Monthly Archives: March 2022

Purple Day for Epilepsy

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Date: March 26, 2022

March 26 is Purple Day is an international grassroots efforts dedicated to increasing awareness about epilepsy worldwide. People om countries around the world wear purple and host events in support of epilepsy.

Epilepsy is a neurological disorder which causes seizures through electrical impulses occurring in the brain. It is the fourth most common neurological disorder. Epilepsy affects 50 million people worldwide. In the U.S., 1 out of 26 people are affected.

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)

Prevalence:

  • More people live with epilepsy than autism, spectrum disorders, Parkinson’s disease, multiple sclerosis and cerebral palsy combined.
  • You can’t swallow your tongue during a seizure. It is physically impossible.
  • You should never force something into the mouth of someone having a seizure.
  • Don’t restrain someone having a seizure.
  • Epilepsy is not contagious .
  • Anyone can develop epilepsy.
  • Epilepsy is not rare.
  • 1 in 26 Americans will develop epilepsy in their lifetime.4An estimated 3 million Americans and 65 million people worldwide live with epilepsy.
  • In 2/3 of patients diagnosed with epilepsy, the cause is unknown.
  • 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.
  • SUDEP accounts for 34% of all sudden deaths in children.
  • Epilepsy costs the U.S. approximately 15.5 billion each year.
  • A seizure is a transient disruption of brain function due to abnormal and excessive electrical discharges in brain cells.
  • Epilepsy is a disease of the brain that predisposes a person to excessive electrical discharges in the brain cell.
  • It is diagnosed when 2 or more unprovoked seizures have occurred.
  • It must be at least 2 unprovoked seizures more than 24 hours apart.
  • About 14% have simple partial seizures.
  • 36% have complex partial seizures.
  • 5% have tonic-clonic seizures.
  • Seizures can be caused by head trauma, stokes, brain tumor and a brain infection.
  • Causes are unknown in 60 to 70% of cases.
  • The prevalence is 1% of the U.S. population.
  • Approximately 2.2 to 3 million in the U.S. have seizures.
  • It affects all ages, socioeconomic and racial groups.
  • Incidents are higher in children and older adults.
  • Seizures can range from momentarily blanks to loss of awareness
  • Almost 150,000 people in the U.S. develop epilepsy every year.
  • No gender is likely to develop than others.
  • 1/3 of individuals with autism spectrum disorders also have epilepsy.
  • The prevalence of epilepsy in people with an intellectual disability is higher than the general population.

Website: Purple Day – Supporting Epilepsy Around The World!

Resources

Epilepsy and Autism: What You Need To Know – Special Needs Resource and Training Blog

Intellectual Disabilities And Epilepsy – Special Needs Resource and Training Blog

 

Stopping dementia in Down syndrome patients

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Published by: Medical Express
Written by: Kyoto University

Down syndrome is mostly known for the learning disabilities it causes, but patients typically suffer from a wide number of ailments. One is the early onset of Alzheimer’s disease. Using iPS cells from Down syndrome patients, a new study by CiRA researchers suggests that the molecular signs of Alzheimer’s disease result from higher oxidative stress in neurons and that antioxidants could have therapeutic effects.

“The extra copy of the gene increases the expression of APP and the subsequent production of beta-amyloid, and many Down syndrome patients with cognitive impairment show high levels of beta-amyloid plaques,” explains CiRA Associate Professor Megumu Saito, who led the study. Click here to read the rest of the story.

 

World Syndrome Day

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Date: March 21, 2022

World Down Syndrome Day is an annual celebration and global awareness day officially observed by the United Nations since 2012. March 21 was selected to signify the uniqueness of the 21st chromosome which causes Down syndrome.

Facts and Statistics

Down syndrome is a genetic disorder that develops when there is an abnormal cell division resulting in an extra copy of chromosome 21.

Facts
  • There are three types of Down syndrome: trisomy 21 (nondisjunction) accounts for 95% of cases, translocation accounts for about 4%, and mosaicism accounts for about 1%
  • Down syndrome is the most commonly occurring chromosomal condition. Approximately one in every 700 babies in the United States is born with Down syndrome – about 6,000 each year
  • Down syndrome occurs in people of all races and economic levels
  • The incidence of births of children with Down syndrome increases with the age of the mother. But due to higher fertility rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age
  • People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer’s disease, childhood leukemia and thyroid conditions. Many of these conditions are now treatable, so most people with Down syndrome lead healthy lives
  • A few of the common physical traits of Down syndrome are: low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm. Every person with Down syndrome is a unique individual and may possess these characteristics to different degrees or not at all
  • Life expectancy for people with Down syndrome has increased dramatically in recent decades – from 25 in 1983 to 60 today
  • People with Down syndrome attend school, work, participate in decisions that affect them, have meaningful relationships, vote and contribute to society in many wonderful ways
  • All people with Down syndrome experience cognitive delays, but the effect is usually mild to moderate and is not indicative of the many strengths and talents that each individual possesses

