What Is Fragile X Syndrome?

Fragile X Syndrome is caused by a change (CGG repeat expansion) in the FMR1 gene, which affects production of a protein essential for normal brain development.
Children may experience:

• delayed speech

• sensory sensitivities

• anxiety or social withdrawal

• hyperactivity or impulsivity

• learning difficulties

• autism-like behaviors

While every child presents differently, Fragile X Syndrome is a leading cause of inherited intellectual disability and a common reason for autism genetic evaluation.

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How Fragile X Testing Works

At Second Opinion Physician, we offer Fragile X LabCorp testing, the clinical standard for identifying:

• Full mutation (Fragile X Syndrome)

• Premutation (associated with FXTAS, fertility issues, anxiety, or later-life symptoms)

• Intermediate range results

• Methylation status of FMR1

Families may choose a LabCorp draw center or a mobile phlebotomist for at-home blood collection. Results provide clear, actionable information about whether the FMR1 gene is contributing to a child's developmental or behavioral challenges.

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Why Genetics Alone Doesn’t Tell the Whole Story

Even with a confirmed diagnosis of Fragile X Syndrome, children often have additional biochemical patterns that influence behavior, mood, and stress response. These are not the cause of Fragile X — but they frequently shape symptom severity and daily function.

Many families find that genetics explains why a condition exists, but nutrient chemistry often explains how intensely symptoms are expressed.

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Where the Walsh Approach Adds Insight 

The Walsh nutrient-based model examines how nutrient imbalances change neurotransmitter activity. These patterns are common in children with developmental and behavioral challenges — including those with Fragile X or Fragile-X–like symptoms.

The most relevant Walsh patterns seen in our population are:

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Copper Overload and Emotional Reactivity

Copper elevates norepinephrine, lowers dopamine tone, and often intensifies:

• anxiety

• learning disabilities

• hyperactivity

• irregular sleep patterns

• pectus excavatum (when pyroluria present)

Copper overload does not cause Fragile X Syndrome, but in affected children it often magnifies symptoms.

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Undermethylation and High Histamine

Children who are undermethylated commonly show:

• chronic depression

• OCD-like rigidity

• oppositional defiant disorder

• slow-to-adapt behavior

• occassional large ears (similar to Syndrome X)

• competitive, perfectionist behavior patterns

This profile is frequently overlooked in standard evaluations and is central in Walsh nutrient therapy for autism.

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Toxic Burden and Elevated SAH

Some children have impairment in detoxification pathways, reflected by elevated SAH or glutathione depletion. This can worsen:

• sensory overload

• fatigue or irritability

• behavioral volatility

• inflammation-related symptoms

• toxic overload from gut dysbiosis, medicines, diet, poor  methylation capacity
• poor muscle development

These functional findings can make a significant difference in treatment planning.

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Why Functional Testing Matters 

Alongside fragile x testing, SOP also offers the Doctor’s Data Methylation Pathway Panel — the primary methylation assessment used in the Walsh model. This test evaluates actual biochemical performance of:

• methylation

• detoxification

• antioxidant capacity

• folate metabolism

• neurotransmitter precursors

This is not the same as MTHFR or COMT genetic testing.
Functional testing shows what is happening now, not what might happen based on DNA.

For families navigating Fragile X Syndrome, this often opens the door to nutrient therapy for Fragile X Syndrome, targeting what can be improved even when a genetic diagnosis exists.

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A Practical, Hopeful Path Forward

Fragile X genetic testing helps families understand the true nature of their child’s challenges. But it is equally important to identify which aspects of behavior, mood, and development are modifiable.

Many children with Fragile X respond meaningfully to nutrient-based adjustments that stabilize neurotransmitter activity, improve stress tolerance, and support developmental progress.

Through the combination of:

• reliable Fragile X Syndrome diagnosis

• a deeper biochemical review

• targeted nutrient therapy

• and the guidance of the Walsh Approach

families receive a clearer, more compassionate roadmap — one that respects the genetic foundation while empowering them with steps that can support real-world improvement.