The mucopolysaccharidoses (MPS) are a heterogeneous group of inherited metabolic disorders, each associated with a deficiency in one of the enzymes involved in glycosaminoglycan (GAG) catabolism. Over time, GAGs accumulate in cells and tissues causing progressive damage, a variety of multi-organ clinical manifestations, and premature death. Ear, nose, and throat (ENT) disorders affect more than 90% of MPS patients and appear in the early stage of MPS; also reported are recurrent otitis media and persistent otitis media with effusion, macroglossia, adenotonsillar hypertrophy, nasal obstruction, obstructive sleep apnoea syndrome (OSAS), hearing loss, and progressive respiratory disorders. Undiagnosed MPS patients are frequently referred to otolaryngologists before the diagnosis of MPS is confirmed. Otolaryngologists thus have an early opportunity to recognize MPS and they can play an increasingly integral role in the multidisciplinary approach to the diagnosis and management of many children with MPS. The ENT commitment is therefore to suspect MPS when non-specific ENT pathologies are associated with repeated surgical treatments, unexplainable worsening of diseases despite correct treatment, and with signs, symptoms, and pathological conditions such as hepatomegaly, inguinal hernia, macrocephaly, macroglossia, coarse facial features, hydrocephalous, joint stiffness, bone deformities, valvular cardiomyopathy, carpal tunnel syndrome, and posture and visual disorders.

Currently, there are no studies assessing everyday use of cochlear implant (CI) processors by recipients by means of objective tools. The Nucleus 6 sound processor features a data logging system capable of real-time recording of CI use in different acoustic environments and under various categories of loudness levels. In this study, we report data logged for the different scenes and different loudness levels of 1,366 CI patients, as recorded by SCAN. Monitoring device use in cochlear implant recipients of all ages provides important information about the listening conditions encountered in recipients' daily lives that may support counseling and assist in the further management of their device settings. The findings for this large cohort of active CI users confirm differences between age groups concerning device use and exposure to various noise environments, especially between the youngest and oldest age groups, while similar levels of loudness were observed.

Sensorineural hearing loss affects one to two children out of 1000 born apparently healthy and 9% approximately of those born with the risk of different pathologies. The origin of premature deafness is unknown in 25% of children whereas it is genetic in some cases. Prevention and early diagnosis, possibly within six to eight months, aim to avoid deafness becoming a cause of disability. The aim of the present study was to establish the optimal preoperative assessment with a diagnostic imaging protocol involving the integrated use of CT and MRI in the selection of the candidates for cochlear implantation. Twenty children were assessed, divided into three different groups: A) those who had CT only; B) those who had only MR; C) those who had both CT and MRI. The purpose was to estimate diagnostic accuracy in preoperative planning and the role of imaging in the diagnostic protocol for children's deafness. The petrous pyramid was studied with a CT Picker PQ 6000 system to high resolution in the axial and coronal planes, and with an MR Intera Philips 0.5 T device by means of acquisition of sequences B-TFE T2 3D and MIP reconstructions on radial coronal plans. This study was completed successfully for morphological brain MRI examination to complete the diagnosis. The following abnormalities were found in six patients (30%): one case of incomplete partition (Mondini malformation); two cases of vestibular aqueduct enlargement; two cases with anomalous jugular bulb positioning; one case with cochlear ossification. In the remaining 70%: eight patients had no anatomical anomalies; CT and MRI imaging were normal in six patients with minor abnormalities disclosed at surgery (one case of the stapedial artery emerging from the promontory); three anatomical variants of the round window, and two abnormal course of the facial nerve). We emphasize the importance of integrated CT and MRI imaging in the study of children with sensorineural hearing loss. The combination of CT and MRI has been shown to be superior to either modality used alone in view of "risk-free" cochear implantation. High resolution computed tomography and magnetic resonance images obtained by B-TFE T2-weighted 3D sequences help the surgeon in planning the operation and predict operative difficulty and potential complications in paediatric cochlear implant candidates.

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