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BACKGROUND Five children from two consanguineous families presented with epilepsy beginning in infancy and severe ataxia, moderate sensorineural deafness, and a renal salt-losing tubulopathy with normotensive hypokalemic metabolic alkalosis. We investigated the genetic basis of this autosomal recessive disease, which we call the EAST syndrome (the presence(More)
OBJECTIVE Auditory processing disorder (APD) is characterised by listening difficulties despite a normal audiogram. APD is becoming ever more widely diagnosed in children, though there is a controversy over definition, diagnosis and aetiology. This study sought to describe presenting features and investigate aetiological factors for children diagnosed with(More)
Children with listening difficulties, but normal audiometry, may be diagnosed with APD. The diagnosis is typically based on poor performance on tests of perception of both non-speech and speech stimuli. However, non-speech test results correlate only weakly with evaluations of speech-in-noise processing, cognitive skills, and caregiver evaluations of(More)
OBJECTIVE To identify the clinical and radiologic characteristics of aplasia and hypoplasia of the eighth nerve. STUDY DESIGN Retrospective case-note review. SETTING Cochlear implant program. PATIENTS All children at the authors' institution in whom the cochlear implant assessment failed because of absence or hypoplasia of the eighth nerve. (More)
OBJECTIVE Mutations in Gap Junction Beta 2 (GJB2) (the gene encoding the protein Connexin 26) have been found to be a major cause of non-syndromic sensorineural recessive deafness. The mutations in GJB2 causing hearing impairment vary in different populations. The aim of this study was to determine the prevalence and spectrum of GJB2 mutations in prelingual(More)
Exogenous enzyme replacement therapy achieves satisfactory biomedical correction in Gaucher type 1 disease and may halt or reverse neurological progression in type 3, while it does not appear to influence the outcome in type 2. In view of the therapeutic possibilities, early detection and monitoring of type 3 Gaucher disease, as well as evaluation of the(More)
Chondrodysplasia punctata is a term referring to a clinically heterogeneous group of bone and cartilage dysplasias which cause characteristic epiphyseal stippling. The condition can involve the ear, nose and throat in diverse ways at many levels. We present a case of X-linked brachytelephalangic chondrodysplasia punctata, which illustrates the features of(More)
Gaucher disease (GD) is a lysosomal disorder involving the accumulation of glucocerebroside in the liver, spleen, bones and brain. Some patients exhibit only systemic disease (type I), but others have additional neurological signs which may lead to rapid neurodegeneration in infancy (type II) or take a more intermediate course (type III). Types II and III(More)
Apert syndrome is one of the craniosynostosis syndromes and is commonly associated with conductive hearing loss, but there are contradicting reports regarding the cause. Retrospective analysis of case notes of Apert syndrome patients seen between 1970 and 2003 was therefore undertaken. Seventy case notes were obtained; 59% were males. The incidence of(More)
OBJECTIVES The objective of this study was to identify factors correlated with the CT outcome and to examine the contribution of the CT scan in the aetiological diagnosis and management of unilateral sensorineural hearing loss in childhood. METHODS The records of 35 consecutively investigated patients by the Audiology Department of Great Ormond Street(More)