We report a child, diagnosed with Coffin-Siris syndrome (CSS), with chronic right otorrhoea. CT and DR-MRI were performed to further investigate, diagnose and determine relevant surgical anatomy. CT temporal bones assessment was performed, and the measurements compared with previously published data for normal temporal bone anatomy. These comparisons highlighted various differences which were not initially expected; it showed that there were multiple inner ear abnormalities in addition to middle ear disease. This case highlights the importance of considering temporal bone abnormalities in all children with CSS or any dysmorphia, when they may require mastoid procedures. Reviewing the management of this case provides relevant learning opportunities for both primary, secondary and tertiary care institutions.

Cochleocele is an extrusion or herniation of the endosteum, through an incomplete stapes footplate, into the middle ear. The cochleocele may rupture resulting in a cerebrospinal fluid leak into the middle ear space causing a risk of menigitis. We report six cases of Incomplete Partition Type I with cochleocele which have all been successfully treated using a Totally Endoscopic Ear Surgery approach even during infancy. As the first two cases developed post-operative pseudomonas meningitis, preventative strategies are recommended.

The use of propranolol for the treatment of subglottic haemangioma has become hugely popular due to its effectiveness and safety profile. We report a case of 7-month-old boy who presented with stridor and histopathology suggestive of subglottic haemangioma following microlaryngoscopy and bronchoscopy (MLB). However, he did not respond to propranolol treatment. This could be due to an older age of propranolol commencement. In general, early commencement of propranolol is necessary when diagnosis of symptomatic infantile haemangioma is made to achieve maximal improvement in symptoms and prevent further proliferation. There should be a high index of suspicion for subglottic haemangioma in children presenting with chronic biphasic stridor, with early MLB and diagnosis. This will allow early treatment, giving the best chance to avoid our situation.

Management of third and fourth branchial cleft anomalies are similar. These anomalies should be suspected in a child with recurrent low-anterior neck abscess. Investigations in the form of cross-sectional studies and examination of the pharynx under anaesthesia will facilitate diagnosis and resolution of abscess. Spontaneous closure of the pyriform sinus can occur following conservative management with antibiotic treatment and abscess drainage. This emphasise the role of second-look prior to implementing endoscopic cauterisation or surgery.

Patients with cystic fibrosis (CF) are at increased risk of nasal polyps. We present the case of a 17-month-old Caucasian patient with CF who presented with hypertelorism causing cycloplegic astigmatism, right-sided mucoid discharge, snoring and noisy breathing. Imaging suggested bilateral mucoceles in the ethmoid sinuses. Intraoperatively, bilateral soft tissue masses were noted, and both posterior choanae were patent. Polypectomy and bilateral mega-antrostomies were performed. Histological examination revealed inflammatory nasal polyposis typical of CF. The role of early functional endoscopic sinus surgery (FESS) in children with CF nasal polyposis remains questionable as the recurrence rate is higher, and no improvement in pulmonary function has been shown. Our case, however, clearly demonstrates the beneficial upper airway symptom relief and normalisation of facial appearance following FESS in a child with this condition.

