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Angelman syndrome (AS) is a genetic disorder in which the still-developing brains of young children are overloaded with excitatory neuronal signals, leading to a range of severe neurological symptoms affecting behavior, sleep, learning, motor skills and communication, and which are present throughout life. Many individuals with AS also suffer from epilepsy.

Video: An Overview of Angelman Syndrome
Watch to learn more about the unmet needs in Angelman syndrome and how the condition may present itself.

• Behavior: Heightened hyperactivity and anxiety leading to maladaptive behaviors such as biting and pinching
• Sleep: Increased nighttime awakenings and diminished total sleep time
• Learning: Impaired cognitive performance and memory loss
• Motor: Uncoordinated movements, tremors, and abnormal gait limit mobility and independence with walking
• Communication: Significantly delayed development with little or no verbal speech, often leading to frustration and aggression
• Epilepsy: Those with epilepsy most frequently experience atypical absences, generalized tonic-clonic, atonic or myoclonic seizures

AS was first described in 1965—yet in over 60 years not a single treatment option has been approved. Anti-seizure medications can be used to address epilepsy. For other deficits there are no realistic options. There is an urgent need for effective, disease management treatment options. The neurological dysregulation in AS results in significant impairments that can be as difficult for individuals with AS to manage as it is for their caregivers to continuously manage:

• Living with AS: Individuals with AS require around-the-clock care and are unlikely to ever live independently
• Caring for someone with AS: Caregivers constantly supervise their loved one with AS, often experiencing their own stress, anxiety, and exhaustion in co-managing symptoms.