Anxiety, Movement Disorders May Increase With Age in Angelman Patients, Study Finds

Anxiety and movement disorders may increase with age in adults with Angelman syndrome, while the prevalence of seizures may decrease, a study suggests.

The results also call into attention the need for better monitoring and treatment, provided by a multidisciplinary medical team, to improve quality of life in the adult Angelman population. That’s because sleeping, gastrointestinal and bone disorders remain a significant issue for many adults with this condition. Read the rest of the story here

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Things To Know About Angelman Syndrome

Today is International Angelman Syndrome Day. It is a day to bring awareness to this disorder.

Image result for angelman syndrome infographic

Angelman Syndrome is a genetic disorder that affects the nervous system, characteristics that include developmental delays, intellectual disability, and speech impairments. Angelman syndrome generally go unnoticed until the age of 1 year. Children typically have a happy demeanor and have a fascination with water

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.

2018 Disability Awareness Month and Observances

Annual awareness observances are sponsored by federal, health and non-profit organizations. Awareness campaigns serve the purpose of informing and educating people on a certain causes. Each year, the number of special needs organizations bringing awareness to specific disabilities and disorders seem to grow. Awareness activities range from one day to a month.
Here is a calendar of major special needs awareness months, weeks, and days. Most websites include awareness toolkits, promotional materials and fact sheets. Since it is still early in the year, some of the campaigns still have 2017 campaigns on their websites. I will add new information once the changes are up on the websites.

January

National Birth  Defects Month

January 4- World Braille Day

January 24- Moebius Syndrome Awareness Day

February

February 15- International Angelman Day

February 28- Rare Disease Day

March

Cerebral Palsy Awareness Month

Developmental Disabilities Awareness Month

Multiple Sclerosis Month

Social Work Awareness Month

Trisomy Awareness Month

March 1- Self-Injury Day

March 1- International Wheelchair Day

March 20- Brain Injury Awareness Day

March 21- World Down Syndrome Day

March 26- Purple Day for Epilepsy

April

April 2- World Autism Awareness Day 

May

Better Hearing and Speech Month

Mental Health Awareness Month

National Asthma and Allergy Awareness Month

Prader Willi Awareness Month

Williams Syndrome Awareness Month

May 1- Global Developmental Delay Day

May 15- Tuberous Sclerosis Global Awareness Day

May 5-12- Cri du Chat Awareness Week

May 8-14- Brain Injury Awareness Week

June

June 17- CDKL5 Awareness Day 

June 23- Dravet Syndrome Awareness Day (Canada)

Tourette Syndrome Awareness Month

July

July 15- Disability Pride Parade (NY)

July 15- Disability Awareness Day (UK)

July 22- National Fragile X Awareness Day

September

Craniofacial Acceptance Month

Duchenne Muscular Dystrophy Awareness

Fetal Alcohol Spectrum Syndrome Awareness Month

Hydrocephalus Awareness Month

National Spinal Cord Awareness Month

Sickle Cell Awareness Month

September 7- World Duchenne Awareness Day

September 9- Fetal Alcohol Awareness Day

October

ADHD Awareness Month

Down Syndrome Awareness Month

National Disability Employment Awareness Month

National Dyslexia Awareness Month

Occupational Therapy Awareness Month

October 6- World Cerebral Palsy Day

OCD Awareness Week

National Physical Therapy Month

Rett Syndrome Awareness Month

Special Needs Law Month

Spinal Bifida Awareness Month

November

22q Awareness Month

Epilepsy Awareness Month

November 1- LGS Awareness Day

November 7- National Stress Awareness Day

November 15- World Ohtahara Syndrome Awareness Day

December

December 3- International Day of Persons with Disabilities

 

 

 

Angelman Syndrome

ANGLEMAN SYNDROME

Angelman Syndrome is a genetic disorder that affects the nervous system.
Symptoms
  • developmental delay
  • intellectual disability
  • epilepsy
  • microcephaly
  • short attention span
  • happy demeanor
  • hyperactivity
  • hand-flapping
Associated Behaviors
  • tongue thrusting
  • feeding problems during infancy
  • sensitivity to heat
  • frequent drooling
  • attraction to water
Prevalence

Angelman Syndrome  is  a rare disorder and affects 1 in 12,000 to 20,000 a year. Equally to less than 200,000 case a year. Affects all ethnicities and sexes equally.

History

English pediatrician, Dr. Harry Angleman first described Angelman syndrome when he observed 3 children who had similar features including unusual happiness, developmental delays and similar facial disorders. He originally called it the “Happy Puppet Syndrome” based in a 17th century Italian painting by Gian Francesco Coroto.

Causes

In most cases, a gene located on chromosome 15 is generally missing or damaged, in some cases, the individual may have 2 copies of the paternal chromosome 15.

Diagnosis

Diagnosis may include the following:

  • blood test
  • parental DNA pattern
  • missing chromosome testing
  • gene mutation
Treatment

Treatment for Angel Syndrome may include:

  • anti-seizure medication
  • physical therapy
  • communication therapy
  • behavior therapy
Medical Sites

Boston Children’s Hospital

Genetics Home Reference

Mayo Clinic

Medicine Net

Wikipedia

Organizations

Angelman Syndrome Foundation– The mission is to advance the awareness and treatment of Angelman Syndrome through education, information and research.

Foundation for Angelman Syndrome Therapeutics– FAST is an all volunteer organization of families and professionals dedicated to finding a cure for Angelman Syndrome and related disorders.