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Point. Act. Thrive.

Earlier diagnosis and intervention can help children with autism thrive.

Autism spectrum disorder (ASD) can be diagnosed through behavioral assessment by a trained clinician in children as young as 24 months. The average age of diagnosis in the United States, however, is over 4 years old.1

Without a biological test to identify children at risk for ASD, many are diagnosed late. It can be difficult to know what’s typical for developmental milestones, compared to what’s delayed for an individual child. Some tools do exist—for instance, children who have failed the Modified Checklist for Autism in Toddlers, or M-CHAT, may have developmental delays.

Nevertheless, many parents and pediatricians choose to “wait and see,” which may lead to delayed diagnosis and loss of time to intervene. Even after a child is referred to a specialist for behavioral assessment, the wait time to see a therapist may exceed a year.

Yet multiple studies have indicated that children with ASD who receive early intervention have better outcomes than those who are treated later.2-4  Parents may wonder if there was something that could be done now, before their child falls further behind.

NeuroPointDX ASD Panel

NeuroPointDX has demonstrated through its autism research study (Children’s Autism Metabolome Project, or CAMP) and two previous studies that some children as young as 18 months old could receive an ASD diagnosis through a simple blood test.

Our test, ASD Panel v. 1.0, measures a number of molecules in the blood called metabolites and compares them to each other. With the ASD Panel, we can identify a group of children that may not be metabolizing certain molecules normally.

When this problem is identified, it is a strong indication that the child will be diagnosed with autism, when compared to the results of the ADOS-2 (Autism Diagnostic Observation Schedule, Second Edition). Physicians can then prioritize additional testing, which could lead to earlier diagnosis.

The ASD Panel will become widely available soon. Physicians interested in participating in our Beta Program should contact us for more information.

There are also some studies which indicate that adding or removing certain types of foods may be beneficial for some of these patients.5-9

Our Mission

We strive to improve the lives of children and families living with autism spectrum disorder and other neurological disorders by providing tools for earlier diagnosis and more precise treatment.

About the Company

NeuroPointDX employs a metabolomics platform and expertise in stem cell modeling to identify biomarkers. Our first-generation tool to assist with the diagnosis with autism spectrum disorder is the pinnacle of this work and has been NeuroPointDX’s primary focus. We continue to look for ways to identify more children with ASD, and ways to advise their treatment to address their specific needs. Our work is also relevant to other neurological disorders that are notoriously difficult to diagnose and treat, including schizophrenia, depression, and anxiety.

Leadership

Join Our Team

NeuroPointDX is currently seeking:

LCMS Scientist

Customer Care Specialist

Please submit your resume and cover letter to Dana Kelly at  dkelly@neuropointdx.com

References

  1. Centers for Disease Control and Prevention: Autism Spectrum Disorder (ASD).
  2. Fernell, Elisabeth, et al: Early diagnosis of autism and impact on prognosis: a narrative review. Clinical Epidemiology. 2013; 5: 33-43.
  3. Rogers, Sally et al: Evidence-based comprehensive treatments for early autism. Journal of Clinical Child & Adolescent Psychology. 2008; 8-38.
  4. Corsello, Christina: Early intervention in autism. Infants & Young Children. 2005; 18: 74-85.
  5. Smith et al.: Amino acid dysregulation metabotypes: potential biomarkers for diagnosis and individualized treatment for subtypes of autism spectrum disorder. 2018 Biological Psychiatry, doi: 10.1016/j.biopsych.2018.08.016.
  1. Maynard and Manzini 2017 Balancing Act: maintaining Amino Acid Levels in the Autistic Brain. Neuron 93, 476-479.
  2. Novarino et al. 2012 Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy. Science 338, 394-397.
  3. Garcia-Cazorla et al. 2014 Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients. Human Mut. 35 (4), 470-477.
  4. Tarlungeanu et al. 2016 Impaired Amino Acid Transport at the Blood Brain Barrier is a Cause of Autism Spectrum Disorder. Cell 167, 1481-1494.

(608) 441-8187

504 S. Rosa Rd. Suite 150
Madison, WI 53719

contact@NeuroPointDx.com

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