Few people have heard of Angelman syndrome (AS), but those who have typically know someone affected by it.
Angelman syndrome is an inherited neurological disorder that affects the entire body's development, making it difficult to walk, talk and think clearly.
People with Angelman syndrome tend to have happy personalities and be very friendly, which can make their inability to communicate frustrating and even dangerous at times.
Read on to learn more about Angelman syndrome causes, symptoms, prevention and treatments in order to help yourself or someone you love lead a better life despite this difficult condition.
What is Angelman Syndrome?
Angelman syndrome is a rare neurodevelopmental disorder that affects the nervous system. It is characterized by intellectual disability, speech impairment, and problems with movement and balance and developmental delays.
AS can also cause seizures, sleep disturbance, and feeding difficulties. The cause of Angelman syndrome is currently unknown, but it is believed to be caused by a combination of genetic and environmental factors.
There is no cure for Angelman syndrome (AS), but there are treatments available to help manage the symptoms. Early diagnosis and intervention are important for the best possible outcome.
What are the Causes of AS?
AS is caused by a mutation or deletion in the gene UBE3A. This gene is located on chromosome 15 and is responsible for producing a protein called ubiquitin-protein ligase E3A.
This protein is essential for normal brain development. AS can also be caused by problems with the imprinting of the UBE3A gene.
Imprinting is a process by which certain genes are turned off or on depending on which parent they are inherited from.
If an embryo inherits one copy of the defective UBE3A gene from one parent and another copy from their other parent, then that embryo will develop Angelman syndrome.
In cases where there is no parental information available, it is usually because both parents carry one copy of the defective gene.
In these cases it's possible that Angelman syndrome was not diagnosed until after birth due to later onset symptoms that don't show up until adulthood.
What are the Symptoms of AS?
AS is a neurodevelopmental disorder that affects the nervous system. The most common symptom is delayed development of speech and motor skills.
Other symptoms of Angelman syndrome include seizures, jerky movements (ataxia), sleep disturbances, and feeding problems.
AS can also cause intellectual disability and behavior problems. There are two types of AS- Classic which has more severe symptoms and Unclassified which is less severe.
No cure exists for this condition but therapies like physical therapy and medication can help manage some of the symptoms.
A genetic test may be done to diagnose Angelman Syndrome but there are other conditions with similar symptoms so it's important to see a doctor for an accurate diagnosis.
How Does AS Affect People?
AS can cause a range of mild to severe problems. The most common symptom is delayed development of speech and motor skills.
People with AS may also have seizures, feeding difficulties, sleep disorders and behavioral problems. There is no cure for AS, but there are treatments that can help manage the symptoms.
Early diagnosis and intervention are important for the best possible outcome. Many people find that regular physical activity helps with any joint pain caused by spasticity (tight muscles).
It's important to have your child screened for developmental delays as soon as possible. If your child does not reach certain milestones on time, they should be evaluated further.
If you're concerned about your child's development or if you notice any signs of Angelman syndrome in them, speak to their pediatrician or family doctor about it right away.
How Common is Angelman Syndrome?
Although AS is considered a rare disorder, recent estimates suggest that it may be more common than previously thought.
AS occurs in all ethnic groups and across all socioeconomic levels. It is estimated to affect 1 in every 15,000-20,000 individuals born in the United States.
Most children with AS are diagnosed by age 2 or 3. However, some features of the disorder may not be recognized until later years.
The incidence of males being affected appears to be four times higher than females. Affected individuals have average intelligence, but there is often severe difficulty speaking, understanding speech, and reading words.
These problems make school challenging for those with AS. There are also typically difficulties with spatial tasks such as assembling puzzles or playing video games.
There are special schooling programs for children with Angelman syndrome that help develop social skills and improve their ability to communicate.
There is no cure for Angelman Syndrome but there are treatments available to help people who have it function better on a day-to-day basis
Can Angelman Syndrome Be Treated?
There is no one-size-fits-all treatment for Angelman syndrome, but there are many options available that can help improve the lives of those affected.
Some common interventions include occupational therapy, physical therapy, speech therapy, and behavior management.
Medications may also be prescribed to help control seizures or sleep problems. In some cases, surgery may be recommended to correct anatomical abnormalities or to implant a device that can help control seizures.
As with most disabilities, early intervention is key and children should begin receiving specialized care as soon as possible.
For example, if your child has difficulty feeding themselves due to their lack of coordination or loss of sensation in their hands, speech therapy may be recommended so they can learn how to use utensils properly or ask for food when they need it.
Treatments for AS
Although there is no cure for AS, there are a number of treatments that can help improve the quality of life for those affected. These include physical, occupational and speech therapy, as well as medication to control seizures.
A diet low in protein can also help lessen seizure activity. In some cases, surgery may be recommended to help with mobility issues.
Children diagnosed with AS should have an education plan in place before they start school. Appropriate education plans should allow children with Angelman syndrome to participate more fully in their classes.
Additionally, it's important for people who have been diagnosed with Angelman Syndrome not to get discouraged by challenges they face on a daily basis.
It's important for those who have Angelman Syndrome not to give up!
Medications for AS Treatment
There are a few different types of medications that can be used to help manage the symptoms of Angelman syndrome. These include antipsychotics, anticonvulsants, and antidepressants.
Some people with AS may also benefit from taking medication for sleep or anxiety. There is no one-size-fits-all approach to medication for AS, so it's important to work with a doctor to figure out what might work best for you or your child.
One possible approach is starting with an antidepressant like citalopram (Celexa) as well as an antipsychotic like risperidone (Risperdal).
Both have been shown to be effective in managing some of the hyperactivity and irritability associated with AS.
A common side effect associated with risperidone is weight gain, but this has not been reported for citalopram.
Alternative Treatments for AS
There are many alternative treatments for Angelman syndrome that can help improve the quality of life for those affected.
Some of these include: special diets, physical therapy, speech therapy, occupational therapy, and behavior therapy. Many of these therapies can be used in combination with each other to create a well-rounded treatment plan.
Diet Therapy for AS Treatment
A gluten-free diet is often recommended for people with Angelman syndrome. This means avoiding wheat, rye, barley and oats. Some people also need to avoid dairy products.
A dietitian can help you figure out what foods to eat and what to avoid. While it might seem difficult at first, the diet can be adapted as a person gets older.
It's important to stick with this regimen because research has shown that some children who have AS do better when they follow a strict gluten-free diet. Another treatment is getting regular exercise to keep your muscles strong.
Physical therapy can help if you have any difficulties with walking or balance. You may also want to talk to your doctor about medicines like Valium (diazepam) or Klonopin (clonazepam) if anxiety becomes too severe.
The medications don't cure AS but they can make you feel calmer. The American Academy of Neurology recommends that these drugs not be used long term in patients under 18 years old because there are risks associated with their use.
You should take them only under a doctor's supervision, and use them sparingly. Finally, if stress starts to become an issue in your life - it may make sense to find someone you trust who can support you during times of intense worry or pain.
Conclusion
Angelman syndrome is a neurodevelopmental disorder that is characterized by severe developmental delays, intellectual disability, and speech impairment. Although there is no cure for Angelman syndrome, early diagnosis and intervention can improve the quality of life for affected individuals.
With proper care and support, people with Angelman syndrome can lead happy and fulfilling lives. Treatment usually involves occupational therapy, speech therapy, physical therapy, or even orthopedic surgery. Prenatal diagnosis may be an option if parents are concerned about having another child with Angelman syndrome.
Related articles: