Clinical profile of children with down syndrome treated in a genetics outpatient service in the southeast of Brazil / Perfil clínico de crianças com síndrome de down atendidas em um ambulatório de genética na região sudeste do Brasil

OBJECTIVE: Considering that studies about the frequencies of phenotypic features of Down syndrome (DS) in the Brazilian population with large ethnic variability are scarce in literature, this study analyzed clinical and demographic characteristics of DS children from the Southeastern region of Brazil. METHODS: Sixty-two DS children with free trisomy 21 were evaluated by physical examination using reference values that considered the children´s gender and age at their presentation. Data about clinical complications were collected by retrospective analysis of the children's medical records and/or information supplied by their mothers. Statistical analysis was performed using Likelihood Ratio Test, with significance level less or equal to 5 percent. RESULTS: Clinical features observed in more than 90 percent of the individuals were flat facial profile, brachycephaly, slanted palpebral fissures, hypotonia at birth and flat nasal bridge. Congenital heart disease was present in 56.5 percent of the cases, verbal language acquisition disorder in 87 percent, and global delayed development in 77.8 percent. CONCLUSION: The comparison between our data and related literature showed a great variability of the phenotype features frequencies of DS among studies. Besides environmental factors, this can reflect individual as well as population characteristics.

OBJETIVO: Considerando que estudos relacionados às frequências das características fenotípicas da síndrome de Down (SD) na população brasileira, que apresenta grande variabilidade étnica, são escassos na literatura, este estudo analisou características clínicas e demográficas de crianças com SD da região Sudeste do Brasil. MÉTODOS: Sessenta e duas crianças com SD com trissomia livre do 21 foram avaliadas por meio de exame físico utilizando-se valores de referência que consideram o gênero e idade da criança na data da avaliação. Dados sobre complicações clínicas foram coletados por análise retrospectiva dos prontuários médicos e/ou informação das mães. A análise estatística foi realizada utilizando-se o teste da razão de máxima verossimilhança com nível de significância menor ou igual a 5 por cento. RESULTADOS: As características clínicas observadas em mais de 90 por cento dos pacientes foram perfil facial achatado, braquicefalia, fenda palpebral oblíqua, hipotonia muscular ao nascimento e ponte nasal baixa. Doenças cardíacas congênitas estiveram presentes em 56,5 por cento dos casos, distúrbio de aquisição de linguagem em 87 por cento e atraso do desenvolvimento global em 77,8 por cento. CONCLUSÃO: A comparação entre nossos dados e a literatura prévia mostrou grande variabilidade das características fenotípicas da SD entre os estudos. Isso pode refletir características individuais e populacionais, além de fatores ambientais.

Study on the Social Adaptation of Chinese Children with Down Syndrome

PURPOSE: To evaluate social adjustment and related factors among Chinese children with Down syndrome (DS). PATIENTS AND METHODS: A structured interview and Peabody Picture Vocabulary Test (PPVT) were conducted with a group of 36 DS children with a mean age of 106.28 months, a group of 30 normally-developing children matched for mental age (MA) and a group of 40 normally-developing children matched for chronological age (CA). Mean scores of social adjustment were compared between the three groups, and partial correlations and stepwise multiple regression models were used to further explore related factors. RESULTS: There was no difference between the DS group and the MA group in terms of communication skills. However, the DS group scored much better than the MA group in self-dependence, locomotion, work skills, socialization and self-management. Children in the CA group achieved significantly higher scores in all aspects of social adjustment than the DS children. Partial correlations indicate a relationship between social adjustment and the PPVT raw score and also between social adjustment and age (significant r ranging between 0.24 and 0.92). A stepwise linear regression analysis showed that family structure was the main predictor of social adjustment. Newborn history was also a predictor of work skills, communication, socialization and self-management. Parental education was found to account for 8% of self-dependence. Maternal education explained 6% of the variation in locomotion. CONCLUSION: Although limited by the small sample size, these results indicate that Chinese DS children have better social adjustment skills when compared to their mental-age-matched normally-developing peers, but that the Chinese DS children showed aspects of adaptive development that differed from Western DS children. Analyses of factors related to social adjustment suggest that effective early intervention may improve social adaptability.

Prevalencia de malformaciones congénitas al nacer y factores asociados en Isla de Pascua, Chile: 1988-1998 / Prevalence of congenital malformations and associated factors in Easter Island, Chile

Background: Consanguinity plays an important role in the genetic etiology of congenital malformations. In Easter Island the degree of consanguinity could be higher than in continental Chile. Therefore the study of the prevalence of congenital malformations in this island seems worthwhile. Aim: To study the prevalence of congenital malformations at birth in Easter Island. Material and methods: A review of personal and family features of all children born alive between 1988 and 1998 in the Rapa Nui Hospital of Easter Island. Results: During the study period, 772 newborns were reviewed and 22 were found to have congenital malformations. Among the latter, birth weight fluctuated between 3001 and 4000 g and the male/female ratio was 0.54. No differences in maternal age between children with and without malformations was observed. Heart and circulatory malformations, hemangiomas and Down syndrome were the predominant malformations. Conclusions: The prevalence of congenital malformations at birth in Easter Island is similar to that of continental Chile. No neural tube defects were detected in this sample