Although established disease-specific recommendations for SKDEAS will be augmented by this website series, the following advice is based on 15 reported cases in Skraban et al, AJHG, 2017.

Management should be based on symptom management:

  • Seizures should be managed with standard anti-epileptic medications as recommended by a neurologist.
  • A brain MRI to assess for underlying structural brain differences should be considered depending on symptoms.
  • Baseline Ophthalmology and cardiac evaluation evaluations should be considered.
  • Growth should be monitored.
  • Early therapies should be considered in any individual exhibiting developmental delay.