ANGELMAN SYNDROME

By: Estefania Caro

WHAT IS ANGELMAN
SYNDROME?
 Angelman Syndrome is a neurological disease
that can cause many neurological and
psychological problems including seizures,
difficult behaviors, sleep and movement
disorders.
BACKGROUND/HISTORY
 In 1965, Harry Angelman, an English
pediatrician, reported the clinical findings in
three children with similar features of severe
learning disability, jerky movements, inability
to speak, excessive laughter, and seizures.
 All three had dysmorphic facial features
 This condition, originally known as the “Happy
Puppet” Syndrome or “Puppet Children”, is
now known as Angelman Syndrome
 It was considered a really rare disorder
 1 in 15,000 are born with this disorder
WHAT CAUSES ANGELMAN
SYNDROME?
 In 70% of cases, Angelman Syndrome is caused by a deletion
of chromosome 15q11-13. The name of this gene is UBE3A.
Normally, people inherit one copy of the UBE3A gene from
each parent, and both copies become active in most of the
body’s tissues. Angelman Syndrome occurs when only one
copy of the gene is active in certain areas of the brain.
 In about 20% of cases, the maternal copy of the UBE3A gene
is altered (mutated).
 2-3% of cases have uniparental disomy (UPD), which is when
a person inherits two copies of chromosome 15 from his or
her father (paternal copies) instead of one copy from each
parent.
 Imprinting defects account for 3-5% of patients without
deletions or UPD, but with abnormal chromosome 15
methylation, signifying a defect in imprinting.
THE 4 CAUSES OF ANGELMAN
SYNDROME
SIGNS AND SYMPTOMS
 Infants appear normal at birth but often have feeding
problems in the first months of life
 Developmental delays become noticeable by 6-12
months
 Seizures often begin between 2-3 years of age
 Difficulty walking, moving or balancing well
 Intellectual disability
 Minimal to no speech
 Happy, excitable personality
 Frequent smiling and laughter
 Hand-flapping movements
 Hyperactivity and short attention span
 Trouble going to sleep and usually sleep less than others
ANGELMAN FEATURES
TREATMENT
There is no cure for Angelman Syndrome since
chromosomes cannot be repaired.
Treatment focuses on the child's medical
problems and developmental delays such as:
 Anticonvulsant medication for seizures
 Physical therapy to help with joint mobility
and movement
 Speech therapy
 Occupational therapy
 Behavior therapy
ADOLESCENCE TO ADULTHOOD
 Most individuals learn to communicate non-verbally
or by using technology devices
 As individuals move from adolescence to adulthood,
seizures improve or resolve for most people
 Sleep tends to improve but is still an issue for many
 Anxiety tends to worsen after puberty and can lead
to difficult behaviors
 Many teens and adults have frequent twitching in
their hands, called myoclonus, which can spread to
their arms and the rest of the body. Myoclonus is
not seizure activity but can interfere with quality of
life and can be treated with medication.
VIDEO
https://www.youtube.com/watch?v=fqCkEm57YqM
WORKS CITED
“Angelman Syndrome Information Page.” National Institute of Neurological
Disorders and Stroke, U.S. Department of Health and Human Services,
27 Mar. 2019, www.ninds.nih.gov/Disorders/All-Disorders/Angelman-
Syndrome-Information-Page. Accessed 12 April 2020.
Clayton-Smith, J, and L Laan. “Angelman Syndrome: a Review of the
Clinical and Genetic Aspects.” Journal of Medical Genetics, BMJ
Publishing Group Ltd, 1 Feb. 2003, jmg.bmj.com/content/40/2/87.full.
Accessed 13 April 2020.
Ovid Therapeutics. “Life with Angelman Syndrome: Managing Everyday
Life | Ovid.” YouTube, uploaded by Ovid Therapeutics, 10 July 2018,
https://www.youtube.com/watch?v=fqCkEm57YqM. Accessed 14 April
2020.
“Treatments for Angelman Syndrome in Children.” Boston Children's
Hospital, Boston Children's Hospital,
www.childrenshospital.org/conditions-and-
treatments/conditions/a/angelman-syndrome/treatments. Accessed 13
April 2020.