Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems.
Angelman syndrome results from absence of a functional copy of the UBE3A gene inherited from the mother.
Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months. Seizures often begin between 2 and 3 years of age. The frequency and severity of seizures temporarily escalate in pubescent Angelman syndrome girls but do not seem to affect long-term health.
Most individuals with Angelman syndrome will have severe developmental delays, speech limitations, and motor difficulties. However, they tend to develop strong non-verbal skills to compensate for their limited use of speech. Their understanding of communication directed to them is much larger than their ability to return conversation. Most afflicted people will not develop more than 5-10 words, if any at all. Those with the syndrome are generally happy and contented people who like play and human contact.
Individuals with this syndrome often display:
- Small head size
- Flat heads
- Sleep disorders – a maximum of 5 hours of sleep at any one time
- Movement and balance disorders
- Protruding tongues
- Bouts of laughter
There is currently no cure available. However, individuals with Angelman syndrome can have normal life spans. Early diagnosis and tailored interventions and therapies help improve quality of life.
The clinical features of Angelman syndrome alter with age. As adulthood approaches, hyperactivity and poor sleep patterns improve. The seizures decrease in frequency and often cease altogether and the EEG abnormalities are less obvious.
There is no specific therapy for Angelman syndrome; treatment is focused on reducing symptoms. Medical therapy for seizures is usually necessary and can be controlled by the use of one or more types of anticonvulsant medications. Melatonin can be used to promote sleep. Mild laxatives are also used frequently to encourage regular bowel movements. Physical and occupational therapies, communication therapy, and behavioral therapies are important in allowing individuals with Angelman syndrome to reach their maximum developmental potential.