METHODS: A retrospective descriptive cohort study on the audiological findings detected during the first hearing assessment done on a child with craniosynostosis using otoacoustic emissions, pure tone audiometry or auditory brainstem response examination. The main aim of this study was to evaluate the type and severity of hearing loss when compared between syndromic and non-sydromic craniosynostosis, and other associated contributory factors.
RESULTS: A total of 31 patients with 62 ears consisting of 14 male patients and 17 female patients were evaluated. Twenty two patients (71%) were syndromic and 9 (29%) were non-syndromic craniosynostosis. Amongst the syndromic craniosynostosis, 9 (41%) had Apert syndrome, 7 (32%) had Crouzon syndrome, 5 (23%) had Pfieffer syndrome and 1 (4%) had Shaethre Chotzen syndrome. Patients with syndromic craniosynostosis were more likely to present with all types and severity of hearing loss, including severe to profound sensorineural hearing loss while children with non-syndromic craniosynostosis were likely to present with normal hearing (p loss including sensorineural hearing loss is more likely to be present in a child with syndromic craniosynostosis (p loss, including that of a severe to profound degree compared to children with non-syndromic craniosynostosis. In addition to that, hearing loss is more likely to be detected when the first hearing test is done at a later age, and this can be an irreversible sensorineural hearing loss. We would like to advocate the need for early audiological screening and follow up in children with syndromic craniosynostosis.
CASE REPORT: We present the case of a 38-year-old multipara woman whose first trimester screening showed a normal karyotype. However, the bilateral femur and humerus length symmetrically shortened after 20 weeks. Next-generation sequencing for mutations in potential genes leading to skeletal dysplasia detected a novel de novo mutation (c.1438G > A, p.Gly480Arg) in COL2A1, causing Stickler syndrome type 1. This pathogenic mutation might impair or destabilize the collagen structure, leading to collagen type II, IX, and XI dysfunction.
CONCLUSION: We identified a novel de novo mutation in COL2A1 related to the STL1 syndrome and delineated the extent of the skeletal dysplasia disease spectrum.
OBJECTIVE: To study the effectiveness of distortion product otoacoustic emission (DPOAE) and automated auditory brainstem response (AABR) as first screening tool among non-risk newborns in a hospital with high delivery rate.
METHOD: A total of 722 non-risk newborns (1444 ears) were screened with both DPOAE and AABR prior to discharge within one month. Babies who failed AABR were rescreened with AABR ± diagnostic auditory brainstem response tests within one month of age.
RESULTS: The pass rate for AABR (67.9%) was higher than DPOAE (50.1%). Both DPOAE and AABR pass rates improved significantly with increasing age (p-value<0.001). The highest pass rate for both DPOAE and AABR were between the age of 36-48 h, 73.1% and 84.2% respectively. The mean testing time for AABR (13.54 min ± 7.47) was significantly longer than DPOAE (3.52 min ± 1.87), with a p-value of <0.001.
CONCLUSIONS: OAE test is faster and easier than AABR, but with higher false positive rate. The most ideal hearing screening protocol should be tailored according to different centre.
MATERIALS AND METHODS: The HRCT and MR imaging in 46 cochlear implant patients in our department were reviewed.
RESULTS: Majority of our patients [34 patients (73.9%)] showed normal HRCT of the temporal bone; 5 (10.9%) patients had labyrinthitis ossificans, 2 (4.3%) had Mondini's abnormality and 2 (4.3%) had middle ear effusion. One patient each had high jugular bulb, hypoplasia of the internal auditory canal and single cochlear cavity, respectively.
CONCLUSION: The above findings contribute significantly to our surgical decisions regarding candidacy for surgery, side selection and surgical technique in cochlear implantation.
MATERIALS AND METHODS: The EEG signal was used as a brain response signal, which was evoked by two auditory stimuli (Tones and Consonant Vowels stimulus). The study was carried out on Malaysians (Malay and Chinese) with normal hearing and with hearing loss. A ranking process for the subjects' EEG data and the nonlinear features was used to obtain the maximum classification accuracy.
RESULTS: The study formulated the classification of Normal Hearing Ethnicity Index and Sensorineural Hearing Loss Ethnicity Index. These indices classified the human ethnicity according to brain auditory responses by using numerical values of response signal features. Three classification algorithms were used to verify the human ethnicity. Support Vector Machine (SVM) classified the human ethnicity with an accuracy of 90% in the cases of normal hearing and sensorineural hearing loss (SNHL); the SVM classified with an accuracy of 84%.
CONCLUSION: The classification indices categorized or separated the human ethnicity in both hearing cases of normal hearing and SNHL with high accuracy. The SVM classifier provided a good accuracy in the classification of the auditory brain responses. The proposed indices might constitute valuable tools for the classification of the brain responses according to the human ethnicity.