Seizure Burden (Seizure Count)

Every child with KCNT1-related epilepsy is unique and there is no single treatment that is right for everyone. However, some treatments are worth specifically considering and discussing. Ketogenic diet: this is a high fat, low carbohydrate diet that is often reported as one of the most effective treatments to reduce seizures. However, it doesn’t work for everyone. QUINIDINE: Some patients have had a very good response to quinidine. However, there are substantial side effects including the risk of cardiac arrythmias, and the majority of patients do not respond. Many older patients do not tolerate it because of cardiac side effects. CBD & EPIDIOLEX: CBD has been really helpful for some kids with treatment resistant epilepsy. Epidiolex is preferred over CBD oil preparations or CBD/THC products as it is more predictable and can be covered by insurance. Other typical medications often used include Keppra, Clobazam, Topamax, and Zonisamide. For more on Keto diet see this link.

Focal Seizures

Phenotypes Affected: EIMFS but can be others

Focal seizures may respond to Trileptal (Oxcarbazepine), lacosamide, or lamotrigine. A new medication called cenobamate may also be helpful, though there is limited data so far.

Seizures that occur when falling alseep or shortly thereafter

Phenotypes Affected: More often in ADNFLE but can be in others

Seizures occurring when falling asleep or during sleep is especially likely in the kids with the ADNFLE/SHE phenotype, but even in kids with EIMFS it's quite common that seizures occur very shortly after sleep. Sometimes changing the schedule of seizure medications to give a dose shortly before bedtime can be helpful.

Infantile Spasms

Phenotypes Affected: More often in EIMFS and EOEE

Infantile spasms is a seizure type consisting of repetitive clusters of whole-body flexion or extension; it can look like the infant is trying to do abdominal crunches. Typically, infantile spasms is treated with steroids or Vigabatrin. Vigabatrin is often an effective treatment for infantile spasms in children with KCNT1, but it does have the potential side effect of peripheral vision loss.

Care Team: Neurologist/epileptologist

Feeding Problems

Phenotypes Affected: All

Feeding problems are common, and many children cannot maintain their nutritional needs without support. Work with a GI doctor and/or nutritionist to help maximize nutrition and feeding. Getting a feeding tube can be very scary, but it can also be very helpful for nutrition and also helps ensure you can get meds in safely. If a feeding tube is necessary, consider either a gastrojejunostomy (GJ) tube which allows feeding directly into the intestine, or a Nissen fundoplication to help prevent reflux. Work with a speech therapist early to identify and prevent aspiration.

Care team: Gastrointestinal doctor, speech therapist, nutritionist

Oral Health and Secretions

Drooling and problems handling secretions can be an issue. If this is causing breathing problems, a pulmonologist may be helpful. Delayed tooth eruption and dental problems are relatively common, we do recommend seeing a dentist regularly. Some patients have relief from hyosien patch or Glycopyrrolate.

Care Team: Dentist, respiratory therapist

What Parents Say: Caregivers should work with their medical team to acquire portable suction machines with a variety of attachments to aid in secretion control to limit the risk of aspiration. Ask about specialized attachments for nasal, oral, and deep respiratory suctioning. Request proper training, particularly for deep respiratory suctioning to avoid injury and maximize effectiveness. Gum massage techniques can also help teeth cut through faster. Prolonged teething often worsens secretion issues. Whatever the cause, there are variety of medications (robinol) procedures (botox), and surgeries (gland removal) that can be used to reduce secretion production.

Slow gastric emptying, constipation

Phenotypes Affected: All

Slow gastric emptying and constipation are both common. Work with your pediatrician and GI doctor to help find the right combination of food and medicine to help with these issues.

Care team: Gastrointestinal doctor, dietician, nutritionist, pediatrician

What Parents Say: If your child is fed via a g-tube of g-jtube then Ferrel valve bags and manual venting may be useful to prevent discomfort and vomiting. Slow continuous feeds via gravity bags or motorized feeding pumps are also useful for providing nutrition without overwhelming your Childs slow moving digest system.

Cardiac Issues

Phenotypes Affected: EIMFS, EOEE & ADNFLE

About one out of every 10 patients with early KCNT1 related epilepsy may have issues with abnormal blood vessels going from the heart to the lungs called major aortopulmonary collaterals (MAPCAs). If these are present they must be monitored carefully. There also may be a higher rate of cardiac arrythmias. Get an initial cardiology evaluation to look for arrhythmias and look for abnormal pulmonary vascular collaterals. If things are fine at that initial visit, most people don't need to see a cardiologist regularly. If your child ever cough up blood go the ER and ask them to look for pulmonary collaterals that may need to be repaired.

Lungs and Breathing Issues

Phenotypes Affected: EIMFS & EOEE

Many patients with early onset KCNT1-related epilepsy can have breathing issues, including reactive airway disease and aspiration pneumonia. Caregivers should work with a speech therapist early to prevent and identify aspiration, to help prevent any lung problems. Patients with breathing issues should be followed by pulmonologist.

What Parents Say: Caregivers should work with their medical team to acquire portable suction machines with a variety of attachments to aid in secretion control to limit the risk of aspiration. Ask about specialized attachments for nasal, oral, and deep respiratory suctioning. Request proper training, particularly for deep respiratory suctioning to avoid injury and maximize effectiveness. Parents should also inquire about training to perform proper chest physical therapy, which can be used to treat aspiration events and help prevent pneumonia and other complications. Specialized equipment, such as percussion vests and manual “thumpers” are available and caregivers should ask their medical team about obtaining the right tools for home care. Nebulizers may also be an important part of home care for patients withongoing pulmonary issues. A variety of options exist for administering oxygen at home and caregivers should ask about oxygen condensers, and oxygen tanks of various sizes. if your child requires oxygen it is advisable to have both masks and nasal cannulas so that 02 can be properly given as needed. C-pap bags should be kept on hand in the event of acute respiratory failure.