Cochlear implants allow children with severe to profound hearing loss to gain access to sound. This should be true regardless of the child's cognitive function, and yet there is some hesitancy about providing cochlear implants to children with cognitive delays or impairments. Hearing loss may be accompanied by cognitive deficits in the presence of a recognized syndrome (e.g., CHARGE or Trisomy 21) or after infectious etiologies including meningitis and cytomegalovirus. It is very difficult to assess the presence or degree of cognitive delay in infants, but, for toddlers and children, delays in cognitive development may already have been diagnosed by the time a referral for hearing testing is made. In some cases, the audiologist might raise a suspicion of cognitive impairments based on clinical observations, including the child's inability to provide reliable behavioral responses to sound or vibrotactile stimuli using age-appropriate audiometric measures (despite multiple attempts). Determining the potential risks and benefits of cochlear implantation can be more difficult in children who do not have age-appropriate cognitive skills, making the assessment of candidacy for cochlear implantation challenging in some cases. In this article, we will discuss factors that must be considered when deciding whether or not to provide a cochlear implant to such children. In some circumstances, cochlear implantation may not be recommended for children with cognitive delays. This decision will involve an assessment of the risks of cochlear implantation as well as an effort to predict expected outcomes. DEFINING RISKS OF IMPLANTATION Any family considering cochlear implantation for their child must be made aware of the risks of the surgery. Moreover, children who are able to assent to treatment themselves must do so. In the case of an older child who may have cognitive impairment, it is essential to determine if the child can give assent for cochlear implantation. It is also important to identify any concerns the child may have regarding this procedure. It is our responsibility to provide information about the potential short- and long-term risks to the family and, if appropriate, to the potential recipient. First, we must determine if cochlear implantation will damage residual hearing that could be used with or without hearing aids. This can be difficult to determine in children with cognitive delays who, like very young children, may be unable to provide reliable responses to sound in behavioral audiometric assessments. In such cases, we can use objective measures of auditory function (e.g., otoacoustic emissions, electrophysiological measures, stapedius reflexes) combined with a period of hearing aid use to monitor any progress in the child's hearing ability. Whenever possible, this monitoring is best done by a team of people who closely observe the child, including parents, caregivers, teachers, and therapists. Secondly, the risks of surgery must be discussed. These include intra-operative risks related to anesthesia and the implant surgery itself, as well as post-operative risks such as bleeding and infection. Longer-term risks include the potential for the device to malfunction and for removal to be required sometime during the patient's lifetime. Identifying device failure might be more difficult in children with cognitive impairments than in peers with more typical development of skills. This is because a problem related to the implant is often discovered when the user complains about his or her hearing with the device or the family notices a decrement in hearing or speech. There is a greater risk of missing a problem related to malfunctioning of the cochlear implant in a child who is unable to indicate that he/she is experiencing unusual hearing sensations or difficulties. This is also true of very young children. One of our options is to ask the educators and therapists who interact with the child frequently to indicate or confirm if they have noticed a negative change in hearing performance or noticeable slowing of progress. However, a potential problem with this approach is that it assumes that the same people are consistently involved in the child's education, care, and services. While we can insist on a period of trial therapy with hearing aids prior to cochlear implantation to assess the child's use of residual hearing, it is not feasible to mandate these services, which are not typically provided by the cochlear implant program, throughout the long term of cochlear implant use. Thus, we should consider if the risk of missing a potential device failure is reasonable for any particular child given the potential benefits of implantation for that child. This also speaks to the need for continued communication between all those involved in the child's care and education throughout his or her life. Finally, we try to ensure that there is absolutely no risk of providing uncomfortable stimulation through the cochlear implant. In our clinic, we use physiological measures to assess loudness and loudness growth evoked by electrical stimulation (i.e., electrically evoked responses from the auditory system and the electrically evoked stapedial reflex).1,2 We can also use electrophysiological measures to identify non-auditory stimulation3-5 and to help guide how we set the electrical stimulation provided from the cochlear implant.1,6,7 However, we need children to provide behavioral responses to noxious or unpleasant sensations from the cochlear implant so that we can change the stimulation parameters if needed to eliminate any discomfort. If we are concerned during candidacy assessment that a child may be unable to provide this behavioral feedback, we suggest that it is currently unsafe to provide that child with a cochlear implant. This ability can be reassessed as the child ages, but we would always prefer to limit the duration of deafness prior to implantation. Future methods of testing implant performance may be able to reduce the chance of providing unwanted stimulation from the device. PREDICTING BENEFITS OF COCHLEAR IMPLANTATION Many, but not all, of the risks discussed are considered reasonable to undertake if the child's potential for acquiring hearing is good. In some centrers, such as ours, we also expect that better hearing will allow the child to develop usable oral speech and language. Unfortunately, it can be very difficult to predict outcomes in children with multiple disabilities including cognitive impairment. Some work has been done in this area and the general feeling is that most children with cognitive delays show improved hearing with some speech perception, but that their skills lag behind those of their peers who are otherwise developing typically.8-11 Yoshinaga-Itano et al. reported that early-identified children with cognitive impairments outperformed late-identified deaf children without cognitive impairments.12 Thus, the principles of early detection of hearing loss and early intervention are just as applicable in the child with multiple disabilities. With the advent of universal newborn hearing screening, the diagnosis of hearing impairment will in some cases precede that of cognitive impairment/developmental delay. In other words, the cognitive impairment may not be discovered until after cochlear implantation when language acquisition is seen to be delayed. In an effort to better predict cochlear implant outcomes in children with multiple disabilities, our group analyzed pre-implant functional disabilities and post-operative speech perception scores in 66 children with at least one disability in addition to their hearing loss.13 We asked if the functional disabilities identified in children prior to cochlear implantation could predict post-implant outcome. To answer this question, we devised a Functional Disability Score by modifying the Battelle Developmental Inventory Screening Test.14 The children in the study were scored by their audiologist (with information from their speech and auditory verbal therapists) in each of eight domains. The more cognitively influenced domains included Cognition, Receptive Language, Expressive Language, Personal-Social and Articulation. We also assessed Gross Motor Skills, Fine Motor Skills, and Receptive Vision. We scored the skills in each domain on a scale from 1 (severe delay) to 4 (age-appropriate skills) for a maximum developmental score of 32. We then created the Pediatric Ranked Order Speech Perception (PROSPER) score to evaluate speech perception outcomes in these children.13 This score was needed because assessments of speech perception after cochlear implantation in this group required several different tests. The PROSPER score allowed us to place the individual speech perception tests in a hierarchical order providing one score that could be used to follow progress over time (see Table 1). It was based on the progression of simple sound detection through pattern perception, closed-set, and open-set word recognition, described by Geers and Moog.15TABLE 1: Pediatric ranked order speech perception score.Importantly, we found a significant relationship between the pre-implant Functional Disability Score and post-implant PROSPER score, even after adjustment for age, age at activation, and duration of implant use. More specifically, the Functional Disability Score significantly predicted high (k>24) and low (k<7) PROSPER scores of post-implant speech perception. We have suggested that this information is useful in counseling parents regarding implantation because there may be children for whom these devices provide minimal benefit or perhaps have a disruptive influence on other areas of development. CONCLUSIONS AND TAKE HOME MESSAGE Cochlear implantation may provide significant benefits for children with cognitive delay. However, the risks associated with this patient group must be weighed against expected benefits. We suggest that, for children who are unable to provide reliable behavioral responses, the risks of providing uncomfortable stimulation through the cochlear implant or for missing device malfunctions may be too great to be justified by the potential benefits. The clinician must carefully consider the prospective benefits for each child, knowing that increasing functional disability (including cognitive domains) is associated with worsening post-implant speech-perception scores.

Objectives To describe a cadaveric temporal bone model of labyrinthitis ossificans and investigate the utility of intraoperative cone‐beam computed tomography (CBCT) in the facilitating cochlear implantation. Design Cadaveric temporal bone study. Methods Five cadaveric heads had cement introduced into the 10 cochleas. CBCT and a conventional CT scan were compared to assess the extent of cochlear obliteration. The cement was drilled‐out (under CBCT guidance, if required) and cochlear implant electrode arrays (from 3 different manufacturers) inserted. Results CBCT images demonstrated temporal bone anatomy and the extent of cochlear obliteration as clearly as conventional CT in all cases. Intraoperative CBCT guided drilling and facilitated electrode placement in two of five heads (3 of 10 ears). Streak‐artifact from the electrodes of two devices partially obscured image clarity. Conclusions The obliterated cochlear model reproduced a disease‐ossified cochlear both radiographically and surgically. CBCT is useful for intraoperative imaging to facilitate electrode array placement in the obliterated or congenitally abnormal cochlea.

BACKGROUND Children with multiple disabilities account for a small percentage of implantees in a cochlear implant program, but they remain the most challenging group for which to predict benefit from the implant and for cooperation with habilitation postoperatively. PURPOSE To assess the relationship of pre-implant functional disabilities with postoperative speech perception scores and determine the feasibility of predicting outcome with a cochlear implant in a multiply disabled pediatric population. RESEARCH DESIGN Retrospective cohort study. STUDY SAMPLE Sixty-six children with a cochlear implant and at least one additional disability. DATA COLLECTION AND ANALYSIS We retrospectively examined the relationship between pre-implant Graded Profile Analysis (GPA) scores and postimplant speech perception scores. A pre-implant functional disability score (based on the Battelle developmental screen) was applied to the same cohort of patients and its association with postimplant speech perception scores was examined. RESULTS The functional disability score significantly predicted high (k > 24) and low (k < 7) speech perception scores (p < 0.001 and p < .0001) and had excellent discrimination ability (c statistic = 0.88 and 0.93 respectively). The GPA score was not significantly associated with speech perception scores (p = 0.519 and p = 0.146) and demonstrated no ability to discriminate postimplant speech perception scores in this implant population (c statistic = 0.49 and c = 0.57). CONCLUSIONS Prediction of outcomes following cochlear implantation in multiply disabled children can be facilitated using this newly developed functional disability score as an adjunct to traditional candidacy assessments.

Foreign body ingestion remains a frequent cause of morbidity in infants and children. Symptoms vary with size, shape, location and composition of the foreign body. Flat objects tend to rotate to the greatest diameter of the esophageal lumen and become oriented in the coronal plane. We report two cases of ingested metallic mesh earphone pieces found in the upper esophagus. The foreign bodies were difficult to identify on posteroanterior images, but were more easily visualized on the lateral images. The presentation of this clinical entity and the recognition of its distinctive radiological findings may prevent a delayed diagnosis in the future and avoid potential complications.

Objective: To investigate and compare the usefulness of preoperative magnetic resonance (MR) imaging and high-resolution temporal bone computed tomography (HRCT) in pediatric cochlear implant candidates. Study Design: Prospective. Setting: Tertiary referral center. Patients: A cohort of 92 pediatric patients with profound hearing. Inclusion criteria were MR, computed tomography, and cochlear implantation. Intervention. Diagnostic: All patients had preoperative imaging of the petrous temporal bone (HRCT, T2-weighted fast spin echo, axial 3D Fast Imaging Employing Steady-state Acquisition [FIESTA] MR) and brain (Fast Fluid-attenuated Inversion-recovery [FLAIR] MR). Main Outcome Measure(s): Overall prevalence of inner ear dysplasias in this population and comparison of detection rates between HRCT, T2 Fast Spin Echo (FSE), and FIESTA MR sequences. Results: Radiological abnormalities were observed in 32 and 59% of MR and HRCT temporal bone, respectively. Synchronous intracranial findings were noted in 40% on brain MR. Common vestibulocochlear nerve was observed in 3% ears and directed side of implantation. Consistent discrepancies noted on HRCT were inability to diagnose early obliterative labyrinthitis and presence of the cochlear nerve in the internal auditory canal. With respect to MR, enlarged vestibular aqueducts and narrow cochlear nerve canals were consistently under identified. Conclusion: Dual-modality imaging with HRCT and MR of petrous bone and MR brain in the precochlear implant pediatric population detects abnormalities related to deafness, which would not otherwise be found using either modality alone. There is overlap between the imaging modalities in the type of abnormalities detected, and we present a case for selective use of HRCT within a diagnostic algorithm, using the patient risk factors we have identified.

To support the role of DISC1 in human psychiatric disorders, we identified and analyzed two independently derived ENU-induced mutations in Exon 2 of mouse Disc1. Mice with mutation Q31L showed depressive-like behavior with deficits in the forced swim test and other measures that were reversed by the antidepressant bupropion, but not by rolipram, a phosphodiesterase-4 (PDE4) inhibitor. In contrast, L100P mutant mice exhibited schizophrenic-like behavior, with profound deficits in prepulse inhibition and latent inhibition that were reversed by antipsychotic treatment. Both mutant DISC1 proteins exhibited reduced binding to the known DISC1 binding partner PDE4B. Q31L mutants had lower PDE4B activity, consistent with their resistance to rolipram, suggesting decreased PDE4 activity as a contributory factor in depression. This study demonstrates that Disc1 missense mutations in mice give rise to phenotypes related to depression and schizophrenia, thus supporting the role of DISC1 in major mental illness.