Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.

Usher syndrome is an autosomal recessive disorder manifesting hearing loss, retinitis pigmentosa and vestibular dysfunction, and having three clinical subtypes. Usher syndrome type 1 is the most severe subtype due to its profound hearing loss, lack of vestibular responses, and retinitis pigmentosa that appears in prepuberty. Six of the corresponding genes have been identified, making early diagnosis through DNA testing possible, with many immediate and several long-term advantages for patients and their families.

Cochlin-tomoprotein (CTP) detection test identified perilymph leakage preoperatively in revision stapes surgery.

Perilymphatic fistula (PLF) is defined as an abnormal leakage between perilymph from the labyrinth to the middle ear. Symptoms include hearing loss, tinnitus, and vertigo. The standard mode of PLF detection is intraoperative visualization of perilymph leakage and fistula, which ostensibly confirms the existence of PLF.

Syntactic development in Japanese hearing-impaired children.

Objectives: This study examined syntactic development of auditory comprehension of sentences in Japanese-speaking school-age children with and without hearing impairment.

Methods: In total, 592 preschool and school-age children (421 normal-hearing and 171 hearing-impaired) were included in this cross-sectional observation study conducted using the Syntactic Processing Test for Aphasia for Japanese language users. Linear regression analysis was used to determine the estimated age at which each syntactic structure was acquired.

Language ability in the intermediate-scoring group of hearing-impaired children.

Objectives: Language development is a key issue in hearing-impaired children. However, interpersonal differences complicate our understanding of the situation. The bimodal or trimodal distribution of language scores in our other reports in this publication imply the presence of fundamental differences among these groups.

Effects of early identification and intervention on language development in Japanese children with prelingual severe to profound hearing impairment.

Objectives: Early identification and intervention for prelingual bilateral severe to profound hearing loss is supposed to reduce the delay in language development. Many countries have implemented early detection and hearing intervention and conducted regional universal newborn hearing screening (UNHS). However, the benefits of UNHS in later childhood have not yet been confirmed, although language development at school age has a lifelong impact on children's future.

Assessment package for language development in Japanese hearing-impaired children (ALADJIN) as a test battery for the development of practical communication.

Objectives: The measurement of language development in hearing-impaired children is an important step in assessing the appropriateness of an intervention. We proposed a set of language tests (the Assessment Package for Language Development in Japanese Hearing-Impaired Children [ALADJIN]) to evaluate the development of practical communication skills. This package consisted of communication skills (TQAID), comprehensive (PVT-R and SCTAW) and productive vocabulary (WFT), comprehensive and productive syntax (STA), and the STRAW.

Pilot study of universal newborn hearing screening in Japan: district-based screening program in Okayama.

Objectives: Newborn hearing screening was started in Okayama Prefecture in 2001 as part of a nationwide pilot study in Japan. Nearly 50,000 infants have been screened to date, and an observational study and more than 2 years of follow-up of this population are described in this report.

Methods: Between June 2001 and March 2005 (45 months), 47,346 neonates were screened with automated auditory brain stem response systems and followed up for at least 2 years.

Longitudinal formant analysis after cochlear implantation in school-aged children.

Introduction: The purpose of this investigation was to describe the correlation between vocal and hearing development by longitudinal analysis of sound spectrograms, as a basic system for evaluating progress in vocal development.

Subjects And Methods: Two school-aged children with prelingual deafness were evaluated diachronically to assess speech perception and speech intelligibility after cochlear implantation. One child had non-syndromic hearing impairment without any known neurological deficit except for hearing loss, while the other had hearing impairment accompanied by mild mental retardation and attention deficit disorder.