Influence of hearing loss and cognitive abilities on language development in CHARGE Syndrome.

Hearing loss and cognitive delay are frequently occurring features in CHARGE syndrome that may contribute to impaired language development. However, not much is known about language development in patients with CHARGE syndrome. In this retrospective study, hearing loss, cognitive abilities, and language development are described in 50 patients with CHARGE syndrome. After informed consent was given, data were collected from local medical files. Most patients (38.3%; 18/47 patients) had moderate hearing loss (41-70 dB) and 58.5% (24/41 patients) had an IQ below 70. The mean language quotients of the receptive and expressive language were more than one standard deviation below the norm. Both hearing loss and cognitive delay had an influence on language development. Language and cognitive data were not available for all patients, which may have resulted in a pre-selection of patients with a delay. In conclusion, while hearing thresholds, cognitive abilities and language development vary widely in CHARGE syndrome, they are mostly below average. Hearing loss and cognitive delay have a significant influence on language development in children with CHARGE syndrome. To improve our knowledge about and the quality of care we can provide to CHARGE patients, hearing and developmental tests should be performed regularly in order to differentiate between the contributions of hearing loss and cognitive delay to delays in language development, and to provide adequate hearing amplification in the case of hearing loss. © 2016 Wiley Periodicals, Inc.

Hearing Restoration in Cochlear Nerve Deficiency: the Choice Between Cochlear Implant or Auditory Brainstem Implant, a Meta-analysis.

OBJECTIVE: To answer the dilemma clinician's face when deciding between cochlear implant (CI) and auditory brainstem implant (ABI) treatment options in patients with cochlear nerve deficiency (CND). STUDY DESIGN: Case study supplemented with literature review and meta-analysis. SETTING: Tertiary referral center. PATIENT(S): Child with CHARGE syndrome and congenital deafness. INTERVENTION(S): ABI as there was no benefit after bilateral cochlear implantation. MAIN OUTCOME MEASURES: Speech and language development, quality of life. RESULTS: In one ear the cochleovestibular nerve was present on magnetic resonance imaging (MRI) without preoperative ABR responses. In the contra lateral ear the nerve could not be identified, despite present ABR responses. Nevertheless, there was no positive outcome with CI. The patient had improved speech and language and quality of life with ABI. Of the 108 patients with CND and CI identified in the literature review, 25% attained open-set speech perception, 34% attained closed-set speech perception, and 41% detected sounds or less. The appearance of the cochlear nerve on MRI was a useful predictor of success, with cochlear nerve aplasia on MRI associated with a smaller chance of a positive outcome post cochlear implantation compared with patients with cochlear nerve hypoplasia. CONCLUSION: Although patients with (apparent) cochlear nerve aplasia are less likely to benefit from CI, CI before ABI is supported as some patients attain closed or open-set levels of speech perception after cochlear implantation.

Cochlear Implantation in a Patient with Kabuki Syndrome.

Criteria for cochlear implants are expanding and now include children with disabilities in addition to hearing loss, such as those with Kabuki syndrome (KS). This case report describes language outcomes and changes in the quality of life of a female child with KS after cochlear implantation. The subject had a profound progressive sensorineural hearing loss, cognitive impairments, and other disabilities and communicated using vocalized sounds and the Dutch Sign Language. After cochlear implantation at an age of nine years and three months, the patient displayed no progress in speech production and minimal progress in receptive language development, but she had an increased awareness of the world and an increase in the quality of life.

Suggestions for a Guideline for Cochlear Implantation in CHARGE Syndrome.

OBJECTIVE: Identifying aspects for establishing cochlear implantation guidelines for patients with ocular coloboma, heart defects, atresia of the choanae, retardation (of growth and/or of development), genital anomalies, and ear anomalies (CHARGE) syndrome (CS). STUDY DESIGN: Explorative retrospective study. SETTING: Cochlear implant (CI)-centers of tertiary referral centers in The Netherlands. PATIENTS: Ten patients with CS who received a CI between 2002 and 2012. INTERVENTIONS: Describing the challenges and benefits of cochlear implantation in CS. MAIN OUTCOME MEASURES: Imaging and surgical findings, language development, and Quality-of-life (QoL), compared with two control groups: 1) 34 non-syndromic CI-users and 2) 13 patients with CS without CI because of sufficient hearing. RESULTS: Subjective and objective audiometry and magnetic resonance imaging were necessary to confirm the presence of the cochlear nerve. Surgery in CS was challenging because of enlarged emissary veins, semi-circular-canal aplasia, aberrant facial nerve, and dysplastic cochlear windows, making computed tomography indispensable in surgical preparations. No major intraoperative complications occurred. Despite additional handicaps, all patients showed auditory benefit and improvement in disease-specific QoL. Patients implanted at a relatively young age (≤37 months) followed by a long period of CI-use (>5 years) and with minor additional problems, developed spoken language at a basic level comparable to that of the control group of CS patients. CONCLUSION: A CI should be considered in all patients with CS and severe sensorineural hearing loss. A careful work-up is required, comprising computed tomography, magnetic resonance imaging, objective, and subjective audiometry and assessment by a specialized multidisciplinary team. Cochlear implantation in CS might be complicated by syndrome-related temporal-bone anatomy, and the outcome of the CI is more individually determined. Early implantation should be aimed for.

Cytomegalovirus DNA detection in dried blood spots and perilymphatic fluids from pediatric and adult cochlear implant recipients with prelingual deafness.

BACKGROUND: Congenital cytomegalovirus (CMV) infection is the leading cause of non-genetic congenital hearing loss. The contribution of congenital CMV to prelingual deafness and the pathophysiology is largely unknown. OBJECTIVE: (1) To analyze the prevalence of congenital CMV among cochlear implant (CI) recipients with prelingual deafness. (2) To genotype CMV present in dried blood spots (DBS) and in the inner ear years after birth. STUDY DESIGN: Children and adults with prelingual deafness who received a CI in 2010-2011 were included prospectively. Perilymphatic fluids were collected during CI surgery and, in the pediatric cases, DBS were retrieved for CMV DNA detection. Furthermore, a cohort of children with prelingual deafness who received a CI between 2003 and 2008 were included retrospectively. CMV detection in DBS and perilymph was followed by gB and gH genotyping. RESULTS: Seventysix pediatric CI recipients were included. Seventy DBS were tested for CMV DNA, resulting in a prevalence of congenital CMV of 14% (10/70). Perilymphatic fluid was available from 29 pediatric CI recipients. One perilymph fluid, of a 21-month old girl with congenital CMV, asymptomatic at birth, was CMV DNA positive. The CMV strain in the perilymph was genotypically identical to the strain present in her DBS (gB1/gH2). Perilymph samples from 21 adult CI recipients were CMV DNA negative. CONCLUSIONS: Our study stresses the important contribution of congenital CMV among pediatric CI recipients. Furthermore, our genotyping data support the hypothesis that CMV-related hearing loss is associated with ongoing viral replication in the inner ear up to years after birth.