CDKL5 and Teaching Strategies

CDKL5 is a neurodevelopmental disorder that includes signs of early-onset epilepsy. In fact 90% of children diagnosed with CDKL5 disorder are more likely to develop epilepsy. CDKL5 is derived from a gene and one of the most common causes of genetic epilepsy. Children diagnosed with CDKL5 also face many other developmental challenges as well.

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Facts

It is a neurodevelopment disease caused by the CDKL5 gene.

It impacts cognitive, motor, speech and visual function

It affects 1 in 40,000-60,000 children each year.

CDKL5 was previously called STK9

The disorder mainly affects females

The cause of CDKL5 deficiency disorder is unknown

Signs of CDKL5 deficiency includes epileptic seizures

Starting within hours of birth to 2 years of life, some children often go for 24 hours or more without sleeping.

Signs and Symptoms of CDKL5
Teaching Strategies

The following are teaching strategies that can used when teaching children with the CDKL5 disorder:

  • Provide frequent breaks
  • Use assistive technology
  • Provide extra time
  • Repeat directions
  • Use concrete items when possible
  • Break task into smaller steps
  • Teach in sequence
  • Use a multisensory approach
  • Use hand-on material

 

Children's Hospital.org
Genetic Home Reference
International Foundation for CDKL5 Research
Rare Diseases.org

 

 

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Intellectual Disabilities And Epilepsy

According to the Epilepsy Foundation, epilepsy is the fourth most common neurological disorder and affects people of all ages. In fact, 1 in 26 people have seizures and while people who are diagnosed with epilepsy may have no other problems, this is not the case for children and adults with an intellectual and developmental disability where the rates are much higher.

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It is estimated that 30% of children with epilepsy also have another type of disability. Some studies show that children with an intellectual disability and cerebral palsy, had a 35% chance of developing epilepsy, children with an intellectual disability alone had an 8% chance and children with a brain injury occurring after birth stood a 75% chance of developing epilepsy. Statistically, the risky of a child with a developmental disability experiencing an unprovoked seizure by age 5 is 4 times likely than the general population. It is estimated 1.8% of U.S. adults have epilepsy compared to 22% among people with intellectual disabilities.

People with intellectual disabilities tend to also have worse prognosis with adults having a higher rate of death including Sudden Unexplained Death In Epilepsy (SUDEP).

Epilepsy

Epilepsy is a chronic disorder with recurrent unprovoked seizures. According tot he National Institute of Neurological Disorders and Stroke (NINDS), epilepsys are a spectrum of brain disorders ranging from severe, life-threatening to ones that are more benign. The International League Against Epilepsy created a new definition of epilepsy. A person is considered to have epilepsy if they meet any of the following conditions:

  1. At least two provoked (or reflex) seizures occurring greater than 24 hours apart.
  2. One Unprovoked (or reflex) seizure and a probability of further seizures similar to the general recurrence risk (at least 60%) after two unprovoked seizures, occurring over the next 10 years.
  3. Diagnosis of an epilepsy syndrome

A seizure is defined as an event and epilepsy is the disease involving recurrent unprovoked seizures.

Intellectual Disability

According to DSM-5, an intellectual disability is a disorder with onset during the developmental period that includes both intellectual and adaptive functioning deficits in conceptual social, and practical domains including deficits in intellectual functions such as reasoning, problem-solving, planning, abstract thinking, judgment, academic learning and learning from experiences.  The severity levels range from mild to profound.

Although there is a high relationship between epilepsy and an intellectual disability, little research has been conducted on safe prescribing practices of an antiepileptic drugs for people with intellectual disabilities. What is known about epilepsy and an intellectual disability is that more severe disabilities are typically caused by damage to the brain

Why is it important to discuss?

Given the large number of people with an intellectual disability and epilepsy, treatment may be more complicated due to multiple impairments including people with a diagnosis of autism, intellectual disability and epilepsy. More research needs to occur which will help to reduce morbidity rates and help to develop accurate guidelines.

What is a Generalized Seizure?

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A generalized seizure, formally known as a gran mal seizure affects both sides of the brain, and starts in all parts of the brain at the same time. About 25 percent of people with epilepsy have generalized seizures. It affects all ages, socioeconomic and racial groups.

