Cross-cultural adaptation of the new Reynell developmental language scales to Brazilian Portuguese.

OBJECTIVE: Translation and cross-cultural adaptation of The New Reynell Developmental Language Scales (NRDLS) to Portuguese spoken in Brazil. METHOD: We followed the steps recommended in the manual Multilingual Toolkit da NRDLS: translation of the test, adaptation of items from the scales, and use of NRDLS in a pilot study with Brazilian children. It was included a back-translation and analysis by a group of specialists in the area that helped to review the adapted version. A quantitative descriptive analysis of results from the pilot group was performed, and we used a one-way repeated measures ANOVA. RESULTS: The Brazilian Portuguese version of the NRDLS seems very similar to the original NRDLS in terms of conceptual equivalence. The children understood well the translated and adapted words, and they had more difficulty in the last sessions. Some of the mistakes made by the children helped us to adapt specific items for a better evaluation of the abilities of Brazilian children. CONCLUSION: The suggestions in the Multilingual Toolkit, the input from the group of specialists, and the experience with the children in the pilot group helped the adaptation of the NRDLS to Brazilian Portuguese. The adapted version of NRDLS was effective, it reflected the gradual evolution of complexity in the scales. We suggest the application of the adapted version in a large group of children with normal development to validate it.

Analysis of the presence of the GJB6 mutations in patients heterozygous for GJB2 mutation in Brazil.

Mutations in the GJB2 gene, mainly 35delG, are responsible for most autosomal recessive inherited genetic hearing loss. The audiometric standard of these hearing losses remains inconsistent and other genes, such as GJB6, have been involved in association with GJB2. The objective of the study was to identify the deletions del(GJB6-D13S1830) and del(GJB6-D13S1854) in patients heterozygous for 35delG/GJB2 and analyze the phenotype they present. 101 patients with mild to profound degree of sensorineural hypoacusis were evaluated. The allele-specific PCR technique was used to identify 35delG. The del(GJB6-D13S1830) and del(GJB6-D13S1854) were identified through the PCR multiplex technique. 90% of the subjects presented a normal genotype for the analyzed mutations; 6.93% were shown to be heterozygous for 35delG/GJB2 and 1% presented compound heterozygosis GJB2/GJB6). The data found reinforced the hypothesis of an interaction of more than one gene as the cause of autosomal recessive genetic hearing loss and emphasized the importance of an early diagnosis for appropriate intervention.

Birth prevalence and natural history of congenital cytomegalovirus infection in a highly seroimmune population.

BACKGROUND: The natural history of congenital cytomegalovirus (CMV) infection is scarcely known in populations with high maternal CMV seroprevalence. This study evaluated the birth prevalence, clinical findings at birth, and hearing outcome in CMV-infected children from such a population. METHODS: Consecutively born infants were screened for the presence of CMV in urine and/or saliva specimens during the first 2 weeks after birth. Neonatal clinical findings were recorded, and CMV-infected children were tested to document hearing function during follow-up. A subset of mothers of CMV-infected infants were prenatally tested for the presence of anti-CMV immunoglobulin G antibodies. RESULTS: Congenital CMV infection was confirmed in 87 (1.08%; 95% confidence interval [CI], 0.86%-1.33%) of 8047 infants. Seven infants (8.1%; 95% CI, 3.3%-15.9%) had at least 1 clinical finding suggestive of CMV infection, and 4 (4.6%; 95% CI, 1.3%-11.3%) had >3 findings of systemic disease. Sensorineural hearing loss was found in 5 (8.6%; 95% CI, 2.9%-19.0%) of 58 children tested at a median age of 21 months. Bilateral profound hearing loss was observed in 2 children, and the hearing threshold was >60 decibels in all 5 children with hearing loss, including 2 children born to mothers with probable nonprimary CMV infection. CONCLUSIONS: The results of this large newborn screening study in a population with high CMV seroimmunity provide additional evidence that congenital CMV disease occurs in populations with high seroprevalence rates, with a similar incidence of CMV-related hearing loss to that reported in the offspring of women from populations in developed countries with lower rates of seroimmunity to CMV.