Quality Of Life And Autism [qualidade De Vida E Autismo]

Objective: To evaluate the index quality of life (QL) in bearers of including upset of the development. Method: 20 autistic childrens, between 4 and 12 years, submitted to the diagnostic evaluation by autistic traces scale-ATA and for the Vineland adaptive behavior scales, needing to obtain in this a quotient of superior development over 70. The data about QL were obtained by the scale of quality of life-AUQEI and compared from the application of Vineland and of AUQEI in a population of normal children, resembling in the sex and in the age. Results: In the evaluation of the ATA, average was 33.75 with 4.95 standard deviation. The indexes of Vineland suggest that normal children have larger probability to present level of appropriated adaptative behavior than autistic children (p=0.0196). Concerning QL, the general indexes are the same for both groups, indicating positive QL (p=0.744). In the sub domain autonomy, autistic children present higher index (p=0.0048). Conclusion: Autistic childrens present similar indexes of QL than normal childrens.6402:00:00295299(1994) Diagnostic and Statistical Manual of Mental Disorders. 4th Ed., , Washington DC: APAKlin, A., Attributing social meaning to ambiguous visual stimuli in hig her-functioning autism and Asperger syndrome: The social attribution task (2000) J Autism Develop Disord, 41, pp. 831-846Measuring quality of life: The development of the World Health Organization Quality of Life Instrument (WHOQOL) (1993) Measuring Health: A Review of Quality of Life Measurement Scales, , World Health Organization, Bowling A (ed). Buckingham: Open University PressMagnificat, S., Dazord, A., Évaluation de la qualité de vie de l'enfant: Validation d'un questionnaire, premiers résultats (1997) Neuropsychiatr Enfance Adolesc, 45, pp. 106-114Assumpção Jr., F.B., Kuczynski, E., Sprovieri, M.H., Aranha, E.M., Escala de avaliação de qualidade de vida (2000) Arq Neuropsiquiatr, 58, pp. 119-127Ballabriga, M.C.J., Escude, R.M.C., Llaberia, E.D., Escala de avaluación dels t rests autistes (ATA): Validez de una escala para el examen de las conductas autistas (1984) Rev Psiquiatr Infant Juv, 4, pp. 254-264Assumpção Jr., F.B., Kuczynski, E., Gabriel, M.E., Rocca, C.C., Escala de avaliação de traços autísticos (ATA): Validade e confiabilidade de uma escala para a detecção de condutas autísticas (1999) Arq Neuropsiquiatr, 57, pp. 23-29Sparrow, S.S., Balla, D.A., Ciccett, D.V., (1984) Vineland Adaptive Behavior Scales, , Circle Pines: American Guidance ServiceMagnificat, S., Quality of life of children and adolescents after kidney or lives transplantation: Child, parents and caregivers point of view (2003) Pediatr Transplant, 7, pp. 228-235Szatmari, P., Archer, L., Fisman, S., Streiner, D.L., Wilson, F., Asperger's synd rome and autism: Differences in behavior, cognition, and adaptive functioning (1995) Am Acad Child Adolesc Psychiatry, 34, pp. 1662-1671Liss, M., Harel, B., Fein, E., Predictors and correlates of adaptive functioning in children with developmental disorders (2001) J Autism Develop Disord, 31, pp. 219-230Carter, A.C., Volkmar, F.R., Pardal, S.S., The adaptable scales of the behavior of Vineland: Supplemental norms for individuals with autism (1998) J Autism Develop Disord, 28, pp. 55-59Volkmar, F.R., Cohen, D.J., Co-morbid association of autism and schizophrenia (1991) Am J Psychiatry, 48, pp. 1705-1707(2003) International Classification of Functioning Disability and Health (ICF), , Geneva: WHOShear, J., Aspects of the quality of life of children with a disability who a re in inclusive educational settings (2001) Internat J Practical Appr Disab, 25, pp. 