[{"command":"openDialog","selector":"#drupal-modal","settings":null,"data":"\u003Cdiv id=\u0022republish_modal_form\u0022\u003E\u003Cform class=\u0022modal-form-example-modal-form ecl-form\u0022 data-drupal-selector=\u0022modal-form-example-modal-form\u0022 action=\u0022\/en\/article\/modal\/10683\u0022 method=\u0022post\u0022 id=\u0022modal-form-example-modal-form\u0022 accept-charset=\u0022UTF-8\u0022\u003E\u003Cp\u003EHorizon articles can be republished for free under the Creative Commons Attribution 4.0 International (CC BY 4.0) licence.\u003C\/p\u003E\n      \u003Cp\u003EYou must give appropriate credit. We ask you to do this by:\u003Cbr \/\u003E\n      1) Using the original journalist\u0027s byline\u003Cbr \/\u003E\n      2) Linking back to our original story\u003Cbr \/\u003E\n      3) Using the following text in the footer: This article was originally published in \u003Ca href=\u0027#\u0027\u003EHorizon, the EU Research and Innovation magazine\u003C\/a\u003E\u003C\/p\u003E\n      \u003Cp\u003ESee our full republication guidelines \u003Ca href=\u0027\/horizon-magazine\/republish-our-stories\u0027\u003Ehere\u003C\/a\u003E\u003C\/p\u003E\n      \u003Cp\u003EHTML for this article, including the attribution and page view counter, is below:\u003C\/p\u003E\u003Cdiv class=\u0022js-form-item form-item js-form-type-textarea form-item-body-content js-form-item-body-content ecl-form-group ecl-form-group--text-area form-no-label ecl-u-mv-m\u0022\u003E\n        \n\u003Cdiv\u003E\n  \u003Ctextarea data-drupal-selector=\u0022edit-body-content\u0022 aria-describedby=\u0022edit-body-content--description\u0022 id=\u0022edit-body-content\u0022 name=\u0022body_content\u0022 rows=\u00225\u0022 cols=\u002260\u0022 class=\u0022form-textarea ecl-text-area\u0022\u003E\u003Ch2\u003EAutism cures may be closer as focus turns to early treatment  \u003C\/h2\u003E\u003Cp\u003EAutism Spectrum Disorder (ASD) is a complex neurodevelopmental condition that has been intensely investigated since the mid-20\u003Csup\u003Eth\u003C\/sup\u003E century. It\u2019s estimated that ASD affects around \u003Ca href=\u0022https:\/\/www.autismeurope.org\/about-autism\/prevalence-rate-of-autism\/\u0022\u003E1 in 100\u003C\/a\u003E children and mainly boys.\u003C\/p\u003E\n\n\u003Cp\u003EStudies suggest that ASD is closely linked to genetics. The basic challenge is untangling the relationships between the many genes involved and the symptoms.\u003C\/p\u003E\n\n\u003Cp\u003E\u003Cb\u003EGenes and symptoms\u003C\/b\u003E\u003C\/p\u003E\n\n\u003Cp\u003EA focus on these links has the potential to enhance understanding of the condition and treatments for it.\u003C\/p\u003E\n\n\u003Cp\u003EFor instance, children born with a rare genetic mutation \u2013 on a gene called BCKDK \u2013 are more likely to develop impairments that, left untreated, would likely result in lifelong autism. Symptoms can include intellectual disability, epilepsy and a condition \u2013 microcephaly \u2013 where a baby\u2019s head is smaller than expected.\u003C\/p\u003E\n\n\u003Cp\u003EThe faulty gene in question disrupts the way the brain can process essential nutrients known as \u201cbranched-chain amino acids\u201d and creates the conditions for delayed neurological development.\u003C\/p\u003E\n\n\u003Cp\u003E\u2018This got us thinking: now we know what causes this neurodevelopmental disorder, can we reverse it once the brain has developed?\u2019 said Gaia Novarino, a neuroscience professor whose team discovered the BCKDK mutation and its link to autism in 2012. \u2018Can we go back in time?\u2019\u003C\/p\u003E\n\n\u003Cp\u003E\u003Cstrong\u003EAward winner\u003C\/strong\u003E\u003C\/p\u003E\n\n\u003Cp\u003ENovarino is a high-profile neuroscientist from Italy who has received numerous awards for her work in the field of autism research, including the Order of Merit of the Italian Republic.