You searched for "Congenital"

267 results found

Genetic testing in congenital hearing loss

Advances in genetic testing over the last decade have reduced the cost and time such testing required and increased understanding of the genes involved in conditions like congenital hearing loss. This study from Atlanta looks at genetic testing from a...

Congenital cytomegalovirus causing deafness in children: an update

Congenital CMV is the leading non-genetic cause of sensorineural hearing loss in children. Keith Trimble draws our attention to this and gives a comprehensive guide on diagnosis and treatment. Congenital cytomegalovirus (cCMV) infection is common, affecting 1% of all newborns,...

Congenital CMV: investigations and management in the audiology setting

Congenital cytomegalovirus (cCMV) is the only cause of congenital sensorineural hearing loss (SNHL) for which there is a medical treatment available to prevent further hearing loss. Dr Simone Walter discusses cCMV infection, cCMV-related hearing loss, and how to facilitate their...

Cochlear implantation in children with congenital long QT syndrome

Jervell and Lange-Neilsen syndrome is a condition where sensorineural deafness coincides with inherited abnormalities of the heart, resulting in prolonged ventricular repolarisation, frequently shown on an ECG with a prolonged QT interval. These children can present at implant centres for...

Identification of congenital hearing loss in Saudi Arabia

It has long been recognised that timely recognition of congenital hearing loss allows for the morbidity of hearing loss to be minimised. Due to the difficulties with identifying hearing loss in babies, combined with readily available screening technologies, many countries...

Surgical management of congenital nasal pyriform aperture stenosis

Introduction Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of neonatal upper airway obstruction which was first described by Douglas in 1952 [1]. The first radiological description of CNPAS was described by Ey et al in 1988 [2]....

Assessment of genetic disorders: congenital sensorineural hearing loss

Severe or profound sensorineural hearing impairment (SNHI) is a common birth defect, affecting approximately 1 in 1000 newborns [1]. SNHI may result from environmental causes or have a genetic basis. The genetic causes can be further subdivided into non-syndromic (isolated...

Targeted CMV screening and hearing management of children with congenital cytomegalovirus infection

Congenital cytomegalovirus (cCMV) infection is a common congenital infection and is the leading infectious cause of sensorineural hearing loss (SNHL) in children. Prof Karen Fowler discusses current research and the exciting future of screening for cCMV in newborns. Figure 1....

Radiology and paediatric neck lumps

This is a comprehensive article examining the modalities available for children presenting with suspected congenital neck lumps. Each modality is explained in turn, with pros and cons highlighted, but also in the context of the emergency patient and the elective....

Plasticity with cochlear implants: individual factors in the outcomes

Andrej Kral gives us an overview of neuronal plasticity in congenital hearing loss, and discusses why it is core to our clinical interventions in hearing loss and rehabilitation. The brain is born immature and undergoes extensive shaping during early development....

High definition tractography to identify cranial nerves

It has always been challenging to visualise cranial nerves on traditional imaging as the cranial nerves have a fine structure and complex anatomy. This is especially true regarding the cochlear nerve. In congenitally hearing impaired children, the visualisation of the...

Transnasal endoscopic choanal atresia surgery

Surgery is currently the only definitive treatment for congenital choanal atresia (CCA). There are various surgical approaches including transnasal, transeptal or transpalatal. The authors propose that the preferred option is transnasal endoscopic choanal atresia surgery (TECAS) and set out to...