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What is Angelman Syndrome? Symptoms, Causes, and Diagnosis Explained

Angelman Syndrome: Symptoms, Causes & Diagnosis Explained

Angelman Syndrome is a rare genetic disorder that primarily affects the nervous system. It causes developmental delays, movement or balance problems, and intellectual disability. Children with Angelman Syndrome often display unique behavioral traits, and though it can be challenging for both the individuals and their families, with proper care and support, people with this condition can live fulfilling lives.

1. What Causes Angelman Syndrome?

Angelman Syndrome is caused by a genetic mutation on chromosome 15. More specifically, it occurs when the UBE3A gene, which is responsible for making a protein that regulates brain development, is either missing or not functioning properly. This gene is inherited from the mother, and if the copy from the mother is defective, the syndrome develops.

In most cases, Angelman Syndrome is not inherited but occurs due to spontaneous mutations. However, in some rare cases, it may be inherited due to a condition known as deletion or mutation of the gene on chromosome 15.

2. Common Symptoms of Angelman Syndrome

The symptoms of Angelman Syndrome vary from person to person, but there are common characteristics and behaviors that help doctors diagnose the condition.

Physical Symptoms:

• Delayed Development: Most children with Angelman Syndrome show delayed developmental milestones such as walking, talking, or motor skills.
• Movement and Balance Issues: Individuals may have difficulty with coordination, balance, and walking. This is often described as ataxia, leading to jerky or unsteady movements.
• Seizures: Seizures are common in people with Angelman Syndrome and often begin in early childhood.

Behavioral Symptoms:

• Happy, Excitable Behavior: A characteristic feature of the syndrome is a frequent, apparent happy demeanor. A person with Angelman Syndrome might laugh or smile frequently, even without an obvious cause.
• Short Attention Span: People with the syndrome often have difficulty focusing or maintaining attention.
• Nonverbal Communication: Many individuals with Angelman Syndrome are nonverbal, though some can communicate using gestures, signs, or communication devices.

Cognitive Symptoms:

• Intellectual Disabilities: Individuals typically have moderate to severe intellectual disability, though the extent can vary.
• Speech Delays: Most children with Angelman Syndrome do not develop verbal speech, but they may communicate through other means, such as sign language or augmentative communication tools.

How is Angelman Syndrome Diagnosed?

The diagnosis of Angelman Syndrome is often made based on physical, behavioral, and developmental observations, but genetic testing is required for confirmation.

• Clinical Evaluation: A doctor will review the child’s developmental history, medical symptoms, and family history to suspect Angelman Syndrome.
• Genetic Testing: The definitive test is genetic analysis, usually a blood test, to look for mutations or deletions in the UBE3A gene on chromosome 15.
• Other Tests: Sometimes, additional tests like brain imaging, EEG (electroencephalogram) to monitor for seizures, or developmental assessments may be performed to support the diagnosis.

If you suspect your child may have Angelman Syndrome or any other developmental disorder, Jeevaniyam Hospital offers comprehensive diagnostic services and treatment options. Their team of expert doctors, genetic counselors, and therapists can provide the support and care your family needs.

Jeevaniyam Hospital is equipped with advanced technology for genetic testing, physical and speech therapy, and personalized care plans. We are committed to helping families navigate the complexities of conditions like Angelman Syndrome, ensuring that every child receives the best care possible. Visit Jeevaniyam Hospital for a consultation and take the first step toward providing the right care for your child’s health and development.