Evaluation of a Less Invasive Cochlear Implant Surgery in OPA1 Mutations Provoking Deafblindness.

Cochlear implantation (CI) for deafblindness may have more impact than for non-syndromic hearing loss. Deafblind patients have a double handicap in a society that is more and more empowered by fast communication. CI is a remedy for deafness, but requires revision surgery every 20 to 25 years, and thus placement should be minimally invasive. Furthermore, failed reimplantation surgery will have more impact on a deafblind person. In this context, we assessed the safety of minimally invasive robotically assisted cochlear implant surgery (RACIS) for the first time in a deafblind patient. Standard pure tone audiometry and speech audiometry were performed in a patient with deafblindness as part of this robotic-assisted CI study before and after surgery. This patient, with an optic atrophy 1 (OPA1) (OMIM#165500) mutation consented to RACIS for the second (contralateral) CI. The applicability and safety of RACIS were evaluated as well as her subjective opinion on her disability. RACIS was uneventful with successful surgical and auditory outcomes in this case of deafblindness due to the OPA1 mutation. RACIS appears to be a safe and beneficial intervention to increase communication skills in the cases of deafblindness due to an OPA1 mutation. The use of RACIS use should be widespread in deafblindness as it minimizes surgical trauma and possible failures.

Long-Term Follow-Up with Video of a Patient with Deafness-Dystonia Syndrome Treated with DBS-GPi.

BACKGROUND: The prevalence of deafness-dystonia syndrome (DDS) is relatively low. To our knowledge, only 2 cases of this syndrome treated with deep brain stimulation (DBS) have been reported. OBJECTIVES: We present a patient with DDS of unknown cause, refractory to medical treatment, who has been successfully treated with DBS of the internal globus pallidus (DBS-GPi) and followed up for 4 years. METHODS: A 21-year-old male, with progressive bilateral sensorineural hearing loss since the age of 3, developed dystonic movements at the age of 12. The patient presented with progressive segmental craniocervical dystonia with jaw-opening, tongue protrusion, retrocollis and gradual overflow including upper limb dystonia. Pharmacological therapy was ineffective. At the age of 17, the patient's condition deteriorated with the risk of developing a dystonic state. RESULTS: DBS-GPi implantation resulted in a striking improvement. The Burke-Marsden-Fahn Dystonia Rating Scale (BMFDRS) score improved from 75 points before the surgery to 10 points at 3 months after DBS-GPi implantation. Neurological examination at the age of 21 showed mild dystonic movements, mainly oromandibular dystonia (BMFDRS: 15 points). The clinical phenotype of our patient was consistent with Mohr-Tranebjaerg syndrome (MTS). We performed genetic analysis of the TIMM8A gene (the only gene in which mutations are known to cause MTS), but the result was negative; however, other potentially new mutations have to be considered. CONCLUSIONS: Based on our case with the longest reported follow-up of 4 years and 2 earlier reports, we advise to consider DBS-GPi in patients with DDS with unsatisfactory effect of pharmacological treatment.

Outcomes for children with deaf-blindness with cochlear implants: a multisite observational study.

INTRODUCTION: Children with dual sensory impairments are receiving cochlear implants; however, little is known regarding their language outcomes. MATERIALS AND METHODS: Children between the ages of 6 months and 8 years with dual sensory impairment and cochlear implant(s) were recruited from across the United States to participate in an evaluation of language skills using the Reynell-Zinkin Developmental Scales, a tool validated on children with vision impairment and adapted for children with hearing loss. Basic demographic information was also collected from care givers. RESULTS: Ninety-one children completed assessments after implantation. For receptive language abilities, 32% of children obtained a level of sound detection, 15% obtained the ability to understand simple words, 21% could identify words, 5% could follow simple directions, and 22% could follow directions related to the functional use of objects. Four children had no response to sound after cochlear implantation. For expressive language abilities, 49% only had sound production skills, 9% could jargon, 18% could communicate with some words, 12% could communicate with simple sentences, and 12% could communicate with complex sentences. Children with lower developmental ages (or quotients) tended to obtain lower level expressive language skills such as sound production and jargoning. Developmental abilities, rather than age at implant, were the most robust predictor associated with outcomes. DISCUSSION: This information can guide cochlear implant centers when discussing outcomes with families in the cochlear implant candidacy process. There is great heterogeneity in outcomes and caution should be used in discussing possible language outcomes for children with dual sensory impairments.