Definition

What is Angelman syndrome?

Angelman syndrome is a genetic disorder that affects the nervous system and causes severe physical and intellectual disability.

People with Angelman syndrome 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.

People with Angelman syndrome tend to live a normal life span, but the disease cannot be cured. Treatment focuses on managing medical and developmental issues.

How common is Angelman syndrome?

Angelman syndrome is seen throughout the world, diagnosed in individuals of all races. Although the true incidence remains unknown due to challenges of early identification, misdiagnosis, etc., it appears that the prevalence of AS among children and young adults is somewhere between 1/12,000 and 1/24,000. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Angelman syndrome?

The common signs and symptoms of Angelman syndrome are various, include:

  • 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.
  • Developmental delays, including no crawling or babbling at 6 to 12 months
  • Intellectual disability
  • No speech or minimal speech
  • Difficulty walking, moving or balancing well (ataxia)
  • Frequent smiling and laughter
  • Happy, excitable personality
  • Seizures, usually beginning between 2 and 3 years of age
  • Stiff or jerky movements
  • Small head size, with flatness in the back of the head (microbrachycephaly)
  • Tongue thrusting
  • Hair, skin and eyes that are light in color (hypopigmentation)
  • Unusual behaviors, such as hand flapping and arms uplifted while walking

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

Most babies with Angelman syndrome don’t show signs or symptoms at birth. The first signs of Angelman syndrome are usually developmental delays, such as lack of crawling or babbling, between 6 and 12 months.

If your child seems to have developmental delays or if your child has other signs or symptoms of Angelman syndrome, make an appointment with your child’s doctor.

Causes

What causes Angelman syndrome?

Angelman syndrome is a genetic disorder. It is believed that this disorder 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 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.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Angelman syndrome diagnosed?

If your doctor suspects that you have this condition, a physical examination will be performed. Then, a blood sample can be taken to confirm the diagnosis. A number of genetic tests will be carried out on the sample. These may include:

  • Chromosome analysis – to see if any parts of the chromosomes are missing (deletions)
  • Fluorescence in situ hybridisation (FISH) – used to check specifically for chromosome 15 deletions when Angelman syndrome is suspected, or to check the mother’s chromosomes
  • DNA methylation – which shows whether the genetic material on both the mother’s and father’s chromosomes is active
  • UBE3A gene mutation analysis – used to see if the genetic code on the maternal copy of the UBE3A gene is altered

How is Angelman syndrome treated?

Actually, 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
  • Activities such as swimming, horseriding and music therapy have also been reported as being beneficial
  • A back brace or spinal surgery may be recommended to prevent the spine from becoming more curved
  • An ankle or foot orthosis (lower leg brace) may be recommended to help with walking independently

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Angelman syndrome?

The following lifestyles and home remedies might help you cope with Angelman syndrome:

In rare cases, Angelman syndrome may be passed from an affected parent to a child through defective genes. If you’re concerned about a family history of Angelman syndrome or if you already have a child with Angelman syndrome, consider talking to your doctor or a genetic counselor for help planning future pregnancies.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: July 17, 2017 | Last Modified: July 17, 2017

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