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.