40-41Landolt, M.A., Nuoffer, M.J., Steinmann, B., Superti-Furga, M., Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal (2002) J Pediatrics, 140, pp. 516-521Barreire, S.G., Oliveira, O.A., Kazama, W., Kimura, M., Santos, A., Qualidade de vida de crianças ostomizadas na ótica das crianças e das mães (2003) J Pediatria, 79, pp. 55-62Sprovieri, M.H.S., Assumpção Jr., F.B., Dinâmica familiar de crianças autistas (2001) Arq Neuropsiquiatri, 59, pp. 230-237Baron-Cohen, S., Leslie, A.E., Frith, D., Does the autistic child have a "theory of mind? (1985) Cognition, 21, pp. 37-46Anders, J.C., (2004) O Transplante de Medula Óssea e Suas Repercussões Na Qualidade de Vida de Crianças e Adolescentes Que O Vivenciaram, , Tese. Ribeirão Pret

Novel Dmrt1 3'utr+11inst Mutation Associated To Xy Partial Gonadal Dysgenesis [nova Mutação 3'utr+11inst No Gene Dmrt1 Associada à Disgenesia Gonadal Parcial Xy]

The Y-chromosome-located SRY gene encodes a small testis-specific protein containing a DNA- -binding motif known as the HMG (high mobility group) box. However, mutations in SRY are not frequent especially in cases of 46,XY partial gonadal dysgenesis. Several sex-determining genes direct the fate of the bipotential gonad to either testis or ovary. In addition, heterozygous small deletions in 9p can cause complete and partial XY gonadal dysgenesis without other symptoms. Human DMRT1 gene, which is located at 9p24.3, is expressed in testis and ovary and has been considered, among others, a candidate autosomal gene responsible for gonadal dysgenesis. In this report we describe a nucleotide insertion in DMRT1 3'UTR in a patient of XY partial gonadal dygenesis. The 3'UTR+11insT is located within a conserved motif important for mRNA stabilization. © ABE&M todos os direitos reservados.548749753Hughes, I.A., Disorders of sex development: A new definition and classification (2008) Best Pract Res Clin Endocrinol Metab, 22, pp. 119-134Andrade, J.G., Guerra-Júnior, G., Maciel-Guerra, A.T., 46,XY and 45,X/46,XY testicular dysgenesis: Similar gonadal and genital phenotype, different prognosis (2010) Arq Bras Endocrinol Metabol, 54, pp. 331-334Michala, L., Goswami, D., Creighton, S.M., Conway, G.S., Swyer syndrome: Presentation and outcomes (2008) BJOG, 115, pp. 737-741Ribeiro-Scolfaro, M., Cardinalli, I.A., Stuchi-Perez, E.G., de Mello, M.P., Assumpção, J.G., Baptista, M.T.M., Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism (2001) Arch Pathol Lab Med, 125, pp. 652-656Berta, P., Hawkins, J.R., Sinclair, A.H., Taylor, A., Griffiths, B.L., Goodfellow, P.N., Genetic evidence equating SRY and the testis- -determining factor (1990) Nature, 348, pp. 448-450Knower, K.C., Kelly, S., Harley, V.R., Turning on the male-SRY, SOX9 and sex determination in mammals (2003) Cytogenet Genome Res, 101, pp. 185-198Tagliarini, E.B., Assumpção, J.G., Scolfaro, M.R., Mello, M.P., Maciel-Guerra, A.T., Guerra, G., Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis (2005) Braz J Med Biol Res, 38, pp. 17-25Biason-Lauber, A., Control of sex development (2010) Best Pract Res Clin Endocrinol Metab, 24 (2), pp. 163-186Veitia, R.A., Nunes, M., Quintana-Murci, L., Rappaport, R., Thibaud, E., Jaubert, F., Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy- 9p syndrome (1998) Am J Hum Genet, 63, pp. 901-905Calvari, V., Bertini, V., de Grandi, A., Peverali, G., Zuffardi, O., Ferguson-Smith, M., A new submicroscopic deletion that refines the 9p region of sex reversal (2000) Genomics, 65, pp. 203-212Raymond, C.S., Shamu, C.E., Shen, M.M., Seifert, K.J., Hisch, B., Hodgkin, J., Evidence for evolutionary conservation of sex-determining genes (1998) Nature, 391, pp. 