It is a genetic disorder that is characterised by developmental delay and certainly affecting nervous system.
Also known as HAPPY PUPPET SYNDROME.
Features include:
- Delayed development.
- Severe speech delay.
- Improper balance.
- Intellectual disability.
Angelman children are usually happy with a smile over their face, generally excitable personalities.
These children usually remain unnoticed until they reach their developmental milestones that are usually found to be delayed in these children. This becomes noticeable by the age of 6-12 months.
Seizures more commonly have an onset at age of 2-3 years.
FREQUENCY:
Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people.
CAUSES:
It is caused due to loss of function of a gene UBE3A.
Generally, only the maternal copy of the UBE3A gene is active in the brain.
In most of the cases, Angelman syndrome occur when part of the maternal copy is lost or damaged.
In very few cases, Angelman syndrome is caused when two paternal copies of the gene are inherited, instead of one from each parent.
RISK FACTORS:
Angelman syndrome is a rare disorder. A family history of the disease may increase a baby’s risk of developing this syndrome.
SYMPTOMS:
- Frequent smiling and laughter.
- No speech or much less speech.
- Intellectual disability.
- Trouble going to sleep or staying alseep.
- Developmental delays.
- Difficulty in walking or moving.
- Fascination towards water.
- Hyperactivity with short span of attention.
- Lifelong Seizures.
Additional features may also include:
- Hair, skin and eyes are light in colour.
- Tongue thrusting.
- Microcephaly with flatness in back of head.
- Stiff or jerky movements.
- Hand-flapping.
- Drooling
- Child with short stature.
COMPLICATIONS:
- Obesity: Elder children with Angelman syndrome usually have a large appetite which tends to obesity in them.
- Sleep disorder: These is generally due to their abnormal sleep-wake patterns and lack of sleep.
- Hyperactivity: They often quickyly move from one one place to another. Hyperactivity often decreases with age.
Scoliosis: They often have an abnormal side-to-side curvature of the spine.
