angelman
S Y N D R O M E
Angelman syndrome was first described
in the medical literature in 1965 by Dr. Harry
Angelman, an English physician. The
characteristic findings of Angelman syndrome
are not usually apparent at birth and
diagnosis of the disorder is usually made
between 1 and 4 years of age.
DESCRIPTION SYMPTOMS
- Genetic disorder - Developmental delays, including no crawling or
- It causes delayed development, problems babbling at 6 to 12 months
with speech and balance, intellectual - Intellectual disability
disability, and sometimes, seizures. - No speech or minimal speech
- They often smile, and laugh frequently and - Difficulty walking, moving or balancing well
have happy, excitable personalities. - Frequent smiling and laughter
- Developmental delays: between about 6 - Happy, excitable personality
and 12 months of age - Trouble going to sleep and staying asleep
- Seizures: between about 2 to 3 years of age
- Cannot be cured People who have Angelman syndrome may also show the
-Treatment: focuses on managing medical, following features:
sleep and developmental issues.
- Seizures, usually beginning between 2 and 3 years
C A U S E S of age
- Stiff or jerky movements
A missing or defective gene - Small head size, with flatness in the back of the
- You receive your pairs of genes from your head
parents — one copy from your mother - Tongue thrusting
(maternal copy) and the other from your father - Hair, skin and eyes that are light in color
(paternal copy). - Unusual behaviors, such as hand flapping and
- Your cells typically use information from arms uplifted while walking
both copies, but in a small number of genes, - Sleep problems
only one copy is active.
R I S K F A C T O R S
- Angelman syndrome is rare. Researchers usually don't know what causes the
genetic changes that result in Angelman syndrome. Most people with Angelman
syndrome don't have a family history of the disease.
• Angelman Syndrome, Catherine Bandong, 12STEMPythagoras, BIOLOGY 002
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angelman
S Y N D R O M E
SUNKEN NASAL
PUFFINESS AROUND BRIDGE
THE EYES
BLUE EYES WITH
CAN STILL SEE THE A STARRY PATTERN
EPICANTHAL FOLD
(Eye Lid)
LONG UPPER
LIP LENGTH
(Philtrum)
SMALL AND WILDEY
SPACED TEETH
WIDE MOUTH
PROMINENT
LOWER LIP
SMALL CHIN
COMPLICATIONS
Complications associated with Angelman syndrome include:
- Feeding difficulties. Difficulty coordinating sucking and swallowing may cause feeding problems in
infants. Your pediatrician may recommend a high-calorie formula to help your baby gain weight.
- Hyperactivity. Children with Angelman syndrome often move quickly from one activity to another,
have a short attention span, and keep their hands or a toy in their mouths. Hyperactivity often
decreases with age, and medication usually isn't necessary.
- Sleep disorders. People with Angelman syndrome often have abnormal sleep-wake patterns and
may require less sleep than most people. Sleep difficulties may improve with age. Medication and
behavior therapy may help control sleep disorders.
- Curvature of the spine (scoliosis). Some people with Angelman syndrome develop an abnormal
side-to-side spinal curvature over time.
- Obesity. Older children with Angelman syndrome tend to have large appetites, which may lead to
obesity.
PREVENTION
In rare cases, Angelman syndrome may be passed from an affected parent to a child
through defective genes. If you're concerned about a family history of Angelman syndrome
or if you already have a child with the disorder, consider talking to your doctor or a genetic
counselor for help planning future pregnancies. 2 2
• Angelman Syndrome, Catherine Bandong, 12STEMPythagoras, BIOLOGY 002
