International journal of pediatric otorhinolaryngology
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Int. J. Pediatr. Otorhinolaryngol. · Mar 2010
Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.
Mutations in DFNB1 locus, containing GJB2 (connexin 26) and GJB6 (connexin 30) genes, are the most common cause of autosomal recessive non-syndromic hearing loss. More than 100 mutations in GJB2 have been reported worldwide. Two deletions in GJB6, del(GJB6-D13S1830) and del(GJB6-D13S1854), have been found to be frequent in the Spanish population. The aim of this study was to determine the prevalence of GJB2 mutations and both GJB6 deletions in Argentinean children with non-syndromic deafness. ⋯ The overall frequency of GJB2/GJB6 mutations in the present sample is in agreement with other Caucasian populations. As expected, c.35delG was the most prevalent mutation. The deletion del(GJB6-D13S1830) was the second most common mutation. These findings reinforce the importance of the study of GJB2/GJB6 genes in diagnosis to provide early treatment and genetic counselling.
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Int. J. Pediatr. Otorhinolaryngol. · Mar 2010
Effects of adeno-tonsillectomy on polysomnography patterns in Down syndrome children with obstructive sleep apnea: a comparative study with children without Down syndrome.
To determine if adeno-tonsillectomy (T&A) in children with Down syndrome (DS) improves breathing, measured by apnea hypopnea index (AHI), rapid eye movement AHI (REM-AHI) and the lowest oxygen desaturation (SaO2), and sleep disruption, measured by arousal index (ArI) and time spent in stages 1-4 and rapid eye movement (REM) sleep and compare these results with a group of non-DS children with obstructive sleep apnea (OSA). ⋯ This study supports the fact that T&A in DS children improves some parameters of OSA, however not as markedly as in non-DS children.