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 and symptoms of a seizure disorder:
- 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