Angelman Syndrome

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.

Symptoms

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.

Causes

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.

Complications

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.

Diagnosis:

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

Treatment strategies include;

Medication for seizures.
Behavioral therapy.
Physical therapy.
Communication therapy.

Angelman Syndrome