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