Angelman Syndrome Symptoms

Angelman syndrome is a genetic disorder primarily affecting the nervous system. It was physician Harry Angelman who first described the syndrome in 1965 accurately. Angelman syndrome is believed to affect one in every 10,000-25,000 children across the globe. Children with this disorder feature overall development delay, difficult in speaking, balance and movement issues, hyperactive behavior and intellectual disability. Because of the jerky movements, cheery outlook and such other chirpy Angelman syndrome symptoms exhibited by children with this syndrome, this condition was also known as 'happy puppet syndrome'.

Angelman Syndrome Causes

When the egg gets fertilized by the sperm, the zygote formed contains two sets of chromosomes that have come from each parent. When the set of chromosome attained from the female parent lacks a copy of chromosome 15 due to chromosome deletion, the fetus developed has this Angelman syndrome. This is the most common reason for this condition and is seen in 68% of the Angelman syndrome cases.

If the zygote formed attains two copies of chromosome 15 from the male parent and none from the female parent, then also this condition can occur. However, this happens occasionally. Another scenario how this syndrome can occur is when the zygote attains chromosome 15 from each parent, however, the chromosome attained from the mother acts like that attained from the father. Yet another cause is mutation! When a gene called UBE3A on chromosome 15 mutates, it leads to Angelman syndrome in the fetus. Angelman syndrome cannot be not inherited, especially those which have been caused by chromosomal deletion or double chromosome set from father. Most of the people affected by this condition, have not had others affected by this condition in the family. These genetic aberrations occur randomly during fertilization of the egg or during early embryonic development.

Symptoms of Angelman Syndrome

What are the symptoms of Angelman syndrome? Babies born with this disorder do not show any Angelman syndrome at birth. The signs of delayed growth and development are noticeable between 6-12 months of age. By the age of 2-3 years, children with Angelman syndrome often begin to experience seizures. Some of the other signs and symptoms of Angelman syndrome are as follows:

• Speech impairments
• Hyperactive behavior
• Delayed mental and physical growth
• Mental retardation
• Delayed motor development
• Walks in a stiff legged manner
• Flapping of hands
• Tongue thrusting
• Occipital groove
• Crossing of the eyes (strabismus)
• Deep set eyes
• Puppet like jerky or trembling movements
• Unstable jerky gait
• Intellectual disability
• Feeding problems during infancy
• Lower jaw jutting out
• Frequent Drooling
• Widely spaced teeth
• Excessive chewing or mouthing behavior
• Can easily burst into laughter
• Unusually happy demeanor
• Wide, ever-smiling mouth
• Hypopigmentation (light color hair, skin, eyes, etc.)
• Happy go lucky, excitable, affectionate personality
• Characteristic EEG (brainwave) abnormalities

Children with this syndrome have difficulty in sleeping, eating and toilet training. Moreover, some other symptoms of Angelman syndrome seen in children with this condition are flat heads with heads that are generally small in size. Around 80% of Angelman syndrome cases suffer from epilepsy.

Treating Angelman Syndrome

DNA testing and careful observation can help the doctor confirm the condition. As of today, there is no cure available for curing this nervous system disorder. Treatment is done to control only the symptoms of Angelman syndrome and includes physical therapies, occupational and speech therapies, behavioral modification techniques involving help with general behavior, communication, schooling, etc. Medical therapy is carried out to treat the seizures affecting the person.

People with this syndrome have normal life spans. Moreover, they do not feature developmental regression on aging. Early detection and appropriate treatment can help improve their quality of life.