Syndrome 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.
syndrome (AS) is characterized by:
that are always present:
developmental delay such as delay in sitting, crawling and walking
or mental retardation.
marionette-type movements, stiff-legged walking style and hand
or balance disorder, gait ataxia and/or tremulousness of the
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:
back of the head.
Wide, ever-smiling mouth.
Prominent jaw and widely spaced teeth.
Lightly pigmented hair, skin and eyes.
Angelman 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
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 precise diagnosis.
Syndrome is caused by; deletion of the AS/PWS region on the
copy of chromosome 15 inherited from the mother.
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 ]:
Psychopharmacology Section ] :
medications may be prescribed for epilepsy.