Angelman syndrome is a rare neurological disorder that occurs in approximately one in 12,000-20,000 people. The syndrome is caused by a genetic mutation that results in intellectual disability, limited speech and behavioral issues. While the genetic mutation occurs in-utero, the syndrome does not typically manifest until a child reaches between 1-4 years of age.
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 old. Seizures caused by Angelman syndrome often begin between 2 and 3 years of age. Speech impairment is pronounced, with little to no use of words. Children with this syndrome often display hyperactivity, small head size, sleep disorders and movement and balance disorders that can cause severe functional deficits.
Patients with Angelman syndrome will experience a range of intellectual disabilities. Key characteristics of Angelman syndrome include:
Limited speech
Continuous, happy disposition
Spontaneous, frequent laughter
Seizures
Preoccupation with water
Balance disorders
Jerky movements
Sleep disorders
Feeding difficulties
Angelman syndrome is caused by the absence of the maternal copy of the UBE3A gene.
To diagnose Angelman syndrome, a physician will first assess a patient’s language, motor and behavioral skills along with head appearance. If Angelman syndrome is suspected, a genetic test will be ordered. A genetic test requires a small amount of blood to be taken from the patient which is then sent to a lab for testing. Tests may review:
DNA pattern
Missing chromosomes
Gene mutation
Currently, there are no treatment for Angelman syndrome. Therapies for patients with Angelman syndrome target the effects of the syndrome including:
