Etiology of Childhood Profound Sensorineural Hearing Loss: The Role of Hearing Loss Gene Panel Testing.

OBJECTIVE: Establishing the cause of hearing loss (HL) is important and rewarding, though not without its challenges. While our ability to identify the etiology for HL has improved with advances in scientific knowledge, a significant proportion of cases remain of unknown etiology. Recent protocol changes within the NHS Genomic Medicine Service support the utilization of the HL gene panel test, rather than individual gene tests. In light of these changes, determining the yield of these more extensive panel tests is important in informing future practice. STUDY DESIGN: Retrospective study. SETTING: The Cochlear Implant (CI) Department at Great Ormond Street Hospital (GOSH). METHODS: Four hundred seventy-six children with profound HL were identified from a database of referrals to the GOSH CI Department. Data on etiology of HL including genetic diagnosis was collected from hospital notes on an electronic patient records system and hospital genetics database. RESULTS: We identified a positive result in 163/476 (34%) cases through the gene panel test, representing an additional 19% yield to current level 1 investigations. Genetic HL, including both syndromic (including those not covered by the HL gene panel) and nonsyndromic (209/476, 44%) was the most common etiology in our cohort. Perinatal, intrauterine, ototoxicity, meningitis, and encephalitis categories altogether comprised 97/476 (20%) cases. CONCLUSION: Gene panel testing provides significant additional yield over current level 1 investigations which include GJB2 testing only. This has far-reaching implications for how we optimize investigations into HL in children and counsel families, and for future early interventions.

Paediatric velopharyngeal insufficiency following adenotonsillar surgery.

OBJECTIVE: Paediatric velopharyngeal insufficiency (VPI) is a known but rare complication following adenotonsillar surgery that can have significant adverse effects on the communication as well as psychological well-being of the patient and their family. We sought to assess risk factors, aetiology, assessment and management of these patients through a dedicated multidisciplinary clinic. METHODS: Retrospective data collection was performed for patients seen in the Great Ormond Street Hospital for Children multidisciplinary VPI clinic from the 1st of January 2015 until 30th of April 2020. Paediatric patients with previous adenotonsillar surgery and no evidence of cleft palate or speech and language disorder were included in the study. RESULTS: 29 patients met the inclusion criteria, with 16 having previous adenotonsillectomy and 13 isolated adenoidectomy. In our VPI clinic, patients were seen on average for 4.9 occasions over a 38.3-month period. Clinical assessment was conducted using GOS.SP.ASS '98 speech assessment tool, speech videofluoroscopy and nasoendoscopy, as per individual needs. The main cause of post-adenoidectomy VPI was identified in 72.5% of the cases. Speech videofluoroscopy was performed in 27 cases. Associated anatomic features identified included deep pharynx (37%), long palate (22.2%) and variable levator position. Severe hypernasality was noted in 3 patients, while in 20 cases moderate or mild hypernasality was found. There were no patients with normal speech. Ten patients were treated with speech therapy alone, whereas surgical intervention was required in seventeen cases. In the population who received treatment and had adequately recorded follow-up, improvement in speech was noted in 86.9%, with 30.4% having oral resonance on last review. Of the patients with severe hypernasality, all improved but had some persistent hyper nasality on last clinic review. CONCLUSIONS: We present our multidisciplinary management of post adenoidectomy VPI. Through the investigations in our dedicated specialist VPI clinic, the cause of VPI was found more frequently than in previous reports in the literature. Intense treatment is usually required with lengthy follow-up and multiple attendances in VPI clinic. Main modalities of management include SLT, surgery and speech prostheses. Most patients' speech will improve with intervention. We highlight the importance of early recognition, referral and a multi-disciplinary approach in treating this condition. We advise ENT surgeons to ensure patients are adequately aware of this complication given its potential impact.

Practical insights for paediatric otolaryngology surgical cases and performing microlaryngobronchoscopy during the COVID-19 pandemic.

Paediatric otolaryngology practice involves examining and operating in anatomical locations with high levels of aerosol generation and transmission of COVID-19 to treating clinicians, especially from the asymptomatic patient populations including children. During the COVID-19 pandemic all emergent otolaryngological conditions affecting the airway, oral, and nasal cavities should be managed medically where possible and any operating deferred. We present guidelines for operating on paediatric otolaryngological patients when necessary during the COVID-19 pandemic, and incorporate experience gathered during microlaryngobronchoscopy on a COVID-19 positive infant at our institution.

Surgical and therapeutic advances in the management of voice problems in children and young people.

PURPOSE OF REVIEW: The current article reviews advances in both the assessment of paediatric voice disorders, as well as surgical, medical and therapeutic treatments. RECENT FINDINGS: It is important to evaluate the impact of a voice disorder from both the parent and child perspective. Outpatient laryngoscopy with stroboscopy is very possible even in young children; however, high-speed ultrasound is a plausible alternative. High-speed videolaryngoscopy, videokymography and dynamic computed tomography, offer potential for augmenting the assessment of vocal fold vibratory characteristics in children. The evidence to support the efficacy of both indirect and direct voice therapy interventions is growing. The management of vocal fold palsy has advanced to include laryngeal reinnervation. Intubation injury with/without surgical intervention offers challenge and gives rise to voice disorders that may be lifelong. SUMMARY: Although assessment and management practices of paediatric voice disorders closely follow those applied to adults, there are important differences and a developmental approach is required when considering both surgical and therapeutic management. Children can benefit from both indirect and direct therapy treatments following an ear, nose and throat assessment which utilizes paediatric instrumentation and considers the health of the entire airway. Underlying medical contributory factors should be explored and treated. Voice disorders due to congenital and acquired changes of the vocal tract may be amenable to surgery.

Cochlear re-implant rates in children: 20 years experience in a quaternary paediatric cochlear implant centre.

The aim of this study is to determine the incidence and causes for cochlear explantation/re-implantation in children as a retrospective case review in a Quaternary paediatric Cochlear Implant (CI) Centre. The subjects included in the study were Paediatric CI patients requiring cochlear explantation/re-implantation. Outcome measurements were incidence and aetiology of device explantation/re-implantation. Patient age at implantation, aetiology of deafness, CI manufacturer, and timing of explantation/re P implantation were the independent variables. 778 paediatric cochlear implants were performed in 653 children between 1992 and January 2013. There were a total of 40 (5.1%) failed implants in 38 patients. The most common reason for explantation was device failure in 22 (2.8%). Risk factors for device failure were known manufacturing defect/device recall. Medical/surgical issues accounted for 18 (2.3%) implant failures. The mean time to explantation was 3 years 10 months. The incidence of explantation/re-implantation in our paediatric cochlear implant population is comparable to other published studies. The most common reason for explantation was device failure, however, the aetiology of deafness, in particular meningitis, does not appear to increase the risk of explantation as described in previous series.

Stem-cell-based, tissue engineered tracheal replacement in a child: a 2-year follow-up study.

BACKGROUND: Stem-cell-based, tissue engineered transplants might offer new therapeutic options for patients, including children, with failing organs. The reported replacement of an adult airway using stem cells on a biological scaffold with good results at 6 months supports this view. We describe the case of a child who received a stem-cell-based tracheal replacement and report findings after 2 years of follow-up. METHODS: A 12-year-old boy was born with long-segment congenital tracheal stenosis and pulmonary sling. His airway had been maintained by metal stents, but, after failure, a cadaveric donor tracheal scaffold was decellularised. After a short course of granulocyte colony stimulating factor, bone marrow mesenchymal stem cells were retrieved preoperatively and seeded onto the scaffold, with patches of autologous epithelium. Topical human recombinant erythropoietin was applied to encourage angiogenesis, and transforming growth factor ß to support chondrogenesis. Intravenous human recombinant erythropoietin was continued postoperatively. Outcomes were survival, morbidity, endoscopic appearance, cytology and proteomics of brushings, and peripheral blood counts. FINDINGS: The graft revascularised within 1 week after surgery. A strong neutrophil response was noted locally for the first 8 weeks after surgery, which generated luminal DNA neutrophil extracellular traps. Cytological evidence of restoration of the epithelium was not evident until 1 year. The graft did not have biomechanical strength focally until 18 months, but the patient has not needed any medical intervention since then. 18 months after surgery, he had a normal chest CT scan and ventilation-perfusion scan and had grown 11 cm in height since the operation. At 2 years follow-up, he had a functional airway and had returned to school. INTERPRETATION: Follow-up of the first paediatric, stem-cell-based, tissue-engineered transplant shows potential for this technology but also highlights the need for further research. FUNDING: Great Ormond Street Hospital NHS Trust, The Royal Free Hampstead NHS Trust, University College Hospital NHS Foundation Trust, and Region of Tuscany.

Simultaneous cochlear implantation in children: the Great Ormond Street experience.

