Angelman
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.
Angelman
syndrome (AS) is characterized by:
Symptoms
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
flapping.
Severe
speech impairment.
Movement
or balance disorder, gait ataxia and/or tremulousness of the
limbs.
Hyperactive
behavior.
A unique
behavior with an inappropriate happy demeanor that includes
frequent laughing, smiling, and excitability.
Symptoms
that are sometime present:
Small head.
Characteristic EEG abnormalities.
Seizures, onset usually before 3 years of age.
The characteristic
features of this condition are not always obvious at birth but
evolve during childhood. Characteristic features of Angelman
Syndrome that can be present include:
Flattened
back of the head.
Deep-set eyes.
Wide, ever-smiling mouth.
Prominent jaw and widely spaced teeth.
Lightly pigmented hair, skin and eyes.
Although
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
most evident.
Associated
Features:
Microcephaly
and Seizures are common.
The child easily moved to laughter.
Loving, happy and social demeanour.
Epilepsy.
Feeding difficulties.
Disturbed sleep.
Delayed toilet training.
Flat occiput (back of the head).
Occipital groove.
Protruding tongue.
Tongue thrusting; suck/swallowing disorders.
Feeding problems during infancy.
Projecting jaw.
Wide mouth, wide-spaced teeth.
Frequent drooling .
Excessive chewing/mouthing behaviors.
Differential Diagnosis:
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.
Cause:
Angelman
Syndrome is caused by; deletion of the AS/PWS region on the
copy of chromosome 15 inherited from the mother.
Treatment:
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.
Counseling
and Psychotherapy [
See Therapy Section ]:
Behavior
Modification.
Speech Therapy.
Communication Therapy.
Pharmacotherapy
[ See
Psychopharmacology Section ] :
Anticonvulsant
medications may be prescribed for epilepsy.
