Synchrony 2019 – Translational Research in Autism symposia

Dec 18, 2019Autism Science and Research News

The 1st annual Brain Foundation conference – connecting researchers, donors and stake holders

Synchrony, the first of the Brain Foundation annual symposia on translational research in autism took place in Pleasanton, California on 8-10th of November. Synchrony 2019 aimed to connect autism researchers with donors, foundations that fund research, clinicians, individuals with autism and their families to help translate research efforts into evidence-based treatments for autism and its co-morbidities.

During the three congress days, numerous talks were scheduled and most focused on key topics in autism research, followed by round tables with multi-disciplinary participation as well as meetings with ASD focused start-ups. The common theme repeated often during the conference was “autism as a symptom” and the need for detailed diagnostics as well as personalised treatment in neurodevelopmental disorders. The variety of topics covered by the conference presentations highlighted the complexity of autism medical aspects.

“With a large number of comorbid medical conditions diagnosed in people with autism, screening, diagnostics and effective treatments of them is essential. The risk of disorders such as mitochondrial dysfunction, neurometabolic disorders, autoimmune conditions and gastrointestinal diseases is increased in individuals with autism and targeted intervention can improve their health and quality of life.”

Synchrony 2019 topic highlights

Focus on comorbidities

With a large number of comorbid medical conditions diagnosed in people with autism, screening, diagnostics and effective treatments of them is essential. The risk of disorders such as mitochondrial dysfunction, neurometabolic disorders, autoimmune conditions and gastrointestinal diseases is increased in individuals with autism and targeted intervention can improve their health and quality of life. One example of diagnosing potentially treatable medical problems in autism is using detailed genetic testing (Whole exome and whole genome sequencing – WES/WGS). The decreasing cost of WES/WGS have lately made these tests affordable and viable options for ruling out genetic disorders that could manifest behavioral symptoms consistent with autism diagnosis.

Clinical Toolkit for Autism (Thinking Autism)
Image courtesy of: Dr Agnieszka Wroczyńska, Medical University of Gdansk & Attempto Medical Centre

Utilising latest genetic tests to rule out genetic causes of neurodevelopmental disorders.
Image courtesy of Probably Genetic

Trained immunity

This relatively new concept in immunology describes metabolic and subsequent epigenetic reprogramming of the innate immune responses to cause exaggerated inflammatory reactions to various, unrelated subsequent stimuli once such reprogramming occurs. Innate immunity dysfunction and trained immunity mechanisms can contribute to manifestations in a subset of autism with a component of neuroinflammation. Personalized treatments, based on translational scientific findings, may be helpful in select patients with evidence of mal-adapted TI.

Gut microbiome as a treatment target in autism

Microbiota abnormalities are common in persons diagnosed with autism. These alterations proved to be directly related to behaviours in some children with autism. Microbiota Transplant Therapy (MTT), a type of intensive intestinal microbiota transplantation was found to improve gastrointestinal and autism-related symptoms as well as composition gut microbiota. Long-term safety and efficacy of MTT suggests it as a potential therapy to treat children as well as adults with ASD who have GI problems.

The results of the Arizona State University MTT trial in children with autism and GI disorders.
Image curtesy of: Dr James Adams, Arizona State University

Neurobehavioral exacerbations in autism spectrum disorder

A subset of individuals with ASD has been observed to experience acute exacerbations in behavioral symptoms which may resemble PANS/PANDAS (Pediatric Acute-onset Neuropsychiatric Syndrome/Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infections). While PANS/PANDAS are primarily immune mediated conditions, multidisciplinary care is needed for most children affected. The model Stanford PANS/PANDAS Clinic recommendations and research findings were introduced at the conference.

Big data for personalized autism treatment

An important trend has emerged in recent years towards sub-typing of autism using data from a large numbers of ASD subjects that utilises genetics and various molecular markers. There is ongoing research on the use of innovative algorithm platform analysing sets of clinical signs and symptoms, along with a variety of biomarkers to identify subgroups of autism patients (Databased Endophenotyping Patient Identification – DEPI) and offer personalized treatments, including repurposed drugs targeting molecular pathways that lead to abnormal cell functioning in autism. Clinical trials are scheduled for 2020.

Cell danger response in autism

The cell danger responses (CDR) are the evolutionarily conserved metabolic responses triggered by chemical, physical, or biological factors exceeding the cellular capacity for homeostasis. It has been suggested that CDR contributes to autism pathogenesis and manifestations. The safety and activity of low-dose suramin, anti-purinergic drug targeting CDR, showed promise as a novel approach to treatment of ASD in a small study, including improvements in youth with severe autism. The SAT2 study of 50 individuals with ASD is planned in 2020.

Planned biobank and multi-omics research

Registry of children and adults with autism storing diverse phenotypic data including comorbid conditions and longitudinal history and a biobank of biologic samples is hoped to accelerate multi-omics research of the processes involved in autism pathophysiology, identify useful biomarkers, and move closer to understanding potential therapeutic targets.

“Synchrony 2019 aimed to facilitate collaboration between researchers, clinicians and parent advocates on complex autism related issues that can only be fully answered through multidisciplinary collaboration.”

Future steps – multidisciplinary collaboration as the way forward

Synchrony 2019 aimed to facilitate collaboration between researchers, clinicians and parent advocates on complex autism related issues that can only be fully answered through multidisciplinary collaboration. The conference hopefully established connections between researchers that will last long beyond 8-10 November 2019.

The Brain Foundation goal is to identify the multi-disciplinary research agenda required to address such issues, develop collaborative working groups and fundraise to pursue the novel research ultimately addressing the unmet medical needs of persons with autism and improving the outcomes.

Multidisciplinary and personilised approach to autism treatment
Image courtesy of: Dr Agnieszka Wroczyńska, Medical University of Gdansk & Attempto Medical Centre

Brain Foundation focus and aims – 2020 and beyond

Transcranial direct current stimulation tDCS – a novel treatment for autism?

Transcranial direct current stimulation tDCS – a novel treatment for autism?

One of the treatment modalities that has shown the greatest promise for reducing symptoms of autism in recent years is transcranial direct current stimulation (tDCS). The most recent study confirmed and expanded on the findings of previous investigations, which strongly indicate that tDCS could have positive effects on cognition, behaviour and physical health, and improve quality of life and autonomy for a large percentage of individuals with autism.

Century-old drug offers new hope for autism treatment

Century-old drug offers new hope for autism treatment

A small double-blind, placebo-controlled trial shows dramatic effects of suramin as a treatment for autism. Improvements were seen in all three core features of autism: language, social interactions, and restricted or repetitive behaviours across multiple diagnostics in multiple tests in all who received the active treatments, absent in the placebo arm

Autistic regression linked to autoimmunity

Autistic regression linked to autoimmunity

Autistic regression is a phenomenon where a previously normally developing child loses developmental milestones and previously acquired language and social skills, and regresses into autism. Symptoms such as fever, vomiting, incessant crying, irritability, changes in sleep patterns and emergence of motor abnormalities are frequently noted around the time of autistic regression…

Autism Action Month: 12-month autism research recap 2018

Autism Action Month: 12-month autism research recap 2018

We chose to call April Autism Action month, in large part because there is plenty of general awareness. Given the skyrocketing rates, it’s difficult to find an adult who doesn’t know a child with autism. However, there ought to be vast improvements when it comes to autism research awareness. With that in mind, below is our quick overview of important autism research (action!) from the past 12 months.

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