Early development and regression in rett syndrome

Clinical Genetics

Volumn 84, Issue 6, 2013, Pages 572-576

  Lee, J Y L ^a   Leonard, H ^b   Piek, J P ^a   Downs, J ^a,b  

^a CURTIN UNIVERSITY   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

Autistic symptoms; Development; MECP2; Regression; Rett syndrome

Indexed keywords

ARTICLE; AUSTRALIA; CHILD; CLINICAL ARTICLE; COMMUNICATION SKILL; CRYING; FEMALE; GENE MUTATION; HUMAN; MOTOR PERFORMANCE; PRIORITY JOURNAL; PSYCHOSOCIAL WITHDRAWAL; RETT SYNDROME; STRABISMUS; SYMPTOMATOLOGY; VOMITING;

AUTISTIC SYMPTOMS; DEVELOPMENT; MECP2; REGRESSION; RETT SYNDROME;

AGE OF ONSET; AUSTRALIA; CHILD, PRESCHOOL; DATABASES, FACTUAL; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; INFANT; MUTATION; PHENOTYPE; REGRESSION (PSYCHOLOGY); RETT SYNDROME;

EID: 84886791542     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12110     Document Type: Article

References (16)

1. Fehr S, Bebbington A, Nassar N et al. Trends in the diagnosis of Rett syndrome in Australia. Pediatr Res 2011: 70: 313-319.
2. Neul JL, Kaufmann WE, Glaze DG et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol 2010: 68: 944-950.
3. Leonard H, Bower C. Is the girl with Rett syndrome normal at birth? Dev Med Child Neurol 1998: 40: 115-121.
4. Einspieler C, Kerr AM, Prechtl HF. Is the early development of girls with Rett disorder really normal? Pediatr Res 2005: 57: 696-700.
5. Fehr S, Bebbington A, Ellaway C, Rowe P, Leonard H, Downs J. Altered attainment of developmental milestones influences the age of diagnosis of Rett syndrome. J Child Neurol 2011: 26: 980-987.
6. Hagberg B. Clinical criteria, stages and natural history. In: Hagberg B, ed. Rett Syndrome - Clinical and Biological Aspects. London: Mac Kieth Press, 1993: 4-20.
7. Charman T, Cass H, Owen L et al. Regression in individuals with Rett syndrome. Brain Dev 2002: 24: 281-283.
8. Witt-Engerstrom I. Rett syndrome: a retrospective pilot study on potential early predictive symptomatology. Brain Dev 1987: 9: 481-486.
9. Leonard H. Rett's syndrome: opportunity for Australian study. Med J Aust 1993: 159: 832.
10. Fyfe S, Cream A, de Klerk N, Christodoulou J, Leonard H. InterRett and RettBASE: International Rett Syndrome Association databases for Rett syndrome. J Child Neurol 2003: 18: 709-713.
11. 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: 282-288.
12. Bebbington A, Percy A, Christodoulou J et al. Updating the profile of C-terminal MECP2 deletions in Rett syndrome. J Med Genet 2010: 47: 242-248.
13. Hagberg BA, Skjeldal OH. Rett variants: a suggested model for inclusion criteria. Pediatr Neurol 1994: 11: 5-11.
14. Young D, Bebbington A, Anderson A et al. The diagnosis of autism in a female: could it be Rett syndrome? Eur J Pediatr 2008: 167: 661-669.
15. Leonard H, Moore H, Carey M et al. Genotype and early development in Rett syndrome: the value of international data. Brain Dev 2005: 27 (Suppl. 1): S59-S68.
16. Campos JJ, Anderson DI, Barbu-Roth MA, Hubbard EM, Hertenstein MJ, Witherington D. Travel broadens the mind. Infancy 2000: 1: 149-219.