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<p>Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that may involve disruptions in metal homeostasis. This study explores the novel use of stable isotope ratios as biomarkers for ASD. The isotopic compositions of essential elements (Mg, Cr, Fe, Cu, Zn, Sr) were measured in blood and urine of children with ASD and neurotypical children to predict condition severity. 38 children (20 with ASD, 18 neurotypical), aged 2–6 years were recruited. Inductively coupled plasma mass spectrometry (ICP-MS) was used to analyze elemental and isotopic concentrations. Results revealed children with ASD had substantially lower blood levels of chromium (e.g., ⁵²Cr: 7.14 × 10¹±5.93 vs. neurotypical, <i>p</i> = 0.004) and copper (e.g., ⁶⁵Cu: 4.63 × 10¹±5.33, <i>p</i> = 0.004), with large effect sizes (Cohen’s d&gt; -0.98). These findings remained significant after false discovery rate correction. Notably, distinct isotopic fractionation was observed. The ASD group showed pronounced enrichment of heavy magnesium (²⁶Mg) in blood, with a δ-value of 6604.14 compared to 5444.84 in neurotypical. Conversely, a significant depletion of heavy zinc (⁶⁶Zn) was found in ASD blood (δ-value: 1113.45 vs. 1619.64 in neurotypical). In urine, magnesium isotopes were significantly reduced (e.g., ²⁴Mg: 3.23 × 10³±1.34 × 10³ in ASD vs. neurotypical, <i>p</i> = 0.001). Predictive modeling using δ-values differentiated between both groups. The isotopic ratios, particularly δ²⁶Mg/²⁴Mg in blood and δ²⁵Mg/²⁴Mg in urine, were more discriminative than absolute concentrations, highlighting their potential as sensitive biomarkers of altered metal metabolism in ASD. This study concludes that stable isotope analysis of blood and urine presents a promising tool for developing biomarkers to aid severity prediction of ASD.</p>

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Elemental and Isotopic Profiles in Blood and Urine of Jordanian Children with Autism Spectrum Disorder: a Preliminary Comparative Study with Neurotypical Children

  • 期刊论文

  • 发表日期：

    2026年1月6日

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  • Ayat Hussein B. Rashaid,
  • Tasneem Hussein Shanayneh,
  • Rand Mohammad Jaradat,
  • Shreen Deeb Nusair,
  • Mahmoud Ahmad Bashtawi

摘要

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that may involve disruptions in metal homeostasis. This study explores the novel use of stable isotope ratios as biomarkers for ASD. The isotopic compositions of essential elements (Mg, Cr, Fe, Cu, Zn, Sr) were measured in blood and urine of children with ASD and neurotypical children to predict condition severity. 38 children (20 with ASD, 18 neurotypical), aged 2–6 years were recruited. Inductively coupled plasma mass spectrometry (ICP-MS) was used to analyze elemental and isotopic concentrations. Results revealed children with ASD had substantially lower blood levels of chromium (e.g., ⁵²Cr: 7.14 × 10¹±5.93 vs. neurotypical, p = 0.004) and copper (e.g., ⁶⁵Cu: 4.63 × 10¹±5.33, p = 0.004), with large effect sizes (Cohen’s d> -0.98). These findings remained significant after false discovery rate correction. Notably, distinct isotopic fractionation was observed. The ASD group showed pronounced enrichment of heavy magnesium (²⁶Mg) in blood, with a δ-value of 6604.14 compared to 5444.84 in neurotypical. Conversely, a significant depletion of heavy zinc (⁶⁶Zn) was found in ASD blood (δ-value: 1113.45 vs. 1619.64 in neurotypical). In urine, magnesium isotopes were significantly reduced (e.g., ²⁴Mg: 3.23 × 10³±1.34 × 10³ in ASD vs. neurotypical, p = 0.001). Predictive modeling using δ-values differentiated between both groups. The isotopic ratios, particularly δ²⁶Mg/²⁴Mg in blood and δ²⁵Mg/²⁴Mg in urine, were more discriminative than absolute concentrations, highlighting their potential as sensitive biomarkers of altered metal metabolism in ASD. This study concludes that stable isotope analysis of blood and urine presents a promising tool for developing biomarkers to aid severity prediction of ASD.