Pediatric Otorhinolaryngology Japan

In 2004, 6493 infants were born in Tokushima Prefecture, and 2894 infants (45%) received the newborn hearing screening. Twenty three infants did not pass and were referred for a confirmatory auditory test, but only 12 infants were examined by otolaryngologists. Bilateral hearing loss was diagnosed in one infant, and he received early speech and language intervention from the age of 4 months. The newborn hearing screening did not identify one infant with progressive bilateral hearing loss, which was diagnosed at the age of 2 years and 11 months. On the other hand, among 3599 unscreened infants (55%), bilateral hearing loss was diagnosed in five infants who received speech and language intervention from the age of 22 to 61 months. These findings indicate that diagnosis and treatment are delayed in infants with congenital hearing loss who did not receive the newborn hearing screening.

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GJB2 gene mutations are the most common cause of congenital hearing loss. These mutations generally cause non-progressive hearing loss. In the present study, we examined the relationship between genotypes and progressive hearing loss in 97 patients diagnosed with GJB2 mutations. The genotype 235 delC, common among Asians, was the most frequent, while no 35 delG, common among Westerners, was observed. Of 41 patients, excluding those presenting with severe hearing loss from the beginning, hearing was measured twice or more at 1-year or longer intervals in 32. One apparent case and three suspected cases of advanced hearing loss were identified. No specific trend in genotypes was observed. Progressive hearing loss is rarely seen in patients with GJB2 mutations. No specific genotype causing progressive hearing loss was identified. However, severe hearing loss significantly affects language development in infants. Hearing loss should be carefully followed up, given that it progresses in some cases with GJB2 gene mutations.

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Congenital microtia occurs in approximately 1:10,000–20,000 births as a result of aberrant development of the first and second branchial arches. We studied 73 children who underwent plastic surgery for external ear malformations between December 2010 and May 2013 at the Sapporo Medical University Hospital. The preponderance in males (71%) and on the right side (62%) was the same as in previous reports. Microtia was complicated by congenital stenosis or atresia in most cases (74%). The number of bilateral cases was lower than previously reported (8%). We classified the patient ears using the Marx classification. The pure-tone average (the average of air conduction thresholds at 500, 1,000, and 2,000 Hz) was used as representative values of the hearing level. The hearing levels were compared with Marx classification results. We evaluated the position of the facial nerve by high-resolution CT scans. Thorough knowledge of anatomical variations, complications, and subsequent appropriate treatments are needed for otolaryngologists to effectively manage congenital microtia.

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The perioperative period of airway surgery on children with severe motor and intellectual disabilities (CSMID) is difficult to manage due to the number and severity of their comorbidities. The aim of the present study was to analyze CSMID who underwent airway surgery to clarify which clinical variables might predict the occurrence of problems in airway surgery of CSMID and adequate management to ensure a safe outcome. Medical records at Yamagata University Hospital were retrospectively investigated for CSMID between 2001 and 2012, and 24 CSMID for whom an operation was verified were identified. Details were reviewed including clinical status, category and purpose of surgery, age distribution, and outcome. CSMID under the age of 2 accounted for about 60% of all cases, with infants being the most common. CSMID underwent airway surgery for the purpose of securing the airway in about 50% of cases, while aspiration prevention was the purpose in about 40%. Tracheostomy was involved in 40% of the operations to prevent aspiration. Half of the CSMID underwent an operation to prevent aspiration after the age of 6 because aspiration became more severe as thoracic deformity worsened over time. Because CSMID need careful perioperative management and have the possibility of requiring additional surgery at various ages, we must take appropriate action depending on the situation in collaboration with pediatricians. It is important to promote understanding of the need for appropriate airway surgery within affected families and obtain further details about the need to operate.

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