\u003C\/p\u003E\n\n\u003Cp\u003E\u2018I have always been interested in genetic disorders and was struck by the general lack of understanding of paediatric, neurodevelopmental disorders,\u2019 she said. \u2018We know too little about these diseases.\u2019\u003C\/p\u003E\n\n\u003Cp\u003EBecause autism shapes the developing brain long before birth, many assume it\u2019s irreversible \u2013 a lifelong condition that, at best, can be managed with psychological support paired with speech and physical therapy.\u003C\/p\u003E\n\n\u003Cp\u003ESome people prefer to forgo treatment because they don\u2019t believe autism needs to be cured, regarding it as an integral part of personality.\u003C\/p\u003E\n\n\u003Cp\u003E\u2018Not everyone wants their ASD, or their child\u2019s ASD, to be treated,\u2019 said Novarino. \u2018If symptoms aren\u2019t profound, a person can live with the condition with minimal support and they may come to see their autism as an essential part of who they are.\u2019\u003C\/p\u003E\n\n\u003Cp\u003EIn any case, more recent research has led scientists to assess whether some forms of ASD may be treatable \u2013 either fully or in part.\u003C\/p\u003E\n\n\u003Cp\u003E\u003Cstrong\u003EMice tests\u003C\/strong\u003E\u003C\/p\u003E\n\n\u003Cp\u003ENovarino\u2019s team, based at the Institute of Science and Technology Austria (ISTA) near Vienna, turned to mice for answers under a five-year European research project called \u003Ca href=\u0022https:\/\/cordis.europa.eu\/project\/id\/715508\u0022\u003EREVERSEAUTISM\u003C\/a\u003E that ended in September 2022.\u003C\/p\u003E\n\n\u003Cp\u003EBacked by EU funding, the researchers genetically engineered mice to be unable to process essential amino acids correctly, similarly to children with the BCKDK genetic mutation.\u003C\/p\u003E\n\n\u003Cp\u003E\u003Cblockquote class=\u0022tw-text-center tw-text-blue tw-font-bold tw-text-2xl lg:tw-w-1\/2 tw-border-2 tw-border-blue tw-p-12 tw-my-8 lg:tw-m-12 lg:tw--ml-16 tw-float-left\u0022\u003E\n  \u003Cspan class=\u0022tw-text-5xl tw-rotate-180\u0022\u003E\u201c\u003C\/span\u003E\n  \u003Cp class=\u0022tw-font-serif tw-italic\u0022\u003EWe\u2019re approaching this from many angles, trying to understand how else we can treat patients with ASD.\r\n\r\n\u003C\/p\u003E\n  \u003Cfooter\u003E\n    \u003Ccite class=\u0022tw-not-italic tw-font-normal tw-text-sm tw-text-black\u0022\u003EProfessor Gaia Novarino, ReverseAutism\u003C\/cite\u003E\n  \u003C\/footer\u003E\n\u003C\/blockquote\u003E\n\u003C\/p\u003E\n\n\u003Cp\u003EAmino acids are protein building blocks needed for vital reactions within and between nerve cells. The body can\u2019t make amino acids itself and instead must find them from foods such as meat, fish, grains and nuts.\u003C\/p\u003E\n\n\u003Cp\u003EThe team found that rodents with the mutation developed both motor and social difficulties after birth.\u003C\/p\u003E\n\n\u003Cp\u003E\u2018These mice have behavioural issues,\u2019 said Novarino. \u2018They also move in a strange way, with coordination problems.\u2019\u003C\/p\u003E\n\n\u003Cp\u003EREVERSEAUTISM then took this research one step further to see whether, by injecting the missing amino acids directly into the brains of affected mice, their autism-like symptoms could be reversed.\u003C\/p\u003E\n\n\u003Cp\u003E\u2018The answer was yes,\u2019 said Novarino. \u2018Not all symptoms disappeared, but there was considerable improvement in both social behaviour and coordination in mice that received injections. In other words, some signs of the disorder were reversed.