Auditory performance of cochlear implant children aged 2-5 years.

OBJECTIVE: To assess the categories of auditory performance in prelingual deaf children after implantation. STUDY DESIGN: Prospective study MATERIAL AND METHOD: The present study consisted of one boy and four girls aged between 2 and 5 years old at the time of implantation. All subjects had bilateral profound sensorineural hearing loss and received no substantial benefit from amplification. Three subjects were implanted with Med-El combi 40+ with CIS strategy and two subjects received multichanal monopolar Nucleus 24 cochlear implant with ACE strategy. After implantation, all subjects undertook a program ofhabilitation at the Speech and Hearing Clinic Ramathibodi Hospital. The Categories of Auditory Performance (CAP) score was determined at regular intervals prior to implantation, immediately at the initial mapping (0) and 3, 6, 12 and 18 months after the implantation. RESULTS: The results showed that before implantation, only three children showed awareness of environment sounds, CAP score level 1, and that immediately after mapping, all of the children demonstrated awareness of the environmental sounds. Moreover, two of these children showed awareness of speech sounds, CAP score level 2. The CAP scores were gradually increased over a 12-month period. At the 12-month assessment interval, four children could discriminate two speech sounds, CAP score level 4 and one child understood phrases without lip reading, CAP score level 5. 18 months after of implantation, the CAP score for four children increased to level 5. One child understood conversation without lip reading with a familiar talker, CAP score level 6. Furthermore, children with congenital hearing loss who underwent implantation at a younger age received more benefit from the implantation. CONCLUSION: The CAP score was found to be a useful and sensitive tool to evaluate the outcome of auditory receptive abilities in young congenital deaf children who underwent cochlear implantation. The accessible outcome measurement will provide information for parents and professionals to obtain a hierarchical scale on which the children's auditory ability with other more formal measures may be inappropriate.

Clinical and molecular characterization of an extended family with Fabry disease.

OBJECTIVE: To characterize clinical manifestations, biochemical changes, mutation of alpha-Galactosidase (alpha-Gal A) gene A (GLA), and functional capability of mutant protein. MATERIAL AND METHOD: Seventeen subjects from a family with a newly diagnosed patient with Fabry disease were enrolled in the present study. In each individual, clinical history, physical examination, leukocyte enzyme activity of alpha-Gal A, and mutation analysis were performed. Those with a mutation were further investigated by ophthalmological and audiological evaluations, electrocardiography, echocardiogram, urinalysis, and blood tests to determine renal insufficiency. Expression study of the mutant protein was performed using a Pichia pastoris expression system. RESULTS: Four affected males and five symptomatic female carriers were identified. Clinical manifestations included severe neuropathic pain, acroparesthesia, hypo-/hyper-hidrosis, frequent syncope, ischemic stroke, cardiac hypertrophy, corneal dystrophy and cart-wheel cataract, high frequency sensorineural hearing loss, periorbital edema and subcutaneous edema over hands and interphalangeal joints. None had angiokeratoma or renal symptoms. The authors identified a novel mutation, p.L106R, in the GLA gene. Recombinant expression of the mutant protein gave little or no enzyme activity compared to the normal protein. CONCLUSION: There were intrafamilial clinical variabilities, but consistent findings of the absence of angiokeratoma and renal symptoms, which could represent a unique feature of this particular mutation.