12/31/2025
Understanding Dysautonomia: Could this explain some of the symptoms seen in children with CYFIP2?
This is a topic we began thinking about in a very personal way. Recently, we traveled home with Lucas to the far east end of Long Island, NY, right on the coast, where the wind is strong and cold. Every time we took Lucas outside, even briefly to get him into the car, he would suddenly vomit. There was no retching, no warning, and no other signs of distress. Despite being on Nexium for years, vomiting is one symptom we have never been able to fully explain, and we’ve long suspected it wasn’t truly coming from his stomach or reflux. Experiencing this has made us pause and ask a deeper question: could this be related to how his nervous system responds to environmental stress like cold and wind? That question led us to dysautonomia.
🧠 What is Dysautonomia?
Dysautonomia is an umbrella term used to describe dysfunction of the autonomic nervous system (ANS). The ANS controls many automatic body functions we don’t consciously think about, such as:
• Heart rate and blood pressure
• Breathing
• Digestion and gut motility
• Temperature regulation
• Sweating
• Bladder and bowel function
When this system doesn’t regulate properly, the body struggles to maintain balance, especially during stress, illness, or environmental changes like temperature shifts.
🔍 Why Does Dysautonomia Happen?
Dysautonomia can occur for many reasons, including:
• Genetic or neurodevelopmental conditions
• Brain injury or abnormal brain development
• Dysfunction in the brainstem or peripheral nerves
• Immune or inflammatory processes
• Mitochondrial or metabolic dysfunction
• Secondary effects of seizures or chronic neurological stress
In children with complex neurological disorders, dysautonomia is often secondary, meaning it arises as part of broader nervous system involvement rather than being a primary diagnosis.
⚠️ Common Symptoms
Symptoms can vary widely and may fluctuate day to day. Children may experience:
• Abnormal heart rate (too fast, too slow, or variable)
• Blood pressure instability
• Temperature instability (runs hot or cold, poor fever response)
• Excessive or absent sweating
• Chronic constipation, reflux, or feeding intolerance
• Nausea or vomiting (often without typical GI warning signs)
• Fatigue or low stamina
• Color changes (pale, flushed, mottled, or bluish hands/feet)
• Dizziness or fainting (more noticeable in older children)
• Breathing irregularities or breath-holding spells
Not every child will have all symptoms, and many signs are subtle, especially in non-verbal children.
🩺 Which Professionals Can Help?
If you suspect dysautonomia, evaluation often involves a multidisciplinary team, which may include:
• Neurologist (especially one familiar with complex neurogenetic conditions)
• Cardiologist (for heart rate and blood pressure regulation)
• Gastroenterologist (for motility and feeding issues)
• Autonomic specialist (when available)
• Geneticist or metabolic specialist
• Pulmonologist (if breathing regulation is affected)
Diagnosis is often clinical, based on symptoms and history, rather than a single definitive test.
🧬 Can Dysautonomia Occur in Children with CYFIP2?
There is currently no published, systematic data defining dysautonomia as a core feature of CYFIP2-related disorders. However, based on clinical experience and what we understand about CYFIP2’s role in the nervous system:
• Dysautonomia is biologically plausible in some individuals with CYFIP2.
• CYFIP2 plays a role in neuronal signaling and brain development, including regions involved in autonomic regulation.
• Children with severe developmental and epileptic encephalopathy (DEE), regardless of the gene, are at increased risk for autonomic instability.
🔬 Is This Limited to Arg87Cys or Could This Be Present in Other Variants?
• Children with Arg87Cys, which is associated with a more severe phenotype, may be at higher risk due to broader neurological involvement.
• That said, dysautonomia might not be exclusive to Arg87Cys.
• Children with other CYFIP2 variants, including those considered less severe, may also experience autonomic symptoms, especially in the presence of seizures or significant neurological involvement.
Severity increases risk, but variant alone does not determine whether dysautonomia can occur.
💡 Why This Matters
Dysautonomia can significantly impact daily life, but recognizing it can change care. Identifying autonomic dysfunction may allow for:
• Symptom-targeted interventions
• Adjustments in medications and feeding plans
• Temperature and environmental strategies
• Better coordination across specialties
Even without a cure, management can make a meaningful difference.
👉 Final Note
If this resonates with your child’s experience, you are not alone. Dysautonomia is often under-recognized in medically complex children, but awareness is the first step toward understanding and support.
As always, the CYFIP2 Network remains committed to listening to family experiences, asking hard questions, and sharing information that helps improve the daily lives of our children.
