Angelman Syndrome

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Angelman Syndrome

• Kelly Feite
• November 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.

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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.

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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.

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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

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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

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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 childs usual tremulousness, hyper kinetic
  limb movements or attention deficits.

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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.

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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.

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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

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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

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Bibliography

• Touched by an Angel The Facts About Angel
  Syndrome. 9/16/03 http//www.angelman.org/BriefDe
  sc.htm
• Angelman Syndrome Information. 9/16/03
  http//people.zeelandnet.nl/fhof/angelman/asi.htm