veyver IB, Schultz R, et al: Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol 2000;47:670-679.