What is Angelman Syndrome? What are the Causes, Symptoms and Treatment?

Angelman syndrome is a rare genetic disease that affects the nervous system and causes severe developmental delays, learning disabilities, gait and balance problems, seizures, and other health problems. Abnormalities in a specific gene cause this disease. You can find more information below.

What is Angelman syndrome?

Angelman syndrome; It is a genetic disease that causes delayed development, speech and balance problems, intellectual disability, and sometimes seizures . People with this genetic disorder; usually smiles often, has happy and exciting personalities.

Developmental delays that begin around 6 to 12 months of age are often the first signs of Angelman syndrome. Seizures can begin between the ages of 2 and 3.

People with Angelman syndrome tend to live a near normal life expectancy, but this genetic condition cannot be cured. Treatment focuses medically on managing sleep and developmental issues.

Causes of Angelman syndrome

Angelman syndrome is genetic. It is usually caused by problems with a gene located on chromosome 15, called the ubiquitin protein ligase E3A ( UBE3A ) gene.

A missing or defective gene

You get your gene pairs from your parents; one from your mother (maternal copy) and one from your father (paternal copy). Your cells usually use information from both copies, but in a small number of genes only one copy is active.

Normally, only the maternal (maternal) copy of the UBE3A gene in the brain is active. Most cases of Angelman syndrome occur when part of the maternal copy is missing or damaged.

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In some cases, Angelman syndrome can be caused by inheriting two paternal copies of the gene, rather than one from each parent.

Who is at risk?

This genetic syndrome is rare. Researchers often don’t know what causes the genetic changes that cause this condition. Most people with Angelman syndrome do not have a family history of the disease.

However, having the disease in the family or close relatives may increase the baby’s risk of developing or carrying this syndrome.

Angelman syndrome symptoms

Symptoms that occur in nearly all people with Angelman syndrome include:

  • delayed development
  • learn hard
  • speech problems
  • movement disorders
  • walking difficulties
  • Unusual behavior (such as frequent laughing, clapping, and hyperactivity )

Common symptoms in more than 80 percent of individuals with this genetic condition include:

  • Seizures (usually begin before age 3 years)
  • Abnormal electroencephalogram (the electrical activity of the brain)
  • Small head circumference

Other symptoms that occur in 20 to 80 percent of affected people include:

  • sleep problems
  • feeding problems
  • Curvature of the spine that may worsen in childhood (scoliosis)
  • Unusually pale skin
  • have widely spaced teeth
  • wide mouth
  • Strabismus
  • No interest in shiny or wrinkled objects
  • digestive system disorders
  • Lifting arms while walking
  • flat back of head
  • Increased sensitivity to heat

When should you see a doctor?

Most babies affected by this condition show no symptoms at birth. The first signs of this genetic syndrome are usually; Developmental delays between 6 and 12 months, such as a lack of movement, mischief, or speech. If your child has developmental delays or if your child has any of the above symptoms, you should definitely see a doctor.

Angelman syndrome diagnosis

your child; This genetic syndrome can be suspected if there are developmental delays such as movement and balance problems, a small head development, a flat back of the head, frequent laughter, speech difficulties, and other symptoms of the disorder.

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tests

A definitive diagnosis is almost always made with a blood test. This genetic test can identify abnormalities in your child’s chromosomes that indicate Angelman syndrome.

A combination of genetic testing can reveal chromosomal defects associated with Angelman syndrome. The following tests can provide information about the process:

  • Parental DNA: Known as the DNA methylation test, this test screens for three of the four genetic abnormalities known to cause Angelman syndrome.
  • Missing chromosomes: Chromosome microarray (CMA) can show whether parts of the chromosome are missing.
  • Gene mutation: Rarely, when a person’s maternal (maternal) copy of the UBE3A gene is active and mutated, Angelman syndrome can result. If results from a DNA methylation test are normal, your child’s doctor may order a UBE3A gene sequencing test to look for a maternal mutation.

Angelman syndrome treatment

There is no definitive treatment to eliminate this genetic syndrome. Researches; It focuses on identifying specific genes for the disease, while current treatment focuses on managing medical and developmental issues.

A disciplined team of healthcare professionals will work with you to manage and control your child’s condition. Depending on your child’s symptoms, treatment steps may include:

  • Anti-seizure medications to control seizures
  • physical therapy to help with walking and movement problems
  • Communication therapy , which may include sign language and picture communication
  • Behavioral therapy to help with problems such as hyperactivity

coping and support

It can be very difficult for you to make such a diagnosis in your child and you may not know what to do. You may be concerned about your ability to deal with your child’s medical concerns and developmental disabilities. But there are resources that can help.

  • Working with a team: Find a team of doctors and therapists you trust to help you with important decisions about your child’s care and treatment. These professionals can also help you find local help resources.
  • Consider a support group: Connecting with other families facing similar challenges can help you feel less alone. You can ask your child’s doctor for information about local support groups and other charities.
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Can Angelman syndrome be prevented?

In rare cases, defective genes can be inherited from a parent affected by Angelman syndrome to a child. If you’re worried about a family’s genetics, or if you already have a child with the disorder, you may want to consider talking to your doctor or a genetic counselor to help plan future pregnancies and the family.

Angelman syndrome complications

Complications associated with Angelman syndrome include:

  • Feeding difficulties: Difficulty coordinating sucking and swallowing can cause feeding problems in babies. Your doctor may recommend a high-calorie formula or diet to help your baby gain weight.
  • Hyperactivity: Affected children often switch from one activity to another quickly, have a short attention span, and hold their hands or toy in their mouths. Hyperactivity decreases with age and medication is not usually necessary.
  • Sleep disorders: Affected children often have abnormal sleep-wake states and sleep less than most people. Sleeping difficulties may improve with age. Medication and behavioral therapy can help control sleep disorders.
  • Curvature of the spine (scoliosis): Some affected individuals have abnormal spinal curvature over time. This is manifested as a lateral curvature of the spine.
  • Obesity: Older children with Angelman syndrome tend to have appetites that can lead to obesity.

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