Because the copy of the UBE3A gene inherited from a person's father (the paternal copy) is normally inactive in certain parts of the brain, a deletion in the maternal chromosome 15 leaves no active copies of the UBE3A gene in these brain regions.
Characteristics Signs and Symptoms.
Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life; development delays normally become noticeable between the ages of 6 to 12 months.
Speech impairment, no or minimal use of words.
Movement or balance disorder.
Small head size.
Sleep disorder.
Hyperactivity.
Hand-flapping movements.
Short attention span.
Drooling.
Wide mouth.
Fascination with water.
Children with Angelman syndrome have a very happy and excitable personality with frequent smiling and laughter.
Difficulties that May Be Encountered.
Feeding.
Babies with Angelman syndrome have difficulties in coordinate sucking and swallowing and may need to be put on a high-calorie food to help gain weight.
Sleeping.
People with Angelman syndrome have abnormal sleep-wake patterns and need less sleep than normal. In some cases, this may improve with age.
Hyperactivity.
Moving quickly from one activity to another, short attention span, keeping hands or toys in their mouth. Hyperactivity often decreases with age.
Obesity.
Children with Angelman syndrome tend to have large appetites, which may lead to obesity.
Curving of the Spine.
Some people with Angelman syndrome develop an abnormal side to side spinal curvature over time.
Epilepsy.
Epileptic seizures are frequent and may be difficult to treat, but epilepsy usually improved with time. In many children, the epileptic seizures disappear completely after the age of 10-12.
Education Available.
Children with more severe levels of disability may require placement in a special school or special class attached to a mainstream primary school. Each facility is dedicated to a particular disability group, and each operates at a specially reduced pupil-teacher ratio.
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