There are 4 phases of a generalized seizure:

  1. Prodromal. This is the first phase where an early sign may include a group of symptoms hours or days before the seizure including depression, difficulty concentrating, headaches, insomnia and mood changes.
  2. Aura. Typically, an aura occurs from a few seconds to a few minutes before the arrival of the seizure. Signs may include blurry vision, buzzing, ringing or an abdominal sensation.
  3. Tonic-Clonic. This is the phase where the whole body is affected. The body begins to stiffen and the person loses consciousness and falls. This is followed by a violent uncontrollable shaking. During this phase, the person may have difficulty breathing, an inability to swallow, may drool and begin to sweat.
  4. Postictal. Occurs at the end of the seizure, common signs include confusion, anxiety, depression, embarrassment, fear, memory loss, upset stomach and sleepiness.
There are 6 types of generalized seizures:
  1. Absence (Petit Mal). It occurs throughout the entire brain beginning and ending very quickly. The person becomes unconscious with a blank stare. It may appear the person is day dreaming.
  2. Tonic-Clonic. When the body stiffens and shakes. usually last 1 to 3 minutes.
  3. Clonic. When a person has a muscle spasm in the face, neck and arms may last several minutes.
  4. Tonic. The muscles in the arms, legs and trunk are affected. Usually last less than 20 seconds.
  5. Atonic. the muscles go limp and can cause a person to fall or head his or her head if they are standing.
  6. Myoclonic. Muscles suddenly jerk. The electrical impulses are strong enough to throw a person to the ground.
What Causes Epilepsy with Generalized Seizures?
Possible causes of epilepsy and seizures include:
  • genetics
  • a change in the structure of your brain
  • autism
  • an infections of the brain, such as meningitis or encephalitis
  • head trauma
  • a brain tumor
  • Alzheimer’s disease
  • a stroke, or a loss of blood flow to the brain resulting in brain cell death
  • congenital conditions, including Down syndrome or tuberous sclerosis

First Aid For Tonic Clonic Seizures:

Call 911 if:
  • The person has never had a seizure before.
  • the person has difficulty breathing or waking after the seizure.
  • The seizure lasts longer than 5 minutes.
  • The person has a seizure back-to back.
  • The person is injured during the seizure.
  • The person has an additional condition like diabetes, or heart disease.
Steps
  • Ease the person to the floor.
  • Turn the person gently onto the side (this will help the person breathe).
  • Clear the area around the person of anything hard or sharp
  • Put something soft and flat, like a folded jacket, under his or her head.
  • Loosen ties or anything around the neck including button on a shirt.
  • Time the seizure.
Familiarize Yourself With The Warning Signs 

Each person is different. Typically warning signs of a seizure may include:

  • Loss of consciousness
  • Stiffening of the body
  • Jerking of limbs
  • Slight twitching
  • A loss of awareness
Do Not:
  • Do not hold the person down or try to stop his or her movements.
  • Do not put anything in the person’s mouth. This can injure teeth or the jaw. A person having a seizure cannot swallow his or her tongue.
  • Do not try to give mouth-to-mouth breaths (CPR). People usually start breathing again on their own after a seizure.
  • Do not offer the person water or food until he or she is fully alert.

After the seizure:

After the seizure ends, the person will probably be groggy and tired. He or she also may have a headache and be confused or embarrassed. Try to help the person find a place to rest. If necessary, offer to call a taxi, a friend, or a relative to help the person get home safely.

Don’t try to stop the person from wandering unless he or she is in danger.

Don’t shake the person or shout.

Stay with the person until he or she is completely alert.

 

Resources

Epilepsy Ontario

Epilepsy Talk

Healthline

University of Chicago Medicine

WebMD

New screening tool can improve the quality of life for epilepsy patients with sleep apnea

Published by: Medical Xpress

Rutgers researchers have developed a tool to help neurologists screen for obstructive sleep apnea in people with epilepsy whose seizures can be magnified by sleep disorders.

The study appears in the journal Neurology Clinical Practice.

Although detection and treatment of obstructive sleep apnea (OSA) can improve seizure control in some patients with epilepsy, providers have not regularly assessed patients for those risk factors. The researchers developed an electronic health record alert for neurologists to evaluate a patient’s need for a sleep study.

This study can determine the necessity for treatment, which can result in improved seizure control, reduction in antiepileptic medications and reduce the risk of sudden unexpected death in epilepsy. Click here to read the rest of the story

Epilepsy and Autism: What You Need To Know

Studies show that epilepsy are more common in individuals with autism than the general population. Studies show that in some cases, 20% of people diagnosed with autism also have an epilepsy disorder. Other studies indicate epilepsy prevalence estimates between 5% to 46%.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder that impacts social, speech, behavioral and motor skills. It is a spectrum disorder meaning it varies from person to person. No two people have the same symptoms. It is estimated that 1% of the population is diagnosed with autism.

