Epilepsy/Seizures
Seizures are sudden surges of abnormal and excessive electrical activity in your brain and can affect how you appear or act.
Epilepsy is a brain disorder that causes recurring, unprovoked seizures.
1 in 26 people in the general population will develop epilepsy during their lifetime.1
Seizures are classified as either Focal Onset, Generalized Onset, or Unknown Onset, based on how and where the brain activity causing the seizure begins. Learn more about seizure classification from the Epilepsy Foundation.1
Warning signs of seizures can vary and may include sensations in the stomach, emotions such as fear, or a sense of déjà vu. Auras can also involve unusual tastes or smells, and visual disturbances like steady or flashing lights, colors, or shapes. Some individuals may experience dizziness, loss of balance, or hallucinations, seeing things that aren’t there.2
While seizure triggers don’t cause epilepsy, they can provoke seizures in individuals who already have the condition. Some people may notice that their seizures follow a certain pattern or are more likely to occur in specific situations. Recognizing and tracking these triggers can help predict when a seizure might occur, aiding in better management.
Common Triggers Include:
- Specific time of day or night
- Lack of sleep
- Illness
- Flashing bright lights or patterns
- Alcohol
- Drug Use
- Stress
- Hormonal changes, including puberty and the menstrual cycle
- Nutritional deficiencies
- Certain medications and/or missed medications
20% of patients in the Chromosome 8p Registry report experiencing seizures.
Project 8p Foundation Affiliated Research on Chromosome 8p Disorders:
While the exact prevalence of seizures in individuals with chromosome 8p rearrangements is unknown, they are recognized as a common symptom. Studies and reports provide a clearer understanding of the prevalence range, though results vary depending on the size and characteristics of the populations studied:
- Children’s Hospital Colorado reports 36% of 8p patients seen have experienced seizures.3
- A 2019 study, Clinical and genomic characterization of 8p cytogenomic disorder reported 50% of the participating patients reported seizures.4
- Trend Community Voice Report highlights seizures as the most frequently mentioned symptom, with over 300 mentions by community members between 2019 and 2023.5
Seizure onset for 8p Heroes is typically observed between ages 1 and 5, though it is important to note that this is not universally the case and can vary among patients.
Multiple seizure types have been reported in 8p, including:
- Absence Seizures – A brief and sudden lapse in consciousness, during which the individual may stare blankly for a few seconds before quickly returning to a normal state of awareness.
- Febrile Seizures – Convulsions triggered by a high fever in children.
- Tonic-Clonic Seizures – Also known as, “Grand Mal Seizures,” cause intense muscle contractions and loss of consciousness.
- Atonic Seizures – Also known as “Drop Seizures” or “Drop Attacks,” these involve a sudden loss of muscle tone, causing part or all of the body to become limp.
- Myoclonic Seizures – Brief, shock-like jerks of a muscle or a group of muscles.
Managing seizures is essential because untreated seizures can potentially cause long-term brain damage.
- Seizures/epilepsy in individuals with a Chromosome 8p Disorder are typically well controlled with a single medication.
- Seizure medications should be adjusted one at a time for optimal safety and effectiveness.
- Medication changes should be made gradually, allowing several weeks to a month for adjustments to take effect.
- More than two anti-seizure medications should be avoided, as additional medications may not reduce seizures and can increase the risk of side effects.
- Valproic acid, Levetiracetam, and Oxcarbazepine have been used successfully in managing seizures of individuals with a Chromosome 8p Disorder.
- Rescue medications like Diazepam may be considered for Chromosome 8p patients at risk for seizures.
Recommendations for Electroencephalogram (EEG) Studies:
- An EEG should be considered if seizures are suspected.
- EEG studies in Chromosome 8p patients often show abnormalities. Considering this, the timing of the EEG should be guided by symptoms or clinical concerns regarding seizure activity.
- Management of seizures and epilepsy should be primarily guided by clinical symptoms, rather than relying solely on EEG findings.
- Epilepsy Foundation. “Epilepsy and Seizures.” Available at: https://www.epilepsy.com.
