Mackenzie Walsh

 Dr. Harry Angelman noticed a condition in 3 children  He was a British pediatrician  Early 1980s- more cases were reported from the US  half the children with the condition  missing a piece of chromosome 15  Disorder was named after Dr. Harry Angelman (chromosome 15)

 Genetic disorder that affects the nervous system  Noticeable in early childhood  6-12 months after birth  Occurs during early embryonic development  Similar syndrome- Prader-Willi syndrome  caused by loss of paternal gene

 Loss-of-function UBE3A on chromosome 15  Normally inherit one copy from both parents  Mutation in maternal copy (genetic imprinting)  Usually not inherited  Can be due to:  Piece of maternal copy of chromosme 15 gets deleted  Inherit 2 paternal copies of chromosome 15 (paternal uniparental disomy)  Translocation  mutation in region with UBE3A

 Delayed development  Hyperactivity  Short attention span  Fascination with water  Difficulty sleeping  Improves with age  Extremely happy and excitable  Frequent laughing, smiling, hand motions

 Flattened skull  Prominent chin  Wide mouth and teeth  Scoliosis (abnormal bend in spine)  Small head  Under weight  Light colored hair and skin  Typically due to loss of gene OCA2  located in same region as UBE3A  often deleted with UBE3A

 Intellectual disability  Speech impairment  Ataxia (problems w/ movement or balance),  Epilepsy (seizures)

 No exact diagnosis  Follow diagnosis criteria:  Delay in general development  Unusual jerking movement  Characteristic facial features  History of epilepsy  Frequent laughter  Deletion of chromosome 15

 No cure- can only treat symptoms  Anti-epleptic medicine- seizures  Spinal surgery/ physical therapy- spinal problems

 Angelman syndrome occurs in about 1 out of 20,000 children  Normal life span  Need careful help/ assistance through out life

 Discovered by Dr. Harry Angelman in 1965  Genetic disorder that affects the nervous system  Loss-of-function UBE3A on chromosome 15  Mutation in maternal copy  Behavioral, physical, and medical symptoms  Follow diagnosis criteria  No cure  Can only treat symptoms  Can live a normal life span

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