Angelman Syndrome in Childhood and the Challenges of Parenting a

Child With AS

Jane SlomskiApril 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 situations.

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 tone

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 physically or financially care for them

Angelman Syndrome Foundation

www.angelman.org