- Mayo Clinic. “Epilepsy: Symptoms and Causes.” Available at: https://www.mayoclinic.org/diseases-conditions/epilepsy/symptoms-causes/syc-20350093
- Santucci, K., Malik, K. E., Angione, K., Bennink, D., Gerk, A., Mancini, D., Stringfellow, M., Dinkel, T., Demarest, S., Miele, A. S., & Saenz, M. (2024). Chromosome 8p Syndromes Clinical Presentation and Management Guidelines. Availabile At: https://project8p.org/wp-content/uploads/2024/10/Clinical-Genetics-2024-Santucci-Chromosome-8p-Syndromes-Clinical-Presentation-and-Management-Guidelines.pdf
- Okur, Volkan, Chung, Wendy et al. “Clinical and Genomic Characterization of 8p Cytogenomic Disorders.” Genetics in Medicine.Available At: https://project8p.org/wp-content/uploads/2023/08/s41436-021-01270-2.pdf.
- TREND Community. Community Voice Report: Chromosome 8p. Vol. 2, Issue 1, September 2023. Available at: https://drive.google.com/file/d/1VhzeMAA1eBi8lUlh2RwTOqm-X7dnCYKg/view
Epilepsy Foundation’s:
Brain Structure Differences
In general, the more severe the structural problems, the more severe the effect on the individual. The effects of any differences in brain structure depend on which regions of the brain are affected.
Other terms for brain structure differences are Brain Malformations, Brain Anomalies, Congenital Malformations of the Brain and Birth Defects.
Specific structural brain abnormalities that have been seen in 8p are outlined below:
- Agenesis/Hypoplasia of the Corpus Callosum – A congenital brain condition where a structure called the corpus callosum does not develop normally.
- Hydrocephalus – An abnormal buildup of cerebrospinal fluid in the ventricles of the brain.
- Ventriculomegaly – Enlargement of the ventricles of the brain.
- Microcephaly – A condition in which an individual’s head is much smaller than the heads of other individuals of the same age and sex.
- Macrocephaly – A condition in which an individual’s head is much larger than the heads of other individuals of the same age and sex.
- Cerebral/Cerebellar Atrophy – A loss of neurons (brain cells) and connections between neurons.
- Dandy–Walker – A congenital condition where the cerebellum does not develop normally.
- Intracranial Cysts – A fluid-filled sac in the brain.
27% of patients in the Chromosome 8p Registry report hypoplasia/aplasia of the corpus callosum.
Project 8p Foundation Affiliated Research on Chromosome 8p Disorders
While the exact prevalence of brain structure differences in individuals with chromosome 8p rearrangements is unknown, they are recognized as a common symptom. Studies and reports provide a clearer understanding of the prevalence range, though results vary depending on the size and characteristics of the populations studied:
- Children’s Hospital Colorado reports:
- 50% of 8p patients seen have hypoplasia/aplasia of the corpus callosum.
- 13% of 8p patients seen have ventriculomegaly.1
- A 2019 study, Clinical and genomic characterization of 8p cytogenomic disorder reported:
- 54% of the participating patients with brain imaging had hypoplasia/aplasia of the corpus callosum.
- 23% of the participating patients with brain imaging had ventriculomegaly/hydrocephalus.2
Brain Imaging Recommendations
Recommendations for Brain MRI:
Consider a brain MRI to evaluate for brain malformations if any of the following conditions are present: seizures, lack of steady growth, or focal abnormalities detected during the neurological exam. Generally, the use of contrast agents is not required to visualize the structural changes relevant for 8p, and avoiding contrast agents can prevent unnecessary radiation exposure over the lifetime of 8p heroes.
Neuroimaging for 8p Heroes:
Neuroimaging should be considered at the point of any focal neurological symptoms or evidence of craniomegaly in children under 3 years with 8p differences.
