KID 증후군 아동의 인공와우이식 후 청능재활 사례
Aural Rehabilitation after Cochlear Implantation in a Child with Keratitis-Ichthyosis-Deafness (KID) Syndrome
0
조회
0
다운로드
3
인용
0
참고문헌
키워드
초록
Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia characterized by vascularizing keratitis, profound sensorineural hearing loss (SNHL), and progressive erythrokeratoderma. It is a clinical triad that indicates a failure in development and differentiation of multiple stratifying epithelia. KID syndrome has been associated with mutations in the gene encoding connexin 26, a gap junction protein. The aim of this case review was to investigate auditory performances after cochlear implantation and emphasize the importance of auditory rehabilitation. The results of this case suggested that auditory performances and communication skills of a child with KID syndrome have improved through the cochlear implantation and aural rehabilitation. In particular listening tests of Listening Progress Profile (Lip Profile) and Meaningful Auditory Integration Scale (MAIS), the scores have improved from 52% to 97% and 20% to 80%, respectively. The results of this study suggested that auditory rehabilitation and cochlear implantation in children with (KID) syndrome can be effective and important.
Abstract
Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia characterized by vascularizing keratitis, profound sensorineural hearing loss (SNHL), and progressive erythrokeratoderma. It is a clinical triad that indicates a failure in development and differentiation of multiple stratifying epithelia. KID syndrome has been associated with mutations in the gene encoding connexin 26, a gap junction protein. The aim of this case review was to investigate auditory performances after cochlear implantation and emphasize the importance of auditory rehabilitation. The results of this case suggested that auditory performances and communication skills of a child with KID syndrome have improved through the cochlear implantation and aural rehabilitation. In particular listening tests of Listening Progress Profile (Lip Profile) and Meaningful Auditory Integration Scale (MAIS), the scores have improved from 52% to 97% and 20% to 80%, respectively. The results of this study suggested that auditory rehabilitation and cochlear implantation in children with (KID) syndrome can be effective and important.
참고문헌 (14)
- 김란, "Keratitis, Ichthyosis, and Deafness(KID)증후군 1례", Korean Journal of Pediatrics, 46(11), pp.1135~1138 (2003), 대한소아과학회
- 정재훈, "키드 증후군의 안과적 증상과 조직학적 특징", 대한안과학회지, 49(9), pp.1532~1538 (2008), 대한안과학회
- Arndt S, "A novel dominant an a de novo mutation in the GJB2 (connexin-26) cause keratitis-ichthyosis-deafness syndrome: implication for cochlear implantation", Otol Neurotol, 31, pp.210~215 (2010)
- Barker EJ, "Cochlear implantation in children with keratitisichthyosis- deafness (KID) syndrome: outcomes in three cases", Cochlear Implants Int, 10(3), pp.166~173 (2009)
- Brent K, "Connexin 26 mutaion in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss", Int J Dermatol, 47, pp.443~447 (2008)
- 김란, "Keratitis, Ichthyosis, and Deafness(KID)증후군 1례", Korean Journal of Pediatrics, 46(11), pp.1135~1138 (2003), 대한소과학회
- Caceress H, "Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology", Pediatr Dermatol, 13, pp.105~113 (1996)
- Chen X, "The characteristics and development of auditory skill for infants with different age after cochlear implantation", J Clin Otolaryngol Head Neck Surg, 23(4), pp.148~150 (2009)
- Cryns K, "A genotype-phenotype correlation for GJB2 (connexin 26) deafness", Am J Med Genet, 41(3), pp.147~154 (2004)
- Cushing SL, "Successful cochlear implantation in a child with Keratosis, Icthiosis and Deafness (KID) Syndrome and Dandy- Walker malformation", Int J Pediatr Otorhinolaryngol, 72, pp.693~698 (2008)
- Richard G, "Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Kera titis-Ichthyosis-Deafness Syndrome", Am J Hum Genet, 70(5), pp.1341~1348 (2002)
- Szymko-Bennett YM, "Auditory manifestations of Keratitis-Ichthyosis-Deafness (KID) syndrome", Laryngoscope, 112(2), pp.272~280 (2002)
- Tye-Murray N, "Foundation of Aural Rehabilitation: Children, adults and their family embers" (2004), Singular
- Yotsumoto S, "Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome", Brit J Dermatol, 148, pp.649~653 (2003)