Description

Angelman syndrome is a disease caused by a change in a gene, called a genetic change. Angelman syndrome causes developmental delay, problems with speech and balance, mental disability, and, sometimes, seizures.

Many people with Angelman syndrome to smile and to laugh often. They tend to be happy and easy to excite.

The delays in maturation, called the delays in development, will begin approximately between 6 and 12 months of age. Delays are often the first signs of Angelman syndrome. Seizures can begin between the ages of 2 and 3 years of age.

People with Angelman syndrome tend to live close to a typical life expectancy. But the disease cannot be cured. The treatment focuses on the medical management, the dream and the problems of development.

Symptoms

Angelman syndrome symptoms, which include:

  • Delays in the development, including the lack of crawling or babbling of 6 to 12 months.
  • Mental disabilities, also called intellectual disability.
  • Do not speak or speak very little.
  • Trouble walking, moving, or balance.
  • Smile and laugh often and seeming happy.
  • Be easy to excite.
  • Difficulty sucking or feeding.
  • Trouble falling asleep and staying asleep.

People who have Angelman syndrome may also have:

  • Seizures, often starting between 2 and 3 years of age.
  • Stiffness or sudden movements.
  • Small head size at 2 years.
  • Stick out your tongue.
  • The hair, skin, and eyes that are clear in color.
  • Strange behaviors, such as flapping of the hands and arms raised to the walk.
  • Crossed eyes, also caused the strabismus.
  • Curvature of the vertebral column, also known as scoliosis.

When to see a doctor

The majority of infants with Angelman syndrome do not show symptoms at birth. The first signs of Angelman syndrome most often are: delays in development. This includes the lack of crawling or babbling between 6 and 12 months.

If your child seems to have delays in the development or if your child has symptoms of Angelman syndrome, make an appointment with your child's health care professional.

Causes

Angelman syndrome is caused by changes in a gene, called a genetic change. It is most often caused by changes in a gene on chromosome 15 called the ubiquitin protein ligase E3A ( UBE3A ) gene.

A missing or damaged gene

You get your pairs of genes from their parents. One copy comes from his mother, called the maternal copy. The other comes from your father, called the paternal copy.

Your cells more often, use the information from both copies. But in a small number of genes, such as the UBE3A gene, only the copy from the mother is active.

Most often, the maternal copy of the UBE3A gene that helps the brain to develop. Angelman syndrome occurs when part of the maternal copy is missing or damaged. So that the brain can not get the information it needs to develop and control of voice and movement.

Rarely, Angelman syndrome is caused when two paternal copies of the genes that are transmitted in place of one from each parent.

Risk factors

Angelman syndrome is rare. Often, researchers do not know what causes the genetic changes that result in disease. The majority of people with Angelman syndrome do not have a family history.

But sometimes the Angelman syndrome can be transmitted from a mother. A family history of the disease can increase the baby's risk of getting the syndrome of Angelman syndrome.

Complications

Complications related to Angelman syndrome are:

  • Feeding problems. The difficulty sucking and swallowing together can cause feeding problems in babies. Your child's healthcare provider may suggest a high-calorie formula to help your baby gain weight.
  • The hyperactivity. Children with Angelman syndrome often move quickly from one activity to another, have a short attention span, and keep your hands or with a toy in the mouth. Hyperactivity often decreases with age. Medicine is often not necessary.
  • Sleep problems. People with Angelman syndrome often have changes in their sleep-wake patterns. They may need less sleep than most people. Sleep problems can improve with age. Medicine and behavioral therapy can help.
  • Curvature of the vertebral column, also known as scoliosis. Some people with Angelman syndrome to obtain a side-to-side spinal curve over time.
  • Obesity. Obesity is common in older children with Angelman syndrome.

Prevention

Rarely, Angelman syndrome can be passed from an affected parent to a child through the genes altered. If you are concerned about a family history of Angelman syndrome, or if you have a child with the condition, seek medical advice. Your health care professional or a genetic counselor can help you plan future pregnancies.

Diagnosis

Your child's healthcare provider may suspect Angelman syndrome if your child has developmental delays, say little or nothing, or have other symptoms. Symptoms may include seizures, problems with movement and balance, or a small head size.