Delayed Imaging Consideration:
If there are no focal changes or concerning patterns of head growth, imaging may be deferred until approximately age 3 to reduce the risks of anesthesia and to allow the assessment of complete myelination.1
- Santucci, K., Malik, K. E., Angione, K., Bennink, D., Gerk, A., Mancini, D., Stringfellow, M., Dinkel, T., Demarest, S., Miele, A. S., & Saenz, M. (2024). Chromosome 8p Syndromes Clinical Presentation and Management Guidelines. Availabile At: https://project8p.org/wp-content/uploads/2024/10/Clinical-Genetics-2024-Santucci-Chromosome-8p-Syndromes-Clinical-Presentation-and-Management-Guidelines.pdf
- Okur, Volkan, Chung, Wendy et al. “Clinical and Genomic Characterization of 8p Cytogenomic Disorders.” Genetics in Medicine, https://project8p.org/wp-content/uploads/2023/08/s41436-021-01270-2.pdf.
Cortical Visual Impairment (CVI)
CVI is the leading cause of pediatric visual impairment in the US.1
CVI is known to affect children’s learning, especially reading abilities.
Symptoms of CVI include:
- Increased attention to bright lights or certain colors (for example, a preference for the color red)
- Delayed visual responses, reduced fixing/tracking
- Use of peripheral vision to look at objects
- Difficulty with a change in walking surfaces, for example, reaching out with the foot instead of looking at next step
- Difficulty with highly stimulating visual environments
Project 8p Foundation Affiliated Research on Chromosome 8p Disorders
While the exact prevalence of cortical visual impairment (CVI) in individuals with chromosome 8p rearrangements remains unknown, there has been a recent increase in diagnoses, indicating it may be a more common symptom than previously understood. Studies and reports provide a clearer understanding of the prevalence range, though results vary depending on the size and characteristics of the populations studied:
- Children’s Hospital Colorado reports 53% of heroes who have attended their clinic receive a CVI diagnosis.
- A 2019 study, Clinical and genomic characterization of 8p cytogenomic disorder reported that up to 55% of 8p heroes experience vision issues.4
If CVI is a concern, collaborating with both ophthalmology and neurology specialists is essential to ensure a thorough evaluation and accurate diagnosis.
When scheduling an ophthalmology appointment, inform the provider if your 8p hero may find it challenging to sit through an exam. Be direct and ask the provider to confirm whether they are able to complete the full evaluation. Pediatric specialists are experienced in working with children and can take additional steps to help ensure a successful assessment.
Standard Screening Questions:
- Does the family have concerns about vision?
- How does the patient look at things? Out of the corner of their eye or with central vision?
- How does the patient go down stairs and cross thresholds or uneven surfaces?
Screening Tools:
- Colorado Children’s Hospital recommends utilizing The CDKL5 Clinical Severity Assessment
- Visual components of the scale can be averaged together for a score 0-100 with score of 100 representing the most severe visual impairment
Treatment:
Vision therapy is recommended when there is a CVI diagnosis. Modifications for the patient can include:
- Keep the learning environment simple
- Use high contrast images
- Augmentative Alternative Communication (AAC) Devices should be set up with CVI in mind
- CVI modifications should be incorporated into all therapies
- It is recommended to consult with a Teacher of the Visually Impaired (TVI)
- Boston Children’s Hospital. Cortical Visual Impairment (CVI). https://www.childrenshospital.org/conditions/cortical-visual-impairment
- Santucci, K., Malik, K. E., Angione, K., Bennink, D., Gerk, A., Mancini, D., Stringfellow, M., Dinkel, T., Demarest, S., Miele, A. S., & Saenz, M. (2024). Chromosome 8p Syndromes Clinical Presentation and Management Guideline. Availabile At: https://project8p.org/wp-content/uploads/2024/10/Clinical-Genetics-2024-Santucci-Chromosome-8p-Syndromes-Clinical-Presentation-and-Management-Guidelines.pdf
- Okur, Volkan, Chung, Wendy et al. “Clinical and Genomic Characterization of 8p Cytogenomic Disorders.” Genetics in Medicine, https://project8p.org/wp-content/uploads/2023/08/s41436-021-01270-2.pdf.
Roman, Christine, PhD. Cortical Visual Impairment Information and Resources. CVI Resource, https://cviresources.com
CVI NOW: Perkins School for the Blind, https://www.perkins.org/cvi-now/
- What is CVI?