691-694Pask, A.J., Behringer, R.R., Renfree, M.B., Expression of DMRT1 in the mammalian ovary and testis--from marsupials to mice (2003) Cytogenet Genome Res, 101, pp. 229-236Raymond, C.S., Parker, E.D., Kettlewell, J.R., Brown, L.G., Page, D.C., Kusz, K., A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators (1999) Hum Mol Genet, 8, pp. 989-996Furlong, R.A., Lyall, J.E., Lush, M.J., Affara, N.A., Ferguson-Smith, M.A., Four dinucleotide repeat polymorphisms on chromosome 9 (D9S143-146) (1992) Hum Mol Genet, 1, p. 447Cheng, H.H., Ying, M., Tian, Y.H., Guo, Y., McElreavey, K., Zhou, J.R., Transcriptional diversity of DMRT1 (dsx- and mab3-related transcription factor 1) in human testis (2006) Cell Res, 16, pp. 389-393Lu, H., Xiao, H., Liao, Z., Yiqing, G., Hanhua, C., Rongjia, Z., Multiple alternative splicing of mouse Dmrt1 during gonadal differentiation (2007) Biochem Biophys Res Commun, 352, pp. 630-634Smith, P.J., Zhang, C., Wang, J., Chew, S.L., Zhang, M.Q., Krainer, A.R., An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers (2006) Hum Mol Genet, 15, pp. 2490-2508Cartegni, L., Wang, J., Zhu, Z., Zhang, M.Q., Krainer, A.R., ESEfinder: A web resource to identify exonic splicing enhancers (2003) Nucleic Acid Res, 31, pp. 3568-3571Zhang, X.H., Chasin, L.A., Computational definition of sequence motifs governing constitutive exon splicing (2004) Genes Dev, 18, pp. 1241-1250Zhang, X.H., Kangsamaksin, T., Chao, M.S., Banerjee, J.K., Chasin, L.A., Exon inclusion is dependent on predictable exonic splicing enhancers (2005) Mol Cell Biol, 25, pp. 7323-7332Herpin, A., Nakamura, S., Wagner, T.U., Tanaka, M., Schartl, M., A highly conserved cis-regulatory motif directs differential gonadal synexpression of Dmrt1 transcripts during gonad development (2009) Nucleic Acids Res, 37, pp. 1510-152

The Inclusion Of New Techniques Of Chromosome Analysis Has Improved The Cytogenetic Profile Of Turner Syndrome [a Inclusão De Novas Técnicas De Análise Citogenética Aperfeiçoou O Diagnóstico Cromossômico Da Síndrome De Turner]

Objective: To evaluate the effect of the improvement of chromosome analysis on the cytoge- netic findings of Turner syndrome (TS) patients. Methods: Retrospective study of the results of the karyotypes of 260 patients with TS, regarding banding techniques, number of cells analyzed and results of investigation of Y-chromosome sequences. According to karyotype, divided in 45,X; sex chromosome mosaicism without Y; structural aberrations of sex chromosomes with or without mosaicism; sex chromosome mosaicism with Y. Results: 45,X was the most frequent karyotype (108), followed by structural aberrations (88) and mosaics (58 without Y and 6 with Y). Introduction of banding techniques and increase in the number of cells analyzed resulted in progressive decrease of 45,X karyotype and increase of structural aberrations. The study of Y- chromosome sequences was performed in 96 cases of which 10 resulted positive. Conclusions: Improvement of chromosome analysis over the years has modified the cytogenetic profile of TS.53911371142Nielsen, J., Vohlert, M., Sex chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark (1991) Birth Defects Orig Artic Ser., 24, pp. 209-223de la Chapelle, A., Sex chromosome abnormalities (1983) Principles and Practice of Medical Genetics, pp. 193-215. , In: Emey AEH, Rimon DL, editors, Edinburgh: Churchill LivingstoneHook, E.B., Warburton, D., The distribution of chromosomal genotypes associated with Turner syndrome: Livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism (1983) Hum Genet., 64, pp. 24-27Gravholt, C.H., Epidemiological, endocrine and metabolic features in Turner syndrome (2004) Eur J Endocrinol., 151, pp. 657-687Gravholt, C.H., Clinical