Artículos de revistas
Rett Syndrome: Retrospective And Prospective Study Of 28 Patients [síndrome De Rett: Estudo Retrospectivo E Prospectivo De 28 Pacientes]
Registro en:
Arquivos De Neuro-psiquiatria. , v. 59, n. 2 B, p. 407 - 410, 2001.
0004282X
2-s2.0-0035375652
Autor
Bruck I.
Antoniuk S.A.
Halick S.M.S.
Spessatto A.
Bruyn L.R.
Rodrigues M.
Koneski J.
Facchim D.
Institución
Resumen
From November 1982 to May 1999, 28 children with Rett syndrome were followed-up for a medium period of 6 years and 2 months. Regression of developmental milestones started at the age between 5 and 20 months. Nineteen cases of typical Rett syndrome had uneventful pre and perinatal periods, loss of previously acquired purposeful hand skills, mental and motor regression and developed hand stereotypies; sixteen had head growth deceleration and 12 gait apraxia. Nine patients were atypical cases, 2 formes frustres, 2 congenital, 3 with early seizure onset, 1 preserved speech and 1 male. Epilepsy was present in 21 patients, predominantly partial seizures and the drug of choise was carbamazepine (15 patients). In the initial evaluation most patients were distributed on Stages II and III and on follow-up on Stages III and IV. Three children died. 59 2 B 407 410 Wielawski, I., Rett syndrome: A medical odyssey (1986) Providence J Bull, , Dec 7 Hagberg, B., Aicardi, J., Dias, K., A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases (1983) Ann Neurol, 14, pp. 471-479 Diagnostic criteria for Rett syndrome (1988) Ann Neurol, 23, pp. 425-428 Rosemberg, S., Arita, F., Campos, C., Síndrome de Rett:Análise dos primeiros 5 casos diagnosticados no Brasil (1987) Arq Neuropsiquiatr, 45, p. 143 Bruck, I., Antoniuk, S.A., De Paola, D., Araki, T.Y., Flenik, L.T., Síndrome de Rett:Relato de 7 casos (1990) Arq Neuropsiquiatr, 48, pp. 489-492 Holm, V., Rett's syndrome:A progressive developmental disability in girls (1985) Dev Behav Pediatr, 6, pp. 32-36 Al-Mateen, M., Philipart, M., Shields, D., Rett syndrome: A commonly overlooked progressive encephalopathy in girls (1986) Am J Dis Child, 140, pp. 761-765 Hagberg, B., Rett syndrome:Clinical peculiarities and biological mysteries (1995) Acta Paediatr, 84, pp. 971-976 Kerr, A., Stephenson, J.B.P., Rett's syndrome in the west of Scotland (1985) BMJ, 291, pp. 579-582 Hagberg, B., Rett syndrome: Swedish approach to analysis of prevalence and cause (1985) Brain Dev, 7, pp. 277-280 Hagberg, B., Rett's syndrome: Prevalence and impact on progressive severe mental retardation in girls (1985) Acta Paediatr Scand, 74, pp. 405-408 Iyama, C.M., (1993) In Advances in Pediatrics Rett Syndrome, pp. 217-245. , St Louis,MO: Mosby Year Book Clarke, A., Rett syndrome (1996) J Med Genet, 33, pp. 693-699 Jan, M.M.S., Dooley, J.M., Gordon, K.E., Male Rett syndrome variant: Aplication of diagnostic criteria (1999) Pediatr Neurol, 20, pp. 238-240 Hagberg, B.A., Skjeldal, O.H., Rett variants: A suggested model for inclusion criteria (1994) Pediatr Neurol, 11, pp. 5-11 Swaiman, K.F., Dyken, R.D., Rett syndrome (1999) Pediatric Neurology, Principles & Pratice. 3ed., 2, pp. 836-839. , Swaiman KF, Ashwal S, (eds) St Louis: Mosby Inc Budden, S., Rett syndrome: Habilitation and managment reviewed (1997) Eur Child Adolesc Psychiatry, (1 SUPPL.), pp. 103-107 Hagne, I., Witt-Engerstrom, I., Hagberg, B., EEg development in Rett syndrome: A study of 30 cases (1989) Eletroencephalogr Clin Neurophysiol, 72, pp. 1-6 Naidu, S., Murphy, M., Moser, H., Rett syndrome: Natural history in 70 cases (1986) Am J Med Genet, 24, pp. 61-72 Huang, T.J., Lubicky, J.P., Hammerberg, K.W., Scoliosis in Rett syndrome (1994) Orthop Rev, 23, pp. 931-937 Zoghbi, H.Y., Percy, A.K., Schultz, R.J., Fill, C., Patterns of X chromosome inactivation in the Rett syndrome (1990) Brain Dev, 12, pp. 131-135 Sirianni, N., Naidu, S., Pereira, J.L., Pillotto, R.F., Hoffman, E.P., Rett syndrome, confirmation of x-linked dominant inheritance, and localization of the gene to Xq28 (1998) Am J Hum Genet, 63, pp. 1552-1558 Wan, M., Lee, S.S.J., Zhang, X., Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots (1999) Am J Hum Genet, 65, pp. 1520-1529 Bruck, I., Philippart, M., Giraldi, D., Antoniuk, S., Difference in early development of presumed monozygotic twins with Rett syndrome (1991) Am J Med Genet, 39, pp. 415-417 Tang, J., Qi, Y., Bao, X.H., Wu, X.R., Mutational analysis of mitochondrial DNA of children with Rett syndrome (1997) Pediatr Neurol, 17, pp. 327-330 Reiss, A.L., Faruque, F., Naidu, S., Neuroanatomy of Rett syndrome: A volumetric imaging study (1993) Ann Neurol, 34, pp. 227-234 Kitt, C.A., Wilcox, B.J., Preliminary evidence for neurodegenerative changes in the substantia nigra of Rett syndrome (1995) Neuropediatrics, 26, pp. 114-118 Armstrong, D., Dunn, J.K., Antalffy, B., Trivedi, R., Seletive dendritic alterations in the cortex of Rett syndrome (1995) J Neuropathol Exp Neurol, 54, pp. 195-201