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ANGELMAN SYNDROME

Mental Health, Uncategorized / By

ANGELMAN SYNDROME

Angelman syndrome is a genetic disorder. It causes developmental disabilities, neurological problems and sometimes, seizures.

People with Angelman syndrome often smile and laugh frequently, and have happy, excitable personalities.

Developmental delays, between about 6 and 12 months of age, are usually the first signs of Angelman syndrome. Seizures often begin between the ages of 2 and 3 years old.

CAUSES

Angelman syndrome is a genetic disorder. It’s 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 receive your pairs of genes from your parents — one copy from your mother (maternal copy) and the other from your father (paternal copy).

Your cells typically use information from both copies, but in a small number of genes, only one copy is active.

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

In a few cases, Angelman syndrome is caused when two paternal copies of the gene are inherited, instead of one from each parent.

SIGNS AND SYMPTOMS

  • Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months.
  • Seizures often begin between 2 and 3 years of age.
  • Speech impairment is pronounced, with little to no use of words. Individuals with this syndrome often display the following that can have severe functional deficits:
    • hyperactivity,
    • small head size,
    • sleep disorders,
    • movement and balance disorders
  • Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements.
  • In addition to hyperactivity, a short attention span, and a fascination with water are common.
  • With age, people with Angelman syndrome become less excitable, and the sleeping problems tend to improve. However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives.
  • Adults with Angelman syndrome have distinctive facial features that may be described as “coarse.” Other common features include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine (scoliosis). The life expectancy of people with this condition appears to be nearly normal.

DIAGNOSIS

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

A combination of genetic tests can reveal the chromosome defects related to Angelman syndrome. These tests may review:

  • Parental DNA pattern. This test, known as a DNA methylation test, screens for three of the four known genetic abnormalities that cause Angelman syndrome.
  • Missing chromosomes. A chromosomal microarray (CMA) can show if portions of chromosomes are missing.
  • Gene mutation. Rarely, Angelman syndrome may occur when a person’s maternal copy of the UBE3A gene is active, but mutated. 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.

TREATMENT

There’s no cure for Angelman syndrome. Research is focusing on targeting specific genes for treatment. Current treatment focuses on managing the medical and developmental issues.

Depending on your child’s signs and symptoms, treatment for Angelman syndrome may involve:

  • Anti-seizure medication to control seizures
  • Physical therapy to help with walking and movement problems
  • Communication therapy, which may include sign language and picture communication
  • Behavior therapy to help overcome hyperactivity and a short attention span and to aid in development