Resources

Down Syndrome and Sleep Apnea

Signs of Autism Spectrum Disorder in Children with Down Syndrome

Down Syndrome and Obesity

Down Syndrome and Heart Disease

Trisomy Syndrome Facts and Statistics

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Trisomy 21 (Down Syndrome)
  • There are three types of Down syndrome: trisomy 21 (nondisjunction) accounts for 95% of cases, translocation accounts for about 4%, and mosaicism accounts for about 1%
  • Down syndrome is the most commonly occurring chromosomal condition. Approximately one in every 700 babies in the United States is born with Down syndrome – about 6,000 each year
  • Down syndrome occurs in people of all races and economic levels
  • The incidence of births of children with Down syndrome increases with the age of the mother. But due to higher fertility rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age
  • People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer’s disease, childhood leukemia and thyroid conditions. Many of these conditions are now treatable, so most people with Down syndrome lead healthy lives
  • A few of the common physical traits of Down syndrome are: low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm. Every person with Down syndrome is a unique individual and may possess these characteristics to different degrees or not at all
  • Life expectancy for people with Down syndrome has increased dramatically in recent decades – from 25 in 1983 to 60 today
  • People with Down syndrome attend school, work, participate in decisions that affect them, have meaningful relationships, vote and contribute to society in many wonderful ways
  • All people with Down syndrome experience cognitive delays, but the effect is usually mild to moderate and is not indicative of the many strengths and talents that each individual possesses

The incidence of Down syndrome is between I in 1000 to 1 in 1,100 live birth worldwide.

  • Each year, approximately 3,000 to 5,000 children are born with Down syndrome.
  • 60-80% of children with Down syndrome having hearing issues
  • 40-45% of children with Down syndrome have congenital heart disease

 

Trisomy 18 (Edwards Syndrome)
  • It is also known as Edwards Syndrome
  • It is a condition caused by an error in cell division
  • An extra chromosome in 18 develops
  • Occurs in 1 out of every 2500 pregnancies in the United States
  • It is 1 in 6000 live births
  • Only 50% of babies who are carried to term will be born alive
  • Children are often born with heart defects
  • Features include a small head, small jaw, clenched fists and severe intellectual disabilities
  • It is named after John Hilton Edwards, who first described the syndrome in 1960
  • It affects different organ systems
Trisomy 13 (Patau Syndrome)
  • Trisomy 13 is the presence of an extra chromosome 13 in all cells
  • Mosaic trisomy 13- the presence of an extra chromosome in some of the cells
  • Partial trisomy 13- the presence of a part of extra chromosome 13 in the cells
  • Occurs in about 1 out of every 5,000 to 16,000 newborns
  • The brain is mostly affected
  • Most children tend to have a heart defect
  • Was first described in 1657
  • 44% of babies born die within the first month of birth
  • In the first month of birth, 69% die by 6 months
  • Only 18% reach their first birthday
  • It is not inherited
  • Are usually born with an intellectual disability.

Help prevent vision loss from keratoconus in patients with Down syndrome

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Published by: Healio Optometry
Written by: Mitch Ibach

Keratoconus, like many ocular diseases, has genetic, systemic and environmental associations that affect prevalence.

One of the systemic conditions where keratoconus incidence is much higher is in the Down syndrome (DS) population.

DS is a genetic condition where the affected individual gets three (full or partial) copies of chromosome 21 (trisomy 21). According to the National Down Syndrome Society, one in 700 babies in the U.S. is born with DS, making it the most common chromosomal disorder.

As keratoconus (KCN) awareness continues to rise, disease prevalence studies are variable, but the trend continues to show higher incidence than previously thought.

Certain regions show higher patient numbers, but using a recent systematic global review, the authors concluded about one in 750 patients develop KCN (Hashemi et al.). In patients with DS, KCN prevalence has a larger range depending on inclusion criteria to define it, but a recent literature review showed a condensed range of 8% to 36% (Kristianslund et al.). This aligns with reported incidence of KCN being 10 times to 20 times higher in a patient with DS compared to the general population (National Keratoconus Foundation). Click here for the rest of the story.