Epilepsy is a brain disorder which occurs when neurons in the brain experience a brief interruption causing a seizure to occur. Seizures vary from mild to severe and affects over 3 million Americans. There are different types of seizures:

  • Generalized Tonic/Clonic- A seizures where the whole brain is affected.
  • Absence Seizures- Generally start without any warnings. It affects children and last only for a few seconds.
  • Myoclonic Seizures- Are abrupt jerks of the muscle groups which originate from the spine.
  • Partial Seizures- The person may look as though he or she is in a trance.

There are many unanswered questions as to why epilepsy is more common in people with autism. There is some evidence the common underlying cause may be both are related to genetic and environmental causes and are both related to some type of brain disorder. Evidence does shoe however individuals with autism and epilepsy have worse behavioral and social outcomes than individuals diagnosed with autism only including issues with motor and daily living skills.

Signs for parents to look out for
  • May be difficult to determine especially in children diagnosed with severe autism spectrum disorder. Red flags include, staring episodes, stiffening of the body and shaking movements.
  • A medical evaluation will include brain imaging and an electroencephalogram (EEG).
Teaching Strategies

If you are an educator, be aware that after a seizure, the student will become tired. Allow the student an opportunity to rest.

Reference

Epilepsy Foundation

Medical News Today: Epilepsy and autism: Is there a link?

Neurologist Disorder Treatment. Epilepsy in patients with autism: Links, risks and treatment challenges. Frank McBesag- Published online 2017 Dec 18

Synapse- Autistic Spectrum Disorder Factsheet

 

What is a Non-Epileptic Seizure?

Did you know that there are seizures that are not due to epilepsy? Since November is Epilepsy Awareness Month, I thought this would be a great opportunity to share information on non-epileptic seizures. It is especially important to know about non-epileptic seizures since 1 in 5 people diagnosed are later found to have non-epileptic seizures.

What is a Non-Epileptic Seizure?

A non-epileptic seizure displays characteristics similar to epilepsy seizures by mimicking similar signs and symptoms including control over their body through shaking movements, blacking out and falling. From the outside, the signs look similar however, the causes are quite different. Non-epileptic seizures, also known as non-epileptic attack disorders (NEAD) tend to resemble a seizure however, they are not caused by electrical impulses in the brain, rather it may be due to an overload of stress including a death in the family, abuse and past painful experiences, causing some to have difficulty handling thoughts and memories in the brain.

What are the Signs and Symptoms?

While the signs differ for each person, a common sign mirrors tonic-clonic seizures involving similar movement including the shaking of the arms, legs and head. Small differences include the person tends to have their eyes closed during the attack which generally last longer than an epileptic seizure.

Who is likely to have a non-epileptic seizure?

Although non-epilepsy seizures can occur to anyone, at any age, studies found people with non-epileptic seizures are:

  • More common in women
  • More common in people experiencing depression and anxiety
  • Likely to occur to people who experience an emotional, stressful event
  • More likely to start in young adults.
Diagnosing Non-Epileptic Seizures

The most effective way for neurologist to diagnose a non-epileptic seizure is through a series of test including personal history, medical history and an electroencephalogram (EEG) used to detect abnormal electrical discharges (would not show up in a person diagnosed with non-epileptic seizures).

Treatment

Treatment is based on the cause of the seizures. Options may include:

  • Medication (antidepressants)
  • psychotherapy
  • Cognitive Behavior Therapy (CBT)
  • Counseling
References

Cleveland Clinic

Epilepsy.org.uk

Non-Epileptic Attacks.Info

Wikipedia

 

Children and Ring Chromosome 20 Syndrome

What is Ring Chromosome 20 Syndrome?

Ring Chromosome 20 Syndrome is a chromosomal disorder that is the result of a ring that develops when a chromosome breaks in two places and the short arm of a chromosome has merged with the tip of the long arm.

This anomaly causes recurrent seizures during childhood. It is reported that the seizure can occur at anytime from during the day time to sleeping at night, it is very rare. In fact only 50 cases have been reported in research journals. However, this form of epilepsy can occur from birth to 17 years old.

What makes this rare form of seizures unique is that it does not respond to anti-epileptic medication. Vagus Nerve Stimulation (VNS) tends to be successful as well as the Ketogenic diet in reducing the number of seizures.

Children diagnosed with Ring Chromosome 20 Syndrome typically experience several types of seizures including:

  • Focal seizure
  • Non-convulsive status epilepticus
  • Frontal lobe seizures
  • Tonic seizures
  • Generalized tonic-clonic seizures
Signs and Symptoms

Children with Ring Chromosome 20 Syndrome generally face challenges in the area of behavioral, learning disabilities and intellectual disabilities. In some instances, children may display physical characteristics including slow growth, short stature and a small size head.

