Angelman syndrome comprises slow mental and physical developments. Children born with this disorder walk with jerky movements and are chirpy people, who can be easily conduced to laugh.
Angelman syndrome is a genetic disorder primarily affecting the nervous system. It was physician Harry Angelman who was the first one to accurately describe the syndrome in 1965. Angelman syndrome is believed to affect one in every 10,000-25,000 children across the globe.
Children with this disorder feature overall developmental delay, difficult in speaking, balance, and movement issues, hyperactive behavior, and intellectual disability. Because of the jerky movements, cheery outlook and such other chirpy symptoms exhibited by children with this syndrome, this condition was also known as ‘happy puppet syndrome’.
Causes
When the egg gets fertilized by the sperm, the zygote formed contains two sets of chromosomes that 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.
Moreover, this condition can also occur if the zygote formed attains two copies of chromosome 15 from the male parent and none from the female parent. 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 the 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 the fertilization of the egg or during early embryonic development.
Symptoms
Babies born with this disorder do not show any signs 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. Around 80% of people with this syndrome suffer from epilepsy.
Treatment
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 this 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.
Disclaimer: This HealthHearty article is for informative purposes only, and should not be used as a replacement for expert advice.
