ANGELMAN SYNDROME - Overview, Facts, Types, Diagnosis ...
ANGELMAN SYNDROME

ANGELMAN SYNDROME

Angelman syndrome is an acute genetic disorder that initially affects the nervous system, which may lead to problems with development, balance, speech and complications with intellect, and sometimes even causes seizures.

This disease is ordinarily caused by a genetic mutation, called UBE3A, on chromosome 15. An average person may have inherited one copy of the gene from each parent, and both copies have turned out to be active in several areas in the body. Still, a person who experiences the Angelman Syndrome has only one copy of the gene active in particular areas of the brain.

This rare neuro-genetic disorder occurs in one out of 15 000 live births or 500 000 people around the world.

SYMPTOMS

Most diseases’ symptoms vary from one person to another, and people with the same disease may not show every symptom indicated below.

Common Symptoms:

  • Delay in a child’s development
  • Cognitive disability (difficulty in paying attention)
  • Difficulty in speech (tongue thrusting)
  • Difficulty in walking, moving, and balancing (twitchy body movements, stiff legs)
  • Problems with feeding (especially in infants)
  • Excitable behavior (frequent smiling and laughing)
  • Trouble with sleep (need for less sleep than other children)

Other symptoms:

  • Seizures during the early stages of development
  • Small head circumference with a flatness of the back surface of the head
  • Light-colored hair, skin, and eyes
  • Unusual gestures (clapping, hand-raising)

DIAGNOSIS

Upon recognizing the common symptoms of Angelman Syndrome, parents are advised to consult the child’s pediatrician further to diagnose the child’s situation.

To come up with a diagnosis, the doctor shall perform a combination of several genetic tests which may include:

  • Chromosome Analysis

It is used to examine the size, shape, and count of the chromosomes in a cell.

  • Fluorescent In Situ Hybridization (FISH)

It is performed to observe if any chromosomes are missing in a cell.

  • DNA Methylation Test

This test is conducted to determine if both copies of a gene (each from both mother and father) are active.

  • Sequencing in the UBE3A

This is performed to seek abnormal activity in the maternal mutation of this gene.

Since most of the time, Angelman Syndrome is confused with the symptoms of Cerebral Palsy or Autism, this series of tests is needed to observe the gene responsible for the disease.

TREATMENT

There is no particular treatment for Angelman Syndrome. However, physicians focus on dealing with the symptoms to maintain a stable level of possibility for a quality life or help the child function normally.

Some interventions performed are:

  • Prescription of anticonvulsants or anti-seizure medications to deal with occasional seizures
  • Special diet, particularly keto or low glucose
  • Physical therapy to assist with walking, posture, and balance difficulties, and to deal with limb stiffness
  • Surgery is sometimes needed for severe cases of problematic posture that may have led to scoliosis.
  • Hearing and speech aids and therapies like sign language classes, gesture therapies, and using high-technology communication devices
  • Cognitive therapy to help with developmental and intellectual difficulties
  • Behavioral therapy to overcome hyperactive behaviors and attention problems

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