Angleman Syndrome and Adulthood

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.

 

Health Issues in Adults

Several research studies show a number of health complications for adults with Angelman syndrome. Less than half of people with Angelman syndrome also have a diagnosis of seizures. Seizures begin in early childhood and can continue through adulthood. Poor sleep in adults continue to be a challenge. This includes difficulty falling asleep, frequent waking up during the night and waking up too early. Other issues include, constipation, scoliosis, self-injurious behavior and obesity.

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.

Updated 2/15/24.

World Cerebral Palsy Day

Today is World Cerebral Palsy Day, not just a way to bring awareness, but to create a movement among people with cerebral palsy, their families and the organizations that support them.

Held in over 50 countries, World Cerebral Palsy (CP) Day is an opportunity for people to take action by creating a global movement for change.

What can you do?

The goal of World CP Day is to encourage people to take action in six-key areas:

  1. Public awareness- putting an end to ignorance and the stigma it can create.
  2. Civil rights- ensuring that government officials at the local, regional, and national level will take concrete action
  3. Medical/Therapeutic- ensuring the best information for diagnoses, prevention and treatment is available.
  4. Quality of Life- ensuring that people with cerebral palsy find enjoyment and fulfillment in life.
  5. Education- helping all educators provide an education to members of the cerebral palsy community
  6. Contribution- making sure each person has the ability to contribute to society.

Oh, and don’t forget to tweet using the hashtag #WorldCPDay

Resources

cp-poster-what-is
What is cerebral palsy?- Infographic

cp-poster-diagnosis
Cerebral Palsy Diagnosis and Treatment Infographic

20 Great Resources on Cystic Fibrosis

Infographic by IVS Solutions

Infographic by IVS Solutions

 

October is Cystic Fibrosis Awareness Month. According to the Center for Control Diseases (CDC), Cystic Fibrosis (CF) is a chronic, progressive and frequently fatal disease of the body’s mucus glands. CF primary affects the respiratory and digestive systems in children and young adults. In the United States, approximately 30,000  people are diagnosed with CF. 1 out of 3,200 Caucasian births and 1 out of 15,000 African American births.

Below are a number of resources on Cystic Fibrosis.

Medical Sites- The following sites contain information on symptoms, definition, causes, risk factors, test, diagnosis and treatment:

Kids Health
Mayo Clinic
Medicine Net
Medline Plus
Medscape
NIH (National Heart, Lungs and Blood Institute)
PubMed Health
Wikipedia

 

Organizations

Boomer Esiason Foundation-group of passionate, dedicated individuals who work every day to raise money, awareness, and support for the cystic fibrosis community.
Cystic Fibrosis Foundation-The mission of the Cystic Fibrosis Foundation is to cure cystic fibrosis and to provide all people with the disease the opportunity to lead full, productive lives by funding research and drug development, promoting individualized treatment and ensuring access to high-quality, specialized care.

 

Twitter Accounts to Follow

twitter

 

 

 

 

 

Cure Cystic Fibrosis
Cystic Fibrosis Kids
Cystic Fibrosis News
Cystic Fibrosis Teen
Cystic Fibrosis Trust
Cystic Fibrosis_ South Australia
Cystic Fibrosis_Western Australia
Medical News Today_ Cystic Fibrosis
Team Cystic Fibrosis

 

Down Syndrome Organizations

 The internet offers a number of website that provide resources on Down syndrome. Topics including family support groups, education, medical and advocacy. For additional information, click on the links below:

down syndrome ribbon

 

 

 

Band of Angels: http://www.bandofangels.com/-

Established in 1994, Band of Angels provides support for individuals with Down Syndrome and their families. The website offers links on Down Syndrome support groups and a litany of topics including, adoption, autism and education.

Down Syndrome International https://www.ds-int.org/

A U.K. based international organization comprising a membership of individuals and organizations from all over the world. Disseminates information on Down Syndrome including prenatal diagnosis, early intervention, education, medical, health, employment, aging and human rights. Down Syndrome International also promoted World Down Syndrome Day (March 21) as a day dedicated to people with Down Syndrome.

 

Global Down Syndrome http://www.globaldownsyndrome.org/

Provides fundraising, education and governmental advocacy for the Linda Crnic Institute for Down Syndrome. Resources available on the website include, information on research, medical care and facts on Down Syndrome.

 

 

International Down Syndrome Coalition: http://theidsc.org/

Dedicated to helping and advocating for individuals with Down syndrome from conception and throughout life. Offers support to parents who are new to the Down syndrome diagnosis by connecting parents to each other.

 

National Association for Down Syndrome http://www.nads.org/

NADS is the oldest organization in the United States serving individuals with Down syndrome and their families. Also provides families with information and resources that will enable them to access appropriate services and educates the public about Down syndrome.

 

National Down Syndrome Congress http://www.ndsccenter.org/

The purpose of the NDSC is to promote the interests of people with Down syndrome and their families through advocacy, public awareness, and information. When we empower individuals and families from all demographic backgrounds, we reshape the way people understand and experience Down syndrome.

National Down Syndrome Society http://www.ndss.org/

NDSS provides resources to new and expectant parents and offers a toll-free helpline and email services. NDSS also focuses on transitions , wellness and education