ANGELMAN SYNDROME

Prepared by : ANGOT JAMAICA V.

WHAT IS IT?
❏ 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
GENETICS BEHIND ANGELMAN SYNDROME
❏ There are different levels of ANGELMAN SYNDROME but
no levels is hereditary based.
❏ Most cases of ANGELMAN SYNDROME are not inherited.
❏ It is usually caused by a deletion in the maternal
chromosomes 15 or by paternal unipaternal disomy
(UPD).
It causes

● DEVELOPMENTAL DISABILITIES
● NEUROLOGICAL PROBLEMS
● SEIZURES
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 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.
SIGNS AND SYMPTOMS
● Infants with ANGELMAN SYNDROME appear normal at birth , but often
have feeding problems in the first months of life and exhibit
developmental delays by 6to 12 months.
● Speech impairment is pronounced, with little to no use of words.
● Hyperactivity
● Small head size
● Sleep disorder
● Movement and balance disorders
ADULTS WITH ANGELMAN SYNDROME HAVE DISTINCTIVE
FACIAL FEATURES THAT MAY BE DESCRIBED AS “ COARSE”.
OTHER COMMON FEATURES INCLUDE UNUSUALLY
● LIGHT COLORED HAIR
● FAIR SKIN
● ABNORMAL SIDE-TO-SIDE CURVATURE OF THE SPINE
(SCOLIOSIS)
DIAGNOSIS
THESE TESTS MAY REVIEW :

1. PARENTAL DNA PATTERN (DNA methylation test)

2. MISSING CHROMOSOMES
3. GENE MUTATION
TREATMENT
DEPENDING ON YOUR CHILD’S SIGN AND SYMPTOMS,
TREATMENT FOR ANGELMAN SYNDROME MAY INVOLVE :
● ANTI-SEIZURE MEDICATION
● PHYSICAL THERAPY
● COMMUNICATION THERAPY
● BEHAVIOR THERAPY