Angelman Syndrome

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Angelman Syndrome

• By Jeaneane P. Kozlowski
• Presented July 1, 2003
• Temple University- Ambler College

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About the Little Angels

• Angelman Syndrome (AS) came as a result of the
  work and research of Dr. Harry Angelman in 1965.
• AS is a genetic disorder caused by abnormal
  function of the gene UBE3A, located within a
  small region on chromosome 15. This region is
  deleted from the maternally derived chromosome in
  approximately 80 of individuals with Angelman
  Syndrome.
• The remaining 20, genetic testing can often
  identify other abnormalities that disrupt UBE3A
  function.
• Some individuals have apparently normal genetic
  laboratory studies for these, the diagnosis is
  based solely upon clinical findings.

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Developmental and Physical Features

• AS usually not recognized at birth or in infancy
  developmental problems are nonspecific during
  this time.
• Parents may first suspect the diagnosis after
  reading about AS or meeting a child with the
  condition.
• Common age of diagnosis is between three and
  seven years when characteristic behaviors and
  features become most evident.
• All of the features do not need to be present for
  the diagnosis to be made, and the diagnosis is
  often first suspected when the typical behaviors
  are recognized.

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 Consensus Criteria for Clinical Features in
Angelman Syndrome  Consistent Features- 100

• Developmental delay, functionally severe
• Speech impairment, none or minimal use of words
  receptive and non-verbal communication skills
  higher than verbal ones
• Movement or balance disorder

• Behavioral uniqueness any combination of
  frequent laughter/smiling apparent happy
  demeanor
• Easily excitable personality, often with hand
  flapping movements
• Hypermotoric behavior
• Short attention span

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Frequent Features Associated
Features(more than 80) (20 -
80)

• Delayed, disproportionate growth in head
  circumference (absolute or relative) by age 2
• Seizures, onset usually lt 3 years of age 
• Abnormal EEG

• Extremely light skin and eyes 
• Tongue thrusting suck/swallowing disorders
• Feeding problems during infancy
• Increased sensitivity to heat
• Wide mouth, wide-spaced teeth
• Sleep disturbance
• Frequent drooling, protruding tongue
• Attraction to/fascination with water
• Excessive chewing/mouthing behaviors
• Flat back of head

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Touched by an Angela Child with AS

• This is Angel. When this picture was taken
  Angel was 3 years old. She is just beginning to
  walk with assistance. The following are pictures
  that show her physical development as compared to
  a developmentally normal boy 15 months younger
  than her.

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Angel and Logan
In these picture Angel is 18 mo. Logan is 3 1/2
mo. Notice Her tiny frame and extremely small
head circumference.
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A Happy Puppet

• This picture shows the puppet-like physical
  feature of the syndrome. Children with AS are
  almost always smiling and often laugh
  uncontrollably at inappropriate times.

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Classes of Angelman Syndrome
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Speech and Language Development

• Some AS children seem to have enough
  comprehension to be able to speak, but in even
  the highest functioning, conversational speech
  does not develop.
• Children with AS caused by uniparental disomy or
  extremely small deletions may have higher verbal
  and cognitive skills at times use of 10-20 words
  may occur, with awkward pronunciation. 
• Babies and young infants cry less often and have
  decreased cooing and babbling. A single apparent
  word, such as "mama," may develop around 10-18
  months but used infrequently and indiscriminately
  without symbolic meaning.
• 2-3 years of age, clear that speech is delayed
  may not be evident how little the AS child is
  verbally communicating crying and other vocal
  outbursts may also be reduced.

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• By 3 years of age, higher functioning AS children
  are initiating some type of non-verbal language.
• Some point to body parts and indicate some of
  their needs by use of simple gestures.
• Much better at following and understanding
  commands.
• Others, especially those with severe seizures or
  extreme hyperactivity cannot be attentive enough
  to achieve the first stages of communication,
  such as establishing sustained eye contact.
• 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 as
  picture-based communication boards. 

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An Angel at Play

• Even though Angel can not verbally communicate,
  it does not stop her from having fun. Children
  with AS learn nonverbal forms of communication.
  Body language is extremely important.

Angel (3 yrs.) playing rough with Logan (22 mo.)
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Education For Angels

• The severe developmental delay in AS mandates
  that a full range of early training and
  enrichment programs be made available.
• Speech and communication therapy essential
  should focus on nonverbal methods of
  communication.
• Augmentative communication aids(picture cards or
  communication boards) used at the earliest
  appropriate time.
• Extremely active AS children will require special
  provisions in the classroom teacher aides or
  assistants may be needed to integrate the child
  into the classroom.
• Structured classroom setting, in physical design
  and curricular program, enabling active AS child
  to adjust to the school environment.
  Individualization and flexibility are important
  factors.
• Consistent behavior modification in the school
  and at home can enable the AS child to be toilet
  trained (schedule-trained), and perform most life
  skills related to eating, dressing and performing
  general activities in the home. 

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Resources

• Angelman Syndrome Foundation, Inc.
• www.angelman.org
• Angeland
• http//www.angeland.org/Angeland_Home.html
• Angelman Syndrome Asclepius Online.
• http//www.asclepius.com/angel/