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Cholera vaccines developed by the deletion of CTX genes from Vibrio cholerae induce a residual reactogenicity in up to 10% of vaccinees. A novel cytotonic agent named secreted CHO cell elongating protein (S-CEP) was purified from culture supernatants of CVD 103-HgR (Levine et al., Lancet ii:467-470, 1988). Five fractionation steps yielded electrophoretically pure S-CEP with an M(r) of 79,000. A partially purified preparation caused fluid accumulation in the sealed infant mouse model. The amino terminus bore a unique sequence with strong homology to a cytotonic toxin of El Tor V. cholerae.

AimThe UN convention on rights of children advocates the rights of disabled children, including those with hearing impairment. Furthermore, UK national guidelines recommend cochlear implants (CI) in newborns with severe-to-profound sensorineural deafness as early as possible, thereby enabling children to overcome barriers and integrate better with the society.The aim is to explore the ethical dilemma underpinning parental refusal for CI.MethodThis is a retrospective case study and discussion on ethical issues arising.ResultsA first-born baby boy presented with congenital bilateral severe-to-profound sensorineural deafness identified through newborn hearing screening. His non-consanguineous Asian parents had normal hearing. He was given powerful bilateral digital hearing aids and was well-supported by multi-agency community services. Despite this early auditory habilitation, subsequent aided hearing levels remained inadequate for speech perception. Hence, he was referred for CI assessment and consequently deemed suitable. There were no otological, audiological, medical or anaesthetic contraindications. Parents had counselling and discussions on CI rehabilitation. They were aware of the critical window of brain plasticity for auditory and speech development and understood the benefits versus risks. There were no safeguarding concerns. Despite the extensive multi-professional input and support, parents declined consent for CI. At 2 years, the child’s verbal communication remained significantly impaired. The child is now 3 years and continues to use digital hearing aids and communicates by British Sign Language (BSL). Parents were slow to accept and use BSL.ConclusionThis case highlights the ethical dilemma faced by professionals when parents refuse the provision of a well-accepted form of communication rehabilitation. The multi-professional team has provided all possible opportunities for parents to make their choice. However, it is the parents’ autonomy to refuse treatment. Although this is a non-life threatening scenario, CI rehabilitation enables life-changing outcomes if implanted in the first 2– 3 years in children with pre-lingual deafness. The dilemma arises when parental choice contradicts professional advice. Amidst this dilemma, a key factor would be the child’s own views, limited at this young age, on such a life changing intervention. Therefore, to clarify and guide our practice, we have seeked further legal and professional advice.

AimThere is a growing interest in paediatric vestibular disorders but dedicated services are not widely available in UK. Children may present with otological, neurological, psychological, neurodevelopmental and other aetiologies. The aim of this study is to demonstrate this variation in the clinical presentation and corresponding diagnostics.MethodThis is a retrospective service evaluation of the first 2 years (November 2014 to October 2016) of a dedicated paediatric vestibular service. Only a limited number of older children who completed vestibular diagnostics were included. This is due to numerous limitations in service delivery.Children are initially assessed clinically along with auditory tests. Selected children subsequently undergo Video-Nystagmography (VNG) and Caloric tests, carried out on a monthly basis. There is access to other medical investigations and multi-professional rehabilitation services.ResultsDuring the 24 months, 18 children (11 boys and 7 girls) completed clinical and diagnostic vestibular assessments. They ranged from 8 to 16 years (median age=13.5 years).Referrals came from Paediatrics (10), Occupational Therapy (3), ENT (2), GP (1), Physiotherapy (1) and a Community Children’s Nurse (1). They had medical, neurological, neuro-developmental, otological, ophthalmological and psychological backgrounds.Audiologically, 14 children had normal hearing. Two had newly-diagnosed sensorineural hearing loss (SNHL), one had progressive SNHL and one had congenital profound SNHL (unilateral cochlear-implant user).Fourteen children had normal clinical vestibular examination. Abnormalities included ocular-motor dysfunction (2), significant central neurological signs (1) and abnormal Unterberger’s test (1).VNG was normal in 15 children. Two had abnormal nystagmus without visual fixation and one had significant central neurological features.Caloric test was normal in 10 children. Seven had unilateral Canal Paresis ranging from 24%–41%, indicating peripheral vestibular dysfunction (PVD). One had bilateral absent responses.The final impression of aetiology was multi-factorial (4), migraine-related (3), neuro-developmental (3), psychogenic (2), normal (2), PVD only (1), Pendred syndrome (1), encephalomyelitis (1) and labyrinthitis along with psychogenic overlay (1).ConclusionVestibular presentations in children are heterogeneous. Therefore, clinicians should be aware and explore the multifaceted reasons, over and beyond otological causes, in children.We are currently working around the service delivery limitations and are networking with stakeholder colleagues.

AimGenetic causes are thought to be responsible for approximately 50%–60% of cases of hearing impairment. Our aim is to demonstrate the complexity of phenotype-genotype presentations in a family with sensorineural deafness.MethodThis is a retrospective case study of a family including family history, audiometry, radiology and genetic investigations.ResultsA 5 year old girl moved into the local area with progressive bilateral sensorineural deafness, initially identified through newborn hearing screening. She wears bilateral digital hearing aids with excellent aided hearing thresholds. Neuroimaging revealed evidence of bilateral widened vestibular aqueducts, with decreased cochlear partitioning. Genetic studies showed homozygous SLC26A4 mutations, confirming Pendred syndrome. Parents were non-consanguineous but both were carriers for the mutation and this confirmed the expected autosomal recessive inheritance. The child was clinically and biochemically euthyroid. Urinalysis and Ophthalmology were normal. Newborn blood spot for congenital CMV was negative. Additionally, she had a heterozygous mutation in the Connexin 26 gene (c.71G>A). The clinical significance of this is yet unknown. The maternal aunt was reported to be a sign language user due to congenital deafness from an unknown cause. Due to the genetic aetiology, family audiometry was undertaken. Both parents, in their early 40’s with no noise exposure, unexpectedly had bilateral mild sensorineural hearing loss, predominantly affecting the high-frequencies. This is not explained by the parental Pendred carrier status. Further complicating the family aetiology, mother had strong evidence of 3+ microscopic haematuria. Alport syndrome was suspected but the specific genes (COL4A3, COL4A4 and COL4A5) did not show mutations. Hence, the cause of her mother’s deafness and its relationship to the child is yet unknown. Her father has normal urinalysis. Her 10-year-old sister has normal audiometry and urinalysis.DiscussionA seemingly obvious cause of sensorineural deafness in a child may not always explain the aetiology in a family. It is therefore important to keep an open-mind and investigate family members, which will have implications for the future. In the UK, national initiatives such as the 1 00 000 Genomic Project may shed more light in the future on complex situations like this.