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-partialcoordinated, 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 EnvironmentLRE • 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 – Where to send child. – Pay for additional services? – Which medical procedures or therapies are available? – How to choose? – Maintain family togetherness – Support non-disabled children, family, and kin – Maintain friendships

• Educational • Treatments

• Adaptation


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