Bosch-Boonstra-Schaaf optic atrophy syndrome & Epilepsy

*Epilepsy is a chronic disorder, the hallmark of which is recurrent, unprovoked seizures.

*Epilepsy Foundation

*Overall, 52% of individuals with BBSOAS have also been diagnosed with Epilepsy/Seizures.

*The Phenotypic Expansion of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome and Further Evidence for Genotype-Phenotype Correlations (2020)

*Some Common types of seizures seen in individuals with BBSOAS:

  • Infantile Spasms
  • Focal Seizures
  • Absence Seizures
  • Generalized Clonic-Tonic Seizures
  • Atonic Seizures
  • Myoclonic Seizures

*The Phenotypic Expansion of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome and Further Evidence for Genotype-Phenotype Correlations (2020)

*There are more than 40 different types of seizures. These are some common signs of a seizure:

  • Loss of consciousness
  • Loss of mobility
  • Trembling/shaking
  • Confusion/uncertainty
  • Loss of senses
  • Change in emotion/behavior
  • Incontinence

*Epilepsy Foundation

*Some people have patterns to their seizures (also called triggers). Some common triggers include:

  • Specific time of day or night
  • Sleep deprivation
  • At times of fevers or other illnesses
  • Flashing bright lights or patterns
  • Not eating well, low blood sugar

*To determine the type of seizures, neurologists will collect the patient’s medical history and perform medical testing such as:

  • Blood tests
  • EEG tests
  • Brain Imaging (possibly CT and MRI scans)

*Seizure medications are the most common treatment. Other treatment options may include:

  • Surgery
  • Neurostimulation devices
  • Dietary therapy

*Epilepsy Foundation