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Angelman Syndrome

Angelman Syndrome is a genetic disorder caused by abnormalities on chromosome 15 that results in severe intellectual and developmental disabilities. It is characterized by lack of speech, seizures, ataxic gait, inappropriate laughter, and hand flapping behaviors. The severity of symptoms depends on the specific genetic mutation, with deletions causing the most severe issues. Affected individuals experience developmental delays and generally do not develop speech. They require lifelong support and care. Parenting a child with Angelman Syndrome presents many challenges, from managing medical needs and decisions to navigating support systems. More research is still needed to better understand and treat the disorder.

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1K views

Angelman Syndrome

Angelman Syndrome is a genetic disorder caused by abnormalities on chromosome 15 that results in severe intellectual and developmental disabilities. It is characterized by lack of speech, seizures, ataxic gait, inappropriate laughter, and hand flapping behaviors. The severity of symptoms depends on the specific genetic mutation, with deletions causing the most severe issues. Affected individuals experience developmental delays and generally do not develop speech. They require lifelong support and care. Parenting a child with Angelman Syndrome presents many challenges, from managing medical needs and decisions to navigating support systems. More research is still needed to better understand and treat the disorder.

Uploaded by

The Rat
Copyright
© Attribution Non-Commercial (BY-NC)
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PPT, PDF, TXT or read online on Scribd
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Angelman Syndrome in Childhood

and the Challenges of Parenting a


Child With AS

Jane Slomski
April 18, 2008
Angelman Syndrome

• Genetic disorder caused


by maternal chromosome
15q11-13 deletion,
mutation, or UPD
• Paternal-uniparental
disomy: inheriting two
copies of chromosome 15
from father
• Causes severe MR, ID,
physical, and behavioral
  abnormalities  
Clinical Features

• Severe MR
• Non-verbal (2-3 words)
• Ataxic gait
• Seizures
• Fascination with water
• Sterotypic behaviors:
– Hand flapping
– Self-stimulating vocalizations
• Inappropriate, easily provoked
laughter
   
Physical Features

• Microcephaly
• Wide mouth
• Protruding tongue
• Prominent jaw
• Walk with hands drawn up
to sides

   
   
Angelman vs. Autism

• Very similar clinical


features
• Linked to same
chromosome
• Laughter and overly
happy demeanor unique
to Angelman patients
• Autistic patients are less
comfortable and
   
responsive in social
Genotype Phenotype

• Deletion: most severe MR,


ID, seizures
• UPD: lease severe MR, ID,
sometimes seizure-free
• Mutation: Severity of
symptoms range from
severe to mild

   
Failure to Reach
Developmental Milestones

• Sit alone  12 months


• Crawl  18-24 months
• Walk (with assistance) 
4-7 years
• Speech does not develop
• Adults have 2-3 words

   
Seizures in Angelman
Syndrome
• Febrile convulsions in
infancy
• Tonic-clonic- unconscious;
muscles contract; amnesia
• Complex-partial-
coordinated, purposesless
behaviors-lip smacking,
fidgeting, etc
• Myoclonic- sporadic, jerky
movements
   
• Atonic- loss of muscle
Educating Children With
Special Needs
• Individuals with Disabilities
Education Act- IDEA
• Least Restrictive Environment-
LRE
• Mild MR students do well in
general education classrooms
• Severe MR students-mixed
results
• AS students do better than
most severe MR students
because of their social
  demeanor  
Parenting a Disabled
Child

• Personal Reactions- (Sen &


Yurtsever, 2007)
– Shock
– Denial
– Depression
– Guilt
– Indecision
– Anger/shame
– Bargaining
– Acceptance
 
– Adaptation  
Decisions to Make
• Financial
– Who will work?
– Who will care for the child?
– How to pay for additional costs and
treatment
• Educational
– Where to send child.
– Pay for additional services?
• Treatments
– Which medical procedures or therapies are
available?
– How to choose?
• Adaptation
– Maintain family togetherness
– Support non-disabled children, family, and
kin
– Maintain friendships
   
Treatment of AS

• Functional behavior
assessment for
stereotypic behaviors
• Physical therapy
• Occupational therapy
• Speech therapy
• Anti-convulsant
medications
   
Support Systems

• Formal
– Medical and mental health
professionals
– Educators
• Informal
– Extended family and close
friends
– In dealing with a disabled child,
informal support systems were
rated most important by parents
of disabled children
   
Future Directions

• More research on AS is
needed!
• Increase awareness of
disorder
• Still easily mistaken for
autism-spectrum; treated
much the same way but
differences exist
• Most AS patients end up
institutionalized when their
  families can no longer
 
Angelman Syndrome
Foundation

www.angelman.org

   

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