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What are the Symptoms of Angelman Syndrome

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Summary

Symptoms of Angelman Syndrome: A genetic disorder that causes developmental and neurological disabilities. It causes developmental delay, intellectual disability, speech and balance problems, and seizures.
Cause: It is caused by loss of function of the gene (UBE3A) located on chromosome 15.

Symptoms: Developmental delays such as delay in crawling or walking and intellectual disability are seen.

Diagnosis: Diagnosis involves a combination of genetic tests.

Facts

  • Treatments can help manage the condition, with no known cure
  • diagnosis by a medical professional
  • requires laboratory testing or imaging
  • a lifetime condition
  • present at birth
  • Family history may increase the likelihood


Symptoms

  • Symptoms include:
  • Impaired speech
  • Ataxia
  • Scoliosis – curvature of the spine
  • Happy and excited
  • Seizures and convulsions starting at age 2
  • Have less sleep time compared to other children
  • Short attention span
  • Frequent tongue out
  • Hair, skin, eyes are yellow

Causes

  • This condition is caused by loss of function of the UBE3A gene.
  • It can occur as a result of mutation or deletion of genes.
  • It can also result from inactivation of genes due to other chromosomal changes.
  • In rare cases, a child may inherit two copies of the inactive forms of the gene, rather than one active and one inactive (unilateral disorder).

Diagnosis

  • Diagnosis involves a combination of genetic tests.
  • DNA Methylation Test
  • This test analyzes the DNA pattern of the parents.
  • Fluorescence In Situ Hybridization (FISH)
  • To detect the presence of chromosomal abnormality.
  • genetic testing
  • To ascertain whether the presence of the individual’s maternal copy of the UBE3A gene is mutated.
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Treatment

Treatment includes the use of anti-seizure drugs, surgery or physiotherapy.

Complications

  • If left untreated for a long time, it can
  • feeding difficulties
  • abnormal sleep-wake patterns
  • scoliosis
  • obesity due to large appetite

Prevention

This situation cannot be stopped. But if there is a family history, it is advisable to seek genetic counseling before pregnancy.

Questions to ask your doctor

  • Is it inherited?
  • Are there any support groups to join?
  • Does my child always need help?
  • Will the child learn to manage activities of daily routine?

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