Category Archives: Epilepsy

Angleman Syndrome and Adulthood

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Angelman syndrome is a genetic disorder that affects the nervous system. Characteristics include developmental delays, intellectual disabilities, epilepsy, short attention span, hyperactivity, hand flapping and speech impairments. It is a rare disorder that affects 1 in 12,000 to 20,000 a year. there are less than 200,000 cases a year and affects all ethnicities and sexes equally.

Typically, there is a severe developmental delay and learning disability as well as near absence of speech and ataxia including ataxia including jerky movements of the arms and legs. People with Angelman syndrome generally have a happy demeanor and an inappropriate laughter.

Life expectancy appears to be normal. As people with Angelman syndrome age, scoliosis tends to worsen and for many people born with epilepsy, there are cases where seizures stop, however, they tend to return as the person gets older.

 

Due to cognitive and medical needs, a person with Angelman syndrome will always require support. Most people with Angelman syndrome attend a day habilitation setting. Support should include

  • staff trained on identifying seizures and providing assistance
  • programs that support the person’s short attention span
  • evaluation for a communication device or a means to communicate
  • support for self-injurious behavior

The following are resources and articles on Angelman syndrome and adulthood

Angelman Syndrome and Obesity (Angelman Syndrome) A 2017 study reporting on a third of Angelman syndrome patients were overweight or obese.

Angelman Syndrome in Adults– (Angelman Syndrome News). An article that describes signs and symptoms of individuals with Angelman Syndrome as they approach adulthood

Anxiety in Angelman Syndrome (Angelman Syndrome News). A topic on anxiety which is commonly observed in individuals with Angelman syndrome including information on triggers and ways to manage anxiety.

AS in Adulthood (AngelmanUKorg). A website describing the transition to adulthood and issues affecting people with Angelman syndrome.

Dental Problems in Angelman Syndrome (Angelman Syndrome News). Information on how people with Angelman Syndrome may be affected and possible treatment plans.

Transitioning to Adulthood Checklist. Created by the Angelman Syndrome Foundation, provides a 4-page checklist resource for students preparing to transition out of school.

37 Helpful Epilepsy Resources

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November is Epilepsy Awareness Month!

Epilepsy Facts

  • It is the 3rd most common neurological disorder in the United States
  • 2.7 million Americans have epilepsy
  • 468,000 are children 0-17
  • 50 million people have epilepsy worldwide
  • 1 in 26 people have epilepsy in their lifetime
  • 200,000 people in the United States will be diagnosed with epilepsy this year

The following links include information on symptoms, causes, complications, definition, types of seizures, and treatment:

Medical

Boston Children’s Hospital- Epilepsy Center
Cleveland Clinic-Epilepsy Center
e-medicine health
Everyday Health
FamilyDoctor.org
Healthline
Kids Health
Live Science
Mayo Clinic
Medline Plus
Neuroscience for Kids
WebMD
World Heath Organization (WHO)

Organizations and Foundations

 American Epilepsy Society

Promotes research and education for professionals dedicated to the prevention, treatment and cure of epilepsy.

 Citizens United for Research in Epilepsy (CURE)

Cure’s mission is to cure epilepsy, transforming and saving millions of lives. Also identifies and funds research.

 Dravet Syndrome Foundation

Raises funds for research and increase awareness and provides support to individuals and families.

 Epilepsy Canada

Mission is to enhance the quality of life for persons affected by epilepsy through promotion and support of research and facilitation of education and awareness.

Image result for epilepsy foundation Epilepsy Foundation

National Voluntary agency dedicated solely to the welfare of more than 2 million people with epilepsy in the United States and their families.

 Epilepsy Research UK
A charity funding research into epilepsy, provides information about the condition and therapies, and their activities.
 Hope for Hypothalamic Hamartomas

A volunteer-based organization. The goal is to create information about the diagnosis, treatment, and support of individuals with HH.

 Intractable Childhood Epilepsy Alliance

Dedicated to improving lives of children affected by intractable epilepsy through evidence-based information and advocacy.

 Lennox-Gastaut Syndrome Foundation

Non-profit organization dedicated to improving the lives of individuals with Lennox-Gastaut Syndrome through research, programs and education.

  National Association of Epilepsy Centers

Strives to make high quality care available and affordable for epilepsy patients

Twitter -Keep up with the latest twitter feed or follow organizations that provide current information on epilepsy:

EPIC Long Island– Our very own non-profit organization of the month. Provides services for individuals with epilepsy and other disorders
Epilepsy Action– Leading member-led epilepsy charity providing information for people with epilepsy
Epilepsy Awareness– provides epilepsy training services to help raise standards and promote best practices.
My Epilepsy Team– Social network for people living with Epilepsy
Young Epilepsy– National charity working exclusively with children and young people in the UK

YouTube Video’s

Books on Epilepsy

Epilepsy: A patient and family guide

Epilepsy in Children: What every parent needs to know

Epilepsy 101: The ultimate guide for patients and families

Living well with epilepsy and other seizure disorders

Mommy, I feel funny! A child’s experience with epilepsy

 

 

 

 

What To Do When Someone Has A Seizure

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Over a lifetime, 1 in 26 people will be diagnosed with epilepsy. More than 30% of people with epilepsy will experience generalized seizures. When providing first aid for seizures, try to keep calm and make sure the person having the seizure is comfortable and safe from harm.

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.
  • 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.

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.

Source: Centers for Disease Control and Prevention

Source: National Institute of Neurological Disorders and Stroke

36 Epilepsy Facts You Should Know

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Epilepsy is a disorder of the central nervous system often caused by abnormal electrical discharges that develop into seizures. The following are additional facts on epilepsy and seizures:

  1. More people live with epilepsy than autism, spectrum disorders, Parkinson’s disease, multiple sclerosis and cerebral palsy combined.
  2. You can’t swallow your tongue during a seizure. It is physically impossible.
  3. You should never force something into the mouth of someone having a seizure.
  4. Don’t restrain someone having a seizure.
  5. Epilepsy is not contagious .
  6. Anyone can develop epilepsy.
  7. Epilepsy is not rare.
  8. 1 in 26 Americans will develop epilepsy in their lifetime.
  9. An estimated 3 million Americans and 65 million people worldwide live with epilepsy.
  10. In 2/3 of patients diagnosed with epilepsy, the cause is unknown.
  11. Up to 50,000 deaths occur annually in the U.S. from status epilepticus (prolonged seizures). (SUDEP) and other seizure-related causes such as drowning and other accidents.
  12. Between 4 and 10 out of 1,000 people on earth live with active seizures.
  13. 3.4 million people in the United States have epilepsy.
  14. Epilepsy is not contagious
  15. 1/3 of people diagnosed with epilepsy have uncontrolled seizures because the available treatment does not work.
  16. SUDEP accounts for 34% of all sudden deaths in children.
  17. Epilepsy costs the U.S. approximately 15.5 billion each year.
  18. A seizure is a transient disruption of brain function due to abnormal and excessive electrical discharges in brain cells.
  19. Epilepsy is a disease of the brain that predisposes a person to excessive electrical discharges in the brain cell.
  20. It is diagnosed when 2 or more unprovoked seizures have occurred.
  21. It must be at least 2 unprovoked seizures more than 24 hours apart.
  22. About 14% have simple partial seizures.
  23. 36% have complex partial seizures.
  24. 5% have tonic-clonic seizures.
  25. Seizures can be caused by head trauma, stokes, brain tumor and a brain infection.
  26. Causes are unknown in 60 to 70% of cases.
  27. The prevalence is 1% of the U.S. population.
  28. Approximately 2.2 to 3 million in the U.S. have seizures.
  29. It affects all ages, socioeconomic and racial groups.
  30. Incidents are higher in children and older adults.
  31. Seizures can range from momentarily blanks to loss of awareness
  32. Almost 150,000 people in the U.S. develop epilepsy every year.
  33. No gender is likely to develop than others.
  34. 1/3 of individuals with autism spectrum disorders also have epilepsy.
  35. The prevalence of epilepsy in people with an intellectual disability is higher than the general population.
  36. It takes up to 5 times more energy for a person with epilepsy to complete even the most simple task.

CDKL5 and Teaching Strategies

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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