You searched for "Congenital"

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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...

Identifying congenital CMV: the screening debate

Congenital cytomegalovirus (cCMV) is a significant global public health burden and is the biggest non-genetic cause of childhood hearing loss, as well as being an important cause of neurodevelopmental delay. Despite a study concluding that there was not enough evidence...

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...

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...

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...

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]....

Cochlear implantation in children with congenital single-sided deafness

To date, there has been very limited data supporting the effectiveness of early provision of a cochlear implant to the deaf ear in infants with congenital single-sided deafness. In this article, the authors share their pioneering work with this special...

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....

Early detection pathways for congenital cytomegalovirus for infants referred from the newborn hearing screen

This article discusses requirements for an early congenital cytomegalovirus (cCMV) detection pathway to ensure children do not miss out on the opportunity for timely diagnosis and treatment. The pathways described are currently in use in England and apply to well...

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....