What is Angelman Syndrome?
This is a medical condition that affects primarily your nervous system and was first accurately described in 1965 by physician Harry Angelman. It is a disorder that is thought to affect one in every ten thousand to twenty-five thousand children around the world.
Symptoms of Angelman Syndrome
When a baby is born with Angelman syndrome they do not show any signs of Angelman syndrome when they are born. Usually between the ages of six and twelve months, they will start to show noticeable signs of delayed development and growth. They often start to experience seizures by the age of two to three. Some of the other symptoms can include:
- Impairments in their speech
- Hyperactive behavior
- Physical and mental growth that is delayed
- Mental retardation
- When walking it is usually in a stiff legged way
- Hand flapping
- Thrusting of their tongue
- Occipital groove
- Strabismus which is crossing of their eyes
- Eyes that are deep set
- Intellectual disability
- During infancy they can have problems with feeding
- Jutting out of their lower jaw
- Drooling that is frequent
- Teeth that are widely spaced
- Mouthing behavior or excessive chewing
- Can burst into laughter easily
- Hypo-pigmentation which is having light colored skin, hair, eyes, etc
- Personality that is affectionate and excitable
- Characteristic abnormalities in their brainwaves (EEG)
If you notice any of these symptoms or developmental delays in the child you should see their physician for a diagnosis.
Angelman syndrome is a genetic disorder and is caused because of the deletion of the chromosome fifteen from the chromosome set that is gotten from the female. This reason is seen in approximately sixty-eight percent of cases of Angelman syndrome. It can also happen occasionally if the fetus gets two copies from the male of chromosome fifteen but none from the female. It can also happen if each parent’s set of chromosomes has the chromosome fifteen but the one from the female acts like the one that is gotten from the male.
Angelman syndrome can also occur because of mutation. When the gene referred to as UBE3A that is found on the chromosome fifteen mutates it can cause in the fetus to be born with Angelman syndrome. Although it is a genetic disorder it cannot be inherited if the cause is double chromosome set from the male or chromosome deletion from the female. Many who have Angelman syndrome have no other family members that have this disorder. These genetic aberrations randomly happen either during the early development of the embryo or when the egg is fertilized.
The physician can usually diagnosis Angelman syndrome by observing the child or from parental observation. DNA testing can also help to make a correct diagnosis. The physician will usually take a blood sample for genetic testing. Some of the genetic testing that may be done can include:
- Chromosome or karyotyping analysis – this is where the size and number of chromosomes are examined in cell sample.
- Fluorescent in situ hybridization (FISH) – this will let the physician know if any chromosomes are missing.
- DNA methylation test – using this test they can see the printing pattern of genes. If the results are normal it will show a paternal and maternal DNA pattern. If the child has Angelman syndrome the gene that is affected will show up in the paternal design.
- Ubiquitin-protein ligase E3A gene sequencing – in rare cases a child may develop Angelman syndrome because their maternal UBE3A gene is altered but is active. If the results form the DNA methylation test is normal then a gene sequencing test may be done to see if there is any alteration in the maternal copy.
A child may be diagnosed as having Angelman syndrome by having a history of motor milestones that are delayed and later in life having delays in general development, especially in the development of speech. The physician may also be able to give the diagnosis by looking to see if the child has any unusual movements such as flapping of their hands or limb movements that are jerky. They could also have an EEG tracing that is not normal.
In 1995 in collaboration with the United States Angelman syndrome Foundation, the diagnostic criteria for having this genetic disorder were initially established. In 2005, they revised the criteria.
There is no cure for Angelman syndrome but there is treatment because there is no way that you can mend deficiencies in chromosomes. There are treatments that can help to control the symptoms of this disorder and enable them to have a fairly normal life. These treatments can include speech, occupational, and physical therapies. To help with the general behavior they can also use behavioral modification. If they are suffering from seizures there is medication that can be given but with this disorder it has been associated with there being many varieties of seizures instead of just having the one that is most closely associated with epilepsy. This means that the physician will need to establish control of the type of anticonvulsant medications that can be given along with the amount of medication to give. If the person is having trouble with their sleeping pattern they can give the person an over-the-counter sleep aid called Melatonin because most with Angelman syndrome sleep a maximum of five hours at any given time.
Most with Angelman syndrome will need care throughout their entire lives. Depending on how severe it is, with supportive help some may gain some type of independence. As the child gets older their sleep patterns and levels of hyperactivity improve and the seizures will also often decrease in frequency and may just stop altogether.
- It is also known as the happy puppet syndrome because of the chirpy symptoms, jerky movement when walking, and cheery outlook.
- Children with this disorder have developmental display, movement issues, intellectual disability, difficult in speaking, difficult with their balance, and hyperactivity behavior.
- Approximately eighty percent of children with this Angelman syndrome suffer from epilepsy.
- They have trouble eating, being toilet trained, and sleeping.
- On aging they do not feature developmental regression.
- They have short attention spans
- Their frequent smiles and laughter is thought to be the result of motor responses that are excessive.
- Some with Angelman syndrome suffer from microcephaly, which means that they have an unusually small head and there may be flatness in the back of their head.
- The combinations of many symptoms of Angelman syndrome makes it hard for them to navigate in the outside world because they struggle to understand the events that surround them and it is hard for them to communicate.
- When they walk they do it with their arms in the air.
- It is a rare syndrome.
- Dopey, the character from Disney’s Snow White and the Seven Dwarfs was created after a child who had Angelman syndrome with the character Dopey having the characteristics and demeanor of this child.
- People who have Angelman syndrome have the common characteristic an abnormal fascination with water. This can lead to more of a risk of drowning for ones with this syndrome.
They do have a normal life expectancy and their quality of life can be improved with appropriate treatment and early detection.