Rehabilitation of a CI patient with CHARGE syndrome (clinical case) / Almanac #45 / Archive / Альманах Института коррекционной педагогики
ALMANAC Institute of Special Education
Almanac #45 "30 years of cochlear implantation in Russia"

Rehabilitation of a CI patient with CHARGE syndrome (clinical case)

L.A. Potalova National Research Centre for Audiology and Hearing Rehabilitation, Moscow, Moscow
A.V. Kruglov National Recearch Centre For Audiology And Hearing Rehabilitation, Moscow
T.V. Kulikova National Research Centre For Audiology And Hearing Rehabilitation. Institute of Special Education of the Russian Academy of Education, Moscow
E.V. Kurbatova National Recearch Centre For Audiology And Hearing Rehabilitation, Moscow
T.G. Markova National Recearch Centre For Audiology And Hearing Rehabilitation. Russian Medical Academy of Continuous Professional Education, Moscow
N.A. Mileshina National Research Centre for Audiology and Hearing Rehabilitation, Moscow
V.V. Bahshinyan National Recearch Centre For Audiology And Hearing Rehabilitation, Moscow
V.I. Fedoseev National Recearch Centre For Audiology And Hearing Rehabilitation. Russian Medical Academy of Continuous Professional Education, Moscow

The aim of the study was to describe a clinical case of medical and pedagogical rehabilitation of a deaf patient with CHARGE syndrome using cochlear implantation - a rare genetic disease with numerous congenital malformations caused in most patients by mutations in the CHD7 gene. A patient observed at the National Research Centre for Audiology and Hearing Rehabilitation with a diagnosis of bilateral deafness and was operated on the left ear with cochlear implant Nucleus CI 512 (Cochlear, Australia) at the age of 1 year 4 months. The difficulties of the surgical stage were caused by multiple anomalies of the middle and inner ear with the dystopia of the facial nerve. A navigation system and facial nerve monitoring were applied during the surgery. Difficulties of postoperative rehabilitation were associated with manifestations of the syndrome, which led to a delay in intellectual and physical development. The speech processor fitting was carried out jointly with the speech therapist based on the registration of objective datas and subjective reactions of the child. Speech therapy were organized individually and systematic. After 3 years and 4 months from the surgery, we observe the child's reactions to non-verbal, speech stimuli and whispers at a distance of 6 m, onomatopoeia, separate words, a short phrase, understanding of simple questions and assignments. Patients with CHARGE syndrome can be effectively rehabilitated by cochlear implantation, taking into account all the risks of surgery and based on the predicted results.

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