Longitudinal hand function in Rett syndrome

Journal of Child Neurology

Volumn 26, Issue 3, 2011, Pages 334-340

  Downs, Jennepher ^a,b   Bebbington, Ami ^a   Kaufmann, Walter E ^c   Leonard, Helen ^a  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b CURTIN UNIVERSITY   (Australia)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

hand function; longitudinal; MECP2; phenotype; Rett syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ASSESSMENT; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE MUTATION; GRIP STRENGTH; HAND FUNCTION; HUMAN; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETT SYNDROME; SCHOOL CHILD; WHEELCHAIR;

ADOLESCENT; ADULT; AGE FACTORS; AUSTRALIA; CHILD; CHILD, PRESCHOOL; DATABASES, FACTUAL; FEMALE; HAND; HUMANS; LONGITUDINAL STUDIES; METHYL-CPG-BINDING PROTEIN 2; MUTATION; RETT SYNDROME; VIDEO RECORDING; YOUNG ADULT;

EID: 79952646814     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073810381920     Document Type: Article

References (31)

1. Hagberg B. Clinical manifestations and stages of Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002;8(2):61-65. (Pubitemid 34606514)
2. 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(2):185-188. (Pubitemid 29455390)
3. Bebbington A, Anderson A, Ravine D, et al. Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology. 2008;70(11):868-875. (Pubitemid 351367508)
4. Neul JL, Fang P, Barrish J, et al. Specific mutations in methyl- CpG-binding protein 2 confer different severity in Rett syndrome. Neurology. 2008;70(16 pt 1):1313-1321. (Pubitemid 351550354)
5. Downs J, Bebbington A, Jacoby P, et al. Level of purposeful hand function as a marker of clinical severity in Rett syndrome. Dev Med Child Neurol. In press.
6. Rice MA, Haas RH. The nutritional aspects of Rett syndrome. J Child Neurol. 1988;3(suppl):S35-S42.
7. LaurvickCL, de Klerk N,Bower C, et al. Rett syndrome inAustralia: a review of the epidemiology. J Pediatr. 2006;148(3):347-352.
8. Hagberg B, Hanefeld F, Percy AK, et al. An update on clinically applicable diagnostic criteria in Rett syndrome: comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. Eur J Paediatr Neurol. 2002;6(5):293-297. (Pubitemid 36267302)
9. Fyfe S, Downs J, McIlroy O, et al. Development of a video-based evaluation tool in Rett syndrome. J Autism Devel Disord. 2007; 37(9):1636-1646. (Pubitemid 47476590)
10. Burd L, Cook J, Randall T. The hand apraxia scale. Percept Mot Skills. 1990;70(1):219-224. (Pubitemid 20165716)
11. Kerr AM, Nomura Y, Armstrong D, et al. Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev. 2001;23(4):208-211. (Pubitemid 32457802)
12. Stata. In: Stata Statistical Software. 9th ed. College Station, Tex: StataCorp LP; 2005.
13. Hagberg BA, Skjeldal OH. Rett variants: a suggested model for inclusion criteria. Pediatr Neurol. 1994;11:5-11. (Pubitemid 24267725)
14. Carter P, Downs J, Bebbington A, et al. Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database. Mov Disord. 2010;25(3):282-288.
15. Temudo T, Oliveira P, Santos M, et al. Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations. Neurology. 2007;68(15):1183-1187. (Pubitemid 46608465)
16. Piazza CC, Anderson C, Fisher W. Teaching self-feeding skills to patients with Rett syndrome. Devel Med Child Neurol. 1993; 35(11):991-996. (Pubitemid 23315276)
17. Kondo M, Gray LJ, Pelka GJ, et al. Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome: Mecp2 gene dosage effects and BDNF expression. Eur J Neurosci. 2008;27:3342-3350. (Pubitemid 351847324)
18. Leonard H,Colvin L,Christodoulou J, et al. Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations? J Med Genet. 2003;40(5):e52.
19. Archer H, Evans J, Leonard H, et al. Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. J Med Genet. 2007; 44(2):148-152.
20. Ben Zeev B, Bebbington A, Ho G, et al. The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome. Neurology. 2009;72(14):1242-1247.
21. Shumway-Cook A,WoollacottMH. In: Motor Control: Translating Research Into Clinical Practice. 3rd ed. Philadelphia, Pa: Lippincott Williams & Wilkins; 2007.
22. Duff S, Shumway-Cook A, WoollacottMH. Clinical management of the patient with reach, grasp and manipulation disorders. In: Shumway-Cook A, Woollacott MH, eds. Motor Control: Translating Research Into Clinical Practice. 3rd ed. Philadelphia, Pa: LippincottWilliams &Wilkins; 2007:518-556.
23. Larsson G, Lindstrom B, Engerstrom IW. Rett syndrome from a family perspective: the Swedish Rett Center Survey. Brain Dev. 2005;27(suppl 1):S14-S19. (Pubitemid 41501605)
24. Kubas ES. Use of splints to develop hand skills in a woman with Rett syndrome. Am J Occup Ther. 1992;46(4):364-8.
25. Naganuma GM, Billingsley FF. Effect of hand splints on stereotypic hand behavior of three girls with Rett syndrome. Phys Ther. 1988;68(5):664-671.
26. Sharpe PA, Ottenbacher KJ. Use of an elbow restraint to improve finger-feeding skills in a child with Rett syndrome. Am J Occup Ther. 1990;44(4):328-332.
27. Kaufmann WE, Johnston MV, Blue ME. MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution. Brain Dev. 2005; 27:S77-S87. (Pubitemid 41501614)
28. Carter JC, Lanham DC, Pham D, et al. Selective cerebral volume reduction in Rett syndrome: a multiple approach MRI study. AJNR Am J Neuroradiol. 2008;29:436-441. (Pubitemid 351424053)
29. Philipart M. Rett and Angelman's syndromes: models of arrested development. Pediatr Neurol. 2001;25(4):288-294.
30. Fogassi L, Luppino G. Motor functions of the parietal lobe. Curr Opin Neurobiol. 2005;15:626-631. (Pubitemid 41682302)
31. Eliasson A, Krumlinde-Sundholm L, Rosblad B, et al. The Manual Ability Classification System (MACS) for children with cerebral palsy: scale development and evidence of validity and reliability. Dev Med Child Neurol. 2006;48(7): 549-554.