OBJECTIVES: To analyse the surgical aspects and safety of bilateral simultaneous cochlear implantation in children. METHODS: A retrospective case series at a tertiary paediatric centre in the United Kingdom. Surgical times, analgesia and antiemetic use, and complications were analysed for the first 25 bilateral simultaneous cochlear implants performed at Great Ormond Street Hospital for Children between September 2007 and December 2009. These were compared with a consecutive group of sequentially implanted children whose second implant was performed during the same period. RESULTS: Total time for simultaneous implantation was significantly less than the cumulative time required for sequential implantation (P < 0.05). In addition, the number of paracetamol, non-steroidal anti-inflammatory, and antiemetic doses was significantly less for simultaneous implantation than for sequential implantation (P < 0.001). Furthermore, the number of doses of analgesia and antiemetic required for simultaneous implantation were no higher than for single-side surgery (P > 0.05). No difference in complication rates was seen between the groups. DISCUSSION: Bilateral simultaneous cochlear implantation in children is safe and results in a reduction in total theatre time when compared with the cumulative time required for sequential implantation. Simultaneous implantation also reduces total analgesia and antiemetic requirements and length of stay to levels comparable with single-side implantation.

Multimodality treatment of pediatric lymphatic malformations of the head and neck using surgery and sclerotherapy.

OBJECTIVES: To describe a multimodality approach to the management of pediatric head and neck lymphatic malformations using surgery, sclerotherapy, or both and to review the outcomes of these approaches. DESIGN: Retrospective case series. SETTING: A single pediatric tertiary care referral center. PATIENTS: Ninety-seven pediatric patients (aged 1 month to 16 years) diagnosed as having lymphatic malformations of the head and neck during a 7-year period. Follow-up ranged from 3 months to 7 years. INTERVENTIONS: All of the patients underwent clinical and radiologic (magnetic resonance imaging) assessment. Treatment modality was selected according to disease location, cyst size, and parental preference. Treatments included surgery (open excision, tongue reduction, electrocautery, and laser treatment), sclerotherapy with OK-432 (Picibanil) or a fibrosing agent (Ethibloc), and a combination of modalities. MAIN OUTCOME MEASURES: Clinically determined responses to treatment, complications, and number of treatments required. RESULTS: All isolated neck disease had complete or near-complete responses, with no nerve palsies sustained. Although most patients achieved complete or near-complete responses, disease with parotid, laryngopharyngeal, or oral components had poorer outcomes and frequently required multiple treatments. Significant long-term neural injury was sustained in 3 of 6 surgical patients for mediastinal disease and in only 4% (n = 4) of other surgical procedures. CONCLUSIONS: Surgery retains an important role in the treatment of pediatric head and neck lymphatic malformations despite the advent of sclerotherapy. Isolated neck disease has an excellent outcome with either modality. Treatment decisions were made via a problem-based approach and were individualized according to anatomical location and disease classification.

Partial adenoidectomy by suction diathermy in children with cleft palate, to avoid velopharyngeal insufficiency.

OBJECTIVES: Adenoidectomy is indicated for the relief of paediatric nasal obstruction, sleep-disordered breathing and otitis media with effusion (OME). Velopharyngeal insufficiency (VPI) is a rare complication. The main risk factor is the presence of pre-existing velopharyngeal closure-impaired mechanisms, including submucosal or overt cleft palate. Despite possible benefits, adenoidectomy is frequently withheld in such children to avoid VPI. This study aims to demonstrate the efficacy and safety of partial adenoidectomy using suction diathermy in children who previously underwent overt cleft palate repair during infancy, to allow selective resection of tissue and symptom resolution without producing VPI. METHODS: Since 1994, 18 patients with previously corrected overt cleft palate have undergone partial adenoidectomy at this centre, for the treatment of nasal obstruction or sleep-disordered breathing, with or without OME. Three had existing VPI following their cleft correction surgery. Selective resection of the adenoid was performed transorally under indirect vision, using a malleable suction coagulator. This allowed exposure of the posterior choanae, leaving the remaining adenoid bulk intact. RESULTS: Patients were followed up at 4 weeks, and subsequently at regular intervals (total follow up 30-180 months, median 92 months), including perceptual speech assessment in all cases. All demonstrated symptomatic improvement with respect to the original indications for surgery. None developed worsening hypernasal speech or other features of VPI, and there were no cases of symptomatic adenoidal re-growth. CONCLUSIONS: Partial adenoidectomy, employing a variety of methods, has been used successfully in children with submucosal cleft palate. This study demonstrates the safe and effective use of suction diathermy to enable partial adenoidectomy in children who have previously undergone surgical correction of overt cleft palate, allowing symptom resolution without producing VPI.

Refractory choanal atresia: what makes a child susceptible? The great Ormond Street Hospital experience.