Signs and Symptoms of Intellectual Disability
  • Decrease learning ability
  • Delays in crawling
  • Difficulty solving problems
  • Lack of curiosity
  • Language and speech delays
  • Poor motor skills
  • Short attention span
Teaching Strategies
  • Use short and simple sentences
  • Repeat directions
  • use strategies for remembering such as clustering information together
  • Provide immediate feedback
Signs and Symptoms of learning disabilities
  • Difficulty recognizing non-verbal cues such as facial expression
  • Fine motor skills difficulty
  • Weak visual discrimination abilities.
Teaching Strategies
  • Use a multi-sensory approach
  • Break into small steps
  • use probing techniques
  • use diagrams and pictures.
References

Genetics Home Reference

Rare Chromosome Organization

Wikipedia

Epilepsy Seizures May Promote Autism Symptoms in Angleman Syndrome, Study Finds

Epilepsy Seizures May Promote Autism Symptoms in Angelman Syndrome, Study Finds
Written by: Patricia Inacio. Ph.d
Published by: Angelman Syndrome News

Epileptic seizures contribute more than previously thought to autism symptoms in patients with Angelman syndrome, according to researchers.

The study, “Effect of epilepsy on autism symptoms in Angelman syndrome,” was published in the journal Molecular Autism. Autism and epilepsy often co-occur in patients with Angelman syndrome, but the extent to which the association between autism symptoms and epilepsy is due to shared aetiology or to the direct effects of seizures was unclear. Click here to the rest of the story.

Helping Children Understand Person First Language


Pubished by: ASD
Written By: Nicole Dezarn

Person first language is an important ethical matter often discussed in the field of special education and disability advocacy. The idea that the important descriptor for a person is not their disability but that the disability is something that the person has is fundamental in framing the mindset that having a disability doesn’t mean that a person is less or incapable of success. It can be challenging enough to broach this subject with adults but how do we help children to understand what person first language means and why it is so important? I felt it might be helpful to share an approach with which I have had success. Click here to read the rest of the story

Epilepsy Driving and State Regulations

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Driving can be challenging for people who have a seizure disorder. Accidents may occur due to a seizure disorder which puts the person at risk. In the United States, each State has specific guidelines and laws on the requirement for driving once the person is seizure-free.

Most people are able to drive again once their seizures are under control. In some States, a letter from the doctor is required. Below are regulations for each State:

State Regulations

Alabama- 6 Months with exceptions

Alaska- 6 Months

Arizona- 3 Months with exceptions

Arkansas- 1 year

California- 3, 6 moths with exception

Colorado- No set seizure- free period

Connecticut- Not set seizure- free period

Delaware- Not set seizure- free period

District of Columbia- 1 year

Florida- Upon Doctor’s recommendation

Georgia- 6 Months

Hawaii- 6 months with exception

Idaho- 6 months with strong recommendation from doctor

Illinois- No set seizure- free period

Iowa- 6 months less if seizure nocturnal

Kansas- 6 months less if seizure nocturnal

Kentucky- 90 days

Louisiana- 6 months with doctor statement

Maine- 3 months or longer

Maryland- No set seizure- free period

Massachusetts- 6 months- less with doctor statement

Michigan- 6 months- less at discretion of department

Minnesota- 6 months with exception

Mississippi- 1 year

Missouri- 6 months with doctor recommendation

Montana- No set seizure- free period, doctor recommendation

Nebraska- 3 months

Nevada- 3 months with exception

New Hampshire- 1 year/ less- discretion of the department

New Jersey- 1 year: less on recommendation of committee

New Mexico- 1 year, less on recommendation of advisory board

New York- 1 year with exception

North Carolina- 6-12, with exception

North Dakota- 6 months, restricted license possible after 3 months

Ohio- No set seizure free period

Oklahoma- 6 months

Oregon- 6 months with exception

Pennsylvania-  6 months with exception

Puerto Rico- No set seizure- free period

Rhode Island- 18 months. Less with doctor recommendation

South Carolina- 6 months

South Dakota- 6-12 months less with doctor recommendation

Tennessee- 6 months with acceptable medical form

Texas- 6 months with doctor recommendation

Utah- 3 months

Vermont- No set seizure – free period

Virginia – 6 months with exception

Washington- 6 months with exception

West Virginia- 1 year with exception

Wisconsin- 3 months, with acceptable medical form

Wyoming- 3 months