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.
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?
