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Angelman Syndrome – Causes and Symptoms of Angelman Syndrome

Angelman syndrome is a genetic disorder of the nervous system in which there is severe developmental delay and learning disabilities. The absence or near absence of speech and involuntary muscles are found along with tremors and jerky movements of the arms and legs. The common signs are that a child smiles frequently and suddenlybursts into laughter. Some may behave excitable and happy.This disease cannot be detected until parents start noticing the developmental delay when a child is about six to twelve months.

Causes of Angelman syndrome

  • Angelman syndrome is a genetic disorder and is caused by problems with a gene on chromosome 15 which is called the ubiquitin-protein ligase E3A(UBE3A) gene.
  • Those people suffering from this syndrome, have a missing UBE3A gene occurs in the chromosome given by the mother.
  • These genetic changes occur as a random event during the formation of the reproductive cells that is in early embryonic development.
  • In rare cases, a person suffering from this syndrome inherits two copies of chromosomes from his or her father.
  • Usually, a person inherits only one copy from each parent.
  • This phenomenon is called paternal uni-parental disomy and this can be one of the cause for this syndrome to happen.
  • This syndrome occurs very rarely and researches don’t know what causes the genetic changes that results in this syndrome.

Symptoms

The characteristic symptoms of Angel man syndrome include:

  • Lack or minimal speech
  • Trembling movement of arms and legs
  • Happy and excitable personality
  • Inability to walk, move or balance well
  • Developmental delays like slow crawling or babbling at 6 to 12 months
  • Mental retardation
  • Frequent smiling or laughing

Other signs and symptoms

They include:

  • Stiff or jerky movements
  • Crossing of the eyes
  • They walk with arms up in the air
  • Slight pigmentation of the hair, skin and eyes
  • A lower jaw that juts out
  • Seizures which begin between two and three years of age
  • The head size is small and flat at the back of the head
  • Tongue thrusting

When to consult your Pediatrician?

The first signs are developmental delays like if a child is slow in babbling or crawling between six to twelve months. If your child has developmental delays or other signs and symptoms of angelman syndrome, make an appointment to talk to your child’s pediatrician.

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