Epilepsy/Seizures
Seizure activity is frequently reported in individuals with chromosome 8p disorders.
Understanding 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 will develop epilepsy during their lifetime.
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Multiple seizure types have been reported, including absence seizures, febrile seizures, tonic-clonic seizures, atonic seizures, and myoclonic seizures.
Seizure onset 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.
Management and Care Recommendations
Medication Management:
- Seizures/epilepsy is typically well controlled with a single medication.
- Adjust seizure medications one at a time for optimal safety and effectiveness.
- Make adjustments slowly, allowing several weeks to a month for changes to take effect.
- Avoid using more than two anti-seizure medications, as adding more may not reduce seizures and can increase the risk of side effects.
- Medications used with success have been: Valproic acid, Levetiracetam, and Oxcarbazepine.
- A prescription for, rescue medication (Diazepam) can be considered for 8p heroes with a risk for seizures.
Recommendations for Electroencephalogram (EEG) Studies:
- Consider an EEG if seizures are suspected.
- 8p Hero EEG studies will often show abnormalities, however it is recommended that the timing of the study be based on symptoms or clinical concerns for seizure activity.
- Management of seizures and epilepsy should be primarily guided by clinical symptoms rather than relying solely on EEG findings.
Brain Structure Differences
Structural brain abnormalities are frequently reported in individuals with chromosome 8p disorders.
Understanding Brain Structure Differences
Brain structure abnormalities are conditions in which the brain has not formed properly during pregnancy.
In general, the more severe the structural problems, the more severe the effect on the individual.
Common terms for brain structure differences are: Brain Malformations, Brain Anomalies, Congenital Malformations of the Brain and Birth Defects.
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Agenesis/Hypoplasia of the Corpus Callosum: is the most common abnormality observed and typically does not require surgical intervention.
Hydrocephalus/Ventriculomegaly: has been reported, but is usually mild and benign, this condition rarely necessitates shunt placement.
Management and Care Recommendations
Recommendations for Brain MRI:
Consider a brain MRI (without contrast) 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.
Neuroimaging for Young Children:
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 not 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.
Cortical Visual Impairment (CVI)
CVI is increasingly being diagnosed as a common neurological finding in chromosome 8p disorders.
Understanding Cortical Visual Impairment
Visual dysfunction caused by damage to or impaired functioning of cortical structures, despite intact ocular structure and function.
Now the leading cause of pediatric visual impairment in the US.
Affects 3% of children in the general population and 10% of children with developmental delay.
CVI is known to affect children’s learning, especially reading abilities.
Symptoms of CVI:
- Increased attention to bright lights or certain colors (red)
- Delayed visual responses, reduced fixing/tracking
- Use of peripheral vision to look at objects
- Difficulty with change in walking surfaces,reach out with foot instead of looking at next step
- Difficulty with busy visual environments
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“Vision Issues” have been reported to be as high as 55% in 8p Heroes
Colorado Children’s Hospital’s Multidisciplinary Neurogenetic Clinic reports 53% of heroes who have attended their clinic receive a CVI diagnosis.
Management and Care Recommendations
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
Muscle Tone
Tone
Understanding Muscle Tone
Muscle tone refers to the natural tension in your muscles that helps your body maintain posture and control movements.
If muscle tone is too high or too low, it can affect how easily you move or hold positions.
Muscle tone is neurological, 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
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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.
Management and Care Recommendations
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 to to treat 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.
