NeuroQure

The Science Behind NeuroQure's Test for Autism Risk

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The Power of Early Autism Risk Detection Testing

NeuroQure's ASD Insight™ autism risk screening test enables risk assessment in children as young as newborns. This is far earlier than traditional behavioral evaluations.

By identifying risk months or even years before behavioral signs emerge, patients have the potential to better manage autism spectrum disorders. In fact, early intervention leads to a formative increase in IQ, around ~10 points higher.

This makes ASD Insight™ an invaluable test when looking at ways to intervene sooner.

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The Accuracy — and Implications — of ASD Insight™

How accurate is testing for autism risk?

While not an autism prenatal testing option, the ASD Insight™ test can be performed just days after birth, potentially enabling early intervention autism strategies and improving autism treatment efficacy.

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What Does Testing for Autism Risk Show?

Our ASD Insight™ test detects a cellular signal shared by individuals with:

  • High-potency single-gene (monogenic) ASD syndromes (e.g., Fragile X, Tuberous Sclerosis)

  • High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder

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It's Crucial to Understand That the ASD Insight™ Test:

  • Is the risk of autism detected in NeuroQure's ASD Insight™ test?

  • Can ASD Insight™ be used as an autism prenatal test?

  • How does ASD Insight™ differ from genetic screenings for autism?

Frequently Asked Questions

Is the risk of autism detected in NeuroQure’s testing?
Yes. ASD Insight™ analyzes a critical node in the complex signaling pathway leading to ASD. This node is the activation of an organellar calcium ion channel, the IP3R, found in all cells. The test measures the channel behavior as it releases the calcium store to initiate a range of cellular behaviors implicated in autism including the fusion of neurotransmitter-containing vesicles into the synapse, activation of mitochondrial ATP synthesis, immune T & B cell responses, and gut motility & secretion. The ion channel is incapable of stable opening in ASD, so all of these cellular functions are significantly impaired. A low calcium signal below a calibrated threshold is associated with ASD. In ASD Insight™, signaling thresholds were set to minimize false positives while maintaining high sensitivity. A substantial majority of individuals scoring in the ASD range on ADOS (Autism Diagnostic Observation Schedule) testing demonstrate calcium signaling patterns below the established threshold. Specific behavioral features and severity cannot be predicted.
Can this be used as autism prenatal testing?
The NeuroQure ASD Insight™ risk detection test is recommended for patients of any age but may be most beneficial for birth through preschool ages when the ADOS assessment is more challenging or unavailable to administer. ASD Insight™ can be performed on skin fibroblasts from a skin biopsy or discarded foreskin after circumcision. The NeuroQure ASD Insight™ early risk detection test is intended to be used in addition to, and not replace, ASD diagnostic tests your healthcare provider recommends.
How does this test differ from genetic screenings for autism?

ASD Insight™ is not a genetic test. While genetic tests analyze DNA and other genetic material, ASDInsight tests calcium signaling, certain levels of which have been associated with risk for ASD. Individuals with risk for ASD demonstrate a high probability of testing positive for ASD with or without a known genetic association.

Genetic tests analyze genetic material, most commonly DNA, for alterations associated with specific genetic conditions. Autism has been associated with over 185 moderate to highly penetrant, and nearly 1000 low to moderately penetrant genetic findings, and therefore, genetic testing is often suggested in evaluating an individual with autism with tests such as fragile X syndrome testing, a chromosomal microarray and/or whole exome sequencing. However, only 25-40% of individuals with ASD have an underlying genetic cause that can be detected.

How can these results impact early intervention autism strategies?
Early intervention is key for ASD. Studies have shown significant behavior and IQ improvements when treatment begins early.2 Studies have shown that children diagnosed at the earliest possible age (2 years) versus those diagnosed at the current average age (5 years) can see a noticeable IQ improvement by 17 points.2 Formatively, this could have an immense impact as the child continues to mature and influence independence positively.
Can someone without autism have a signal detected with ASD Insight™?
To date, ASD Insight™ has not been positive in neurotypical individuals, meaning a positive result is highly associated with ASD risk. Signaling thresholds were set to minimize false positive reports while maintaining high sensitivity. A substantial majority of individuals scoring in the ASD range on ADOS (Autism Diagnostic Observation Schedule) testing have a signal detected on ASDInsight. Specific behavioral features and severity cannot be predicted.
Laboratory / Test Information
  1. General information: Autism spectrum disorder (ASD) had no defined biomarkers for diagnostics or novel drug discovery. A major cluster of ASD-associated loci encode calcium signaling proteins. Functional measurement of these signals in fibroblasts shows altered intracellular Ca2+ release in monogenic syndromes associated with ASD (FMR1, TSC1, TSC2, etc.), as well as sporadic ASD. Ca2+ channels in these patients demonstrate a reduced mean open-time and therefore low flux, while other measurable parameters, such as channel abundance, selectivity, conductance, and latency, are unchanged. This result is similar to single-channel kinetic changes seen in genetic channelopathies.
  2. Methodology: The skin biopsy is processed using enzymatic dissociation and fibroblasts are cultured in standard medium. Cultured cells are plated in triplicate along with controls and then subjected to stimulation of Ca2+ signaling with ATP, ionomycin and buffer. All triplicates are averaged and normalized to a baseline based on triplicate controls included on each plate. The Ca2+ signal and closure of the calcium channel is calculated based on a previously published algorithm (Schmunk et al.) and reported as detected or not detected based on the rate of calcium flux on closure as compared to controls. The reference range is not detected based on the measured calcium flux, which is physiologic and in the range of that seen in neurotypical controls.
  3. References: Schmunk G, Nguyen RL, Ferguson DL, Kumar K, Parker I, Gargus JJ. High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder. Sci Rep. 2017;7:40740 Nguyen RL, Medvedeva YV, Ayyagari TE, Schmunk G, Gargus JJ. Intracellular calcium dysregulation in autism spectrum disorder: An analysis of converging organelle signaling pathways. Biochim Biophys Acta Mol Cell Res. 2018;1865(11 Pt B):1718-1732.Schmunk G, Boubion BJ, Smith IF, Parker I, Gargus JJ. Shared functional defect in IP3R-mediated calcium signaling in diverse monogenic autism syndromes. Transl Psychiatry. 2015;5(9):e643.
  4. Disclaimer: ASD Insight™ was developed and its performance characteristics were determined by NeuroQure, Inc, a clinical laboratory. It has not been cleared or approved by the US Food and Drug Administration. This test is used for clinical purposes. It should not be regarded as investigational or for research.
Relevant Literature
  1. Schmunk et al. 2015. Transl Psychiatry.
  2. Schmunk et al. 2017. Sci Rep.
  3. Nguyen et al. 2018. Biochim Biophys Acta Mol Cell Res.
  4. Cardenas et al. 2010. Cell.
  5. Gargus. 2009. Ann N Y Acad Sci.
  6. Filipek et al. 2004. J Autism Dev Disord.
  7. Siddiqui et al. 2023. eLife.
  8. Siddiqui et al. 2016. Autism Open Access.
  9. Makio et al. 2024. Cell Calcium.
  10. Swain et al. 2024.

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