Angelman syndrome is a genetic disorder that involves the nervous system.
This rare condition affects 500,000 people around the world, according to the Angelman Syndrome Foundation. The disorder causes severe developmental delays. These include physical and learning issues, such as lower mobility or speech difficulties. People with Angelman syndrome are unable to live independently. But with proper support and care, the overall outlook is favorable.
Read on to learn about Angelman syndrome, including its symptoms, causes, and treatment options.
Although Angelman syndrome is genetic, the symptoms don’t appear at birth. Instead, developmental delays become noticeable between 6 and 12 months of age.
There are many possible symptoms of Angelman syndrome. The exact symptoms vary from person to person. They may include:
Angelman syndrome facial features
In most cases, Angelman syndrome does not cause distinctive facial features. But if it does, it may involve microbrachycephaly, which is a small head that’s flat along the back. This often becomes noticeable around 2 years old.
Other facial features may include:
- crossed eyes
- paler skin, hair, and eyes than other family members
- wide mouth, also known as macrostomia
- bulging tongue
- widely spaced teeth
- prominent chin
- deep-set eyes
Angelman syndrome physical delays
Some symptoms of Angelman syndrome involve mobility and physical development. This may include:
- delayed ability to walk
- gait ataxia, or difficulty walking in a straight line
- trembling limbs
- stiff legs
- jerky movements
Angelman syndrome learning delays
Angelman syndrome is often characterized by the inability or near inability to speak.
A child younger than 1 year old might not be able to make babbling noises. As they get older, the child might learn to communicate through hand gestures.
Angelman syndrome behavioral symptoms
Angelman syndrome is associated with the following behaviors:
- getting easily excited
- unprovoked episodes of laughter and smiling
- restlessness or hyperactivity
- short attention span
- difficulty sleeping
- fascination with water and shiny objects
- walking with arms in the air
- frequently sticking the tongue out
- hand flapping movements
Other Angelman syndrome symptoms
Angelman syndrome might involve:
- seizures, usually starting around 2 years old
- difficulty eating caused by sucking and swallowing difficulties
- gastroesophageal reflux disease (GERD)
- sleep disorders
- curved spine (scoliosis)
- excessive drooling
- fast and involuntary eye movements (nystagmus)
Angelman syndrome is caused by a change involving the gene E3 ubiquitin protein ligase (UBE3A).
It usually develops when a child doesn’t receive a copy of the gene from their birthing parent. In other cases, they might get the gene, but it doesn’t work properly.
In 2 to 5 percent of cases, Angelman syndrome develops when a child receives two copies of UBE3A from their other parent, according to the National Organization for Rare Disorders. In about 10 percent of cases, the exact cause is unknown.
Typically, the genetic defect occurs during conception. The parents usually do not have the disorder.
Angelman syndrome can cause certain complications throughout life. This may include:
- sleep disorders
- difficulty communicating
- difficulty walking independently
- difficulty eating
- obesity due to walking difficulties
- eye disorders like astigmatism
Due to these complications, adults with Angelman syndrome do not live independently.
There is no cure for Angelman syndrome. However, the symptoms can be managed using various therapies.
The best treatment depends on the symptoms. This will likely include a combination of:
- Antiseizure drugs. Antiseizure medications, or anticonvulsants, are used to control or manage seizures. Multiple drugs might be necessary.
- Sedatives. Sedatives may be helpful for managing sleep disorders.
- Motility drugs. These drugs help food move through the digestive system. This can help with GERD.
- Physical therapy. Physical therapy and ankle braces can help improve mobility.
- Occupational therapy. In occupational therapy, a specialist teaches skills for performing daily activities and tasks.
- Behavioral therapy. This type of therapy can manage hyperactivity, sleep disorders, and other behavioral symptoms.
- Speech therapy. Speech therapy can help a person with Angelman syndrome learn communication skills.
- Scoliosis treatment. Scoliosis, or curved spine, may be corrected with braces or surgery.
- Eye surgery. Surgery can correct crossed eyes.
If you notice your child has not reached developmental milestones by ages 6 to 12 months, bring them to a doctor.
Pay attention to these signs:
- little to no babbling
- difficulty eating
- difficulty walking
- seizures, usually around 2 years old
- small head, which is more noticeable around 2 years old
- paler skin and eyes compared with other family members
A doctor can diagnose Angelman syndrome using the following methods:
- Medical history. Children with Angelman syndrome are born without any developmental issues. Your child’s medical history can help their doctor determine the possibility of other conditions.
- Physical exam. The doctor will check for distinctive physical features, such as head size, crossed eyes, or deep-set eyes.
- Blood tests. This includes genetic tests that look for missing or altered genes.
Often, Angelman syndrome is diagnosed between 9 months and 6 years old.
Some symptoms of Angelman syndrome will become less severe over time. This might include:
- sleep disorders
People with Angelman syndrome have a typical life expectancy. However, the complications associated with the condition can increase the risk of certain injuries. This may be related to:
- aspiration pneumonia
- accidents due to walking difficulties or fascination with water
The long-term outlook of Angelman syndrome depends on symptom management.
In adults, treatment will need to focus on managing factors like:
- stiff joints
- return of seizures
- digestive issues, including GERD and constipation
- communication difficulties
- overweight or obesity
- accidents and injuries
With proper support and care, individuals with the condition can lead long and healthy lives.
Angelman syndrome is a rare genetic neurological condition. It can cause various developmental delays, including lower mobility, speech difficulties, and hyperactivity. These issues often appear between 6 and 12 months old.
There’s no cure for Angelman syndrome. However, it’s possible to manage complications through medication, surgery, and various forms of therapy.
A person with the condition has a typical life expectancy. Receiving proper care and support will also improve their overall outlook.