RELATED ASPECTS OF CLINICAL GENETICS AND RETT SYNDROME EVOLUTION
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Resumo
Rett syndrome has yielded many articles over the years since its discovery. This is a production that aims to recover some concepts already brought by other authors, to fix the genetic aspect of the affection, as well as the clinical evolution and associated diseases. Methodology: The screen study is the result of consultations in national and international databases, most notably PubMed and Scielo as a source of academic articles. In the consultations we used the following keywords: Rett Syndrome, Mental Deficit, Multiple Deficit, Epileptic Crisis, and Genetics, we still serve three journals: Genomics & Genetics Weekly, Genetic, Social and General Psychology Monographs and Journal of Medical Genetics of the English equivalent as descriptors: Rett Syndrome, Mental Limitation, General Limitation, Epilepsy and Genetics. In our consultation we found 185 articles and of these, we use 32 to compose our bibliographic reference.
Keywords: Rett syndrome. Mental deficiency. Multiple Deficit. Epileptic
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Referências
Lima, F.T., Brunoni, D., Schwartzman. J.S., Pozzi, M.C., et al. Genotype-phenotype correlation in Brazillian Rett Syndrome Patients - Arq Neuropsiquiatr 2009;67(3-A):577-584;
Percy,A.K., Zoghbi,H. El síndrome de Rett - NIH Pub. No. 06-5590(S) Junio 2006;
Villard, Laurent, et al. "Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease." Journal of Medical Genetics 38.7 (2001): 435.
Lima, F.T., Brunoni, D., Schwartzman. J.S., Concepts of Color, Shape, Size and Position in Ten Children with Rett Syndrome - Arq Neuropsiquiatr 2009;67(1):50-54;
Skotko, Brian G., Dave A. Koppenhaver, and Karen A. Erickson. "Parent reading behaviors and communication outcomes in girls with Rett syndrome." Exceptional Children 70.2 (2004): 145+. Academic OneFile. Web. 11 Apr. 2010.: 435.
Retzlaff, Rudiger. "Families of children with Rett syndrome: stories of coherence and resilience." Families, Systems & Health 25.3 (2007): 246+.
Bergstrom-Isacsson, Marith, Peter O.O. Julu, and Ingegerd Witt-Engerstrom. "Autonomic responses to music and vibroacoustic therapy in Rett syndrome: a controlled within-subject study." Nordic Journal of Music Therapy 16.1 (2007): 42+.
Fortunato, John E., et al. "Esophageal motility dysfunction in children with Rett syndrome, gastroesophageal reflux, and dysphagia." Journal of Applied Research 8.2 (2008): 84+.
Isaacs, Janet Sugarman, et al. "Eating difficulties in girls with Rett syndrome compared with other developmental disabilities. (Perspectives in Practice)." Journal of the American Dietetic Association 103.2 (2003): 224+.
Horike, Shin-ichi, et al. "Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome." Nature Genetics 37.1 (2005): 31+.
D. J. Young : A. Bebbington : A. Anderson : N. de Klerk :H. Leonard. The diagnosis of autism in a female: could - Eur J Pediatr (2008) 167:661–669.
Babb, Chris. "Living with shattered dreams: a parent's perspective of living with learning disability: Chris Babb describes how having a child with Rett syndrome has shaped her life. She calls on professionals to look beyond the label and understand how the lives of all family members are profoundly affected when a close relative has a learning disability." Learning Disability Practice 10.5 (2007): 14+.
Jentarra, Garilyn M., et al. "Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linkedmental retardation." BMC Neuroscience 11 (2010): 19.
Fendri-Kriaa, Nourhene, et al. "A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome." Genetic Testing and Molecular Biomarkers 13.1 (2009): 109+.
Khajuria, Rajni, et al. "Rapid detection of deletions in hotspot C-terminal segment region of MECP2 by routine PCR method: report of two classical rett syndrome patients of Indian origin." Genetic Testing and Molecular Biomarkers 13.2 (2009): 277+.
Guy, Jacky, et al. "A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome.(Clinical report)." Nature Genetics 27.3 (2001): 322+.
Kudo, S., et al. "Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain. (Original Article)." Journal of Medical Genetics 40.7 (2003): 487+.
Schartzman. J.S., Souza, A.M.C., et al. Rett syndrome phenotype in XXY karyotype case report. Arq Neuropsiquiatr 1998;56(4):824-828.
Chen, Richard Z., et al. "Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice.(central nervous system)." Nature Genetics 27.3 (2001): 327+.
Webb, Tessa, and Farida Latif. "Rett syndrome and the MECP2 gene." Journal of Medical Genetics 38.4 (2001): 217.
Colvin, L., et al. "Refining the phenotype of common mutations in Rett syndrome." Journal of Medical Genetics 41.1 (2004): 25+.
Zoghbi, Huda Y. "Rett syndrome: what do we know for sure?" Nature Neuroscience 12.3 (2009): 239+.
Gill, H., et al. "Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. (Letter to JMG)." Journal of Medical Genetics 40.5 (2003): 380+.
F. Guideri,1 M. Acampa,1 G. Calamandrei,2 L. Aloe,2 M. Zappella,3 Y. Hayek3 . “Nerve Growth Factor Plasma Levels and Ventricular Repolarization in Rett Syndrome” Pediatr Cardiol 25:394–396, 2004.
Kudo, S., et al. "Functional characterisation of MeCP2 mutations found in male patients with X linked mental retardation. (Letters)." Journal of Medical Genetics 39.2 (2002): 132+.
Mnatzakanian, Gevork N., et al. "A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.(Disease/Disorder overview)." Nature Genetics 36.4 (2004): 339+.
Carter, Alexandre R., and Rosalind A. Segal. "Rett syndrome model suggests MECP2 gives neurons the quiet they need to think." Nature Neuroscience 4.4 (2001): 342+.
"News updates.(growing a biofilm; preventing development defects using chemical genetics; reversing Rett syndrome)(Clinical report)." Lab Animal 36.4(2007): 9.
Stachon, A., Assumpção Jr, F.B., Raskin, S.. “Clinical and molecular characterization of two Brazilian patients. Arq Neuropsiquiatr 2007;65(1):36-40.
Pescucci, Chiara, Ilaria Meloni, and Alessandra Renieri. "Is Rett syndrome a loss-of-imprinting disorder?" Nature Genetics 37.1 (2005): 10+.
Laccone, F., et al. "MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution. (Letter to JMG)." Journal of Medical Genetics 39.8 (2002): 586+.
Alfred, Jane. "Unravelling Rett." Nature Reviews Genetics 2.4 (2001): 238.