Angelman’s Syndrome

Authored and researched by April Williams

What is Angelman Syndrome?

Angelman syndrome is named after a British pediatrician, Dr. Harry Angelman, who first gave a description for the syndrome in 1965. An older, term for Angelman syndrome, “Puppet Children” is considered offensive and stigmatizing so it is no longer the accepted term. Dr. Angelman explained his choice of the title “Puppet Children.” He used the title to describe the three cases he had observed. Dr. Angelman said that the term was related to an oil painting he had seen while vacationing in Italy: “The diagnosis was purely a clinical one because in spite of technical investigations which today are more refined I was unable to establish scientific proof that the three children all had the same handicap. In view of this I hesitated to write about them in the medical journals. However, when on holiday in Italy I happened to see an oil painting in the Castelvecchio Museum in Verona called . . . a Boy with a Puppet. The boy’s laughing face and the fact that my patients exhibited jerky movements gave me the idea of writing an article about the three children with a title of Puppet Children.” (Dr. Williams, Charles.)

It was not a name that pleased all parents but it served as a means of combining the three little patients into a single group. Later the name was changed to Angelman syndrome. Individuals with Angelman syndrome are sometimes known as “Angels”, both because of the syndrome’s name and because of their youthful, happy appearance. Dr. Angleman’s initial case study was the only one of its kind and research did not truly continue until the early 80’s.

Angelman syndrome is a neuro-genetic disorder (an illness that affects or is centered in the brain, caused by abnormalities in genes or chromosomes.) We all inherit two copies of every autosomal gene, (An autosome is a chromosome that is not a sex chromosome.) There are an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, (X and Y.) So, humans have 23 pairs of chromosomes, one copy from our mother and one from our father. Both copies are functional fo r the majority of these genes; however, in a small subset one copy is turned off. Angelman syndrome, is caused by the deletion or inactivation of genes on the maternally inherited (mother given) chromosome 15 while the paternal copy (father given), which may be normal, is imprinted (stamped) and therefore silenced.

Characteristics of Angelman syndrome

There are many characteristics of this syndrome, some occurring all of the time some are per individual case. These can be, but are not limited to; Sleep disturbance, Seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor, Tongue thrusting, Sucking and swallowing disorders, frequent drooling and protruding tongue. Some characteristics are common and have been found in 100% of diagnosed cases.

These include the following:

  • Developmental delay, functionally severe
  • Speech impairment, no or minimal use of words; receptive and non-verbal communication skills are higher than verbal ones
  • Movement or balance disorder, usually ataxia (lack of order) of gait (the pattern of movement) and/or unsteady movement of limbs
  • Behavioral uniqueness: any combination of frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with hand flapping movements; hypermotoric (increased motor activity) behavior; short attention span

Then there are other characteristics that are present 80% of the time or less. These can be:

  • Delayed, growth in head circumference, usually resulting in microcephaly by age 2. This means that the circumference of the head is two times smaller than the average person. Some will have a flat back of the head.
  • Seizures, usually starting at 3 years of age (can be earlier.) There are three types; Gelastic (laughing/crying), Absence (brief and can appear like “stare mode” up to Petit Mal), and Tonic (also known as grand mal) seizures.
  • Eyes are not properly aligned. (Strabismus.)
  • Hypopigmented skin and eyes (loss of color.)
  • Tongue thrusting; suck/swallowing disorders. Frequent drooling.
  • Feeding problems during infancy (due to swallowing issues.)
  • Uplifted, flexed arms during walking. Walking occurs between 2 and 5 years 10% do not walk at all.
  • Increased sensitivity to heat. Wide mouth, wide-spaced teeth.
  • Sleep disturbance.
  • Attraction to/fascination with water
  • Smooth palms

Those with Angelman syndrome are generally happy and content people who like human contact and play. Individuals with AS exhibit a deep desire for personal interaction. Communication can be difficult at first, but as a child with AS develops, there is definite character and ability to make themselves understood. They tend to develop strong non-verbal skills to compensate for their limited use of speech. It is widely accepted that their understanding of communication directed to them is much larger than their ability to return conversation. Most will not develop more than 5-10 words, if any at all.

Treatment/Cure

There is currently no cure available. The seizure/epilepsy can be controlled by the use of one or more types of anti-seizure medications. However, there are difficulties in determining the levels and types of anti-seizure medications needed to establish control, because AS is usually associated with having multiple varieties of seizures, rather than just the one as in other cases of epilepsy. Seizures are a consequence, but so is excessive laughter, which is a major hindrance to early diagnosis.

Many families use melatonin to promote sleep. Many individuals with Angelman syndrome sleep for a maximum of 5 hours at any one time. Mild laxatives are also used frequently to encourage regular bowel movements and early intervention with physiotherapy is important to encourage joint mobility and prevent stiffening of the joints.

Qualifying for Special Education

The IDEA defines “children with disabilities” as having any of the following types of disabilities: autism, deaf, deaf-blindness, hearing impairments; including deafness, mental retardation, multiple disabilities, orthopedic impairments, other health impairments, serious emotional disturbance, specific learning disabilities, speech or language impairments, traumatic brain injury, and visual impairments; including blindness (Parental Advocate.)

Children with Angelman syndrome qualify for special education under a few of the above mentioned categories. These are: multiple disabilities, orthopedic impairments, other health impairments and speech or language impairments. They can qualify as soon as a diagnosis is made which is usually before 2 years old. There are early intervention programs that take place that open up the special education process for these children and their families.

Resources for Parents/Families

Angelman Syndrome Support Education and Research Trust
PO Box 4962
Nuneaton, Intl CV11 9FD
United Kingdom
Tel: 0300 999 0102
Email: info@angelmanuk.org
Internet: http://www.angelmanuk.org

Angelman Syndrome Foundation, Inc.
4255 Westbrook Drive
Suite 219
Aurora, IL 60504
USA
Tel: (630)978-4245
Fax: (630)978-7408
Tel: (800)432-6435
Email: swenger@angelman.org
Internet: http://www.angelman.org

Arc
500 East Border Street
Suite 300
Arlington, TX 76010
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org

Canadian Angelman Syndrome Society
P.O. Box 37
Priddis
Alberta, Intl T0L 1W0
Canada
Tel: 403-931-2415
Fax: 403-931-2415
Email: info@AngelmanCanada.org
Internet: http://www.angelmancanada.org

Epilepsy Foundation
8301 Professional Place
Landover, MD 20785
Tel: (301)459-3700
Fax: (301)577-2684
Tel: (800)332-1000
TDD: (800)332-2070
Email: info@efa.org
Internet: http://www.epilepsyfoundation.org

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Internet: http://rarediseases.info.nih.gov/GARD

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Email: me20t@nih.gov
Internet: http://www.ninds.nih.gov/

NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda, MD 20892
Fax: (866)760-5947
Tel: (800)370-2943
TDD: (888)320-6942
Email: NICHDInformationResourceCenter@mail.nih.gov
Internet: http://www.nichd.nih.gov/

The Parental Advocate
http://www.theparentaladvocate.com/qualifying-for-special-education.htm.

Works Cited

American Journal of Medical Genetics http://onlinelibrary.wiley.com (abstract) Retrieved 03/22/2011.
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Facts about Angelman Syndrome, Angelman Syndrome Foundation (USA). 1991. Dr. Williams, Charles http://www.angelman.org/ Retrieved 03/22/2011.