Angelman Syndrome

Kelly FeiteNovember 17, 2003

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What is Angelman Syndrome?

• Angelman Syndrome is a neurological disorder in which severe learning difficulties are associated with a characteristic facial appearance and behavior.

• It is a genetic disorder caused by an abnormal function of a gene in chromosome #15.

Who does it affect?

• Males, females, and all racial/ethnic groups equally.

• There are estimated to be between 1000 and 5000 cases in the United States and Canada.

Developmental and Physical Features

• Not recognized at birth or in infancy.

• The most common age of diagnosis is between three and seven years when the characteristic behaviors and features become more evident.

                  

Physical Characteristics

• Flat occiput (back of the head)

• Tongue thrusting; Suck/swallowing disorder

• Wide mouth, wide-spaced teeth

• Frequent drooling

• Excessive chewing• Hypo pigmented skin• Light hair and eye

color

Clinical characteristics of Angelman Syndrome

• Developmental delay• Speech impairment, lack

of speech or minimal use of words

• Behavioral uniqueness: Any combination of frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with hand flapping movements

• Hypermotoric behavior

• Short attention span• Seizures, onset

usually before 3 years of age

Seizures

• More than 90% are reported

• Less than 25% develop seizures before 12 months of age

• May be difficult to recognize or distinguish form the child’s usual tremulousness, hyper kinetic limb movements or attention deficits.

Hyperactivity

• Most typical behavior in Angelman Syndrome

• Grabbing, pinching, and biting in older children have also been noted and may be heightened by the hypomotoric activity

• Persistent and consistent behavior modification helps decrease or eliminate these unwanted behaviors.

Speech and Language

• Some AS children seem to have enough comprehension to be able to speak, but in even the highest functioning, conversational speech does not develop.

• By 2-3 years of age, it is clear that speech is delayed but it may not evident how little the AS child is verbally communicating.

• The nonverbal language skills of AS children vary greatly; with the most advanced ones able to learn some sign language and to use such aids a picture based communication boards.

Therapy

• The severe developmental delay in AS mandates that a full range of early training and enrichment programs be made available.

• Unstable or nonambulatory children may also benefit from physical therapy.

• Occupational therapy may help improve fine motor and oral-motor control.

• Speech and communication therapy is essential and should focus on nonverbal communication. A

Education• Extremely active and hypomotoric AS children will

require special provisions in the classroom and teach aides or assistants may be needed to integrate the child into the classroom.

• The classroom setting should be structured, in its physical design and its curricular program, so that the active AS child can fit in or adjust to the school environment.

• Consistent behavior modification in the school and at home can enable the AS child to be toilet trained (schedule trained), and to perform most self help skills related to eating, dressing and performing general activities in the home.

• Educational ideas for a child with Angelman http://www.angelman.org/aseduc.htm

Bibliography

• “Touched by an Angel The Facts About Angel Syndrome”. 9/16/03 http://www.angelman.org/BriefDesc.htm

• “Angelman Syndrome Information”. 9/16/03 http://people.zeelandnet.nl/fhof/angelman/asi.htm