Rett syndrome: Revised diagnostic criteria and nomenclature

Annals of Neurology

Volumn 68, Issue 6, 2010, Pages 944-950

  Neul, Jeffrey L ^a   Kaufmann, Walter E ^b   Glaze, Daniel G ^a   Christodoulou, John ^c   Clarke, Angus J ^d   Bahi Buisson, Nadia ^e   Leonard, Helen ^f   Bailey, Mark E S ^g   Schanen, N Carolyn ^h   Zappella, Michele ⁱ   Renieri, Alessandra ^j   Huppke, Peter ^k   Percy, Alan K ^l  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

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

^c UNIVERSITY OF SYDNEY   (Australia)

^d CARDIFF UNIVERSITY   (United Kingdom)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^g UNIVERSITY OF GLASGOW   (United Kingdom)

^h NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

ⁱ Rett Center Versilia Hospital   (Italy)

^j UNIVERSITY OF SIENA   (Italy)

^k UNIVERSITY OF GÖTTINGEN   (Germany)

^l University of Alabama at Birmingham   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL FEATURE; CONSENSUS DEVELOPMENT; GENE MUTATION; HUMAN; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; PRACTICE GUIDELINE; PRIORITY JOURNAL; RETT SYNDROME; SYMPTOM;

ANIMALS; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MUTATION; RETT SYNDROME; TERMINOLOGY AS TOPIC;

EID: 78650903501     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.22124     Document Type: Article

References (25)

1. Rett A., [On a unusual brain atrophy syndrome in hyperammonemia in childhood]. Wien Med Wochenschr 1966; 116: 723-726.
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. Hagberg B, Hanefeld F, Percy A, Skjeldal O., 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: 293-297.
4. Hagberg BA, Skjeldal OH., Rett variants: a suggested model for inclusion criteria. Pediatr Neurol 1994; 11: 5-11.
5. 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.
6. 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: 1313-1321.
7. Percy AK, Lane JB, Childers J, et al. Rett syndrome: North American database. J Child Neurol 2007; 22: 1338-1341.
8. Wan M, Lee SS, Zhang X, et al. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet 1999; 65: 1520-1529.
9. Kankirawatana P, Leonard H, Ellaway C, et al. Early progressive encephalopathy in boys and MECP2 mutations. Neurology 2006; 67: 164-166.
10. Carney RM, Wolpert CM, Ravan SA, et al. Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol 2003; 28: 205-211.
11. Watson P, Black G, Ramsden S, et al. Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. J Med Genet 2001; 38: 224-228.
12. Bahi-Buisson N, Nectoux J, Rosas-Vargas H, et al. Key clinical features to identify girls with CDKL5 mutations. Brain 2008; 131: 2647-2661.
13. Ariani F, Hayek G, Rondinella D, et al. FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 2008; 83: 89-93.
14. Hagberg G, Stenbom Y, Witt Engerstrom I., Head growth in Rett syndrome. Acta Paediatr 2000; 89: 198-202.
15. Leonard H, Weaving L, Eastaugh P, et al. Trisomy 21 and Rett syndrome: a double burden. J Paediatr Child Health 2004; 40: 406-409.
16. Einspieler C, Kerr AM, Prechtl HF., Abnormal general movements in girls with Rett disorder: the first four months of life. Brain Dev 2005; 27 (Suppl 1): S8-S13.
17. Christen HJ, Hanefeld F., Male Rett variant. Neuropediatrics 1995; 26: 81-82.
18. Goutieres F, Aicardi J., Atypical forms of Rett syndrome. Am J Med Genet Suppl 1986; 1: 183-194.
19. Artuso R, Mencarelli MA, Polli R, et al. Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria. Brain Dev 2010; 32: 17-24.
20. Huppke P, Laccone F, Kramer N, et al. Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet 2000; 9: 1369-1375.
21. Archer HL, Evans J, Edwards S, et al. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 2006; 43: 729-734.
22. Zappella M., The Rett girls with preserved speech. Brain Dev 1992; 14: 98-101.
23. Rolando S., Rett syndrome: report of eight cases. Brain Dev 1985; 7: 290-296.
24. Hanefeld F., The clinical pattern of the Rett syndrome. Brain Dev 1985; 7: 320-325.
25. Renieri A, Mari F, Mencarelli MA, et al. Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). Brain Dev 2009; 31: 208-216.