Symptoms What to look for/be aware of Investigation & treatment and/or referral pathway Further reading

Puberty

  • Hormonal changes can worsen all EBAD symptoms and affect seizures and tone. The efficacy of medication can reduce at this time.
  • Likely to have irregular menses but check also for polycystic ovaries. May also be hairier.
  • Growth and nutrition need closer monitoring during adolescense.
  • Screaming, mood disturbances, loss of appetite, period pains. Can worsen tone/epilepsy etc.
  • For polycystic ovaries – blood tests for high levels of male hormones and scan of the ovaries.
  • Use over the counter painkillers as needed for period pain.

SIADH

  • Increase in seizure activity if epileptic but can cause seizures in someone who previously has not had them.
  • Increased secretions.
  • Visual disturbances.
  • Low sodium in blood tests.
  • Agitation, nausea and tiredness.
  • Referral to endocrinologist.
  • Sodium supplement.
  • May need restricted fluid regime.