Medical Testing in Autism – Where to Start and What to Look For

When supporting a child with autism, one of the most powerful steps you can take is to understand what’s happening inside their body. Testing provides a map: it shows what’s missing, what doesn’t belong, and what needs support. Without testing, parents are often left guessing — and guessing can lead to frustration, wasted money, or even making symptoms worse.

Not every family has the resources for a full panel of tests, and that’s okay. We can distinguish between essential testing (a good starting point) and additional testing (for deeper insight when possible).

✅ Essential Testing – The Starting Point

These are the tests I recommend first, as they provide the most immediate and practical insights:

1. Nutritional Profile

   • Tests for macro- and micronutrients: vitamins, minerals, amino acids, fatty acids.

   • Why? Because autistic children often have absorption issues and higher metabolic needs. Deficits can drive inflammation, oxidative stress, and regression.

2. Inflammation Markers

   • Cytokines and related markers of immune activation.

   • Why? Chronic low-grade inflammation is one of the core issues in autism and drives regression. Identifying inflammatory patterns helps target diet, lifestyle, and supplementation.

3. Comprehensive Stool Analysis

   • Evaluates gut microbiome, digestion, enzyme activity, pathogens, and dysbiosis.

   • Why? Around 70% of the immune system resides in the gut. Stool testing reveals infections, imbalances, and maldigestion that affect behavior, mood, and progress.

4. Food Sensitivities and Allergies

   • Identifies foods that trigger immune reactions or worsen inflammation.

   • Why? Food sensitivities are one of the most overlooked drivers of regression and can fuel digestive pain, behavioral flare-ups, and immune stress.

5. Toxicity Screening

   • Checks for heavy metals, environmental toxins, and chemical overload.

   • Why? Autistic children often have reduced detox capacity, making them more vulnerable to toxins that damage mitochondria and fuel inflammation.

📌 In a nutshell (Essentials):

• Nutritional gaps

• Inflammation

• Gut health

• Food sensitivities

• Toxins

These five form a strong foundation and already provide a clear roadmap for intervention.

🔍 Additional Testing – For Deeper Insight

Once the basics are covered, some families choose to go further:

• Mitochondrial Function Tests

  • To assess energy production inside cells.

  • Why? Many autistic children struggle with mitochondrial dysfunction, leading to fatigue, developmental delays, and slow recovery.

• Oxidative Stress & Glutathione Levels

  • Why? Oxidative stress is a direct driver of neuroinflammation. Testing antioxidant status (like glutathione) shows how well the body can defend itself.

• Genetic Testing (optional, but valuable in some families)

  • Especially if multiple children in the family are neurodivergent.

  • Why? Genetic variants (e.g., MTHFR, COMT) influence methylation, detox, and nutrient use, guiding supplementation choices.

📌 In a nutshell (Add-ons):

• Mitochondria

• Oxidative stress & Glutathione (Master Antioxidant & Detoxifier)

• Genetics
  

  

  
  

🧾 From Testing to Action – How It Works

Testing is not about collecting data for the sake of it. It is about building an individualized intervention roadmap. Here’s how the process flows:

1. Testing – Find out what’s missing (nutrients), what’s overactive (inflammation), and what doesn’t belong (toxins, pathogens, sensitivities).

2. Intervention – Build a plan: lifestyle adjustments, dietary changes, tailored supplementation, and (where necessary) medical intervention.

3. Follow-Up – Monitor progress, retest if needed, and adapt over time.

👉 Important to remember: Studies show the average autistic child carries 2–3 chronic infections (often in the gut, but sometimes viral). In these cases, medical intervention may be necessary alongside functional support.

💙 Closing Message

Every family’s resources are different. Starting with even a few of the essential tests already provides powerful insight and direction. From there, you can add more as needed.

Testing is not about labelling problems. It’s about opening doors. It gives us the knowledge to stop regression, reduce struggle, and create the conditions where progress becomes possible.