SELF-INSTRUCTIONAL MANUAL

ON

ANGELMAN SYNDROME AND

GENETIC DISORDERS

Prepared by
Ms. Jincy Mol
II year, M. Sc (N)
Josco College of Nursing
Bangelaore
Introduction

Angelman syndrome is a complex genetic disorder that causes developmental and neurological
problems, such as severe speech impairment and trouble walking and balancing (ataxia).

 affects about 1 in 10,000 people

 people with Angelman syndrome are usually happy and affectionate and may laugh often
and at inappropriate times
 affected people may also have epilepsy
 is often associated with low levels of pigment in skin, hair and eyes
 treatment focuses on the behaviors associated the disorder

History of Angelman Syndrome

Angelman Syndrome was diagnosed by Dr. Harry Angelman in 1965. Before the diagnosis they
called the disorder “Happy Puppet Disorder” because of the way the person moved their arms
and hands, and the way they smiled. It looked as if the persons arms were being held up with
puppet strings. Instead of Angels they were called “Puppet Children”.

Definition:

Angelman Syndrome is a rare genetic disorder the affects 1 out of 15,000 people. This disorder
affects the nervous system. It is resulting from a defect in the maternally inherited copy of
chromosomes 15q11.2-13. Meaning that chromosome 15 is missing, and there is a break in part
of chomosome 11-13.

Genetics behind Angelman Syndrome.

There are different levels of Angelman Syndrome but no level is hereditary based. Most cases of
Angelman Syndrome are not inherited. It is usually caused by a deletion in the maternal
chromosome 15 or by paternal unipaternal disomy (UPD). UPD is when there is 2 copies of the
fathers chromosome 15 and the mothers copy is missing. In some cases the fathers copies are
silenced so you cannot tell at birth that the child has angelman syndrome (AS)
Causes of Angelman syndrome:

Angelman syndrome is caused by a genetic mutation on chromosome 15. The name of

this gene is UBE3A. Normally, people inherit one copy of the gene from each parent, and both
copies become active in many areas in the body. Angelman syndrome occurs when only one
copy of the gene is active in certain areas of the brain.

Other Causes

Angelman Syndrome can also be caused by a chromosomal rearrangement called a

translocation, or by a mutation or other defect in the region of DNA that controls activation of
the UBE3A gene. In these genetic changes it can inactivate the UBE3A or other genes on the
maternal side. Imprinting: Genomic imprinting refers to a process whereby the maternal copy of
a gene can be marked or “imprinted” differently than the paternal copy of the same gene

Risk factors.

There are no known risk factors for Angelman syndrome. In some cases, a family history may
increase the chances of a baby having the disorder but the disease is rare, occurring in just 1 of
every 10,000 people. If you already have a child with Angelman syndrome or are concerned
about a family history, talking with your doctor or a genetic counselor may be helpful.

Symptoms

Children with Angelman syndrome tend to have some, but not necessarily all, of the following
behaviors and characteristics:

 Hand flapping or walking with arms in the air

 Jerky body movements
 Stiffed-leg walk
 Little or no speech
 Attention deficits
 Hyperactivity
 Feeding problems, especially in infancy
  Sleep problems and a need for less sleep than their peers
 Delays in motor development
 Frequent laughter that may occur at inappropriate times
 Excitable personality
 Tongue thrusting
 Strabismus (crossing of the eyes)
 Small head size with flatness in the back of the head
 A lower jaw that juts out
 Light pigmentation in the hair skin and eyes

Medical complications

Children with Angelman syndrome may have feeding difficulties, sleep problems and
hyperactivity.

 Feeding difficulties, such as problems sucking and swallowing, may occur during the first
few months of life.
 Sleep disorders, such as frequent waking, may need to be treated with medication or
behavior therapy.
 Hyperactivity tends to decrease as children get older, but many young children with
Angelman syndrome may have short attention spans and move quickly from one activity
to the next.

Management:

People with Angelman syndrome have almost normal life spans. Adults are not usually able to
live on their own but can learn basic household tasks and can live in group homes. Some
individuals can have jobs in which they are supervised directly.

Cure. Angelman Syndrome has been cured in mice both genetically and pharmacologically. This
lets us know we CAN find a cure for AS in humans. The gene responsible for AS is the
maternally inherited copy of UBE3A, when it is not expressed in the child. The paternally
inherited copy of UBE3A is present but in most cases silent. If scientist and doctors can safely
activate the paternal copy, the protein of this gene could be restored without the need of gene
therapy.

Treatments for Angelman Syndrome in Children

Treatment for Angelman syndrome focuses on managing the child's medical problems and
developmental delays since there is no cure to repair chromosomes. Treatment may include the
following:

 Anticonvulsant medication for seizures

 Physical therapy to help with joint mobility and movement
 Speech therapy
 Occupational therapy
 Behavior therapy

Foundations & Organizations

FAST: Foundation for Angelman Syndrome Therapeutics. www.CUREAngelman.org .

FAST mission statement, “ There are many diseases & disorders that will not be cured in our
lifetime. With your help AS will NOT be one of them.”

Every two years FAST has a Gala for families with angels to come and talk to one
another and just have a good time. They hear about eachothers experiences.

ASF: Angelman Syndrome Foundation. www.angelman.org . ASF mission statement,

“Give them a reason to smile.”

Fighting Angels Foundation

https://www.facebook.com/pages/Fighting-AngelsFoundation/429064183878133

This is a foundation for Joey Moretti who was diagnosed with angelmans syndrome.

They are coming together to raise money towards the cure for AS.