Angelman syndrome can be difficult to diagnose because it shares symptoms with other types of syndromes.

Tests

A blood test can be almost always the diagnosis of Angelman syndrome. This gene test can find changes in the chromosomes that indicate that the syndrome of Angelman syndrome.

A mixture of genetic tests may show changes linked to Angelman syndrome. These tests can be reviewed:

  • The parents of the DNA pattern. This test, known as the DNA methylation of the test, screens for three of the four known changes in the genes that cause Angelman syndrome.
  • Missing chromosomes. A chromosomal microarray (CMA) can show whether parts of chromosomes are missing.
  • The changes in the genes. Rarely, Angelman syndrome occurs when a person's maternal copy of the UBE3A gene is active, but it has changed. If the results of a DNA methylation test, are characteristic of your child's healthcare provider may order a UBE3A gene sequencing test to find breast changes.

Because of the link between Angelman syndrome and seizures, a health professional could also make an electroencephalogram (EEG). An EEG measures the electrical activity of the brain.

Treatment

There is No cure for Angelman syndrome. The research is looking at the orientation of certain genes for the treatment. The current treatment focuses on managing the symptoms and addressing the delays in the development of children with Angelman syndrome.

A team of professionals from different areas work with you to manage your child's condition. Depending on your child's symptoms, the treatment for Angelman syndrome may involve:

  • Against the attacks of the medicine to control the seizures.
  • Physical or occupational therapy to help with the march and the movement.
  • Communication and speech therapy, which may include sign language and picture communication.
  • Behavior therapy to help you overcome hyperactivity and a short attention span and help in the development.
  • The drug and the dream of training to deal with the problems of sleep.
  • Changes in diet and medication to help with problems such as feeding problems, and constipation.

Coping and support

Finding out that his son has Angelman syndrome can be difficult. You may not know what to expect. You may worry about if you can take care of your child's medical needs and developmental disabilities. There are resources that can help.

Work with a team of

To find a team of health professionals, including therapists, that you trust to help you make decisions about your child's care and treatment. These professionals can also help you find local resources.

Consider a support group

Be in touch with other families who are facing problems like yours can help you feel more connected. Ask your child's healthcare provider about local support groups and other helpful organizations.

Preparing for your appointment

Call your healthcare provider if your baby or child is not developing as expected, or has other symptoms of Angelman syndrome. Your health care professional may then see a doctor that specializes in diseases that affect the brain and the nervous system, called a neurologist.

Here's some information to help you prepare for your appointment.

What you can do

  • Write down the symptoms that you have seen in your son, and when they began.
  • Take the baby to books and other records of the development of your child to the appointment. Photos and video recordings may be useful.
  • List your child's key medical information, including other conditions for which your child is being treated. List of the names of the medications, vitamins, or supplements your child takes, including doses.
  • Ask a family member or a friend to join you for your child's appointment. Someone who can offer support and help to remember the information they give you.
  • Write questions to ask their health professional.

Questions include:

  • What is likely causing my child's symptoms?
  • There are other possible causes of these symptoms?
  • What evidence does my child need?
  • Should my child see a specialist?

Questions to ask a specialist include:

  • Does my child has Angelman syndrome?
  • What are the possible complications of this condition?
  • What treatments are there?
  • What treatment do you suggest?
  • What is the long-term prognosis for my child?
  • Should I or my child be tested for changes in genes that are linked to this condition?
  • What other specialists in the event that my child see?
  • How can I find other families who are faced with Angelman syndrome?

Be sure to ask all the questions that you have.

What to expect from your doctor

A health professional who sees your child for the Angelman syndrome might ask:

  • Does your child have trouble eating?
  • Is your child reaching the expected, age-related physical milestones?
  • Have you seen problems with balance or movement?
  • Does your child laugh, smile or get excited about with more frequency than their peers?
  • Does your child have strange behaviors, such as hand flapping?
  • Does your child communicate with words?
  • How well does your child sleep?
  • Has your child had convulsions? If so, how often?
  • Your child's first-degree relatives such as a parent or a sibling has been diagnosed with Angelman syndrome?
Symptoms and treatment of Angelman syndrome