Care team : pulmonologist, speech pathologist and respiratory therapist.

Tone, motor control, spasticity, and scoliosis

Regular physical and occupational therapy in early life is very important including therapies that involve early weight-bearing. This might involve things like a gait trainer or a stander and this can help with bone health children. With early onset KCNT1 related epilepsy, children often start out very hypotonic (floppy), in the first year of life. They then often develop spasticity after that. Being aware if spasticity is starting to develop, and then working with the therapist and your neurologist to address that can be very helpful. Particularly with early onset KCNT1, consistency of therapy is probably more important than doing long intensive therapies because kids can't necessarily participate a whole lot in intensive therapy sessions. So just having that consistent access to therapy is probably more important.

Care team: A physical medicine specialist can help with some of the issues like spasticity and help guide what the approach is for rehabilitation: physical therapists, occupational therapists, and speech therapists. A neurologist and a physical medicine specialist can help guide the therapy team. Orthopedist for patients who are experiencing either significant spasticity or scoliosis, then an orthopedistcan be very helpful.

What Parents Say: Depending on your child's abilities adaptive standers, gait trainers, adaptive chairs, braces, supports, bed, and mobility devices may be required. Often, children will require at least a stander, adaptive chair/stroller combo, a bath chair. There are numerous brand options all with various strengths and shortcomings. You should discuss specific options with your medical team.

Urinary tract issues and kidney stones

Patients may have issues with urinary retention, urinary tract infections, and kidney stones. This can be more common with certain medications; for instance, clobazam (onfi) can be associated with urinary retention, and topiramate (topamax) can cause kidney stones. The ketogenic diet can also cause kidney stones. If your child develops these issues, work with your neurologist to identify medications that might be contributing, and you may also need to work with a nephrologist or urologist. Care Team: Neurologist, nephrologist or Urologist

What Parents Say: Caregivers should ask about bladder massage techniques, and diet/hydration modifications that may help with these issues.Citric Acid Oral Solution may be prescribed to prevent kidney stones.

Bone Health

Some patients have significant issues with bone health, with bones being more fragile resulting in pathologic fractures or scoliosis. Working with an endocrinologist on maximizing bone health can be very helpful. There can be a link between the ketogenic diet and bone loss, if you are not monitoring carefully what you're getting in the diet and making sure that calcium and vitamin D levels are optimized. Weight-bearing activities and devices such as standers or a gait trainer can be helpful. See article link

Care Team: Endocrinologist, physical therapist, orthopedist

Cortical Visual Impairment (CVI)

It can be difficult to sort out the degree of vision impairment children have, especially if they are very affected by seizures or if they can't communicate very well. But some degree of central visual impairment is fairly common in KCNT1. One study showed as children got older their vision seemed to improve, and they had improvements in tracking and this seemed to correlate with seizure control. It's difficult to know much of the visual impairment is driven by poor sensory processing or seizures that are interfering with visual processing. Get an assessment to see what phase your child is in so appropriate therapies can be developed with appropriate contrasts,colors,etc.

Care Team: Neuro-ophthalmologist or potentially a neurologist with expertise in vision.

What Parents Say: Having your child properly diagnosed with CVI is often important for accessing different Federal and State benefits and services. There are an enormous range of vision therapy devices and toys that you can find to help improve your child's visual abilities and enrich their lives. Light boxes, light projectors, and sensory boards are common equipment. If not covered by insurance, non-medical substitutes are easily found. To learn more about CVI see this webinar

Pain

Sometimes it can be hard to identify the cause of pain. Some common causes of pain are: reflux, ear infections, kidney stones(especially for patients who are on Topamax, which can trigger kidney stones). Spasticity or positioning can also cause skin injuries and be a source of irritability. If all these kinds of medical causes of pain have been ruled out, then sometimes Gabapentin can be helpful. Gabapentin is often used for what's called neuropathic pain. It's also used in a variety of different chronic pain syndromes.

Care Team: Neurologist

Irritability (Uncontrollable crying)

See pain. Gabapentin is a relatively weak anti-epileptic drug but does have some anti-seizure effect. It is often used as for what's called neuropathic pain or also it's also used in a variety of different chronic pain syndromes and it sometimes can be helpful for irritability. And it is mildly sedating. It might be used, especially if kids are irritable when they're trying to go to sleep.

Care Team: Neurologist

Communication, Speech and Language

Gene mutations and/or severe seizures can cause neurological impairments that negatively affect the typical development of speech and language. Sedating medications, muscle weakness, hearing or vision loss can further impact an infant's ability to interact with the world around them. Thus, communication skills can be slow to develop, and parents may find it difficult to engage with their child. But parents are encouraged to presume potential in their child and continue to provide language stimulation activities, songs, and play routines, and be cognizant of subtle eye gazes, facial expressions, sounds, body postures and other signs of communication. It is innate for humans to communicate, even young infants, and even severely disabled infants. Work with speech pathologists, occupational therapists, physical therapists and behavioral therapists to identify potential communication signals; capture, cultivate and shape any potential communication signals. Many low tech and high tech augmentative devices can be considered. See the webinar recording Fostering Communication for more ideas.

Care Team: Neurologist, pediatrician, speech pathologist, behavioral therapist, occupational therapist

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