What is Angelman syndrome?
Angelman syndrome is a genetic disorder that affects the nervous system and causes developmental disabilities, a neurological problem such as difficulty speaking, balancing and walking.
How Angelman syndrome is caused?
Angelman syndrome is caused due to a genetic mutation on chromosome 15 named as UBE3A. One copy of the gene from each parent has been inherited, both copies are active in many areas of the body. But in the case of Angelman syndrome, only one copy of the gene is active in some areas of the brain.
What are the indications of Angelman syndrome?
• Small head size with flattened back
• Epilepsy
• Sleep difficult
• Tongue thrusting
• Strabismus
• Delayed motor development
• Speech problem
• Jerk
• Puppet type movement
• Stiff legged walking style
• Hand flapping
• Hyperactive behavior
• Loving, happy and social demeanor
• Intellectual delay
• Light pigmentation
• Balance disorder
• Deep-set eyes
• Wide, ever-smiling mouth
• Prominent jaw
• Widely spaced teeth
• Feeding difficulties
• Delayed toilet training
How to investigate Angelman syndrome?
• Abnormal EEG tracing
• Chromosome size, shape and number
• Missing chromosomes
• Parental DNA pattern
• Gene mutation
How We Can Help Patient with Angelman Syndrome to Lead A Better Life?
• Speech therapy
• Behavior modification
• Communication therapy
• Occupational therapy
• Social skills training
• Physical therapy
• Special education
• Genetic counselling
• Make the person work with a team
• Ketogenic diet
• Acupuncture and acupressure
What untreated Angelman syndrome may lead to?
• Abnormal sleep-wake patterns
• Hyperactivity
• Feeding difficulties
• Obesity
• Curving of the spine
