Tony Sirimanna

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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)
A short-term longitudinal study was conducted to investigate possible benefits of cochlear implant (CI) use on the development of phonological awareness in deaf children. Nineteen CI users were tested on 2 occasions. Two groups of deaf children using hearing aids were tested once: 11 profoundly deaf and 10 severely deaf children. A battery of tests was(More)
Titanium osseointegrated implants for bone-anchored hearing aids (BAHAs) have been in use since 1977. A series of 32 children who received implantation since 1990 is reported. The report focuses on the surgical aspects of BAHAs, predisposing factors, and prevention of complications in an unusual pediatric population. The records of 32 children who had(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)
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)
UNLABELLED Despite known ototoxic effects of aminoglycoside (AG) antibiotics, audiological assessment is not routinely undertaken in UK CF patients. Consequently, the incidence of hearing loss is not well established. OBJECTIVE To document the incidence of hearing loss in cystic fibrosis (CF) children. DESIGN Hearing function of 45 children from Great(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)
The aim of this pilot study was to investigate whether children with a suspected auditory processing disorder (sAPD) in the presence of normal hearing, differ significantly from normal age-matched controls on particular parameters of auditory event-related potentials. We assessed nine children (mean age 9.5 years) in whom the clinical profile and the(More)
Dent disease is an X-linked tubulopathy frequently caused by mutations in the CLCN5 gene encoding the voltage-gated chloride channel and chloride/proton antiporter, ClC-5. About 15% of patients with a Dent' phenotype have mutations in the OCRL gene, which also causes Lowe oculocerebrorenal syndrome. To distinguish these patients from the more severe Lowe(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)