Angelman syndrome is a genetic disorder that affects 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.

Angelman syndrome has symptoms, causes, and treatment options.

“The Angelman syndrome symptoms don’t show up at birth. Between 6 and 12 months of age, there are signs of delays.”

There are many possible symptoms of Angelman syndrome. The symptoms vary from person to person. They may include:

Angelman syndrome facial features

Angelman syndrome does not cause distinctive facial features. Microbrachycephaly is a small head that is flat along the back, and it may be involved if it does. This can become noticeable around 2 years old.

Other facial features may include:

  • crossed eyes
  • paler skin, hair, and eyes than other family members
  • “It’s also known as a wide mouth.”
  • bulging tongue.
  • The teeth are widely spread.
  • The chin is prominent.
  • deep-set eyes

Angelman syndrome physical delays

Mobility and physical development are some of the symptoms of Angelman syndrome. This may include:

  • delayed ability to walk
  • gait ataxia, or Difficult walking in a straight line
  • trembling limbs
  • stiff legs.
  • movements that are very fast

Angelman syndrome learning delays

Angelman syndrome is often characterized by being unable to speak.

A child younger than 1 year old might not be able to make sounds. The child might learn to communicate through gestures.

Angelman syndrome behavioral symptoms

The following behaviors are associated with Angelman syndrome.

  • Getting excited quickly.
  • There were episodes of laughter and smiling.
  • There is a difference between restless or hyper
  • The attention span is short.
  • Difficult sleeping
  • There is fascination with water and shiny objects.
  • The person is walking with arms in the air.
  • The tongue is sticking out frequently.
  • The hand is flapping

Other Angelman syndrome symptoms

Angelman syndrome might involve.

The cause of Angelman syndrome is a change in the E3 ubiquitin protein ligase.

“It develops when a child doesn’t receive a copy of the genes from their parents. They might get the gene, but it doesn’t work right.”

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.

“The genetic defect can occur during conception. The parents don’t have the disorder.”

Angelman syndrome can cause problems. This may include:

Adults with Angelman syndrome do not live independently.

There is no cure for Angelman syndrome. Various therapies can be used to manage the symptoms.

The best treatment depends on the symptoms. This will likely include a combination of things.

  • 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 There is a lot of attention to detail., 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 that your child is not reaching their development goals by the age of 6 to 12 months, bring them to the doctor.

Pay attention to the signs.

  • It was little to no babbling.
  • Difficult to eat.
  • Difficult walking
  • Seizures., usually around 2 years old
  • The small head is more noticeable at 2 years old.
  • paler skin and eyes compared to other family members

The following methods can be used to diagnose Angelman syndrome.

  • 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.

Angelman syndrome can be diagnosed between 9 months and 6 years old.

Over time, some of the symptoms of Angelman syndrome will become less severe. This might include:

  • Seizures.
  • There is a lot of attention to detail.
  • sleep disorders

“People with Angelman syndrome have a long life. The risk of certain injuries can be increased by the condition’s complications. This may be related to something.”

  • Seizures.
  • aspiration pneumonia
  • Accidents are caused by walking difficulties or fascination with water.

Symptom management is the key to the long-term outlook of Angelman syndrome.

Treatment in adults will need to focus on managing factors.

  • stiff joints
  • return of Seizures.
  • Irregularities in the gut, including gastroesophageal reflux disease and scurvy.
  • Communication difficulties.
  • Either overweight or obese.
  • Accidents and injuries.

Individuals with the condition can lead long and healthy lives with proper support and care.

Angelman syndrome is a rare genetic neurological condition. It can cause various developmental delays, including lower mobility, speech difficulties, and There is a lot of attention to detail.. These issues often appear between 6 and 12 months old.

There is no cure for Angelman syndrome. It is possible to manage the consequences through various forms of therapy.

A person with the condition has a long life. Proper care and support will improve their outlook.