boletin sociedad de psiquiatria y neurologia de la infancia y ...

Boletín Sociedad de Psiquiatría y Neurología de la Infancia y Adolescencia Año 15, Nº 1, Septiembre 2004constituye una iniciativa que debe ser promovidapor sus médicos tratantes.Bibliografía1. Rapin I. Autism. N Engl J Med. 1997;337(2):97-104.2. Diagnostic criteria for Rett syndrome. TheRett Syndrome Diagnostic Criteria WorkGroup. Ann Neurol. 1988;23(4):425-8.3. Leonard H, Bower C, English D. Theprevalence and incidence of Rett syndromein Australia. Eur Child Adolesc Psychiatry.1997;6 Suppl 1:8-10.4. Skjeldal OH, von Tetzchner S, Aspelund F,Herder GA, Lofterld B. Rett syndrome:geographic variation in prevalence inNorway. Brain Dev. 1997;19(4):258-61.5. Vorsanova SG, Ulas V, Iurov Iu B, et al.[Genotype-phenotype correlations in Rettsyndrome: the study of Russian cohort ofpatients]. Zh Nevrol Psikhiatr Im S SKorsakova. 2002;102(10):23-9.6. Leonard H, Silberstein J, Falk R, et al.Occurrence of Rett syndrome in boys. JChild Neurol. 2001;16(5):333-8.7. Villard L, Kpebe A, Cardoso C, Chelly PJ,Tardieu PM, Fontes M. Two affected boysin a Rett syndrome family: clinical andmolecular findings. Neurology. 2000;55(8):1188-93.8. Schanen NC, Kurczynski TW, Brunelle D,Woodcock MM, Dure LSt, Percy AK.Neonatal encephalopathy in two boys infamilies with recurrent Rett syndrome. JChild Neurol. 1998;13(5):229-31.9. Vorsanova SG, Yurov YB, Ulas VY, et al.Cytogenetic and molecular-cytogeneticstudies of Rett syndrome (RTT): a retrospectiveanalysis of a Russian cohort of RTTpatients (the investigation of 57 girls andthree boys). Brain Dev. 2001;23 Suppl1:S196-201.10. Amir RE, Van den Veyver IB, Wan M, TranCQ, Francke U, Zoghbi HY. Rett syndromeis caused by mutations in X-linked MECP2,encoding methyl-CpG-binding protein 2. NatGenet. 1999;23(2):185-8.11. Buyse IM, Fang P, Hoon KT, Amir RE,Zoghbi HY, Roa BB. Diagnostic testing forRett syndrome by DHPLC and directsequencing analysis of the MECP2 gene:identification of several novel mutations andpolymorphisms. Am J Hum Genet. 2000;67(6):1428-36.12. Hoffbuhr K, Devaney JM, LaFleur B, et al.MeCP2 mutations in children with andwithout the phenotype of Rett syndrome.Neurology. 2001;56(11):1486-95.13. Ellaway C, Christodoulou J. Rett syndrome:clinical characteristics and recent geneticadvances. Disabil Rehabil. 2001;23(3-4):98-106.14. Dragich J, Houwink-Manville I, Schanen C.Rett syndrome: a surprising result ofmutation in MECP2. Hum Mol Genet. 2000;9(16):2365-75.15. Lee SS, Wan M, Francke U. Spectrum ofMECP2 mutations in Rett syndrome. BrainDev. 2001;23 Suppl 1:S138-43.16. Coleman M, Brubaker J, Hunter K, SmithG. Rett syndrome: a survey of NorthAmerican patients. J Ment Defic Res. 1988;32 (Pt 2):117-24.17. Motil KJ, Schultz RJ, Browning K, TrautweinL, Glaze DG. Oropharyngeal dysfunctionand gastroesophageal dysmotility arepresent in girls and women with Rettsyndrome. J Pediatr Gastroenterol Nutr.1999;29(1):31-7.18. Budden SS. Understanding, Recognizing,and Treating Rett Syndrome. MedscapeWomens Health. 1997;2(3):3.19. Witt Engerstrom I. Age-related occurrenceof signs and symptoms in the Rettsyndrome. Brain Dev. 1992;14 Suppl:S11-20.20. Glaze DG, Schultz RJ, Frost JD. Rettsyndrome: characterization of seizuresversus non-seizures. ElectroencephalogrClin Neurophysiol. 1998;106(1):79-83.21. Budden SS, Gunness ME. Bone histomorphometryin three females with Rettsyndrome. Brain Dev. 2001;23 Suppl1:S133-7.22. Kerr AM, Armstrong DD, Prescott RJ, DoyleD, Kearney DL. Rett syndrome: analysis ofdeaths in the British survey. Eur ChildAdolesc Psychiatry. 1997;6 Suppl 1:71-4.23. Sekul EA, Moak JP, Schultz RJ, Glaze DG,Dunn JK, Percy AK. Electrocardiographicfindings in Rett syndrome: an explanationfor sudden death? J Pediatr. 1994; 125 (1):80-2.22