Angelman's syndrome is a relatively rare genetic disorder that
causes a variety of neurological problems, including
, seizures, speech impairment, and problems with movement and balance.
Angelman's syndrome was first described in 1965 by Harold Angelman,
who noted that a group of children in his medical practice had flat heads,
made jerky movements, held their tongues in a protruding way, and had
curious bouts of laughter.
Angelman's syndrome is relatively rare. As of the early 2000s there
were only about 1,000 to 5,000 known cases of the syndrome in the United
States. There is no predilection for either sex or for any particular
Causes and symptoms
Most cases of Angelman's syndrome can be traced to a genetic
abnormality inherited from a maternal chromosome (15). A particular area
of genes that should control the production and function of a protein
called ubiquitin is either absent or ineffective. A minority of cases of
Angelman's syndrome are due to new mutations in this same area of
Children with Angelman's syndrome have an abnormally small, flat
appearance to their skull. By one to two months of age, infants with the
syndrome develop feeding difficulties. By six to 12 months, developmental
delay is usually noted. Most children develop seizures by three years of
age. Other characteristics of the syndrome include abnormally decreased
muscle tone, fair skin and hair, protruding jaw, hyperactivity, episodes
of uncontrollable laughter, difficulty sleeping, and severe problems with
movement and balance. The disorder is sometimes called "happy
puppet syndrome," because many children with the disorder have
jerky, flapping movements of the arms; a stiff, jerky style of walking
(gait); a happy, excited demeanor; and regular episodes of uncontrollable
Diagnosis is made by noting the characteristic cluster of symptoms.
Careful chromosomal study can reveal abnormalities on chromosome 15 that
are consistent with those identified in Angelman's syndrome.
As of 2004 there is no cure for Angelman's syndrome. Treatments
attempt to ameliorate the symptoms in order to improve the quality of
life. Treatments may include anti-seizure medications, physical and
occupational therapy, and speech and language therapy.
—A condition marked by impaired muscular coordination, most
frequently resulting from disorders in the brain or spinal cord.
—The failure of a child to meet certain developmental milestones,
such as sitting, walking, and talking, at the average age. Developmental
delay may indicate a problem in development of the central nervous
There are no methods to prevent Angelman syndrome. However, if the
disorder is known to run in a
, genetic counseling may help parents evaluate their level of risk for
having a child with this disorder. Specialized testing of chromosome 15
will be required; the usual tests done during
or chorionic villi sampling will not reveal the specific, small genetic
flaw that causes Angelman syndrome.
Caring for a child with Angelman syndrome constitutes a complex challenge.
Parents should be encouraged to seek out parental and sibling support
groups and respite care in order to help them face these challenges.
Hall, Judith G. "Chromosomal Clinical Abnormalities." In
Nelson Textbook of Pediatrics.
Edited by Richard E. Behrman, et al. Philadelphia: Saunders, 2004.
Jankovic, Joseph. "Movement Disorders." In
Textbook of Clinical Neurology.
Edited by Christopher G. Goetz. Philadelphia: Saunders, 2003.
Didden, R. "Sleep problems in individuals with Angelman
American Journal of Mental Retardation
109 (July 2004): 275–84.
Oliver, C. "Effects of environmental events on smiling and laughing
behavior in Angelman syndrome." In
American Journal of Mental Retardation
107 (May 2002): 194–200.
Peters, S. U. "Cognitive and adaptive behavior profiles of children
with Angelman syndrome." In
American Journal of Medical Genetics
128A (July 2004): 110–3.
American Academy of Pediatrics.
141 Northwest Point Blvd., Elk Grove Village, IL 60007-1098. Web site:
"Angelman Syndrome: Just because I can't talk doesn't
mean I don't have anything to say." Available online at
http://www.armyofangels.org/ (accessed December 19, 2004).
"Facts about Angelman Syndrome: Information for Families [Internet
links]." Available online at
http://www.asclepius.com/angel/asinfo.html (accessed December 19,