OBJECTIVE: An outcome analysis of factors that predispose patients to require multiple surgical procedures for choanal atresia repair. DESIGN: Retrospective case note review of choanal atresia patients identified from a prospectively collected database at Great Ormond Street Hospital for Children, London, between 1992 and 2005. SETTING: Specialist centre in pediatric otolaryngology. METHODS: All patients underwent atresia correction by a transnasal approach under endoscopic guidance using a 120 degrees Hopkins rod telescope to visualize the posterior choanae from the nasopharynx. The atretic plate was first perforated using urethral sounds. The posterior choanal opening was subsequently enlarged using the microdebrider drill. Portex endotracheal tubes were used as stents in selected cases. RESULTS: Twenty children (9 male, 11 female) were identified who underwent multiple surgical procedures for restenosis following choanal atresia repair during the study period. The number of procedures per patient ranged from 6 to 42. Approximately half of the patients had other associated major anomalies. CONCLUSIONS: Following primary endoscopic transnasal repair, 9.8% of the patients were considered to have refractory choanal atresia, requiring six or more surgical procedures. Male gender, bilateral disease, associated congenital anomalies, low birth weight, and small stent size are potential risk factors for restenosis of choanal atresia. There was no obvious relationship between the duration of stent placement and restenosis.

Excision of nasal dermoids with intracranial extension - anterior small window craniotomy approach.

OBJECTIVE: Dermoid cysts are the most common midline congenital nasal masses and may extend intracranially. They commonly become infected, may distort nasal growth, and are cosmetically unacceptable. The treatment of nasal dermoids is complete surgical excision. Removal of any intracranial extension traditionally required a bicoronal incision and frontal craniotomy, with significant associated morbidity. This retrospective study describes a new minimally invasive approach for excision of the intracranial component of the dermoid. METHODS: We present three cases where a brow incision was used. The intracranial part was removed by cutting a small window in the frontal bone directly over the dermoid, minimizing complications of formal craniotomy. RESULTS: Good access allowing complete excision of the dermoid and very low morbidity was achieved in all patients. The dura was breached in one patient at operation but this was easily repaired with a periosteal patch. All patients recovered quickly and hospital stay was short. The resultant scar was cosmetically acceptable. CONCLUSION: The use of a brow incision and small window craniotomy is a successful low morbidity technique for excision of nasal dermoids with intracranial extension.

Surgical aspects of tracheostomy in children.

Tracheostomy involves the surgical formation of a stoma between the trachea and the skin. It is classically thought of as a treatment to alleviate airway obstruction; however, its clinical applications are varied and include long-term ventilatory support, being an aid in pulmonary toilet and use as a covering procedure during airway surgery. In this article, we review the surgical aspects of tracheostomy, including preoperative considerations, tracheostomy tube choice, operative technique and postoperative complications. Postoperative care of the child with a tracheostomy will also be discussed.

Tracheal cartilaginous sleeve with cricoid cartilage involvement in Pfeiffer syndrome.

Pfeiffer syndrome is one of a group of craniosynostosis syndromes in which rare tracheal anomalies have been described. This group of patients have a poor prognosis, and mortality can be related to airway complications and respiratory distress. We report a case of type II Pfeiffer syndrome with tracheal cartilaginous sleeve and cricoid cartilage involvement. We discuss our strategy for the management of the airway of this patient.

Langerhans' cell histiocytosis in the paediatric population: presentation and treatment of head and neck manifestations.

Langerhans' cell histiocytosis (LCH) is a rare paediatric disease of unknown etiology affecting 1 to 5 children per 1 million each year. It is characterized by the idiopathic proliferation of Langerhans' cells. The clinical spectrum of disease is quite varied, ranging from a solitary eosinophilic granuloma to diffuse multisystem involvement. The head and neck is the most common site of involvement, occurring in approximately 60% of LCH patients. Head and neck manifestations are diverse and include skull and temporal bone lesions, cervical lymphadenopathy, and skin rash. Diagnosis can be difficult as these lesions mimic other common conditions seen by the otolaryngologist, including otitis externa, acute mastoiditis, and gingivitis. A retrospective study was carried out to study our centre's experience with LCH over the last 10 years. Twenty-one patients were diagnosed between January 1990 and December 1999. Patient's age at time of diagnosis ranged from 6 days to 14 years. Fifty-seven percent of patients had localized bony lesions; the remaining 43% had diffuse multisystem disease. The head and neck was also the most commonly involved site in our study, affecting 67% of our patients. Presentation and diagnosis of these lesions are discussed in detail. Treatment, complications, and patient outcomes will also be discussed.