Notes from the Treating Autism conference 2016

Last weekend I attended my second Treating Autism event. Treating Autism is a parent-led charity which arranges large education events for parents of children with autism spectrum disorder (ASD). They seem to have an alternative nutrition and alternative therapy leaning but this year’s line up caught my eye as it included some respected published researchers and medics. Here are some of the key messages I got from attending day 2 of this conference. 

John Rodakis – parent of a child with autism and founder of N of one Research Foundation

  • Highlighted the mismatch between research funding in the US – the majority of which is around genetics in ASD and the evidence that genetics is only 45% of the picture.
  • Feels we are approaching a paradigm shift in which we will see more research focuses around the interaction between immune function, microbiome and metabolism in autism
  • Highlighted the Cell Danger Response theory of Dr Robert Naviaux – see his publication here

Professor Dr Athanasios Evangeliou of Papageorgiou Hospital, Thessaloniki

  • Shared his expertise in inborn errors of metabolism (IEMs) and epilepsy and autism management in his practice as a paediatric neurologist.
  • It is well established that a number of IEMs commonly coexist with autism
  • He advocates metabolic screening in children with autism for whom the cause is unknown and particularly if there are several family members affected or red flags
  • His published research screening 187 children with autism revealed 5 to have undiagnosed IEMs and 13 for whom biotin supplementation or ketogenic therapy had an improvement in autism symptoms
  • His encouraging pilot of the ketogenic diet in 30 children with autism has been followed up with a trial of more restrictive 4:1 ketogenic diet – which was less well tolerated but saw a significant improvement in 4 of 20 patients. His team have made the diet better tolerated with the addition of branched chain amino acids (BCAAs) – and he proposes mechanisms by why BCAAs have additional metabolic benefits in autism – by competing at the blood brain barrier with aromatic amino acids – precursors for 5-HT and other neurotransmitters.

Dr Eric Lemonnier MD from University Hospital Limoges, France

  • Shared the background to and the results of his double blinded randomised controlled trial into the use of the diuretic bumetanide as a chloride importer antagonist which inhibits GABA mediated brain signals – which are reported to be altered in autism. The trial found a significant improvement in the Childhood Autism Rating Scale (CARS) in mild to moderately affected children.
  • Side effects of bumetanide included low blood potassium levels- hypokalemia – which can be life threatening if not picked up and treated -therefore this drug shouldn’t be trialed without medical monitoring
  • Further research is looking at giving an injection of bumetanide in pregnancy – in a mouse model of autism.

Dr Agnieska Wroczynska MD from the Medical University of Gdansk, Poland

  • Shared her story of treating her son
  • At 5 years old (2 years after his ASD diagnosis) he developed unexplained aggressive behaviour, chronic diarrhoea and irritability with particular patterns of worsening monthly around the full moon
  • Went on to be diagnosed with a mood disorder
  • She carried out lots of tests and read a lot about current research – which led her to try different medications ‘off-label’
  • First trial was of valproate for mood disorder – this stopped the aggression and monthly episodes – now thinks these were due to migraines which valproate also treats
  • Then gave verapamil (a calcium channel blocker)  – due to flushed patches of skin that seemed like mast cell activation. This stopped the diarrhoea and improved sleep and irritability and skin flushing
  • Then gave bumetanide – which reduced aggression and improved functioning. Did develop hypokalemia – which she treated.
  • Son still has learning disabilities and autism.
  • Big supporter of evidence based medicine but feels autism needs individualised medicine.
  • Emphasised not to try the above as a ‘protocol’ important to get individualised medical treatment and monitoring

Ester Cortinho, Neuroinflammatory Group, Nuffield Department of Clinical Neurosciences, Universiy of Oxford

  • Studies have identified maternal autoantibodies as a potential contributor to differing brain development in ASD -see a review here
  • Their research has used data from a Danish registry of 95 mums, and they have identified some antibodies that when injected into mice reduce their social interaction. The research is due to be published soon. It is very preliminary research, but the idea is to find a possible target for treatment or prevention of antibody damage.

All in all an interesting day.