Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are found in up to 50% of patients with autosomal recessive nonsyndromic hearing loss. Because of the high frequency of GJB2 mutations, mutation analysis of this gene is widely available as a diagnostic test. In this study, we assessed the association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations. We performed cross-sectional analyses of GJB2 genotype and audiometric data from 1,531 persons, from 16 different countries, with autosomal recessive, mildto-profound nonsyndromic HI. The median age of all participants was 8 years; 90% of persons were within the age range of 0-26 years. Of the 83 different mutations identified, 47 were classified as nontruncating, and 36 as truncating. A total of 153 different genotypes were found, of which 56 were homozygous truncating (T/T), 30 were homozygous nontruncating (NT/NT), and 67 were compound heterozygous truncating/nontruncating (T/ NT). The degree of HI associated with biallelic truncating mutations was significantly more severe than the HI associated with biallelic nontruncating mutations (). The HI of 48 different genotypes was less severe P ! .0001 than that of 35delG homozygotes. Several common mutations (M34T, V37I, and L90P) were associated with mildto-moderate HI (median 25-40 dB). Two genotypes-35delG/R143W (median 105 dB) and 35delG/dela(GJB6-D13S1830) (median 108 dB)-had significantly more-severe HI than that of 35delG homozygotes.

ABSTRACT. Objective. The pathophysiological mechanisms of growth impairment frequently associated with the obstructive sleep apnea syndrome (OSAS) in children are poorly defined. The main objective of this study was to evaluate whether nighttime upper airway obstruction attributable to adenotonsillar hypertrophy and subsequent surgical treatment affect the circulating concentrations of insulin-like growth factor-I (IGF-I) and IGFbinding protein 3 (IGFBP-3) along with other growth parameters in children.Patients and Methods. We initially studied 70 children (mean age: 5.8 years; range: 2.4 -10.5 years) admitted to a university hospital because of clinical symptoms of OSAS. Their sleep was monitored with a 6-channel computerized polygraph. Data on anthropometry and circulating concentrations of IGF-I and IGFBP-3 were generated and compared with corresponding characteristics in control children (N ‫؍‬ 35). Thirty children with an obstructive apnea-hypopnea index (OAHI) of 1 or more were categorized as children with OSAS (mean OAHI: 5.4 [95% confidence interval for mean (CI): 3.8 -6.9]), whereas 40 children with an OAHI of <1 were considered as primary snorers (PS) (mean OAHI 0.13 [95% CI: 0.05-0.21]). Nineteen children with OAHI >2 underwent adenotonsillectomy attributable to OSAS and were reassessed 6 months later together with 34 nonoperated children with OAHI <2.Results. There were no initial differences in relative height and weight for height between the 3 groups of children. No differences were observed in peripheral IGF-I concentrations, but both OSAS and PS children had reduced peripheral IGFBP-3 levels. The operated children with initial OSAS experienced a highly significant reduction in their OAHI from 7.1 (95% CI: 5.1-9.1) to 0.37 (95% CI: 0.2-0.95). Weight-for-height, body mass index, body fat mass, and fat-free mass increased during the follow-up in the operated children with OSAS, whereas only fat-free mass and relative height increased in the PS children. Both the IGF-I and the IGFBP-3 concentrations increased significantly in the operated children, whereas no significant changes were seen in the PS children.Conclusions. These observations indicate that growth hormone secretion is impaired in children with OSAS and PS. Respiratory improvement after adenotonsillectomy in children with OSAS results in weight gain and restored growth hormone secretion. Pediatrics 2002;109(4). URL: http://www.pediatrics.org/cgi/content/full/109/4/e55; snoring, obstructive sleep apnea, growth hormone, insulinlike growth factor-I, insulin-like growth factor-binding protein 3.ABBREVIATIONS. OSAS, obstructive sleep apnea syndrome; GH, growth hormone; IGF-I, insulin-like growth factor-I; IGFBP-3, insulin-like growth factor-binding protein 3; PS, primary snorer; EMG, electromyogram; OAHI, obstructive sleep apnea-hypopnea index; SDS, standard deviation score; BMI, body mass index; SWS, slow-wave sleep. S noring is relatively common in children, with the prevalence of regular snoring about 10% in preschool-aged subjects. 1-3 Obs...

Half of the children or fewer with symptoms suggestive of OSAS actually had the condition. Clinical symptoms may raise the suspicion, but it is not possible to establish the diagnosis without PSG. Because snoring and obstructive symptoms may resolve over time, a normal PSG finding may help the clinician decide on an observation period. Adenotonsillectomy is curative in most cases of pediatric OSAS. Obstructive symptoms may continue after adenoidectomy alone.

Paranasal sinus osteomas are benign tumours, occasionally known to cause complications. They have a tendency to grow slowly, but the growth rate has never been evaluated previously. We retrospectively studied 44 patients with paranasal sinus osteomas. In 13 out of the 23 patients who underwent at least two sinus radiographs at different times some growth was seen. The mean growth rate of these 13 osteomas was 1.61 mm/yr, range 0.44 to 6.0 mm/yr. The endoscopic technique is a good method for the removal of osteomas and obliteration of the frontal sinus does not seem to be necessary. Two patients having osteomas with intracranial expansion are described.

The aim of the present study was to examine the effects of nocturnal breathing disorders such as obstructive sleep apnoea (OSA) and snoring on developing dental arches. The study group comprised 41 children (22 males, 19 females, mean age 7.2 years, standard deviation 1.93) with diagnosed OSA. Age- and gender-matched groups of 41 snoring and 41 non-obstructed control children were selected. Orthodontic examination was carried out and dental impressions were taken. Malocclusions were diagnosed clinically and 13 linear variables were measured from the dental casts. The differences between the dental arch measurements of the OSA, snoring, and control groups were studied using analysis of variance followed by Duncan's multiple comparison method. Children with diagnosed OSA had a significantly increased overjet, a reduced overbite, and narrower upper and shorter lower dental arches when compared with the controls. Snoring children had similar but not as significant differences as OSA children when compared with the controls. There were more children with an anterior open bite (AOB) in the OSA group (P=0.016) and with a Class II or asymmetric molar relationship in the groups of OSA (P=0.013) and snoring (P=0.004) subjects compared with the non-obstructed controls. There were more subjects with mandibular crowding (P=0.002) and with an AOB (P=0.019) with an increasing obstructive apnoea-hypopnoea index (AHI). These findings are in agreement with previous studies of the effects of increased upper airway resistance on dental arch morphology and can be explained by long-term changes in the position of the head, mandible, and tongue in order to maintain airway adequacy during sleep.