This is a genetic condition which manifest as developmental delay and disturbed speech, balance and intellectual abilities. The first ever sign of Angelman syndrome is the developmental delay which usually occur between 6 to 12 months of age.
Signs and symptoms of this disorder includes;
- Delay in the development, baby not achieving developmental milestone even at 6 to 12 months of age.
- Intellectual disability.
- Distorted speech.
- Difficulty in sleeping or asleep for long time.
- Frequently smiling or laughing.
- Small head size, and flat back.
- Thrusting of tongue.
- Unusual behaviors.
Variety of causes are there for this condition like mutation in some genes causing a gene defect or missing a crucial gene. UBE3A gene comes from maternal side as a single copy. Missing UBE3A gene can lead to the development of Angelman syndrome.
Associated complication of this condition are;
- Difficulty in feeding.
- Quick sudden movement/ hyperactivity.
- Disturbance in sleeping pattern.
- Scoliosis; which is the abnormal curvature of spine.
- Obesity in children.
- Complete history and general physical examination.
- DNA methylation test, checking paternal DNA patterns.
- chromosomal microarray (CMA), detecting any missing chromosome.
- UBE3A gene sequencing test, to detect maternal gene mutation
Treatment strategies include;
- Medication for seizures.
- Behavioral therapy.
- Physical therapy.
- Communication therapy.