Early Death in Those with Autism Spectrum Disorder

Published by: Psychology Today
Written by: Michael A. Ellis

Two recent studies will undoubtedly shock individuals and families affected by autism spectrum disorder (ASD). These studies show a much earlier age of death in those with ASD as compared with the general population.

One study, published in the American Journal of Public Health in April 2017, finds the life expectancy in the United States of those with ASD to be 36 years old as compared to 72 years old for the general population.  They note that those with ASD are 40 times more likely to die from various injuries.  About 28 percent of those with ASD die of an injury.  Most of these are suffocation, asphyxiation, and drowning.  The risk of drowning peaks at about 5 to 7 years old.  As 50 percent of those with ASD wander, water safety and swim lessons are a must.  GPS trackers are also available for purchase should a child wander or get lost.  This makes finding the child or adult much easier and faster. Click here to read the rest of the story

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- General Information

Epilepsy is a chronic disorder of the central nervous system. It is often characterized by seizures and is the fourth most common neurological disorder and affects people of all ages.

epilepsy ribbon

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A person is considered to have epilepsy if they meet any of the following conditions:

  1. At least two unprovoked seizures occurring greater than 24 hours apart.
  2. One unprovoked seizure and after two unprovoked seizures occurring over the next 10 years.
  3. Diagnosis of an epilepsy syndrome.
Seizures

A seizure is caused by a burst of abnormal activity in the brain. With a seizure, a person has change in awareness, behavior, body movement or sensation. A seizure can last from a few seconds to a few minutes. Seizures can take on many different forms and affect people in different ways.

Auras

Auras are often describes as a warning before the occurrence of a seizure. Not everyone experiences an aura. Some have described it as a change in feeling, sensation, thought or behaviors. this may include:

  • An overpowering smell.
  • Nausea or indigestion.
  • A rising/sinking feeling in the stomach.
  • a sleepy/dreamy feeling.
Types of Seizures

Generalized Tonic Clonic Seizures. Involves the entire brain. May also be referred to as a grand mal seizure. This occurs when abnormal electrical activity affects all or most of the brain. often the body will stiffen and then the person will lose consciousness and then the body will shake due to uncontrollable muscle contractions.

Absence Seizure– A brief loss of consciousness or awareness. It generally last only seconds and mainly occurs in children. Signs may include a blank stare, lip smacking and repeated blinking, chewing or hand movement.

Focal Seizures– The burst of electrical activity is contain in one part of the brain. In a simple focal seizure, you may have muscular jerks or strange sensations in one arm or leg. The person does not lose consciousness or awareness.

Causes
  • brain trauma
  • genetics
  • stroke
  • tumors
  • brain infections
  • head injury.
Risk Factors
  • Babies who are born small for their age
  • Babies who have seizures in the first month of life
  • Cerebral Palsy
  • Autism Spectrum Disorders
  • Conditions with intellectual and developmental disabilities
  • Family history of epilepsy (febrile)
Triggering Factors
  • Stress or anxiety
  • Lack of sleep or tiredness
  • Skipping meals
  • Alcohol intake
  • Flickering lights
  • Fever
  • Caffeine
Diagnosis
Treatment

 

The following websites offer additional information on epilepsy including causes, symptoms, treatment, and diagnosis:

Centers for Disease Control and Prevention

Epilepsy Foundation

Mayo Clinic

Medical News Today

Medlineplus

National Institute of Neurological Disorders and Stroke 

WebMD

Wikipedia

None of the information provided is meant to treat or diagnose any conditions. Not is it a substitute for medical, or psychological diagnosis and treatment.

What You Need To Know About Dravet Syndrome

Epilepsy is the 4th most common neurological disorder in the United States. With children, around 400,000 have epilepsy and most are able to control their seizures and lead normal lives. Dravet Syndrome is a rare form, of epilepsy found in children. Symptoms include, developmental delays, sleeping conditions, and chronic infections. Here are 20 facts you shoud know about Davet Syndrome.

20facts.dravet

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  • Charlotte Dravet first described severe myoclonic epilepsy of infancy in France, 1978.
  • The name was later changed in 1989.
  • It is also called Severe Myoclonic Epilepsy of Infancy (SMEI)
  • It is a rare genetic disorder affecting 1 in every 20,000-40,000 children
  • It appears during the first year of life.
  • Developmental disabilities and abnormal EEG’s are often not evident until the second of third year of life.
  • Seizures are often fever-related.
  • It is rare to develop beyond the age of 5.
  • Children often experience poor development of language and motor skills
  • Is caused by defects in a gene in 79% of cases.
  • Affects 2-5% of children in North America
  • It is induced by prolonged exposure to warm weather
  • It is associated with sleep disorder including insomnia
  • Seizures are frequently resistant to treatment
  • There is a higher risk of Sudden Unexplained Death in Epilepsy (SUDEP) (15-20%)
  • The onset of signs and symptoms is around 6 months old
  • Children diagnosed with Dravet Syndrome have a 85% chance of survival.
  • Development is typically normal.
  • Episodes may be frequent and prolonged
  • Certain seizure medications are likely to worsen the seizures such as Dilantin, Cerebyx and Tegretol.

Resources

Dravet Syndrome Foundation
P.O. Box 16536
West Haven, CT
Tel. 203-392-1950

Dravet Syndrome UK
P.O. Box 756
Chesterfield
5439EB
Tel. 07874 866937

Epilepsy Foundation- Provides online resources on information about epilepsy and seizures, locating assistance, advocacy and public awareness.

ICE Epilepsy Alliance– Provides resources on refractory patients (anti-epileptic drug therapy which is ineffective). Site includes information on advocacy, childhood epilepsy, and Dravet syndrome.

NINDS Dravet Syndrome Information Page– Medical information page on Dravet syndrome, diagnosis, treatment, research and organizations.

WebMD– Medical website providing information on diagnosis, signs and symptoms, and treatment.

November is Epilepsy Month!

EFGA-Facts-Infographic