Current Research Themes

CURRENT RESEARCH THEMES

We are extremely keen to receive input from family and patient groups to help lead research themes so that from the very early stages of planning our research is designed to be as relevant to the local population and as practical as possible. If you would like to contribute your ideas please visit our Get Involved section or Contact us. For more information on our current research themes please click on the tabs below:

Excitation-Inhibition Imbalance/seizures

Bumetanide Trial:

Colchester General Hospital, ESNEFT, is one of the sites chosen to complete a double blinded Phase 3 randomised controlled trial on administration of Bumetanide to improve core Autism Spectrum Disorder (ASD) symptoms in children aged 2 to less than 7 years. Recruitment started in February 2020. The project is sponsored by Servier.
Bumetanide is a type of diuretic known as a loop diuretic, originally formulated to treat fluid retention. It has also been shown to alter the excitation-inhibition (E-I) balance at nerve endings called synapses. Signals are transmitted across synapses from one nerve to another by chemicals called neurotranmitters. Under normal circumstances the neurotransmitter Gamma aminobutyric acid (GABA) inhibits certain brain signals and decreases activity in the nervous system, thus having a calming effect. It has been proposed an increase in the ratio of excitatory to inhibitory neuronal activity may be responsible for some of the core symptoms of ASD. Bumetanide has been shown to potentiate the effects of GABA and may therefore stabilise the excitation-inhibition imbalance and reduce the severity of ASD core symptoms.

For more information on this trial please visit Servier’s clinical trials page: https://clinicaltrials.servier.com/trial/efficacy-and-safety-of-bumetanide-oral-liquid-formulation-in-children-aged-from-2-to-less-than-7-years-old-with-autism-spectrum-disorder/

Behavioural interventions

Pre-school Autism Communication Training (PACT):

A PACT service evaluation feasibility study is currently underway at Colchester General Hospital, ESNEFT, to evaluate the practicalities of rolling this form of therapy out and involving all families within the East Suffolk North Essex Trust. A £5000 charity donation was secured via our own ESNEFT Trust charity enabling 8 families to be recruited over Colchester. The project started on 23/01/20 and will run for 6 months.

PACT originated through a collaborative project between The University of Manchester, University of Newcastle, Institute of Child Health London, Guys Hospital London, King’s College London, Stockport Primary Care Trust, Lewisham Primary Care Trust, Southwark Primary Care Trust and North Tyneside Primary Care Trust. It was funded by the Medical Research Council, Department of Health and National Institute of Health Research. The original randomised controlled trial ran between 2006 and 2010 and investigated the effects of a parent-mediated communication-based intervention, guided by speech and language therapists (SALTs). The premise was parents and carers coached by PACT-trained SALTs on how to enhance their communication with their child with the use of videos of parent/carer-child interactions, would improve the carer’s identification of opportunities for communication and lead to better outcomes for the child.

For more information on the PACT trial please follow this link to the PACT website: and the primary results published in The Lancet.  A summary of the findings can also be found here.

Sleep

Sleep is of paramount importance to brain development. Getting to sleep and staying asleep are both incredibly common difficulties in the field of neurodisability. For children and their families lack of sleep results in a tremendous amount of stress, medical comorbidities and impacts upon learning and general development.

Finding innovative new strategies to investigate sleep is something that many parents have expressed an interest in. The Synapse Centre, ESNEFT, will prioritise efforts to tackle both sleep latency issues and quality of sleep in the local population.

Database, Biometrics/Demographics

Knowing the local population is key to the Synapse Centre’s research initiatives.  Holding an accurate database of diagnoses and other phenotypic data such as biometrics (head size, weight), and biomarkers (blood/ urine results) will allow a more personalised approach to medicine and understanding why one therapy will not always be effective for all children under the same diagnosis.

The 'microbiome - brain axis'

Recent evidence has demonstrated the existence of a bidirectional communication between the gut microbiota (the normal microorganisms including bacteria that colonise the gut) and the central nervous system (CNS). This cross-talk between the brain and gut may be interrupted when there is dysregulation of the growth of microorganisms in the intestine. The microbiome has increasingly been shown to have an impact on the developmental programming of the brain, leading to potential consequences on brain maturation that can impact on a variety of cognitive functions.

The Synapse Centre, ESNEFT, seeks to highlight the link between microbial diversity in a variety of neurodisabling conditions in conjunction with a local microbiome centre in East Anglia.

Gastrointestinal difficulties are very common in this population group and often neglected. This can profoundly impact on behaviour, sleep and general health through poor intestinal absorption of nutrients and vitamins as well as pain.

Immune

The immune system has been shown to play a key role in the architecture of the developing brain and its dysregulation both in-utero and postnatally can have a profound effect on developmental trajectory.

This is one of the main research priorities for The Synapse Centre, ESNEFT, which seeks to better understand the complex interactions between the two systems, and research potential biomarkers and therapies.

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