- How is CVI diagnosed?
- Visual Behaviors
- CVI Now IEP Guide – Perkins School for the Blind
- These 9 easy classroom adaptations can help kids with CVI
- Adapting worksheets for CVI
- How to DIY for CVI accessibility: Room-by-room projects
- EI Series:
- Complex Communication Needs
- Communication AAC
Muscle Tone
If muscle tone is too high or too low, it can affect how easily you move or hold positions.
Muscle tone is neurological, it is controlled by the brain and spinal cord, which send signals to the muscles to maintain a certain level of tension or firmness.
Muscle tone is different from muscle strength: tone is about your muscles being ready and steady, while strength is about how powerful they are when you use them.
Hypotonia means decreased muscle tone.
Symptoms of Hypotonia include:
- Generalized floppiness
- An ability to extend limbs beyond their limit
- Delay or failure to acquire motor-related developmental milestones (crawling, walking, sitting, etc).
- Feeding problems
- Difficulty with speech
Hypertonia means increased muscle tone.
Symptoms of Hypertonia include:
- A decreased range of motion
- Loss of balance
- Limited flexibility
- Difficulty with motor-movements, movements can also be slow
Project 8p Foundation Affiliated Research on Chromosome 8p Disorders
While the exact prevalence of tone differences in individuals with chromosome 8p rearrangements is unknown, they are recognized as a common symptom. Studies and reports provide a clearer understanding of the prevalence range, though results vary depending on the size and characteristics of the populations studied:
- A 2019 study, Clinical and genomic characterization of 8p cytogenomic disorder reported:
- 74% of the participating patients reported hypotonia.
- 23% of the participating patients reported hypertonia.2
Generalized or truncal hypotonia is a common neurological finding in chromosome 8p disorders.
Many patients report that hypotonia is often accompanied by hypertonia, particularly in the lower extremities.
Over time, a shift from hypotonia to hypertonia has been observed in the lower extremities of 8p Heroes, sometimes leading to contractures, which are characterized by the shortening of muscles and tissues.
Physical and Occupational Therapy can help with motor control.
Adaptive equipment, including orthotics for the ankle and foot, can help improve strength and posture.
In some cases, medication can be used for hypertonia:
- Botox Injections: Botox (botulinum toxin) is used to temporarily relax overactive muscles by blocking nerve signals, reducing spasticity and improving range of motion.
- Baclofen (Oral or Pump): Baclofen is a muscle relaxant that helps reduce spasticity. It can be administered orally or through an implanted pump for continuous delivery.
- Benzodiazepines (Other Oral Medications): Benzodiazepines, such as diazepam, are used to relieve muscle spasms and reduce spasticity by enhancing the effects of certain neurotransmitters in the brain.
- Santucci, K., Malik, K. E., Angione, K., Bennink, D., Gerk, A., Mancini, D., Stringfellow, M., Dinkel, T., Demarest, S., Miele, A. S., & Saenz, M. (2024). Chromosome 8p Syndromes Clinical Presentation and Management Guideline. Availabile At: https://project8p.org/wp-content/uploads/2024/10/Clinical-Genetics-2024-Santucci-Chromosome-8p-Syndromes-Clinical-Presentation-and-Management-Guidelines.pdf
- Okur, Volkan, Chung, Wendy et al. “Clinical and Genomic Characterization of 8p Cytogenomic Disorders.” Genetics in Medicine, https://project8p.org/wp-content/uploads/2023/08/s41436-021-01270-2.pdf.
Add your Piece to the Puzzle
Project 8p Insights Portal
To generate the visualization, please select at least one 8p genotype. You may choose multiple genotypes or select all to view insights from all 8p Heroes in the Chromosome 8p Registry.
This visualization is powered by research sponsored by Project 8p and survey data collected from the Chromosome 8p Registry, representing insights from a total of 120 8p heroes. It is part of the soon-to-launch Insights Portal, designed to offer advanced tools for data analysis, access, and visualizations, accelerating research and discovery for chromosome 8p disorders.
Last Update 10/30/2024
