Use of a monitoring tool for growth and development in Brazilian children – systematic review / Uso de instrumento de acompanhamento do crescimento e desenvolvimento da criança no Brasil – revisão sistemática de literatura

To assess the use of a health monitoring tool in Brazilian children, with emphasis on the variables related to growth and development, which are crucial aspects of child health care. Data source: A systematic review of the literature was carried out in studies performed in Brazil, using the Cochrane Brazil, Lilacs, SciELO and Medline databases. The descriptors and keywords used were “growth and development”, “child development”, “child health record”, “child health handbook”, “health record and child” and “child handbook”, as well as the equivalent terms in Portuguese. Studies were screened by title and summary and those considered eligible were read in full. Data synthesis: Sixty-eight articles were identified and eight articles were included in the review, as they carried out a quantitative analysis of the filling out of information. Five studies assessed the completion of the Child's Health Record and three of the Child's Health Handbook. All articles concluded that the information was not properly recorded. Growth monitoring charts were rarely filled out, reaching 96.3% in the case of weight for age. The use of the BMI chart was not reported, despite the growing rates of childhood obesity. Only two studies reported the completion of development milestones and, in these, the milestones were recorded in approximately 20% of the verified tools. Conclusions: The results of the assessed articles disclosed underutilization of the tool and reflect low awareness by health professionals regarding the recording of information in the child's health monitoring document.

Avaliar o uso de instrumento de acompanhamento de saúde da criança, com ênfase nas variáveis do acompanhamento do crescimento e do desenvolvimento, eixo central do cuidado à saúde infantil. Fontes dos dados: Feita revisão sistemática da literatura de estudos no Brasil nas bases de dados Cochrane Brasil, Lilacs, SciELO e Medline. Os descritores e as palavras-chave usadas foram “crescimento e desenvolvimento”, “desenvolvimento infantil”, “cartão da criança”, “caderneta de saúde da criança”, “cartão e criança” e “caderneta da criança”. Os estudos foram rastreados por título e resumo e foi feita a leitura completa daqueles considerados elegíveis. Síntese dos dados: Foram identificados 68 artigos e oito foram incluídos no estudo por fazer a análise quantitativa do preenchimento. Cinco estudos avaliaram o preenchimento do Cartão da Criança e três da Caderneta de Saúde da Criança. Todos os artigos concluíram que as informações não foram adequadamente registradas. Os gráficos de acompanhamento do crescimento raramente foram preenchidos e chegaram a 96,3% no caso de peso para a idade. O uso do gráfico do IMC não foi relatado, a despeito do quadro crescente da obesidade infantil. Apenas dois estudos referiram preenchimento dos marcos do desenvolvimento e, nesses, houve registro dos marcos em aproximadamente 20% dos instrumentos verificados. Conclusões: Os resultados dos artigos revistos evidenciam subutilização do instrumento e refletem baixa sensibilização dos profissionais de saúde para o registro no documento de acompanhamento de saúde da criança.

Repeatability and Diagnostic Value of Nasal Potential Difference in a Genetically Admixed Population.

