- What is Angelman Syndrome?
- Angelman Syndrome Symptoms
- Angelman Syndrome Causes
- Difficulties feeding
- Problems sleeping
- Angelman Syndrome Diagnosis
- Karyotyping or chromosome analysis
- FISH or fluorescent in situ hybridization
- DNA methylation test
- The “ubiquitin-protein ligase” E3A gene sequencing
- Angelman Syndrome Treatment
- Physical therapy
- Medication for seizures
- Communication therapy
- Behavior therapy
- Angelman Syndrome Facts
- Angelman Syndrome Life Expectancy
What is Angelman Syndrome?
This is a disorder which is genetic and causes disabilities in development as well as neurological problems, for example, difficulty balancing, walking and speaking. There are also often seizures involved. Smiles and laughter are frequent and common with individuals who have this syndrome as many have excitable, happy personalities.
The signs and symptoms of this syndrome are not able to be detected at birth and are usually not detected until developmental delays are noted when the baby is six to twelve months old.
The treatment for this syndrome centers on the management of the child’s developmental and medical problems.
Angelman Syndrome Symptoms
Symptoms and signs of Angelman syndrome consist of:
- Delays in development
- Mental retardation
- Minimal or lack of speech
- No ability to walk, balance or move effectively
- Trembling of legs and arms
- Laughing and smiling frequently
- Excitable, happy personality
Other problems and symptoms include:
- Seizures starting between the ages of two and three years of age
- Movements that are jerky and stiff
- Head size that is small
- Flatness in back of the head
- Crossed eyes
- Tongue thrusting
- Lower jaw juts out
- Pigmentation that is light in hair, eyes and skin
- Walking with arms in the air
The majority of babies with this disorder do not show any symptoms of the disorder when born. The first signs occur or develop between six months to one years of age.
If the child has any of these problems developing, take the child to see your doctor.
Angelman Syndrome Causes
Being a disorder that is genetic, Angelman is caused by complications with a gene situated on chromosome number 15 which is referred to as the “ubiquitin-protein ligase E3A” or “UBE3A” gene.
Genes are sections of DNA providing the “blueprint” for all an individual’s characteristics. Genes are traditional in pairs coming from our parents with one copy coming from the father or paternal side and one copy coming from the mother or maternal side. Both genes in a pair normally are active denoting that data from both the paternal as well as the maternal copy of each pair of genes are used by the cells. But at times and in just an insignificant number of genes, only one copy is active. This activity or blueprint on that copy will be defective or missing this causes genetic problems.
Normally with Angelman syndrome the “UBE3A” gene material blueprint is active with the other half being defective or missing.
This syndrome is very rare. Researchers do not know what causes the defect in the genes and in most cases there is no history in the family of the disease. Nevertheless, in a small number of cases, Angelman syndrome can be inherited from a parent, so a family history of Angelman syndrome can raise the risk for the development of Angelman syndrome.
Complications linked with this syndrome include:
Certain babies with this disorder have difficulties feeding in the first months of life due to the lack of ability to synchronize swallowing and sucking. If the baby has problems with eating, the pediatrician will endorse a formula that is high-calorie to aid the baby in gaining weight.
It is normal for those with this syndrome to have atypical wake-sleep patterns as well as the need to have less sleep than normal. Medication as well as behavior therapy can help control these problems.
Most children with this syndrome have amplified motor movement and they may change rapidly from one action to another, keeping hands or a toy in the mouth. This is due to short attention spans. This problem often decreases as the child ages and medication normally is not necessary.
Angelman Syndrome Diagnosis
To confirm the conclusion of Angelman syndrome will requires blood for genetics studying. A mixture of genetic testing can disclose the defective chromosome. These tests can include:
Karyotyping or chromosome analysis
This is a test where the shape, number as well as the size of chromosomes in a sample of cells is examined.
FISH or fluorescent in situ hybridization
This is the test that shows if chromosomes are missing.
DNA methylation test
This is the test that discloses a gene’s printing pattern. Results that are normal will show a maternal and paternal DNA pattern. In the case of an individual with this syndrome merely a paternal design is shown in the gene that is affected.
The “ubiquitin-protein ligase” E3A gene sequencing
There are infrequent cases where Angelman syndrome may develop when an individual’s maternal copy of the “UBE3A” gene is active but altered. So if the outcomes from a DNA methylation test come back normal, the physician can order a “gene sequencing” test in order to detect any maternal alteration.
Angelman Syndrome Treatment
Due to the fact that there is not any method to mend chromosome deficiencies, there is no cure for this syndrome. Therefore the treatment for Angelman syndrome consists of managing the development as well as the medical problems caused by this genetic disorder.
Medical professionals will work with the parents of the child to manage the child’s condition. Contingent on the symptoms and signs the child has, management of Angelman syndrome can involve any of the following:
Individuals with this syndrome can learn how to walk better as well as overcome other problems with movement with the assistance of physical therapy.
Medication for seizures
These may be needed to manage any seizures that develop.
Since those with this syndrome usually do not progress verbal language past using simple sentences, still therapy for communication can be useful. Nonverbal skills can be developed thru picture communication as well as sign language.
This type of therapy can aid those with this disorder to overcome a short attention span as well as overcome hyperactivity and help with the developmental growth..
Angelman Syndrome Facts
Discovering that your child has Angelman syndrome often is overwhelming. Parents don’t know what to expect and they worry about being able to care for a child with these sets of problems. But there are resources that may help.
Work with a team. Find therapists and doctors that are trusted to help with the decisions that parents will need to make about their child’s treatment and care.
Finding a support group in order to connect with other families facing the same problems usually help parents in feeling less alone.
Facts that are interesting include:
- This disorder is named after Dr. Harry Angelman who was a pioneer in first describing Angelman syndrome in 1965.
- This disorder was first referred to as Happy Puppet syndrome due to the characteristic of individuals having this disorder moving like a marionette or puppet on a string.
- The Disney character of Dopey was modeled after someone with this syndrome and this character had the demeanor and characteristics of Angelman syndrome.
- The prevalence of Angelman syndromes is believed to be 1 in 15,000.
- Those with Angelman syndrome has a common characteristic of being abnormally fascinated with water which can lead to an increased risk of drowning.
Angelman Syndrome Life Expectancy
For those with Angelman syndrome who live an active and healthy lifestyle the life expectancy is the same as normal individuals. This disorder has not been found to have any effect on the life span of sufferers.