\u2019\u003C\/p\u003E\n\n\u003Cp\u003E\u003Cstrong\u003EStudy of 21 infants\u003C\/strong\u003E\u003C\/p\u003E\n\n\u003Cp\u003EREVERSEAUTISM\u2019s findings so intrigued Dr Angeles Garc\u00eda-Cazorla of Spain that she decided to study whether children with a BCKDK deficiency showed symptom improvements after taking the missing amino acids as a food supplement in conjunction with a high-protein diet.\u003C\/p\u003E\n\n\u003Cp\u003EGarc\u00eda-Cazorla is head of Metabolic Diseases Unit at the Hospital Sant Joan de D\u00e9u in Barcelona. The missing amino acids are leucine, valine and isoleucine.\u003C\/p\u003E\n\n\u003Cp\u003EThe study was based on 21 patients, aged between eight months and 16 months, recruited from centres around the world. The results were very promising.\u003C\/p\u003E\n\n\u003Cp\u003E\u2018In general, all patients improved, in particular regarding the growth of their head, which means there was a proliferation of neurons,\u2019 said Garc\u00eda-Cazorla. \u2018They also showed improved motor function. Infants who weren\u2019t able to walk could now walk and infants who couldn\u2019t speak developed some basic language.\u2019\u003C\/p\u003E\n\n\u003Cp\u003E\u003Cstrong\u003ESooner the better\u003C\/strong\u003E\u003C\/p\u003E\n\n\u003Cp\u003EThe earlier treatment was begun, the better the outcomes were.\u003C\/p\u003E\n\n\u003Cp\u003E\u2018In the three children who started supplementation before the age of two, the evolution was much better and the child who started at eight months did best \u2013 she had normal brain development, with no signs of autism, by the age of three,\u2019 said Garc\u00eda-Cazorla.\u003C\/p\u003E\n\n\u003Cp\u003EThe study was carried out under an EU-initiated health alliance called the European Reference Network for Rare Hereditary Metabolic Disorders (\u003Ca href=\u0022https:\/\/metab.ern-net.eu\/about-us-3\/#:~:text=MetabERN%20is%20a%20European%20non,metabolic%20rare%20diseases%20(IMDs).\u0022\u003EMetabERN\u003C\/a\u003E), which is led by patients and experts.\u003C\/p\u003E\n\n\u003Cp\u003EIf future studies involving a larger cohort of BCKDK-deficient infants validate the results of the MetabERN investigation, Garc\u00eda-Cazorla and Novarino hope national health policies will be changed to require all babies to be tested for BCKDK deficiency at birth.\u003C\/p\u003E\n\n\u003Cp\u003EThis would form part of the newborn \u201cheel prick\u201d test, which checks up to 25 rare but serious health conditions.\u003C\/p\u003E\n\n\u003Cp\u003E\u2018One of the challenges in the field of autism is that diagnosis is usually done quite late \u2013 rarely before the age of three or four \u2013 and at that point it becomes hard to treat,\u2019 said Novarino. \u2018Our work shows that starting supplementation early can make a real difference to people\u2019s lives.\u2019\u003C\/p\u003E\n\n\u003Cp\u003EShe and her team are pursuing this line of research in a European project called \u003Ca href=\u0022https:\/\/cordis.europa.eu\/project\/id\/101044865\u0022\u003ESecretAutism\u003C\/a\u003E that began in December 2022 and will run through November 2027. They received EU funding to grow brain tissue in the laboratory using human stem cells.\u003C\/p\u003E\n\n\u003Cp\u003EBy studying these \u201corganoids\u201d, the researchers hope to gain further insights into what exactly the many different genes associated with autism are doing in the body, the stages at which problems develop and how to interrupt the process.\u003C\/p\u003E\n\n\u003Cp\u003E\u2018We\u2019re approaching this from many angles, trying to understand how else we can treat patients with ASD,\u2019 said Novarino. \u2018It\u2019s very complex research, but that won\u2019t put us off.\u2019\u003C\/p\u003E\n\n\u003Cp\u003E\u003Cem\u003EResearch in this article was funded by the EU via the European Research Council (ERC). 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