Cochlear implants in children with craniofacial syndromes: assessment and outcomes.

The aim of this retrospective study was to review the outcomes for children with craniofacial syndromes who had received a cochlear implant. The group comprised four children (three girls, one boy) aged between 3.3 and 10.1 years (mean 6.3 years) at time of implantation with the Cochlear CI-22M device. Two children had the CHARGE association. one had Goldenhar's syndrome and one had brachio-oculo-facial syndrome. All had full electrode insertion at time of surgery. At follow-up, three of the children demonstrated benefit in detection, recognition and identification of environmental sounds, and they continued to gain receptive spoken language skills, although none had intelligible speech. The group required careful mapping and higher levels of electrical stimulation of the implant compared to normal child implantees. Stimulation of the facial nerve was a problem with one child. The pre-implantation assessment of these children requires extensive interdisciplinary discussion and careful radiological investigation. Cases should be carefully selected. Parents should receive realistic counselling about outcomes and the time commitment necessary, as habilitation of these children can take twice as long as that of children without additional special needs. Post-implantation, these children continue to require well-coordinated medical and interdisciplinary management.

Haplotype analysis of the USH1D locus and genotype-phenotype correlations.

Usher syndrome (USH) is characterised by hearing impairment and progressive pigmentary retinopathy. USH can be divided into three subtypes based on the severity and progression of the major clinical findings. These subtypes are genetically heterogeneous, with at least six loci for USH1, three for USH2 and one for USH3. In the present study, five unrelated consanguineous families with USH1 were analysed for linkage to markers flanking the six USH1 loci. Two of these families, one Pakistani and one Turkish, demonstrated linkage to the USH1D locus. In another family, haplotype segregation was consistent with linkage to USH1C. The remaining families were not linked to any of the six USH1 loci, providing support for the existence of at least one additional USH1 locus. Analysis of these two new USH1D families allowed us to narrow the USH1D candidate region to a 7.3-cM interval with a telomeric flanking marker at D10S1752. Comparison of the affected haplotypes in our Pakistani family with the original Pakistani USH1D family yielded no evidence for a founder effect. The identification of two additional affected families suggests that the USH1D may be a more common form of USH1 than originally suspected. The USH1D (CDH23) gene has recently been cloned. Mutation analysis has shown two different CDH23 mutations in the two Pakistani USH1D families studied, which confirmed our finding that there was no evidence for a founder effect by haplotype analysis. The interesting correlations between genotype and phenotype in CDH23 are also summarised.

A study of the application of a frequency transposition hearing system in children.

The aim of this retrospective study was to investigate the use of the frequency transposition Transonic FT 40 system in a group of 36 children with profound sensorineural hearing loss. The group comprised 36 children (11 boys, 25 girls) aged between 2.8 and 15.6 years (mean 7.6 years) at fitting of the FT 40 device. At 48 months post-FT 40 fitting, only 11 children (30%) were still wearing the device. The children discontinued wearing the FT 40 for the following reasons: ergonomic (11%); no perceived benefit from the system (11%); cosmetic (17%); and subsequent cochlear implantation (30%). The performance of the long-term FT 40 users was investigated using the following outcome measures: aided soundfield hearing thresholds: closed set speech tests (the E2L toy test and the Manchester Picture Test discrimination test) and a speech intelligibility rating score. The 11 long-term FT 40 users (three boys, eight girls) were aged from 5.3 to 12.9 years (mean 7.2 years) at the time of initial fitting of the FT 40 device. At time of fitting, the aided soundfield thresholds with the FT 40 were significantly better at 500 Hz (p<0.04), 1 kHz (p<0.019), 2 kHz (p<0.001) and 4 kHz (p <0.001) compared to thresholds with conventional hearing aids. Six of 11 children did not show any change in performance on the closed set speech tests and two children had intelligible speech at 48 months' follow-up. A small subgroup of good performers was identified. These children were younger at age of fitting (mean 6.2 years compared to a mean of 7.7 years for the remainder of the group), were predominantly oral communicators and had identified aetiologies for their deafness. The present study suggests that there is a small subgroup of hearing-impaired children who benefit from frequency transposition hearing systems, and future suggested fitting criteria and outcome measures are listed.

Parental experiences of a paediatric cochlear implant programme.

Although cochlear implantation is a well-established procedure in profoundly deaf children, very little research has investigated whether parents are satisfied with the treatment (including assessment, surgery and rehabilitation) or its outcome, and whether it has met their expectations. In this study, 44 parents of children who had received cochlear implants completed a confidential postal questionnaire. Results indicated that the majority of parents felt that the information they and their child received was both sufficient and appropriate. Many parents experienced more distress than they anticipated, but perceived their child as having experienced less physical discomfort than expected. Some suggestions for improving the service were made, but in general it was felt that little more could be done to inform our 'consumers', or to reduce levels of stress.

Randomised comparative monotherapy trial of phenobarbitone, phenytoin, carbamazepine, or sodium valproate for newly diagnosed childhood epilepsy.

BACKGROUND: The medical treatment of childhood epilepsy is largely influenced by clinical trials in adult patients. We know of only one randomised comparative trial (of two drugs) in newly diagnosed childhood epilepsy. We have undertaken a long-term, prospective, randomised, unmasked, pragmatic trial of the comparative efficacy and toxicity of four standard antiepileptic drugs used as monotherapy in children with newly diagnosed epilepsy. METHODS: Between 1981 and 1987, 167 children aged 3-16 years, who had had at least two previously untreated tonic-clonic or partial seizures, with or without secondary generalisation, were randomly allocated treatment with phenobarbitone, phenytoin, carbamazepine, or sodium valproate. The protocol was designed to conform to standard clinical practice. Efficacy was assessed by time to first seizure after the start of treatment and time to achieving 1-year remission. FINDINGS: The overall outcome with all four drugs was good. 20% of children remained free of seizures and 73% had achieved 1-year remission by 3 years of follow-up. We found no significant differences between the drugs for either measure of efficacy at 1, 2, or 3 years of follow-up. The overall frequency of unacceptable side-effects necessitating withdrawal of the randomised drug was 9%. This total included six of the first ten children assigned phenobarbitone; no further children were allocated this drug. Of the other three drugs, phenytoin (9%) was more likely to be withdrawn than carbamazepine (4%) or sodium valproate (4%). INTERPRETATION Our data will inform choice of drug and outcome with four of the standard drugs available for newly diagnosed tonic-clonic or partial seizures with or without secondary generalisation in children.

Meningococcal infection: evidence for school transmission.

Intimate contacts of a patient with meningococcal disease are at greater risk of disease than the general population and are offered chemoprophylaxis in order to prevent secondary cases. School contact is not considered a risk factor unless a further case develops. Bacteriological sampling of contacts to identify potential sources of infection is not considered warranted. We have questioned these approaches and investigated the contacts of a 9-year-old child with meningitis caused by sulphonamide-sensitive Neisseria meningitidis group C. Household carriers were not identified but 7/34 classmates were carrying the index strain suggesting that transmission was occurring within this population. The current recommendations for prophylaxis are based on information gathered in socioepidemiological settings, and involving strains which differ from those now prevalent. Such extrapolations may not be justified and further microbiological studies seem warranted to re-examine meningococcal transmission and prophylaxis usage in school children.

Anticonvulsant drugs, growth, and development.

Height and stage of puberty of 67 children with epilepsy were measured before beginning treatment with anticonvulsant drugs and annually to a maximum five years' treatment. Blood concentrations of the drugs used (phenytoin, sodium valproate, carbamazepine, ethosuximide, and phenobarbitone) were monitored throughout. No significant deviation in growth patterns was detected.