On-going Case Study: Early Intervention in a 13-Year-Old Girl with Autism

Background

The subject is a 13-year-old girl diagnosed with autism. She had previously missed a substantial period of schooling due to difficulties in daily functioning. More recently, she has resumed school attendance, though her ability to participate in the curriculum varies from day to day.

The mother, who has limited resources, is aiming to maximise support for her daughter while keeping costs manageable.

The strategy is to provide a targeted supplementation protocol based the her genetics, as well as lifestyle factors like being almost fully vegetarian (excluding chicken). This areas being addressed before ordering advanced biomarker testing (TruHealth test), to optimise data from a single test and reduce repeat testing costs.

Genetic testing revealed that the child is homozygous for the MTHFR C677T variant, conferring a higher risk of folate deficiency and methylation impairment. This guided the choice of several supplements.

Supplement Protocol

1. Vitamin Complex (with B methylated forms)

• Contains methylfolate and methylcobalamin, specifically chosen due to the MTHFR C677T homozygous genotype.

• Additional cofactors include zinc and selenium, both commonly low in vegetarian diets and linked to improved immune and neurological function, genetic selenium deficiency risk identified.

• 2000iu supplemented as serum vitamin D levels were suboptimal, low levels being associated with ASD symtoms.

  
  

2. Magnesium (glycinate, 300mg daily)

• Supports sleep regulation, neuronal excitability, and anxiety reduction.

  
  

3. Omega-3 (Cod Liver Oil, 1000mg daily)

• Provides DHA/EPA for brain function and anti-inflammatory support.

  
  

5. Probiotic (10-strain, 30 billion CFU)

• Targeted to improve gut dysbiosis, which has been associated with autism-related symptoms.

• Expected benefits include improved gastrointestinal comfort, better nutrient absorption, and possible effects on mood and cognition via the gut-brain axis.

  
  

6. N-Acetylcysteine (NAC, 600mg daily)

• Aims to support glutathione synthesis and reduce oxidative stress.

• Evidence suggests benefits for repetitive behaviors and anxiety in autism.

• Also supports GABA signaling while lowering glutamate, which is often elevated in autism and linked with meltdowns and panic episodes.

  
  

7. Choline Bitartrate (350mg daily)

• Supplemented due to both genetic methylation needs and a vegetarian diet with limited dietary choline intake.

• Supports acetylcholine synthesis, memory, and focus (dose under review with TruHealth).

  
  

8. L-Tyrosine (500mg daily)

• Introduced at a conservative dose to support dopamine synthesis.

• Goal is to improve motivation and engagement in school (dose under review with TruHealth).

  
  

9. Trimethylglycine (TMG, 1000mg daily)

• Provides additional methyl donors to support methylation pathways impaired by MTHFR mutation (dose under review with TruHealth).

  
  

10. Spirulina (3g on weekends, mixed with apple juice)

• Chosen as a natural iron source while awaiting bloodwork for iron status.

• Provides plant-based protein, B vitamins, and antioxidant support.

  
  

Interim Observations

• School Attendance: Since initiation of supplementation, the subject has been able to return to school, with performance recently improving too.

• Anxiety/Meltdowns: NAC appears to be well tolerated, with potential calming effects observed.

• Nutritional Coverage: Supplementation has targeted common deficiencies in autism (methyl donors, vitamin D, choline, zinc, selenium, omega-3, probiotics).

Future Directions

1. TrueHealth Testing

   • Will assess methylation, mitochondrial function, and gut dysbiosis markers.

   • Specific focus on glutathione levels, oxidative stress markers, and methylation balance.

2. Dietary Considerations

   • Monitoring adequacy of other nutrients and fibre intake given partial vegetarian diet and limited biodiversity.

   • Pending iron studies, spirulina is being used as an interim natural source of iron.

3. Symptom Tracking

   • Continued monitoring of anxiety, focus, and school engagement.

   • Regular review of supplement dosages, particularly L-tyrosine and choline.