Angelman syndrome or AS causes developmental disabilities. This disorder can be identified in a baby when they are 6 to 12 months old. Little ones affected by the condition will experience developmental delays related to crawling, babbling, and so forth. Children who have this syndrome have overly happy and excitable personalities.
There’s a gene called UBE3A, whose absence or loss of function causes certain parts of the brain to not perform their actions well. Kids diagnosed with this condition live nearly normal lifespans. Presently, the condition is incurable. But the symptoms associated with it are treatable. For example, behavioral modification therapy is done to cure behavior-related problems arising out of the syndrome. Moreover, some methods of communication like sign language address the issues with speaking.
In This Article
- What is Angelman Syndrome (AS)?
- What Are The Causes of Angelman Syndrome?
- What Are The Signs And Symptoms of AS in a Child?
- Are There Any Complications of Angelman Syndrome?
- How is Angelman Syndrome Treated in Young Children?
- How to Prevent Angelman Syndrome?
- When to See a Doctor?
- FAQ’s
What is Angelman Syndrome (AS)?
Angelman syndrome causes certain defects in the nervous system. It happens particularly because of problems with the UBE3A gene. A baby inherits two copies of every gene, one from the mother and one from the father. These genes serve as blueprints for the body to form and function.
In the case of AS, issues with the UBE3A gene results in neurodevelopmental conditions. It affects the nervous system, the body’s command center. Your nervous system is in charge of your movements, behaviors, thoughts, and automatic responses.
Mostly, children with this syndrome smile frequently, laugh, and carry happy and excitable faces.
What Are The Causes of Angelman Syndrome?
The malfunctioning of the UBE3A gene is to be pointed at for most of the symptoms of Angelman syndrome. Whether a newborn will have this condition or not is decided when the fetus is developing. Normally, each biological parent contributes one copy of this gene. In many tissues of the body, both copies are actively functioning. But in some areas of the brain, the maternal copy of the UBE3A is required.
Therefore, the brain goes through some problems while giving commands. For example, consider two wooden blocks as two individual neurons. A mix of red and blue tablets connect them, taking them to be neurotransmitters. The red one holds accountability for excitatory action. And blue tablets are responsible for calming action.
A balance is needed for many tasks like walking and speaking. Those whom Angelman syndrome affects have the blue tablets missing. As a result, there’s too much excitatory action that’s going on.
In about 70% of cases, the cause of Angelman syndrome was the absence or the loss of function of the UBE3A gene. Furthermore, changes in the structure of this gene resulted in nearly 11% of symptoms related to the syndrome.
Unlike other gene mutations, Angelman syndrome doesn’t get passed from parent to offspring. The UBE3A gene shows an abnormality in the developing fetus for unknown reasons.
What Are The Signs And Symptoms of AS in a Child?
Angelman syndrome in children can cause some of the following symptoms to arise, but all of them may not appear-
- Flapping arms or holding arms in the air while walking
- Jerks in body movements
- Stiff legs while walking
- Absence of or very little speech
- Difficulty paying attention along with hyperactivity
- Motor development is delayed
- Sleep troubles. Sleeps less than their peers
- Problems while feeding, especially for an infant
- An excitable mood and personality
- Hair skin and eyes have light pigmentation
- Head size is small with a flat backside
- Tongue thrusting
- The lower portion of the jaw juts out
- Strabismus (crossing of the eyes)
Are There Any Complications of Angelman Syndrome?
Parents and children face the most difficulties because of these complications-
- The infants, in their first few months, may go through a lot of problems during feeding. Sucking milk and swallowing might be very difficult.
- Some sleep disorders may distress the little ones. Very often, the kid wakes up from their sleep. And this requires medication or behavior therapy.
- Another complication of the syndrome is hyperactivity which reduces by itself as the kid grows up. However, infants, toddlers, and young children with the condition have low attention spans and jump from one activity to the other
How is Angelman Syndrome Treated in Young Children?
As explained above, Angelman syndrome is caused because of abnormalities with the UBE3A gene. Currently, medical science has no cure that could reverse this abnormality. But there are definitely cures for the symptoms that result from the syndrome. It’s best to diagnose and start treatment as early as possible to give the kid a quality life with fewer limitations.
The treatment will not come under the purview of a single doctor. It will take different doctors with different specialities, like – pediatricians, physical and occupational therapists, neurologists, behavioral therapists, speech-language pathologists, gastroenterologists, and nutritionists – to work as a team and coordinatively address the different symptoms.
The below-mentioned treatments and interventions are used for symptom management-
- Anticonvulsants (anti-seizure medications) are given to treat seizures in kids who experience it
- Foot or ankle braces to ease walking
- Physical therapy aids walking problems, balance, and posture and helps with stiff joints
- Unwanted behaviors in kids are treated using behavioral modification therapy
- Behavioral therapy and healing sleep disorders by inculcating a strict sleep routine
- Training the kid in sign language, gesturing, and using special computer devices to communicate and learn better
How to Prevent Angelman Syndrome?
For the majority of cases, Angelman syndrome cannot be prevented. While the fetus is developing in the womb, some genetic abnormalities take place and cause this condition. Therefore, there’s no way to stop this process. It is still not known to medical science why it happens.
Furthermore, a baby can be born with Angelman syndrome if someone in the family has it. But such cases of inheritance are rare. If someone in your family has Angelman syndrome, you should consult a healthcare provider for your and your partner’s genetic testing before conception.
When to See a Doctor?
It is important to note that the signs or symptoms of Angelman syndrome won’t appear as soon as the baby is born. They start to appear after a few months in the form of developmental delays. The baby doesn’t learn to crawl and babble on time. All this happens between 6-12 months of age.
Make an appointment with your doctor if you notice such development delays or other symptoms of Angelman syndrome.
The missing UBE3A gene is at the root of Angelman syndrome. Because of its absence or malfunction, some cells do not get instructions to develop. Their absence causes many of the symptoms such as excitable expressions, walking problems and so on. Once a parent detects any symptoms or sees the baby delaying excessively on developmental milestones, they should talk to a doctor.
FAQ’s
1. Can Someone With Angelman Talk?
Most people with the disorder will be able to speak not at all or very few words at the max. They may also have learning disabilities. However, they’re excellent non-verbal communicators.
2. How Long Does Angelman Syndrome Last?
It lasts for a lifetime but symptoms like excitability and sleeping problems generally improve as the person gets old. People with the condition have an almost normal lifespan.
3. How Does Angelman Syndrome Affect Daily Life?
The quality of life can be improved by treating the symptoms. Children can communicate using non-verbal means, and learn using specialized methods as well. Mostly, those with the syndrome have good general well-being. But support is needed for them to live normally.
