What if you could detect #autism risk at birth?

By Gita Gupta

What if autism could be detected as early as birth, using biomarkers –  rather than at age 2-5 years, using behavioral characteristics? That’s what Dr. Naviaux’s new study aims to find out, using data from the newborn screening program. (You may recall Dr. Naviaux’s groundbreaking work on Suramin in autism – see earlier blog post here.)

The newborn screening (NBS) program started over 50 years ago to screen for a disorder called Phenylketonuria (PKU.)  PKU can cause irreversible brain damage if it is left untreated. However –  if detected early, before symptoms occur in the first few months of life, and treated with a modified diet, brain damage is prevented, even though they still express the abnormal gene.  The goal of the newborn screening program is to identify babies with disorders like PKU early, so that treatment can be started right away. These days, millions of babies in the U.S. are routinely screened for various genetic, endocrine, infectious and metabolic disorders, using a few drops of blood from the newborn’s heel.

What if we could do something similar for autism? Could some cases of autism really be prevented by catching the chemical risk signs by a blood test at birth, and treating before the first symptoms occur? Would you change your child’s environment? Monitor medical conditions differently?

Read on to learn more about Dr. Naviaux’s study.

Dr. Naviaux’s Newborn Screening Autism Risk Study

In most cases, autism is believed to be caused by a combination of genetic predisposition and environmental triggers. If autism risk could be identified at birth, we may have a better shot at preventing the consequences of environmental stress before behavioral symptoms become visible.  Dr. Naviaux’s new study looks at data from the newborn screening program for patterns of metabolic dysregulation that indicate autism risk.

Dr. Naviaux’s study has three phases. In the first phase, it will look at newborn screening data from California’s NBS program. All babies born in California are screened for over 80 disorders using a few spots of blood from pricking the heel.  About 60 different measurements are done on the blood spots, looking for metabolites, the substances necessary for metabolism. These metabolites include acylcarnitine, amino acids, etc. Mitochondrial dysfunction is correlated with about 50 metabolites on this test.

The rare disorders screened by the NBS program cause severely abnormal results on some of these metabolites.  Dr. Naviaux suspects metabolic abnormalities in autism may be more subtle, involving just a 30-40% difference compared to neurotypical controls.  Using metabolomics, the study of the chemical processes involving metabolites, and cutting-edge machine learning techniques, the Naviaux lab aims to characterize subtle patterns at birth that may predict the risk of autism later in life.

How you can help

This study is looking to recruit 250 children born in California – 125 with an autism diagnosis, and 125 neurotypical controls. In the initial phase, the study does not need any new samples – they just need your permission to access the NBS data already available on your child from the state of California. They are looking for participants who meet the following criteria:

If your child with autism or your neurotypical child meets the above criteria, please contact the Naviaux lab here to participate.

Will Parents get the results?

You will get an update with the overall study results when the study is completed at the end of the year. You won’t get an update with your child’s individual results or those of other children.

What’s Next?

If this 1^st phase of the study finds a pattern of metabolites that predict autism risk, then the 2^nd and 3^rd  phases of the study will be done on actual dried blood spots. In addition to looking for metabolites, which are natural molecules made by the child’s body, the next phases of the study will also look for environmental toxins such as pesticides, plastics, personal care products, flame retardants, etc. that may be found in a newborn’s blood.

The goal here would be to measure toxin and metabolic risks to determine if children at high risk for developing autism –  say 20%-50% risk, instead of the current background risk of about 2% – can be identified in the first months of life before any symptoms have developed. If that is the case, Dr. Naviaux’s team will launch the 3^rd wave of studies to see if interventions like supplements, prebiotics, probiotics, and changes in routine medical care might help mitigate risk of autism right from the beginning.

Studies Like This Need Your Support!   

We believe that this study is crucial to identify and mitigate the risk of autism and may eventually enable tests that screen right at birth.  Please help support the Naviaux Lab in this important endeavor by enrolling in the study! It will just take a couple of minutes of your time.

The Naviaux Lab also needs philanthropic support. While they have secured funding for the autism treatment trials starting next year, until then, their work, including this study, is funded purely through philanthropic contributions. Click here to support their work.

For more information about Gita Gupta – please see https://www.tacanow.org/about-taca/ambassadors/