is a rare neurological disorder disorder that is predominantly caused
by deletions on chromosome 15 given by the mother and is characterized
by severe congenital mental retardation, unusual facial appearance,
and muscular abnormalities.
(AS) is characterized by:
that are always present:
Severe developmental delay such as delay in sitting, crawling and
walking or mental retardation.
Jerky, marionette-type movements, stiff-legged walking style and hand
Severe speech impairment.
Movement or balance disorder, gait ataxia and/or tremulousness of
A unique behavior with an inappropriate happy demeanor that includes
frequent laughing, smiling, and excitability.
that are sometime present:
Characteristic EEG abnormalities.
Seizures, onset usually before 3 years of age.
features of this condition are not always obvious at birth but evolve
during childhood. Characteristic features of Angelman Syndrome that
can be present include:
of the head.
Wide, ever-smiling mouth.
Prominent jaw and widely spaced teeth.
Lightly pigmented hair, skin and eyes.
Syndrome is usually not recognized at birth or in infancy since the
developmental problems are nonspecific during this time. Parents may
first suspect the diagnosis after reading about Angelman Syndrome
or meeting a child with the condition. The most common age of diagnosis
is between three and seven years when the characteristic behaviors
and features become most evident.
and Seizures are common.
The child easily moved to laughter.
Loving, happy and social demeanour.
Delayed toilet training.
Flat occiput (back of the head).
Tongue thrusting; suck/swallowing disorders.
Feeding problems during infancy.
Wide mouth, wide-spaced teeth.
Frequent drooling .
Excessive chewing/mouthing behaviors.
Some disorders have similar or even the same symptoms. The clinician,
therefore, in his/her diagnostic attempt has to differentiate against
the following disorders which need to be ruled out to establish a
is caused by; deletion of the AS/PWS region on the copy of chromosome
15 inherited from the mother.
There is no standard
course of treatment for Angelman Syndrome. Physical therapy and adaptive
devices may help patients with jerky gait. Early language evaluation
and intervention is often recommended.
and Psychotherapy [
See Therapy Section ]:
[ See Psychopharmacology
Section ] :
medications may be prescribed for epilepsy.