SPTAN1 Caregiver Survey – Key Takeaways for Families by Michelle Wilson, PhD & Francis Wong, MD, MBA, MPH

​Full article here; may be behind a paywall. Please see summary below.

​

• What is SPTAN1?

  • It’s a gene that helps support and protect nerve cells in the brain and body.

  • Variants (changes) in SPTAN1 can cause a wide range of developmental and medical challenges.

• Who was included in the survey?

  • 25 children and adults with SPTAN1 variants (14 boys, 11 girls).

  • Ages ranged from under 1 year old to 41 years old.

  • Most variants (91%) happened de novo (not inherited).

• Most common challenges (seen in at least half of participants):

  • Speech difficulties or absent speech (92%)

  • Cognitive delays or learning difficulties (76%)

  • Abnormal brain scans (72%)

  • Epilepsy (60%)

  • Movement and mobility challenges

  • Vision problems

  • Microcephaly (small head size)

  • Sensitivity to lights and noises

  • Gastrointestinal (GI) issues like reflux or constipation

• Other health concerns caregivers reported:

  • High pain tolerance

  • Hearing differences

  • Bladder problems and frequent infections

  • Muscle pain, cramps, or joint swelling

  • Fragile skin, slow wound healing

  • Blood abnormalities (anemia, high ferritin, unusual cell shapes)

  • Autoimmune conditions (such as encephalitis, thyroid issues, severe eczema) in 16% of cases

  • Organ or skeletal abnormalities (44%)

• Unique observations:

  • Many caregivers (64%) described their child as having a happy, easy-going personality.

  • More than half (52%) noticed a decline in motor or cognitive skills over time.

  • Some inherited cases suggest a possible protective effect in females (mothers sometimes carry the variant without showing symptoms).

• What this means:

  • SPTAN1 can affect many areas of life — not just seizures or brain development.

  • Symptoms may change or progress with age.

  • Families may see challenges with immunity, growth, and overall health, along with neurological symptoms.

Bottom line for families:
This survey shows that children and adults with SPTAN1 may share some common struggles (like speech, mobility, and epilepsy), but each person’s experience is unique. Caregivers also emphasized positive traits, like happy personalities, even alongside serious medical challenges.

​