practice in Turner syndrome (2005) Nat Clin Pract Endocrinol Metab., 1, pp. 41-52Hjerrild, B.E., Mortensen, K.H., Gravholt, C.H., Turner syndrome and clinical treatment (2008) Br Med Bull., 86, pp. 77-93Baxter, L., Bryant, J., Cave, C.B., Milne, R., Recombinant growth hormone for children and adolescents with Turner syndrome (2007) Cochrane Database Syst Rev., 24. , CD003887Held, K.R., Kerber, S., Kaminsky, E., Singh, S., Goetz, P., Seemanova, E., Mosaicism in 45,X Turner syndrome: Does survival in early pregnancy depend on the presence of two sex chromosomes? (1992) Hum Genet., 88, pp. 288-294Rochiccioli, P., Tauber, M.T., Le syndrome de Turner: Une revolution (1992) Arch Fr Pédiatr, 49, pp. 153-155Uzielli, M.L.G., Failli, M., Biondi, C., From chromosomes and genes to the discovery of Turner syndrome secrets (1993) Basic and Clinical Approach to Turner Syndrome, pp. 27-32. , In: Hibi I, Takano K, editors, Amsterdam: Elsevier Science Publishers B.VViguetti, N.L., Maciel-Guerra, A.T., Baixa estatura na infância e síndro-me de Turner: Uma associação mais freqüente do que se supõe (1994) J Pediatr (Rio J), 70, pp. 172-174Assumpção, J.G., (1998) Estudo De Seqüências Do Cromossomo Y Em Pacientes Com Distúrbios De Diferenciação Gonadal. Dissertação De Mestrado, , Instituto de Biologia, Universidade Estadual de CampinasLam, W.F., Hau, W.L., Lam, T.S., Evaluation of referrals for genetic investigation of short stature in Hong Kong (2002) Clin Med J., 115, pp. 607-611Carvalho, A.B., (2009) Fatores Associados Ao Encaminhamento De Pacientes Com Suspeita Clínica De Síndrome De Turner a Um Service Universitário De Referência, , Dissertação de Mestrado, Faculdade Ciências Médicas, Universidade Estadual de CampinasMaciel-Guerra, A.T., (1998) A Evolução Dos Diagnósticos Clínico E Citogenético Da Síndrome De Turner: Cherchez La Petite Fille. Tese De Livredocência, , Faculdade de Ciências Médicas, Universidade Estadual de CampinasFernández, R., Méndez, J., Pássaro, E., Turner syndrome: A study of chromosomal mosaicism (1996) Hum Genet., 98, pp. 29-35Beiguelman, B., (1982) As Cromossomopatias Autossômicas. In: Citogenética Humana, pp. 179-218. , Rio de Janeiro: Guanabara KooganViguetti-Campos, N.L., (1997) Estudo Da Seleção In Vitro De Linhagens 45,x Por Meio De Hibridização In Situ. Tese De Doutorado, , Instituto de Biologia, Universidade Estadual de CampinasLemos-Marini, S.H.V., Morcillo, A.M., Baptista, M.T.M., Guerra-Junior, G., Maciel-Guerra, A.T., Spontaneous final height in Turner's syndrome in Brazil (2007) J Pediatr Endocrinol Metab., 20, pp. 1207-1214Pelz, L., Timm, D., Eyermann, E., Hinkel, G.K., Kirchner, M., Verron, G., Body ́s height in Turner's syndrome (1982) Clin Genet., 22, pp. 62-66Ranke, M.B., Pfluger, H., Rosendahl, W., Stubbe, P., Enders, H., Bierich, J.R., Turner syndrome: Spontaneous growth in 150 cases and review of the literature (1983) Eur J Pediatr., 141, pp. 81-88Canto, P., Kofman-Alfaro, S., Jimenez, A.L., Soderlund, D., Barron, C., Reyes, E., Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences (2004) Cancer Genet Cytogenet., 150, pp. 70-72Horn, L.C., Limbach, A., Hoepffner, W., Trobs, R.B., Keller, E., Froster, U.G., Histologic analysis of gonadal tissue in patients with UllrichTurner syndrome and derivative Y chromosomes (2005) Pediatr Dev Pathol., 8, pp. 197-203Mazzanti, L., Cicognani, A., Baldazzi, L., Bergamaschi, R., Scarano, E., Strocchi, S., Gonadoblastoma in Turner syndrome and Y-chromosome-derived material (2005) Am J Med Genet., 135, pp. 150-154Brant, W.O., Rajimwale, A., Lovell, M.A., Travers, S.H., Furness 3rd, P.D., Sorensen, M., Gonadoblastoma and Turner Syndrome (2006) J Urol., 175, pp. 1858-186