Angelman syndrome Save

Understanding Angelman Syndrome: Causes, Symptoms, and Diagnosis

Angelman Syndrome (AS) is a rare genetic disorder that primarily affects the nervous system, causing developmental delays, intellectual disabilities, and unique behavioral characteristics. This article aims to shed light on the causes, symptoms, and diagnosis of Angelman Syndrome.

Causes:

1. Deletion of Genes: In about 70% of cases, AS is caused by a deletion of genes on chromosome 15, typically inherited from the mother.
2. Gene Mutation: In 11% of cases, a mutation in the UBE3A gene inherited from the mother is responsible for AS.
3. Uniparental Disomy: In rare cases, an individual may inherit two copies of chromosome 15 from the father, leading to AS.
4. Imprinting Defect: In a small percentage of cases, AS occurs due to an imprinting defect, where the UBE3A gene from the mother is not expressed.

Symptoms:

• Developmental Delays: Children with AS may have delayed motor skills, speech, and cognitive abilities.
• Intellectual Disabilities: Individuals with AS often have moderate to severe intellectual disabilities.
• Speech Impairment: Speech difficulties, including minimal or no speech, are common in those with AS.
• Seizures: Most individuals with AS experience seizures, which usually start around the age of two.
• Ataxia: Problems with balance and coordination, known as ataxia, are frequently observed.
• Hyperactivity: Hyperactivity and a happy demeanor, characterized by frequent laughter and smiling, are typical behavioral traits.

Diagnosis:

Diagnosing Angelman Syndrome involves a comprehensive evaluation, which may include:

1. Physical Examination: A physician examines the individual's physical characteristics, development, and motor skills.
2. Genetic Testing: A genetic test, such as a DNA methylation test or UBE3A gene sequencing, can identify the genetic cause of AS.
3. Developmental Assessment: Assessing developmental milestones and intellectual abilities helps in confirming the diagnosis.
4. Electroencephalogram (EEG): An EEG is performed to detect abnormal brain activity associated with seizures.

While there is currently no cure for Angelman Syndrome, early intervention and supportive therapies can improve the quality of life for individuals with AS and their families. Seeking professional medical advice is crucial for accurate diagnosis and to develop appropriate management strategies tailored to each individual's needs.