BACKGROUND: The genetic diversity of the Brazilian population results from three ethnic groups admixture: Europeans, Africans and Amerindians, thus increasing the difficulty of performing cystic fibrosis (CF) diagnosis. The nasal potential difference (NPD) evaluates the cystic fibrosis transmembrane conductance regulator (CFTR) and epithelial sodium channel (ENaC) activity. Despite being a useful CF diagnostic test and a biomarker of CFTR-modulator drugs, it is also highly operator dependent. Therefore, it may be difficult to get accurate results and to interpret them. Wilschanski and Sermet scores were proposed to address these issues. This study aimed to evaluate repeatability and diagnostic value of NPD parameters and Wilschanski and Sermet scores in a CF center in Rio de Janeiro. METHODS: NPD was performed in 78 subjects. Maximal PD, amiloride response, total chloride response, and Wilschanski and Sermet scores were explored as means (confidence interval, CI). One-way ANOVA was used to compare mean differences and Scheffe test was used to pair-wise comparisons. Repeatability was evaluated by scatter and Bland-Altman plots. The Ethics Committee of the CF Center has approved the study protocol. Parents and adult participants signed an informed consent form. RESULTS: Forty-eight healthy-volunteers, 19 non-CF and 11 CF patients were enrolled in this study. Significant differences were found when comparing CF patients' NPD parameters to the other two groups (P = 0.000). Moreover, no significant differences were found when parameters from non-CF patients were compared with those from healthy volunteers (P > 0.05). The means of NPD parameters and diagnostic scores of each group were in concordance with disease/non-disease conditions. The repeatability data - Wilschanski and Sermet and NPD - allow NPD to be performed in this Brazilian CF Center. CONCLUSIONS: The present study gathered consistent data for Bland-Altman plots. The results of Wilschanski and Sermet diagnostic scores suggest that they were concordant with CF/non-CF conditions. More NPD tests should be performed in the Rio de Janeiro CF dynamic cohort to contribute to international NPD validation studies and to provide NPD as a biomarker in Brazil.

[Use of a monitoring tool for growth and development in Brazilian children - systematic literature review]. / Uso de instrumento de acompanhamento do crescimento e desenvolvimento da criança no Brasil - Revisão sistemática de literatura.

OBJECTIVE: To assess the use of a health monitoring tool in Brazilian children, with emphasis on the variables related to growth and development, which are crucial aspects of child health care. DATA SOURCE: A systematic review of the literature was carried out in studies performed in Brazil, using the Cochrane Brazil, Lilacs, SciELO and Medline databases. The descriptors and keywords used were "growth and development", "child development", "child health record", "child health handbook", "health record and child" and "child handbook", as well as the equivalent terms in Portuguese. Studies were screened by title and summary and those considered eligible were read in full. DATA SYNTHESIS: Sixty-eight articles were identified and eight articles were included in the review, as they carried out a quantitative analysis of the filling out of information. Five studies assessed the completion of the Child's Health Record and three of the Child's Health Handbook. All articles concluded that the information was not properly recorded. Growth monitoring charts were rarely filled out, reaching 96.3% in the case of weight for age. The use of the BMI chart was not reported, despite the growing rates of childhood obesity. Only two studies reported the completion of development milestones and, in these, the milestones were recorded in approximately 20% of the verified tools. CONCLUSIONS: The results of the assessed articles disclosed underutilization of the tool and reflect low awareness by health professionals regarding the recording of information in the child's health monitoring document.

Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report.

BACKGROUND: Over 1900 mutations have been identified in the cystic fibrosis conductance transmembrane regulator gene, including single nucleotide substitutions, insertions, and deletions. Unidentified mutations may still lie in introns or in regulatory regions, which are not routinely investigated, or in large genomic deletions, which are not revealed by conventional molecular analysis. The apparent homozygosity for a rare, cystic fibrosis conductance transmembrane regulator mutation screened by standard molecular analysis should be further investigated to confirm if the mutation is in fact homozygous. We describe a patient presenting with an apparent homozygous S4X mutation. CASE PRESENTATION: A 13-year-old female patient of African descent with clinical symptoms of classic cystic fibrosis and a positive sweat test (97 mEq/L, diagnosed at age 3 years) presented with pancreatic insufficiency and severe pulmonary symptoms (initial lung colonization with Pseudomonas aeruginosa at age 4 years; forced vital capacity: 69%; forced expiratory volume: 51%; 2011). Furthermore, she developed severe acute lung disease and recurrent episodes of dehydration requiring hospitalization. The girl carried the CFTR mutation S4X in apparent homozygosity. However, further analysis revealed a large deletion in the second allele that included the region of the mutation. The deletion that we describe includes nucleotides 120-142, which correspond to a loss of 23 nucleotides that abolishes the normal translation initiation codon. CONCLUSION: This study reiterates the view that large, cystic fibrosis conductance transmembrane regulator deletions are an important cause of severe cystic fibrosis and emphasizes the importance of including large deletions/duplications in cystic fibrosis conductance transmembrane regulator diagnostic tests.